MutationTaster - study a chromosomal position

NEVER press reload or F5 - unless you want to start from the very beginning.
input seems to be ok - now mapping the variant to the different transcripts...
found 7 transcript(s)...
Querying Taster for transcript #1: ENST00000368131
Querying Taster for transcript #2: ENST00000368132
Querying Taster for transcript #3: ENST00000295809
Querying Taster for transcript #4: ENST00000359709
Querying Taster for transcript #5: ENST00000448393
Querying Taster for transcript #6: ENST00000430894
Querying Taster for transcript #7: ENST00000340979
MT speed 0 s - this script 6.781392 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
IFI16	polymorphism_automatic	0	simple_aae		affected		S179T	single base exchange	rs866484		show file
IFI16	polymorphism_automatic	0	simple_aae		affected		S179T	single base exchange	rs866484		show file
IFI16	polymorphism_automatic	0	simple_aae		affected		S179T	single base exchange	rs866484		show file
IFI16	polymorphism_automatic	0	simple_aae		affected		S179T	single base exchange	rs866484		show file
IFI16	polymorphism_automatic	0	simple_aae		affected		S179T	single base exchange	rs866484		show file
IFI16	polymorphism_automatic	7.59451109777487e-08	without_aae		affected			single base exchange	rs866484		show file
IFI16	polymorphism_automatic	7.59451109777487e-08	without_aae		affected			single base exchange	rs866484		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 1 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr1:158986477G>CN/A show variant in all transcripts IGV

HGNC symbol

IFI16

Ensembl transcript ID

ENST00000368131

Genbank transcript ID

NM_005531

UniProt peptide

Q16666

alteration type

single base exchange

alteration region

CDS

DNA changes

c.536G>C
cDNA.826G>C
g.16720G>C

AA changes

S179T Score: 58 explain score(s)

position(s) of altered AA
if AA alteration in CDS

179

frameshift

known variant

Reference ID: rs866484

database	homozygous (C/C)	heterozygous	allele carriers
1000G	1079	1028	2107
ExAC	-	-	-

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K4me1, Histone, Histone 3 Lysine 4 Mono-Methylation
H3K9me1, Histone, Histone 3 Lysine 9 mono-methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-1.15	0
	-0.162	0
(flanking)	-0.03	0.001

explain score(s) and/or inspect your position(s) in in UCSC Genome Browser

splice sites

effect	gDNA position	score	wt detection sequence	exon-intron border
Acc increased	16715	wt: 0.44 / mu: 0.50	wt: ACCTCATTGTCAGCTCCACCCAACAGTTCTTCAACTGAGGT mu: ACCTCATTGTCAGCTCCACCCAACACTTCTTCAACTGAGGT	accc\|AACA
Acc increased	16731	wt: 0.23 / mu: 0.51	wt: CACCCAACAGTTCTTCAACTGAGGTACACTCTTCCTGGTCC mu: CACCCAACACTTCTTCAACTGAGGTACACTCTTCCTGGTCC	actg\|AGGT
Acc marginally increased	16720	wt: 0.2585 / mu: 0.2842 (marginal change - not scored)	wt: ATTGTCAGCTCCACCCAACAGTTCTTCAACTGAGGTACACT mu: ATTGTCAGCTCCACCCAACACTTCTTCAACTGAGGTACACT	acag\|TTCT
Donor marginally increased	16712	wt: 0.7885 / mu: 0.8632 (marginal change - not scored)	wt: GCTCCACCCAACAGT mu: GCTCCACCCAACACT	TCCA\|ccca
Acc gained	16728	0.45	mu: CTCCACCCAACACTTCTTCAACTGAGGTACACTCTTCCTGG	tcaa\|CTGA

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

179

mutated

all conserved

179

Ptroglodytes

all conserved

ENSPTRG00000001518

179

Mmulatta

all conserved

ENSMMUG00000004490

179

Fcatus

no homologue

Mmusculus

no homologue

Ggallus

no homologue

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
189	389	DOMAIN	HIN-200 1.	might get lost (downstream of altered splice site)
192	393	REGION	Interaction with TP53 C-terminus.	might get lost (downstream of altered splice site)
205	212	STRAND		might get lost (downstream of altered splice site)
214	214	MOD_RES	N6-acetyllysine.	might get lost (downstream of altered splice site)
216	219	STRAND		might get lost (downstream of altered splice site)
218	218	MUTAGEN	Y->A: Abolishes TP53-mediated transcriptional activation; when associated with A-267.	might get lost (downstream of altered splice site)
222	222	MUTAGEN	E->A: Abolishes TP53-mediated transcriptional activation; when associated with A-272.	might get lost (downstream of altered splice site)
225	234	STRAND		might get lost (downstream of altered splice site)
239	244	STRAND		might get lost (downstream of altered splice site)
247	253	HELIX		might get lost (downstream of altered splice site)
254	257	STRAND		might get lost (downstream of altered splice site)
258	261	COMPBIAS	Poly-Ile.	might get lost (downstream of altered splice site)
259	267	STRAND		might get lost (downstream of altered splice site)
267	267	MUTAGEN	Y->A: Abolishes TP53-mediated transcriptional activation; when associated with A-218.	might get lost (downstream of altered splice site)
270	273	STRAND		might get lost (downstream of altered splice site)
272	272	MUTAGEN	E->A: Abolishes TP53-mediated transcriptional activation; when associated with A-222.	might get lost (downstream of altered splice site)
278	281	STRAND		might get lost (downstream of altered splice site)
284	286	HELIX		might get lost (downstream of altered splice site)
292	298	HELIX		might get lost (downstream of altered splice site)
304	307	HELIX		might get lost (downstream of altered splice site)
315	327	STRAND		might get lost (downstream of altered splice site)
329	338	STRAND		might get lost (downstream of altered splice site)
341	348	STRAND		might get lost (downstream of altered splice site)
349	351	HELIX		might get lost (downstream of altered splice site)
361	372	STRAND		might get lost (downstream of altered splice site)
375	379	STRAND		might get lost (downstream of altered splice site)
385	388	STRAND		might get lost (downstream of altered splice site)
444	444	MOD_RES	N6-acetyllysine.	might get lost (downstream of altered splice site)
451	451	MOD_RES	N6-acetyllysine.	might get lost (downstream of altered splice site)
561	561	CROSSLNK	Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO-1).	might get lost (downstream of altered splice site)
561	561	MOD_RES	N6-acetyllysine.	might get lost (downstream of altered splice site)
562	761	DOMAIN	HIN-200 2.	might get lost (downstream of altered splice site)
571	766	REGION	Interaction with TP53 core domain.	might get lost (downstream of altered splice site)
578	585	STRAND		might get lost (downstream of altered splice site)
589	592	STRAND		might get lost (downstream of altered splice site)
593	596	TURN		might get lost (downstream of altered splice site)
597	605	STRAND		might get lost (downstream of altered splice site)
598	598	MOD_RES	N6-acetyllysine.	might get lost (downstream of altered splice site)
610	615	STRAND		might get lost (downstream of altered splice site)
614	614	MOD_RES	N6-acetyllysine.	might get lost (downstream of altered splice site)
618	620	HELIX		might get lost (downstream of altered splice site)
621	624	TURN		might get lost (downstream of altered splice site)
627	627	MUTAGEN	K->A: Impairs DNA binding; when associated with A-663; A-667; A-670; A- 674; A-732; A-734 and A-759.	might get lost (downstream of altered splice site)
629	634	STRAND		might get lost (downstream of altered splice site)
636	638	STRAND		might get lost (downstream of altered splice site)
641	644	STRAND		might get lost (downstream of altered splice site)
648	652	STRAND		might get lost (downstream of altered splice site)
655	657	STRAND		might get lost (downstream of altered splice site)
663	663	MUTAGEN	K->A: Impairs DNA binding; when associated with A-627; A-667; A-670; A- 674; A-732; A-734 and A-759.	might get lost (downstream of altered splice site)
663	670	HELIX		might get lost (downstream of altered splice site)
667	667	MUTAGEN	R->A: Impairs DNA binding; when associated with A-627; A-663; A-670; A- 674; A-732; A-734 and A-759.	might get lost (downstream of altered splice site)
670	670	MUTAGEN	S->A: Impairs DNA binding; when associated with A-627; A-663; A-667; A- 674; A-732; A-734 and A-759.	might get lost (downstream of altered splice site)
674	674	MUTAGEN	K->A: Impairs DNA binding; when associated with A-627; A-663; A-667; A- 670; A-732; A-734 and A-759.	might get lost (downstream of altered splice site)
675	679	HELIX		might get lost (downstream of altered splice site)
683	683	CONFLICT	K -> R (in Ref. 4; AAM96005).	might get lost (downstream of altered splice site)
685	699	STRAND		might get lost (downstream of altered splice site)
702	709	STRAND		might get lost (downstream of altered splice site)
712	718	STRAND		might get lost (downstream of altered splice site)
720	724	HELIX		might get lost (downstream of altered splice site)
723	723	CONFLICT	T -> N (in Ref. 1; AAA58683 and 2; AAB32519).	might get lost (downstream of altered splice site)
732	732	MUTAGEN	K->A: Impairs DNA binding; when associated with A-627; A-663; A-667; A- 670; A- 674; A-734 and A-759.	might get lost (downstream of altered splice site)
732	741	STRAND		might get lost (downstream of altered splice site)
734	734	MUTAGEN	K->A: Impairs DNA binding; when associated with A-627; A-663; A-667; A- 670; A- 674; A-732 and A-759.	might get lost (downstream of altered splice site)
737	737	CONFLICT	C -> S (in Ref. 1; AAA58683 and 2; AAB32519).	might get lost (downstream of altered splice site)
744	747	TURN		might get lost (downstream of altered splice site)
749	761	STRAND		might get lost (downstream of altered splice site)
759	759	MUTAGEN	K->A: Impairs DNA binding; when associated with A-627; A-663; A-667; A- 670; A- 674; A-732 and A-734.	might get lost (downstream of altered splice site)
764	766	TURN		might get lost (downstream of altered splice site)
780	780	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2190 / 2190

position (AA) of stopcodon in wt / mu AA sequence

730 / 730

position of stopcodon in wt / mu cDNA

2480 / 2480

poly(A) signal

N/A

conservation
nucleotide level for all changes - no scoring up to now

N/A

position of start ATG in wt / mu cDNA

291 / 291

chromosome

strand

last intron/exon boundary

2400

theoretical NMD boundary in CDS

2059

length of CDS

2190

coding sequence (CDS) position

536

cDNA position
(for ins/del: last normal base / first normal base)

826

gDNA position
(for ins/del: last normal base / first normal base)

16720

chromosomal position
(for ins/del: last normal base / first normal base)

158986477

original gDNA sequence snippet

ATTGTCAGCTCCACCCAACAGTTCTTCAACTGAGGTACACT

altered gDNA sequence snippet

ATTGTCAGCTCCACCCAACACTTCTTCAACTGAGGTACACT

original cDNA sequence snippet

ATTGTCAGCTCCACCCAACAGTTCTTCAACTGAGAACCCGA

altered cDNA sequence snippet

ATTGTCAGCTCCACCCAACACTTCTTCAACTGAGAACCCGA

wildtype AA sequence

MGKKYKNIVL LKGLEVINDY HFRMVKSLLS NDLKLNLKMR EEYDKIQIAD LMEEKFRGDA
GLGKLIKIFE DIPTLEDLAE TLKKEKLKVK GPALSRKRKK EVDATSPAPS TSSTVKTEGA
EATPGAQKRK KSTKEKAGPK GSKVSEEQTQ PPSPAGAGMS TAMGRSPSPK TSLSAPPNSS
STENPKTVAK CQVTPRRNVL QKRPVIVKVL STTKPFEYET PEMEKKIMFH ATVATQTQFF
HVKVLNTSLK EKFNGKKIII ISDYLEYDSL LEVNEESTVS EAGPNQTFEV PNKIINRAKE
TLKIDILHKQ ASGNIVYGVF MLHKKTVNQK TTIYEIQDDR GKMDVVGTGQ CHNIPCEEGD
KLQLFCFRLR KKNQMSKLIS EMHSFIQIKK KTNPRNNDPK SMKLPQEQRQ LPYPSEASTT
FPESHLRTPQ MPPTTPSSSF FTKKSEDTIS KMNDFMRMQI LKEGSHFPGP FMTSIGPAES
HPHTPQMPPS TPSSSFLTTL KPRLKTEPEE VSIEDSAQSD LKEVMVLNAT ESFVYEPKEQ
KKMFHATVAT ENEVFRVKVF NIDLKEKFTP KKIIAIANYV CRNGFLEVYP FTLVADVNAD
RNMEIPKGLI RSASVTPKIN QLCSQTKGSF VNGVFEVHKK NVRGEFTYYE IQDNTGKMEV
VVHGRLTTIN CEEGDKLKLT CFELAPKSGN TGELRSVIHS HIKVIKTRKN KKDILNPDSS
METSPDFFF*

mutated AA sequence

MGKKYKNIVL LKGLEVINDY HFRMVKSLLS NDLKLNLKMR EEYDKIQIAD LMEEKFRGDA
GLGKLIKIFE DIPTLEDLAE TLKKEKLKVK GPALSRKRKK EVDATSPAPS TSSTVKTEGA
EATPGAQKRK KSTKEKAGPK GSKVSEEQTQ PPSPAGAGMS TAMGRSPSPK TSLSAPPNTS
STENPKTVAK CQVTPRRNVL QKRPVIVKVL STTKPFEYET PEMEKKIMFH ATVATQTQFF
HVKVLNTSLK EKFNGKKIII ISDYLEYDSL LEVNEESTVS EAGPNQTFEV PNKIINRAKE
TLKIDILHKQ ASGNIVYGVF MLHKKTVNQK TTIYEIQDDR GKMDVVGTGQ CHNIPCEEGD
KLQLFCFRLR KKNQMSKLIS EMHSFIQIKK KTNPRNNDPK SMKLPQEQRQ LPYPSEASTT
FPESHLRTPQ MPPTTPSSSF FTKKSEDTIS KMNDFMRMQI LKEGSHFPGP FMTSIGPAES
HPHTPQMPPS TPSSSFLTTL KPRLKTEPEE VSIEDSAQSD LKEVMVLNAT ESFVYEPKEQ
KKMFHATVAT ENEVFRVKVF NIDLKEKFTP KKIIAIANYV CRNGFLEVYP FTLVADVNAD
RNMEIPKGLI RSASVTPKIN QLCSQTKGSF VNGVFEVHKK NVRGEFTYYE IQDNTGKMEV
VVHGRLTTIN CEEGDKLKLT CFELAPKSGN TGELRSVIHS HIKVIKTRKN KKDILNPDSS
METSPDFFF*

speed

1.19 s

All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
back to results table

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 1 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr1:158986477G>CN/A show variant in all transcripts IGV

HGNC symbol

IFI16

Ensembl transcript ID

ENST00000368132

Genbank transcript ID

N/A

UniProt peptide

Q16666

alteration type

single base exchange

alteration region

CDS

DNA changes

c.536G>C
cDNA.800G>C
g.16720G>C

AA changes

S179T Score: 58 explain score(s)

position(s) of altered AA
if AA alteration in CDS

179

frameshift

known variant

Reference ID: rs866484

database	homozygous (C/C)	heterozygous	allele carriers
1000G	1079	1028	2107
ExAC	-	-	-

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K4me1, Histone, Histone 3 Lysine 4 Mono-Methylation
H3K9me1, Histone, Histone 3 Lysine 9 mono-methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-1.15	0
	-0.162	0
(flanking)	-0.03	0.001

explain score(s) and/or inspect your position(s) in in UCSC Genome Browser

splice sites

effect	gDNA position	score	wt detection sequence	exon-intron border
Acc increased	16715	wt: 0.44 / mu: 0.50	wt: ACCTCATTGTCAGCTCCACCCAACAGTTCTTCAACTGAGGT mu: ACCTCATTGTCAGCTCCACCCAACACTTCTTCAACTGAGGT	accc\|AACA
Acc increased	16731	wt: 0.23 / mu: 0.51	wt: CACCCAACAGTTCTTCAACTGAGGTACACTCTTCCTGGTCC mu: CACCCAACACTTCTTCAACTGAGGTACACTCTTCCTGGTCC	actg\|AGGT
Acc marginally increased	16720	wt: 0.2585 / mu: 0.2842 (marginal change - not scored)	wt: ATTGTCAGCTCCACCCAACAGTTCTTCAACTGAGGTACACT mu: ATTGTCAGCTCCACCCAACACTTCTTCAACTGAGGTACACT	acag\|TTCT
Donor marginally increased	16712	wt: 0.7885 / mu: 0.8632 (marginal change - not scored)	wt: GCTCCACCCAACAGT mu: GCTCCACCCAACACT	TCCA\|ccca
Acc gained	16728	0.45	mu: CTCCACCCAACACTTCTTCAACTGAGGTACACTCTTCCTGG	tcaa\|CTGA

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

179

mutated

all conserved

179

Ptroglodytes

all conserved

ENSPTRG00000001518

179

Mmulatta

all conserved

ENSMMUG00000004490

179

Fcatus

no homologue

Mmusculus

no homologue

Ggallus

no homologue

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
189	389	DOMAIN	HIN-200 1.	might get lost (downstream of altered splice site)
192	393	REGION	Interaction with TP53 C-terminus.	might get lost (downstream of altered splice site)
205	212	STRAND		might get lost (downstream of altered splice site)
214	214	MOD_RES	N6-acetyllysine.	might get lost (downstream of altered splice site)
216	219	STRAND		might get lost (downstream of altered splice site)
218	218	MUTAGEN	Y->A: Abolishes TP53-mediated transcriptional activation; when associated with A-267.	might get lost (downstream of altered splice site)
222	222	MUTAGEN	E->A: Abolishes TP53-mediated transcriptional activation; when associated with A-272.	might get lost (downstream of altered splice site)
225	234	STRAND		might get lost (downstream of altered splice site)
239	244	STRAND		might get lost (downstream of altered splice site)
247	253	HELIX		might get lost (downstream of altered splice site)
254	257	STRAND		might get lost (downstream of altered splice site)
258	261	COMPBIAS	Poly-Ile.	might get lost (downstream of altered splice site)
259	267	STRAND		might get lost (downstream of altered splice site)
267	267	MUTAGEN	Y->A: Abolishes TP53-mediated transcriptional activation; when associated with A-218.	might get lost (downstream of altered splice site)
270	273	STRAND		might get lost (downstream of altered splice site)
272	272	MUTAGEN	E->A: Abolishes TP53-mediated transcriptional activation; when associated with A-222.	might get lost (downstream of altered splice site)
278	281	STRAND		might get lost (downstream of altered splice site)
284	286	HELIX		might get lost (downstream of altered splice site)
292	298	HELIX		might get lost (downstream of altered splice site)
304	307	HELIX		might get lost (downstream of altered splice site)
315	327	STRAND		might get lost (downstream of altered splice site)
329	338	STRAND		might get lost (downstream of altered splice site)
341	348	STRAND		might get lost (downstream of altered splice site)
349	351	HELIX		might get lost (downstream of altered splice site)
361	372	STRAND		might get lost (downstream of altered splice site)
375	379	STRAND		might get lost (downstream of altered splice site)
385	388	STRAND		might get lost (downstream of altered splice site)
444	444	MOD_RES	N6-acetyllysine.	might get lost (downstream of altered splice site)
451	451	MOD_RES	N6-acetyllysine.	might get lost (downstream of altered splice site)
561	561	CROSSLNK	Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO-1).	might get lost (downstream of altered splice site)
561	561	MOD_RES	N6-acetyllysine.	might get lost (downstream of altered splice site)
562	761	DOMAIN	HIN-200 2.	might get lost (downstream of altered splice site)
571	766	REGION	Interaction with TP53 core domain.	might get lost (downstream of altered splice site)
578	585	STRAND		might get lost (downstream of altered splice site)
589	592	STRAND		might get lost (downstream of altered splice site)
593	596	TURN		might get lost (downstream of altered splice site)
597	605	STRAND		might get lost (downstream of altered splice site)
598	598	MOD_RES	N6-acetyllysine.	might get lost (downstream of altered splice site)
610	615	STRAND		might get lost (downstream of altered splice site)
614	614	MOD_RES	N6-acetyllysine.	might get lost (downstream of altered splice site)
618	620	HELIX		might get lost (downstream of altered splice site)
621	624	TURN		might get lost (downstream of altered splice site)
627	627	MUTAGEN	K->A: Impairs DNA binding; when associated with A-663; A-667; A-670; A- 674; A-732; A-734 and A-759.	might get lost (downstream of altered splice site)
629	634	STRAND		might get lost (downstream of altered splice site)
636	638	STRAND		might get lost (downstream of altered splice site)
641	644	STRAND		might get lost (downstream of altered splice site)
648	652	STRAND		might get lost (downstream of altered splice site)
655	657	STRAND		might get lost (downstream of altered splice site)
663	663	MUTAGEN	K->A: Impairs DNA binding; when associated with A-627; A-667; A-670; A- 674; A-732; A-734 and A-759.	might get lost (downstream of altered splice site)
663	670	HELIX		might get lost (downstream of altered splice site)
667	667	MUTAGEN	R->A: Impairs DNA binding; when associated with A-627; A-663; A-670; A- 674; A-732; A-734 and A-759.	might get lost (downstream of altered splice site)
670	670	MUTAGEN	S->A: Impairs DNA binding; when associated with A-627; A-663; A-667; A- 674; A-732; A-734 and A-759.	might get lost (downstream of altered splice site)
674	674	MUTAGEN	K->A: Impairs DNA binding; when associated with A-627; A-663; A-667; A- 670; A-732; A-734 and A-759.	might get lost (downstream of altered splice site)
675	679	HELIX		might get lost (downstream of altered splice site)
683	683	CONFLICT	K -> R (in Ref. 4; AAM96005).	might get lost (downstream of altered splice site)
685	699	STRAND		might get lost (downstream of altered splice site)
702	709	STRAND		might get lost (downstream of altered splice site)
712	718	STRAND		might get lost (downstream of altered splice site)
720	724	HELIX		might get lost (downstream of altered splice site)
723	723	CONFLICT	T -> N (in Ref. 1; AAA58683 and 2; AAB32519).	might get lost (downstream of altered splice site)
732	732	MUTAGEN	K->A: Impairs DNA binding; when associated with A-627; A-663; A-667; A- 670; A- 674; A-734 and A-759.	might get lost (downstream of altered splice site)
732	741	STRAND		might get lost (downstream of altered splice site)
734	734	MUTAGEN	K->A: Impairs DNA binding; when associated with A-627; A-663; A-667; A- 670; A- 674; A-732 and A-759.	might get lost (downstream of altered splice site)
737	737	CONFLICT	C -> S (in Ref. 1; AAA58683 and 2; AAB32519).	might get lost (downstream of altered splice site)
744	747	TURN		might get lost (downstream of altered splice site)
749	761	STRAND		might get lost (downstream of altered splice site)
759	759	MUTAGEN	K->A: Impairs DNA binding; when associated with A-627; A-663; A-667; A- 670; A- 674; A-732 and A-734.	might get lost (downstream of altered splice site)
764	766	TURN		might get lost (downstream of altered splice site)
780	780	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2190 / 2190

position (AA) of stopcodon in wt / mu AA sequence

730 / 730

position of stopcodon in wt / mu cDNA

2454 / 2454

poly(A) signal

N/A

conservation
nucleotide level for all changes - no scoring up to now

N/A

position of start ATG in wt / mu cDNA

265 / 265

chromosome

strand

last intron/exon boundary

2374

theoretical NMD boundary in CDS

2059

length of CDS

2190

coding sequence (CDS) position

536

cDNA position
(for ins/del: last normal base / first normal base)

800

gDNA position
(for ins/del: last normal base / first normal base)

16720

chromosomal position
(for ins/del: last normal base / first normal base)

158986477

original gDNA sequence snippet

ATTGTCAGCTCCACCCAACAGTTCTTCAACTGAGGTACACT

altered gDNA sequence snippet

ATTGTCAGCTCCACCCAACACTTCTTCAACTGAGGTACACT

original cDNA sequence snippet

ATTGTCAGCTCCACCCAACAGTTCTTCAACTGAGAACCCGA

altered cDNA sequence snippet

ATTGTCAGCTCCACCCAACACTTCTTCAACTGAGAACCCGA

wildtype AA sequence

mutated AA sequence

MGKKYKNIVL LKGLEVINDY HFRMVKSLLS NDLKLNLKMR EEYDKIQIAD LMEEKFRGDA
GLGKLIKIFE DIPTLEDLAE TLKKEKLKVK GPALSRKRKK EVDATSPAPS TSSTVKTEGA
EATPGAQKRK KSTKEKAGPK GSKVSEEQTQ PPSPAGAGMS TAMGRSPSPK TSLSAPPNTS
STENPKTVAK CQVTPRRNVL QKRPVIVKVL STTKPFEYET PEMEKKIMFH ATVATQTQFF
HVKVLNTSLK EKFNGKKIII ISDYLEYDSL LEVNEESTVS EAGPNQTFEV PNKIINRAKE
TLKIDILHKQ ASGNIVYGVF MLHKKTVNQK TTIYEIQDDR GKMDVVGTGQ CHNIPCEEGD
KLQLFCFRLR KKNQMSKLIS EMHSFIQIKK KTNPRNNDPK SMKLPQEQRQ LPYPSEASTT
FPESHLRTPQ MPPTTPSSSF FTKKSEDTIS KMNDFMRMQI LKEGSHFPGP FMTSIGPAES
HPHTPQMPPS TPSSSFLTTL KPRLKTEPEE VSIEDSAQSD LKEVMVLNAT ESFVYEPKEQ
KKMFHATVAT ENEVFRVKVF NIDLKEKFTP KKIIAIANYV CRNGFLEVYP FTLVADVNAD
RNMEIPKGLI RSASVTPKIN QLCSQTKGSF VNGVFEVHKK NVRGEFTYYE IQDNTGKMEV
VVHGRLTTIN CEEGDKLKLT CFELAPKSGN TGELRSVIHS HIKVIKTRKN KKDILNPDSS
METSPDFFF*

speed

1.30 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 1 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr1:158986477G>CN/A show variant in all transcripts IGV

HGNC symbol

IFI16

Ensembl transcript ID

ENST00000295809

Genbank transcript ID

N/A

UniProt peptide

Q16666

alteration type

single base exchange

alteration region

CDS

DNA changes

c.536G>C
cDNA.791G>C
g.16720G>C

AA changes

S179T Score: 58 explain score(s)

position(s) of altered AA
if AA alteration in CDS

179

frameshift

known variant

Reference ID: rs866484

database	homozygous (C/C)	heterozygous	allele carriers
1000G	1079	1028	2107
ExAC	-	-	-

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K4me1, Histone, Histone 3 Lysine 4 Mono-Methylation
H3K9me1, Histone, Histone 3 Lysine 9 mono-methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-1.15	0
	-0.162	0
(flanking)	-0.03	0.001

explain score(s) and/or inspect your position(s) in in UCSC Genome Browser

splice sites

effect	gDNA position	score	wt detection sequence	exon-intron border
Acc increased	16715	wt: 0.44 / mu: 0.50	wt: ACCTCATTGTCAGCTCCACCCAACAGTTCTTCAACTGAGGT mu: ACCTCATTGTCAGCTCCACCCAACACTTCTTCAACTGAGGT	accc\|AACA
Acc increased	16731	wt: 0.23 / mu: 0.51	wt: CACCCAACAGTTCTTCAACTGAGGTACACTCTTCCTGGTCC mu: CACCCAACACTTCTTCAACTGAGGTACACTCTTCCTGGTCC	actg\|AGGT
Acc marginally increased	16720	wt: 0.2585 / mu: 0.2842 (marginal change - not scored)	wt: ATTGTCAGCTCCACCCAACAGTTCTTCAACTGAGGTACACT mu: ATTGTCAGCTCCACCCAACACTTCTTCAACTGAGGTACACT	acag\|TTCT
Donor marginally increased	16712	wt: 0.7885 / mu: 0.8632 (marginal change - not scored)	wt: GCTCCACCCAACAGT mu: GCTCCACCCAACACT	TCCA\|ccca
Acc gained	16728	0.45	mu: CTCCACCCAACACTTCTTCAACTGAGGTACACTCTTCCTGG	tcaa\|CTGA

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

179

mutated

all conserved

179

Ptroglodytes

all conserved

ENSPTRG00000001518

179

Mmulatta

all conserved

ENSMMUG00000004490

179

Fcatus

no homologue

Mmusculus

no homologue

Ggallus

no homologue

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
189	389	DOMAIN	HIN-200 1.	might get lost (downstream of altered splice site)
192	393	REGION	Interaction with TP53 C-terminus.	might get lost (downstream of altered splice site)
205	212	STRAND		might get lost (downstream of altered splice site)
214	214	MOD_RES	N6-acetyllysine.	might get lost (downstream of altered splice site)
216	219	STRAND		might get lost (downstream of altered splice site)
218	218	MUTAGEN	Y->A: Abolishes TP53-mediated transcriptional activation; when associated with A-267.	might get lost (downstream of altered splice site)
222	222	MUTAGEN	E->A: Abolishes TP53-mediated transcriptional activation; when associated with A-272.	might get lost (downstream of altered splice site)
225	234	STRAND		might get lost (downstream of altered splice site)
239	244	STRAND		might get lost (downstream of altered splice site)
247	253	HELIX		might get lost (downstream of altered splice site)
254	257	STRAND		might get lost (downstream of altered splice site)
258	261	COMPBIAS	Poly-Ile.	might get lost (downstream of altered splice site)
259	267	STRAND		might get lost (downstream of altered splice site)
267	267	MUTAGEN	Y->A: Abolishes TP53-mediated transcriptional activation; when associated with A-218.	might get lost (downstream of altered splice site)
270	273	STRAND		might get lost (downstream of altered splice site)
272	272	MUTAGEN	E->A: Abolishes TP53-mediated transcriptional activation; when associated with A-222.	might get lost (downstream of altered splice site)
278	281	STRAND		might get lost (downstream of altered splice site)
284	286	HELIX		might get lost (downstream of altered splice site)
292	298	HELIX		might get lost (downstream of altered splice site)
304	307	HELIX		might get lost (downstream of altered splice site)
315	327	STRAND		might get lost (downstream of altered splice site)
329	338	STRAND		might get lost (downstream of altered splice site)
341	348	STRAND		might get lost (downstream of altered splice site)
349	351	HELIX		might get lost (downstream of altered splice site)
361	372	STRAND		might get lost (downstream of altered splice site)
375	379	STRAND		might get lost (downstream of altered splice site)
385	388	STRAND		might get lost (downstream of altered splice site)
444	444	MOD_RES	N6-acetyllysine.	might get lost (downstream of altered splice site)
451	451	MOD_RES	N6-acetyllysine.	might get lost (downstream of altered splice site)
561	561	CROSSLNK	Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO-1).	might get lost (downstream of altered splice site)
561	561	MOD_RES	N6-acetyllysine.	might get lost (downstream of altered splice site)
562	761	DOMAIN	HIN-200 2.	might get lost (downstream of altered splice site)
571	766	REGION	Interaction with TP53 core domain.	might get lost (downstream of altered splice site)
578	585	STRAND		might get lost (downstream of altered splice site)
589	592	STRAND		might get lost (downstream of altered splice site)
593	596	TURN		might get lost (downstream of altered splice site)
597	605	STRAND		might get lost (downstream of altered splice site)
598	598	MOD_RES	N6-acetyllysine.	might get lost (downstream of altered splice site)
610	615	STRAND		might get lost (downstream of altered splice site)
614	614	MOD_RES	N6-acetyllysine.	might get lost (downstream of altered splice site)
618	620	HELIX		might get lost (downstream of altered splice site)
621	624	TURN		might get lost (downstream of altered splice site)
627	627	MUTAGEN	K->A: Impairs DNA binding; when associated with A-663; A-667; A-670; A- 674; A-732; A-734 and A-759.	might get lost (downstream of altered splice site)
629	634	STRAND		might get lost (downstream of altered splice site)
636	638	STRAND		might get lost (downstream of altered splice site)
641	644	STRAND		might get lost (downstream of altered splice site)
648	652	STRAND		might get lost (downstream of altered splice site)
655	657	STRAND		might get lost (downstream of altered splice site)
663	663	MUTAGEN	K->A: Impairs DNA binding; when associated with A-627; A-667; A-670; A- 674; A-732; A-734 and A-759.	might get lost (downstream of altered splice site)
663	670	HELIX		might get lost (downstream of altered splice site)
667	667	MUTAGEN	R->A: Impairs DNA binding; when associated with A-627; A-663; A-670; A- 674; A-732; A-734 and A-759.	might get lost (downstream of altered splice site)
670	670	MUTAGEN	S->A: Impairs DNA binding; when associated with A-627; A-663; A-667; A- 674; A-732; A-734 and A-759.	might get lost (downstream of altered splice site)
674	674	MUTAGEN	K->A: Impairs DNA binding; when associated with A-627; A-663; A-667; A- 670; A-732; A-734 and A-759.	might get lost (downstream of altered splice site)
675	679	HELIX		might get lost (downstream of altered splice site)
683	683	CONFLICT	K -> R (in Ref. 4; AAM96005).	might get lost (downstream of altered splice site)
685	699	STRAND		might get lost (downstream of altered splice site)
702	709	STRAND		might get lost (downstream of altered splice site)
712	718	STRAND		might get lost (downstream of altered splice site)
720	724	HELIX		might get lost (downstream of altered splice site)
723	723	CONFLICT	T -> N (in Ref. 1; AAA58683 and 2; AAB32519).	might get lost (downstream of altered splice site)
732	732	MUTAGEN	K->A: Impairs DNA binding; when associated with A-627; A-663; A-667; A- 670; A- 674; A-734 and A-759.	might get lost (downstream of altered splice site)
732	741	STRAND		might get lost (downstream of altered splice site)
734	734	MUTAGEN	K->A: Impairs DNA binding; when associated with A-627; A-663; A-667; A- 670; A- 674; A-732 and A-759.	might get lost (downstream of altered splice site)
737	737	CONFLICT	C -> S (in Ref. 1; AAA58683 and 2; AAB32519).	might get lost (downstream of altered splice site)
744	747	TURN		might get lost (downstream of altered splice site)
749	761	STRAND		might get lost (downstream of altered splice site)
759	759	MUTAGEN	K->A: Impairs DNA binding; when associated with A-627; A-663; A-667; A- 670; A- 674; A-732 and A-734.	might get lost (downstream of altered splice site)
764	766	TURN		might get lost (downstream of altered splice site)
780	780	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2358 / 2358

position (AA) of stopcodon in wt / mu AA sequence

786 / 786

position of stopcodon in wt / mu cDNA

2613 / 2613

poly(A) signal

N/A

conservation
nucleotide level for all changes - no scoring up to now

N/A

position of start ATG in wt / mu cDNA

256 / 256

chromosome

strand

last intron/exon boundary

2533

theoretical NMD boundary in CDS

2227

length of CDS

2358

coding sequence (CDS) position

536

cDNA position
(for ins/del: last normal base / first normal base)

791

gDNA position
(for ins/del: last normal base / first normal base)

16720

chromosomal position
(for ins/del: last normal base / first normal base)

158986477

original gDNA sequence snippet

ATTGTCAGCTCCACCCAACAGTTCTTCAACTGAGGTACACT

altered gDNA sequence snippet

ATTGTCAGCTCCACCCAACACTTCTTCAACTGAGGTACACT

original cDNA sequence snippet

ATTGTCAGCTCCACCCAACAGTTCTTCAACTGAGAACCCGA

altered cDNA sequence snippet

ATTGTCAGCTCCACCCAACACTTCTTCAACTGAGAACCCGA

wildtype AA sequence

MGKKYKNIVL LKGLEVINDY HFRMVKSLLS NDLKLNLKMR EEYDKIQIAD LMEEKFRGDA
GLGKLIKIFE DIPTLEDLAE TLKKEKLKVK GPALSRKRKK EVDATSPAPS TSSTVKTEGA
EATPGAQKRK KSTKEKAGPK GSKVSEEQTQ PPSPAGAGMS TAMGRSPSPK TSLSAPPNSS
STENPKTVAK CQVTPRRNVL QKRPVIVKVL STTKPFEYET PEMEKKIMFH ATVATQTQFF
HVKVLNTSLK EKFNGKKIII ISDYLEYDSL LEVNEESTVS EAGPNQTFEV PNKIINRAKE
TLKIDILHKQ ASGNIVYGVF MLHKKTVNQK TTIYEIQDDR GKMDVVGTGQ CHNIPCEEGD
KLQLFCFRLR KKNQMSKLIS EMHSFIQIKK KTNPRNNDPK SMKLPQEQRQ LPYPSEASTT
FPESHLRTPQ MPPTTPSSSF FTKKSEDTIS KMNDFMRMQI LKEGSHFPGP FMTSIGPAES
HPHTPQMPPS TPSSSFLTTK SEDTISKMND FMRMQILKEG SHFPGPFMTS IGPAESHPHT
PQMPPSTPSS SFLTTLKPRL KTEPEEVSIE DSAQSDLKEV MVLNATESFV YEPKEQKKMF
HATVATENEV FRVKVFNIDL KEKFTPKKII AIANYVCRNG FLEVYPFTLV ADVNADRNME
IPKGLIRSAS VTPKINQLCS QTKGSFVNGV FEVHKKNVRG EFTYYEIQDN TGKMEVVVHG
RLTTINCEEG DKLKLTCFEL APKSGNTGEL RSVIHSHIKV IKTRKNKKDI LNPDSSMETS
PDFFF*

mutated AA sequence

MGKKYKNIVL LKGLEVINDY HFRMVKSLLS NDLKLNLKMR EEYDKIQIAD LMEEKFRGDA
GLGKLIKIFE DIPTLEDLAE TLKKEKLKVK GPALSRKRKK EVDATSPAPS TSSTVKTEGA
EATPGAQKRK KSTKEKAGPK GSKVSEEQTQ PPSPAGAGMS TAMGRSPSPK TSLSAPPNTS
STENPKTVAK CQVTPRRNVL QKRPVIVKVL STTKPFEYET PEMEKKIMFH ATVATQTQFF
HVKVLNTSLK EKFNGKKIII ISDYLEYDSL LEVNEESTVS EAGPNQTFEV PNKIINRAKE
TLKIDILHKQ ASGNIVYGVF MLHKKTVNQK TTIYEIQDDR GKMDVVGTGQ CHNIPCEEGD
KLQLFCFRLR KKNQMSKLIS EMHSFIQIKK KTNPRNNDPK SMKLPQEQRQ LPYPSEASTT
FPESHLRTPQ MPPTTPSSSF FTKKSEDTIS KMNDFMRMQI LKEGSHFPGP FMTSIGPAES
HPHTPQMPPS TPSSSFLTTK SEDTISKMND FMRMQILKEG SHFPGPFMTS IGPAESHPHT
PQMPPSTPSS SFLTTLKPRL KTEPEEVSIE DSAQSDLKEV MVLNATESFV YEPKEQKKMF
HATVATENEV FRVKVFNIDL KEKFTPKKII AIANYVCRNG FLEVYPFTLV ADVNADRNME
IPKGLIRSAS VTPKINQLCS QTKGSFVNGV FEVHKKNVRG EFTYYEIQDN TGKMEVVVHG
RLTTINCEEG DKLKLTCFEL APKSGNTGEL RSVIHSHIKV IKTRKNKKDI LNPDSSMETS
PDFFF*

speed

0.95 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 1 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr1:158986477G>CN/A show variant in all transcripts IGV

HGNC symbol

IFI16

Ensembl transcript ID

ENST00000448393

Genbank transcript ID

N/A

UniProt peptide

Q16666

alteration type

single base exchange

alteration region

CDS

DNA changes

c.536G>C
cDNA.536G>C
g.16720G>C

AA changes

S179T Score: 58 explain score(s)

position(s) of altered AA
if AA alteration in CDS

179

frameshift

known variant

Reference ID: rs866484

database	homozygous (C/C)	heterozygous	allele carriers
1000G	1079	1028	2107
ExAC	-	-	-

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K4me1, Histone, Histone 3 Lysine 4 Mono-Methylation
H3K9me1, Histone, Histone 3 Lysine 9 mono-methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-1.15	0
	-0.162	0
(flanking)	-0.03	0.001

explain score(s) and/or inspect your position(s) in in UCSC Genome Browser

splice sites

effect	gDNA position	score	wt detection sequence	exon-intron border
Acc increased	16715	wt: 0.44 / mu: 0.50	wt: ACCTCATTGTCAGCTCCACCCAACAGTTCTTCAACTGAGGT mu: ACCTCATTGTCAGCTCCACCCAACACTTCTTCAACTGAGGT	accc\|AACA
Acc increased	16731	wt: 0.23 / mu: 0.51	wt: CACCCAACAGTTCTTCAACTGAGGTACACTCTTCCTGGTCC mu: CACCCAACACTTCTTCAACTGAGGTACACTCTTCCTGGTCC	actg\|AGGT
Acc marginally increased	16720	wt: 0.2585 / mu: 0.2842 (marginal change - not scored)	wt: ATTGTCAGCTCCACCCAACAGTTCTTCAACTGAGGTACACT mu: ATTGTCAGCTCCACCCAACACTTCTTCAACTGAGGTACACT	acag\|TTCT
Donor marginally increased	16712	wt: 0.7885 / mu: 0.8632 (marginal change - not scored)	wt: GCTCCACCCAACAGT mu: GCTCCACCCAACACT	TCCA\|ccca
Acc gained	16728	0.45	mu: CTCCACCCAACACTTCTTCAACTGAGGTACACTCTTCCTGG	tcaa\|CTGA

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

179

mutated

all conserved

179

Ptroglodytes

all conserved

ENSPTRG00000001518

179

Mmulatta

all conserved

ENSMMUG00000004490

179

Fcatus

no homologue

Mmusculus

no homologue

Ggallus

no homologue

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
189	389	DOMAIN	HIN-200 1.	might get lost (downstream of altered splice site)
192	393	REGION	Interaction with TP53 C-terminus.	might get lost (downstream of altered splice site)
205	212	STRAND		might get lost (downstream of altered splice site)
214	214	MOD_RES	N6-acetyllysine.	might get lost (downstream of altered splice site)
216	219	STRAND		might get lost (downstream of altered splice site)
218	218	MUTAGEN	Y->A: Abolishes TP53-mediated transcriptional activation; when associated with A-267.	might get lost (downstream of altered splice site)
222	222	MUTAGEN	E->A: Abolishes TP53-mediated transcriptional activation; when associated with A-272.	might get lost (downstream of altered splice site)
225	234	STRAND		might get lost (downstream of altered splice site)
239	244	STRAND		might get lost (downstream of altered splice site)
247	253	HELIX		might get lost (downstream of altered splice site)
254	257	STRAND		might get lost (downstream of altered splice site)
258	261	COMPBIAS	Poly-Ile.	might get lost (downstream of altered splice site)
259	267	STRAND		might get lost (downstream of altered splice site)
267	267	MUTAGEN	Y->A: Abolishes TP53-mediated transcriptional activation; when associated with A-218.	might get lost (downstream of altered splice site)
270	273	STRAND		might get lost (downstream of altered splice site)
272	272	MUTAGEN	E->A: Abolishes TP53-mediated transcriptional activation; when associated with A-222.	might get lost (downstream of altered splice site)
278	281	STRAND		might get lost (downstream of altered splice site)
284	286	HELIX		might get lost (downstream of altered splice site)
292	298	HELIX		might get lost (downstream of altered splice site)
304	307	HELIX		might get lost (downstream of altered splice site)
315	327	STRAND		might get lost (downstream of altered splice site)
329	338	STRAND		might get lost (downstream of altered splice site)
341	348	STRAND		might get lost (downstream of altered splice site)
349	351	HELIX		might get lost (downstream of altered splice site)
361	372	STRAND		might get lost (downstream of altered splice site)
375	379	STRAND		might get lost (downstream of altered splice site)
385	388	STRAND		might get lost (downstream of altered splice site)
444	444	MOD_RES	N6-acetyllysine.	might get lost (downstream of altered splice site)
451	451	MOD_RES	N6-acetyllysine.	might get lost (downstream of altered splice site)
561	561	CROSSLNK	Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO-1).	might get lost (downstream of altered splice site)
561	561	MOD_RES	N6-acetyllysine.	might get lost (downstream of altered splice site)
562	761	DOMAIN	HIN-200 2.	might get lost (downstream of altered splice site)
571	766	REGION	Interaction with TP53 core domain.	might get lost (downstream of altered splice site)
578	585	STRAND		might get lost (downstream of altered splice site)
589	592	STRAND		might get lost (downstream of altered splice site)
593	596	TURN		might get lost (downstream of altered splice site)
597	605	STRAND		might get lost (downstream of altered splice site)
598	598	MOD_RES	N6-acetyllysine.	might get lost (downstream of altered splice site)
610	615	STRAND		might get lost (downstream of altered splice site)
614	614	MOD_RES	N6-acetyllysine.	might get lost (downstream of altered splice site)
618	620	HELIX		might get lost (downstream of altered splice site)
621	624	TURN		might get lost (downstream of altered splice site)
627	627	MUTAGEN	K->A: Impairs DNA binding; when associated with A-663; A-667; A-670; A- 674; A-732; A-734 and A-759.	might get lost (downstream of altered splice site)
629	634	STRAND		might get lost (downstream of altered splice site)
636	638	STRAND		might get lost (downstream of altered splice site)
641	644	STRAND		might get lost (downstream of altered splice site)
648	652	STRAND		might get lost (downstream of altered splice site)
655	657	STRAND		might get lost (downstream of altered splice site)
663	663	MUTAGEN	K->A: Impairs DNA binding; when associated with A-627; A-667; A-670; A- 674; A-732; A-734 and A-759.	might get lost (downstream of altered splice site)
663	670	HELIX		might get lost (downstream of altered splice site)
667	667	MUTAGEN	R->A: Impairs DNA binding; when associated with A-627; A-663; A-670; A- 674; A-732; A-734 and A-759.	might get lost (downstream of altered splice site)
670	670	MUTAGEN	S->A: Impairs DNA binding; when associated with A-627; A-663; A-667; A- 674; A-732; A-734 and A-759.	might get lost (downstream of altered splice site)
674	674	MUTAGEN	K->A: Impairs DNA binding; when associated with A-627; A-663; A-667; A- 670; A-732; A-734 and A-759.	might get lost (downstream of altered splice site)
675	679	HELIX		might get lost (downstream of altered splice site)
683	683	CONFLICT	K -> R (in Ref. 4; AAM96005).	might get lost (downstream of altered splice site)
685	699	STRAND		might get lost (downstream of altered splice site)
702	709	STRAND		might get lost (downstream of altered splice site)
712	718	STRAND		might get lost (downstream of altered splice site)
720	724	HELIX		might get lost (downstream of altered splice site)
723	723	CONFLICT	T -> N (in Ref. 1; AAA58683 and 2; AAB32519).	might get lost (downstream of altered splice site)
732	732	MUTAGEN	K->A: Impairs DNA binding; when associated with A-627; A-663; A-667; A- 670; A- 674; A-734 and A-759.	might get lost (downstream of altered splice site)
732	741	STRAND		might get lost (downstream of altered splice site)
734	734	MUTAGEN	K->A: Impairs DNA binding; when associated with A-627; A-663; A-667; A- 670; A- 674; A-732 and A-759.	might get lost (downstream of altered splice site)
737	737	CONFLICT	C -> S (in Ref. 1; AAA58683 and 2; AAB32519).	might get lost (downstream of altered splice site)
744	747	TURN		might get lost (downstream of altered splice site)
749	761	STRAND		might get lost (downstream of altered splice site)
759	759	MUTAGEN	K->A: Impairs DNA binding; when associated with A-627; A-663; A-667; A- 670; A- 674; A-732 and A-734.	might get lost (downstream of altered splice site)
764	766	TURN		might get lost (downstream of altered splice site)
780	780	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2022 / 2022

position (AA) of stopcodon in wt / mu AA sequence

674 / 674

position of stopcodon in wt / mu cDNA

2022 / 2022

poly(A) signal

N/A

conservation
nucleotide level for all changes - no scoring up to now

N/A

position of start ATG in wt / mu cDNA

1 / 1

chromosome

strand

last intron/exon boundary

1942

theoretical NMD boundary in CDS

1891

length of CDS

2022

coding sequence (CDS) position

536

cDNA position
(for ins/del: last normal base / first normal base)

536

gDNA position
(for ins/del: last normal base / first normal base)

16720

chromosomal position
(for ins/del: last normal base / first normal base)

158986477

original gDNA sequence snippet

ATTGTCAGCTCCACCCAACAGTTCTTCAACTGAGGTACACT

altered gDNA sequence snippet

ATTGTCAGCTCCACCCAACACTTCTTCAACTGAGGTACACT

original cDNA sequence snippet

ATTGTCAGCTCCACCCAACAGTTCTTCAACTGAGAACCCGA

altered cDNA sequence snippet

ATTGTCAGCTCCACCCAACACTTCTTCAACTGAGAACCCGA

wildtype AA sequence

MGKKYKNIVL LKGLEVINDY HFRMVKSLLS NDLKLNLKMR EEYDKIQIAD LMEEKFRGDA
GLGKLIKIFE DIPTLEDLAE TLKKEKLKVK GPALSRKRKK EVDATSPAPS TSSTVKTEGA
EATPGAQKRK KSTKEKAGPK GSKVSEEQTQ PPSPAGAGMS TAMGRSPSPK TSLSAPPNSS
STENPKTVAK CQVTPRRNVL QKRPVIVKVL STTKPFEYET PEMEKKIMFH ATVATQTQFF
HVKVLNTSLK EKFNGKKIII ISDYLEYDSL LEVNEESTVS EAGPNQTFEV PNKIINRAKE
TLKIDILHKQ ASGNIVYGVF MLHKKTVNQK TTIYEIQDDR GKMDVVGTGQ CHNIPCEEGD
KLQLFCFRLR KKNQMSKLIS EMHSFIQIKK KTNPRNNDPK SMKLPQEQRQ LPYPSEASTT
FPESHLRTPQ MPPTTPSSSF FTKLKPRLKT EPEEVSIEDS AQSDLKEVMV LNATESFVYE
PKEQKKMFHA TVATENEVFR VKVFNIDLKE KFTPKKIIAI ANYVCRNGFL EVYPFTLVAD
VNADRNMEIP KGLIRSASVT PKINQLCSQT KGSFVNGVFE VHKKNVRGEF TYYEIQDNTG
KMEVVVHGRL TTINCEEGDK LKLTCFELAP KSGNTGELRS VIHSHIKVIK TRKNKKDILN
PDSSMETSPD FFF*

mutated AA sequence

MGKKYKNIVL LKGLEVINDY HFRMVKSLLS NDLKLNLKMR EEYDKIQIAD LMEEKFRGDA
GLGKLIKIFE DIPTLEDLAE TLKKEKLKVK GPALSRKRKK EVDATSPAPS TSSTVKTEGA
EATPGAQKRK KSTKEKAGPK GSKVSEEQTQ PPSPAGAGMS TAMGRSPSPK TSLSAPPNTS
STENPKTVAK CQVTPRRNVL QKRPVIVKVL STTKPFEYET PEMEKKIMFH ATVATQTQFF
HVKVLNTSLK EKFNGKKIII ISDYLEYDSL LEVNEESTVS EAGPNQTFEV PNKIINRAKE
TLKIDILHKQ ASGNIVYGVF MLHKKTVNQK TTIYEIQDDR GKMDVVGTGQ CHNIPCEEGD
KLQLFCFRLR KKNQMSKLIS EMHSFIQIKK KTNPRNNDPK SMKLPQEQRQ LPYPSEASTT
FPESHLRTPQ MPPTTPSSSF FTKLKPRLKT EPEEVSIEDS AQSDLKEVMV LNATESFVYE
PKEQKKMFHA TVATENEVFR VKVFNIDLKE KFTPKKIIAI ANYVCRNGFL EVYPFTLVAD
VNADRNMEIP KGLIRSASVT PKINQLCSQT KGSFVNGVFE VHKKNVRGEF TYYEIQDNTG
KMEVVVHGRL TTINCEEGDK LKLTCFELAP KSGNTGELRS VIHSHIKVIK TRKNKKDILN
PDSSMETSPD FFF*

speed

0.68 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 1 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr1:158986477G>CN/A show variant in all transcripts IGV

HGNC symbol

IFI16

Ensembl transcript ID

ENST00000340979

Genbank transcript ID

N/A

UniProt peptide

Q16666

alteration type

single base exchange

alteration region

CDS

DNA changes

c.536G>C
cDNA.826G>C
g.16720G>C

AA changes

S179T Score: 58 explain score(s)

position(s) of altered AA
if AA alteration in CDS

179

frameshift

known variant

Reference ID: rs866484

database	homozygous (C/C)	heterozygous	allele carriers
1000G	1079	1028	2107
ExAC	-	-	-

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K4me1, Histone, Histone 3 Lysine 4 Mono-Methylation
H3K9me1, Histone, Histone 3 Lysine 9 mono-methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-1.15	0
	-0.162	0
(flanking)	-0.03	0.001

explain score(s) and/or inspect your position(s) in in UCSC Genome Browser

splice sites

effect	gDNA position	score	wt detection sequence	exon-intron border
Acc increased	16715	wt: 0.44 / mu: 0.50	wt: ACCTCATTGTCAGCTCCACCCAACAGTTCTTCAACTGAGGT mu: ACCTCATTGTCAGCTCCACCCAACACTTCTTCAACTGAGGT	accc\|AACA
Acc increased	16731	wt: 0.23 / mu: 0.51	wt: CACCCAACAGTTCTTCAACTGAGGTACACTCTTCCTGGTCC mu: CACCCAACACTTCTTCAACTGAGGTACACTCTTCCTGGTCC	actg\|AGGT
Acc marginally increased	16720	wt: 0.2585 / mu: 0.2842 (marginal change - not scored)	wt: ATTGTCAGCTCCACCCAACAGTTCTTCAACTGAGGTACACT mu: ATTGTCAGCTCCACCCAACACTTCTTCAACTGAGGTACACT	acag\|TTCT
Donor marginally increased	16712	wt: 0.7885 / mu: 0.8632 (marginal change - not scored)	wt: GCTCCACCCAACAGT mu: GCTCCACCCAACACT	TCCA\|ccca
Acc gained	16728	0.45	mu: CTCCACCCAACACTTCTTCAACTGAGGTACACTCTTCCTGG	tcaa\|CTGA

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

179

mutated

all conserved

179

Ptroglodytes

all conserved

ENSPTRG00000001518

179

Mmulatta

all conserved

ENSMMUG00000004490

179

Fcatus

no homologue

Mmusculus

no homologue

Ggallus

no homologue

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
189	389	DOMAIN	HIN-200 1.	might get lost (downstream of altered splice site)
192	393	REGION	Interaction with TP53 C-terminus.	might get lost (downstream of altered splice site)
205	212	STRAND		might get lost (downstream of altered splice site)
214	214	MOD_RES	N6-acetyllysine.	might get lost (downstream of altered splice site)
216	219	STRAND		might get lost (downstream of altered splice site)
218	218	MUTAGEN	Y->A: Abolishes TP53-mediated transcriptional activation; when associated with A-267.	might get lost (downstream of altered splice site)
222	222	MUTAGEN	E->A: Abolishes TP53-mediated transcriptional activation; when associated with A-272.	might get lost (downstream of altered splice site)
225	234	STRAND		might get lost (downstream of altered splice site)
239	244	STRAND		might get lost (downstream of altered splice site)
247	253	HELIX		might get lost (downstream of altered splice site)
254	257	STRAND		might get lost (downstream of altered splice site)
258	261	COMPBIAS	Poly-Ile.	might get lost (downstream of altered splice site)
259	267	STRAND		might get lost (downstream of altered splice site)
267	267	MUTAGEN	Y->A: Abolishes TP53-mediated transcriptional activation; when associated with A-218.	might get lost (downstream of altered splice site)
270	273	STRAND		might get lost (downstream of altered splice site)
272	272	MUTAGEN	E->A: Abolishes TP53-mediated transcriptional activation; when associated with A-222.	might get lost (downstream of altered splice site)
278	281	STRAND		might get lost (downstream of altered splice site)
284	286	HELIX		might get lost (downstream of altered splice site)
292	298	HELIX		might get lost (downstream of altered splice site)
304	307	HELIX		might get lost (downstream of altered splice site)
315	327	STRAND		might get lost (downstream of altered splice site)
329	338	STRAND		might get lost (downstream of altered splice site)
341	348	STRAND		might get lost (downstream of altered splice site)
349	351	HELIX		might get lost (downstream of altered splice site)
361	372	STRAND		might get lost (downstream of altered splice site)
375	379	STRAND		might get lost (downstream of altered splice site)
385	388	STRAND		might get lost (downstream of altered splice site)
444	444	MOD_RES	N6-acetyllysine.	might get lost (downstream of altered splice site)
451	451	MOD_RES	N6-acetyllysine.	might get lost (downstream of altered splice site)
561	561	CROSSLNK	Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO-1).	might get lost (downstream of altered splice site)
561	561	MOD_RES	N6-acetyllysine.	might get lost (downstream of altered splice site)
562	761	DOMAIN	HIN-200 2.	might get lost (downstream of altered splice site)
571	766	REGION	Interaction with TP53 core domain.	might get lost (downstream of altered splice site)
578	585	STRAND		might get lost (downstream of altered splice site)
589	592	STRAND		might get lost (downstream of altered splice site)
593	596	TURN		might get lost (downstream of altered splice site)
597	605	STRAND		might get lost (downstream of altered splice site)
598	598	MOD_RES	N6-acetyllysine.	might get lost (downstream of altered splice site)
610	615	STRAND		might get lost (downstream of altered splice site)
614	614	MOD_RES	N6-acetyllysine.	might get lost (downstream of altered splice site)
618	620	HELIX		might get lost (downstream of altered splice site)
621	624	TURN		might get lost (downstream of altered splice site)
627	627	MUTAGEN	K->A: Impairs DNA binding; when associated with A-663; A-667; A-670; A- 674; A-732; A-734 and A-759.	might get lost (downstream of altered splice site)
629	634	STRAND		might get lost (downstream of altered splice site)
636	638	STRAND		might get lost (downstream of altered splice site)
641	644	STRAND		might get lost (downstream of altered splice site)
648	652	STRAND		might get lost (downstream of altered splice site)
655	657	STRAND		might get lost (downstream of altered splice site)
663	663	MUTAGEN	K->A: Impairs DNA binding; when associated with A-627; A-667; A-670; A- 674; A-732; A-734 and A-759.	might get lost (downstream of altered splice site)
663	670	HELIX		might get lost (downstream of altered splice site)
667	667	MUTAGEN	R->A: Impairs DNA binding; when associated with A-627; A-663; A-670; A- 674; A-732; A-734 and A-759.	might get lost (downstream of altered splice site)
670	670	MUTAGEN	S->A: Impairs DNA binding; when associated with A-627; A-663; A-667; A- 674; A-732; A-734 and A-759.	might get lost (downstream of altered splice site)
674	674	MUTAGEN	K->A: Impairs DNA binding; when associated with A-627; A-663; A-667; A- 670; A-732; A-734 and A-759.	might get lost (downstream of altered splice site)
675	679	HELIX		might get lost (downstream of altered splice site)
683	683	CONFLICT	K -> R (in Ref. 4; AAM96005).	might get lost (downstream of altered splice site)
685	699	STRAND		might get lost (downstream of altered splice site)
702	709	STRAND		might get lost (downstream of altered splice site)
712	718	STRAND		might get lost (downstream of altered splice site)
720	724	HELIX		might get lost (downstream of altered splice site)
723	723	CONFLICT	T -> N (in Ref. 1; AAA58683 and 2; AAB32519).	might get lost (downstream of altered splice site)
732	732	MUTAGEN	K->A: Impairs DNA binding; when associated with A-627; A-663; A-667; A- 670; A- 674; A-734 and A-759.	might get lost (downstream of altered splice site)
732	741	STRAND		might get lost (downstream of altered splice site)
734	734	MUTAGEN	K->A: Impairs DNA binding; when associated with A-627; A-663; A-667; A- 670; A- 674; A-732 and A-759.	might get lost (downstream of altered splice site)
737	737	CONFLICT	C -> S (in Ref. 1; AAA58683 and 2; AAB32519).	might get lost (downstream of altered splice site)
744	747	TURN		might get lost (downstream of altered splice site)
749	761	STRAND		might get lost (downstream of altered splice site)
759	759	MUTAGEN	K->A: Impairs DNA binding; when associated with A-627; A-663; A-667; A- 670; A- 674; A-732 and A-734.	might get lost (downstream of altered splice site)
764	766	TURN		might get lost (downstream of altered splice site)
780	780	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2022 / 2022

position (AA) of stopcodon in wt / mu AA sequence

674 / 674

position of stopcodon in wt / mu cDNA

2312 / 2312

poly(A) signal

N/A

conservation
nucleotide level for all changes - no scoring up to now

N/A

position of start ATG in wt / mu cDNA

291 / 291

chromosome

strand

last intron/exon boundary

2232

theoretical NMD boundary in CDS

1891

length of CDS

2022

coding sequence (CDS) position

536

cDNA position
(for ins/del: last normal base / first normal base)

826

gDNA position
(for ins/del: last normal base / first normal base)

16720

chromosomal position
(for ins/del: last normal base / first normal base)

158986477

original gDNA sequence snippet

ATTGTCAGCTCCACCCAACAGTTCTTCAACTGAGGTACACT

altered gDNA sequence snippet

ATTGTCAGCTCCACCCAACACTTCTTCAACTGAGGTACACT

original cDNA sequence snippet

ATTGTCAGCTCCACCCAACAGTTCTTCAACTGAGAACCCGA

altered cDNA sequence snippet

ATTGTCAGCTCCACCCAACACTTCTTCAACTGAGAACCCGA

wildtype AA sequence

MGKKYKNIVL LKGLEVINDY HFRMVKSLLS NDLKLNLKMR EEYDKIQIAD LMEEKFRGDA
GLGKLIKIFE DIPTLEDLAE TLKKEKLKVK GPALSRKRKK EVDATSPAPS TSSTVKTEGA
EATPGAQKRK KSTKEKAGPK GSKVSEEQTQ PPSPAGAGMS TAMGRSPSPK TSLSAPPNSS
STENPKTVAK CQVTPRRNVL QKRPVIVKVL STTKPFEYET PEMEKKIMFH ATVATQTQFF
HVKVLNTSLK EKFNGKKIII ISDYLEYDSL LEVNEESTVS EAGPNQTFEV PNKIINRAKE
TLKIDILHKQ ASGNIVYGVF MLHKKTVNQK TTIYEIQDDR GKMDVVGTGQ CHNIPCEEGD
KLQLFCFRLR KKNQMSKLIS EMHSFIQIKK KTNPRNNDPK SMKLPQEQRQ LPYPSEASTT
FPESHLRTPQ MPPTTPSSSF FTKLKPRLKT EPEEVSIEDS AQSDLKEVMV LNATESFVYE
PKEQKKMFHA TVATENEVFR VKVFNIDLKE KFTPKKIIAI ANYVCRNGFL EVYPFTLVAD
VNADRNMEIP KGLIRSASVT PKINQLCSQT KGSFVNGVFE VHKKNVRGEF TYYEIQDNTG
KMEVVVHGRL TTINCEEGDK LKLTCFELAP KSGNTGELRS VIHSHIKVIK TRKNKKDILN
PDSSMETSPD FFF*

mutated AA sequence

MGKKYKNIVL LKGLEVINDY HFRMVKSLLS NDLKLNLKMR EEYDKIQIAD LMEEKFRGDA
GLGKLIKIFE DIPTLEDLAE TLKKEKLKVK GPALSRKRKK EVDATSPAPS TSSTVKTEGA
EATPGAQKRK KSTKEKAGPK GSKVSEEQTQ PPSPAGAGMS TAMGRSPSPK TSLSAPPNTS
STENPKTVAK CQVTPRRNVL QKRPVIVKVL STTKPFEYET PEMEKKIMFH ATVATQTQFF
HVKVLNTSLK EKFNGKKIII ISDYLEYDSL LEVNEESTVS EAGPNQTFEV PNKIINRAKE
TLKIDILHKQ ASGNIVYGVF MLHKKTVNQK TTIYEIQDDR GKMDVVGTGQ CHNIPCEEGD
KLQLFCFRLR KKNQMSKLIS EMHSFIQIKK KTNPRNNDPK SMKLPQEQRQ LPYPSEASTT
FPESHLRTPQ MPPTTPSSSF FTKLKPRLKT EPEEVSIEDS AQSDLKEVMV LNATESFVYE
PKEQKKMFHA TVATENEVFR VKVFNIDLKE KFTPKKIIAI ANYVCRNGFL EVYPFTLVAD
VNADRNMEIP KGLIRSASVT PKINQLCSQT KGSFVNGVFE VHKKNVRGEF TYYEIQDNTG
KMEVVVHGRL TTINCEEGDK LKLTCFELAP KSGNTGELRS VIHSHIKVIK TRKNKKDILN
PDSSMETSPD FFF*

speed

0.63 s

mutation t@sting

documentation

Prediction

polymorphism

Model: without_aae, prob: 0.999999924054889 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

homozygous in TGP or ExAC
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr1:158986477G>CN/A show variant in all transcripts IGV

HGNC symbol

IFI16

Ensembl transcript ID

ENST00000359709

Genbank transcript ID

NM_001206567

UniProt peptide

Q16666

alteration type

single base exchange

alteration region

intron

DNA changes

g.16720G>C

AA changes

N/A

position(s) of altered AA
if AA alteration in CDS

N/A

frameshift

N/A

known variant

Reference ID: rs866484

database	homozygous (C/C)	heterozygous	allele carriers
1000G	1079	1028	2107
ExAC	-	-	-

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K4me1, Histone, Histone 3 Lysine 4 Mono-Methylation
H3K9me1, Histone, Histone 3 Lysine 9 mono-methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-1.15	0
	-0.162	0
(flanking)	-0.03	0.001

explain score(s) and/or inspect your position(s) in in UCSC Genome Browser

splice sites

effect	gDNA position	score	wt detection sequence	exon-intron border
Acc increased	16715	wt: 0.44 / mu: 0.50	wt: ACCTCATTGTCAGCTCCACCCAACAGTTCTTCAACTGAGGT mu: ACCTCATTGTCAGCTCCACCCAACACTTCTTCAACTGAGGT	accc\|AACA
Acc increased	16731	wt: 0.23 / mu: 0.51	wt: CACCCAACAGTTCTTCAACTGAGGTACACTCTTCCTGGTCC mu: CACCCAACACTTCTTCAACTGAGGTACACTCTTCCTGGTCC	actg\|AGGT
Acc marginally increased	16720	wt: 0.2585 / mu: 0.2842 (marginal change - not scored)	wt: ATTGTCAGCTCCACCCAACAGTTCTTCAACTGAGGTACACT mu: ATTGTCAGCTCCACCCAACACTTCTTCAACTGAGGTACACT	acag\|TTCT
Donor marginally increased	16712	wt: 0.7885 / mu: 0.8632 (marginal change - not scored)	wt: GCTCCACCCAACAGT mu: GCTCCACCCAACACT	TCCA\|ccca
Acc gained	16728	0.45	mu: CTCCACCCAACACTTCTTCAACTGAGGTACACTCTTCCTGG	tcaa\|CTGA

distance from splice site

700

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

N/A

protein features

start (aa)	end (aa)	feature	details
1	150	COMPBIAS	Lys-rich.	might get lost (downstream of altered splice site)
128	128	MUTAGEN	K->Q: Predominant cytoplasmic, reduces nuclear localization (mimics non- acetylated state).	might get lost (downstream of altered splice site)
128	128	MUTAGEN	K->R: Minor effect on nuclear localization (mimics acetylated state).	might get lost (downstream of altered splice site)
128	131	MOTIF	Nuclear localization signal.	might get lost (downstream of altered splice site)
128	131	MUTAGEN	Missing: Predominant nuclear, some cytoplasmic localization.	might get lost (downstream of altered splice site)
134	136	MUTAGEN	Missing: Mostly nuclear, minor cytoplasmic localization.	might get lost (downstream of altered splice site)
134	136	MOTIF	Nuclear localization signal.	might get lost (downstream of altered splice site)
140	143	MUTAGEN	Missing: Mostly nuclear, minor cytoplasmic localization.	might get lost (downstream of altered splice site)
140	143	MOTIF	Nuclear localization signal.	might get lost (downstream of altered splice site)
153	153	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
174	174	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
189	389	DOMAIN	HIN-200 1.	might get lost (downstream of altered splice site)
192	393	REGION	Interaction with TP53 C-terminus.	might get lost (downstream of altered splice site)
205	212	STRAND		might get lost (downstream of altered splice site)
214	214	MOD_RES	N6-acetyllysine.	might get lost (downstream of altered splice site)
216	219	STRAND		might get lost (downstream of altered splice site)
218	218	MUTAGEN	Y->A: Abolishes TP53-mediated transcriptional activation; when associated with A-267.	might get lost (downstream of altered splice site)
222	222	MUTAGEN	E->A: Abolishes TP53-mediated transcriptional activation; when associated with A-272.	might get lost (downstream of altered splice site)
225	234	STRAND		might get lost (downstream of altered splice site)
239	244	STRAND		might get lost (downstream of altered splice site)
247	253	HELIX		might get lost (downstream of altered splice site)
254	257	STRAND		might get lost (downstream of altered splice site)
258	261	COMPBIAS	Poly-Ile.	might get lost (downstream of altered splice site)
259	267	STRAND		might get lost (downstream of altered splice site)
267	267	MUTAGEN	Y->A: Abolishes TP53-mediated transcriptional activation; when associated with A-218.	might get lost (downstream of altered splice site)
270	273	STRAND		might get lost (downstream of altered splice site)
272	272	MUTAGEN	E->A: Abolishes TP53-mediated transcriptional activation; when associated with A-222.	might get lost (downstream of altered splice site)
278	281	STRAND		might get lost (downstream of altered splice site)
284	286	HELIX		might get lost (downstream of altered splice site)
292	298	HELIX		might get lost (downstream of altered splice site)
304	307	HELIX		might get lost (downstream of altered splice site)
315	327	STRAND		might get lost (downstream of altered splice site)
329	338	STRAND		might get lost (downstream of altered splice site)
341	348	STRAND		might get lost (downstream of altered splice site)
349	351	HELIX		might get lost (downstream of altered splice site)
361	372	STRAND		might get lost (downstream of altered splice site)
375	379	STRAND		might get lost (downstream of altered splice site)
385	388	STRAND		might get lost (downstream of altered splice site)
444	444	MOD_RES	N6-acetyllysine.	might get lost (downstream of altered splice site)
451	451	MOD_RES	N6-acetyllysine.	might get lost (downstream of altered splice site)
561	561	CROSSLNK	Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO-1).	might get lost (downstream of altered splice site)
561	561	MOD_RES	N6-acetyllysine.	might get lost (downstream of altered splice site)
562	761	DOMAIN	HIN-200 2.	might get lost (downstream of altered splice site)
571	766	REGION	Interaction with TP53 core domain.	might get lost (downstream of altered splice site)
578	585	STRAND		might get lost (downstream of altered splice site)
589	592	STRAND		might get lost (downstream of altered splice site)
593	596	TURN		might get lost (downstream of altered splice site)
597	605	STRAND		might get lost (downstream of altered splice site)
598	598	MOD_RES	N6-acetyllysine.	might get lost (downstream of altered splice site)
610	615	STRAND		might get lost (downstream of altered splice site)
614	614	MOD_RES	N6-acetyllysine.	might get lost (downstream of altered splice site)
618	620	HELIX		might get lost (downstream of altered splice site)
621	624	TURN		might get lost (downstream of altered splice site)
627	627	MUTAGEN	K->A: Impairs DNA binding; when associated with A-663; A-667; A-670; A- 674; A-732; A-734 and A-759.	might get lost (downstream of altered splice site)
629	634	STRAND		might get lost (downstream of altered splice site)
636	638	STRAND		might get lost (downstream of altered splice site)
641	644	STRAND		might get lost (downstream of altered splice site)
648	652	STRAND		might get lost (downstream of altered splice site)
655	657	STRAND		might get lost (downstream of altered splice site)
663	663	MUTAGEN	K->A: Impairs DNA binding; when associated with A-627; A-667; A-670; A- 674; A-732; A-734 and A-759.	might get lost (downstream of altered splice site)
663	670	HELIX		might get lost (downstream of altered splice site)
667	667	MUTAGEN	R->A: Impairs DNA binding; when associated with A-627; A-663; A-670; A- 674; A-732; A-734 and A-759.	might get lost (downstream of altered splice site)
670	670	MUTAGEN	S->A: Impairs DNA binding; when associated with A-627; A-663; A-667; A- 674; A-732; A-734 and A-759.	might get lost (downstream of altered splice site)
674	674	MUTAGEN	K->A: Impairs DNA binding; when associated with A-627; A-663; A-667; A- 670; A-732; A-734 and A-759.	might get lost (downstream of altered splice site)
675	679	HELIX		might get lost (downstream of altered splice site)
683	683	CONFLICT	K -> R (in Ref. 4; AAM96005).	might get lost (downstream of altered splice site)
685	699	STRAND		might get lost (downstream of altered splice site)
702	709	STRAND		might get lost (downstream of altered splice site)
712	718	STRAND		might get lost (downstream of altered splice site)
720	724	HELIX		might get lost (downstream of altered splice site)
723	723	CONFLICT	T -> N (in Ref. 1; AAA58683 and 2; AAB32519).	might get lost (downstream of altered splice site)
732	732	MUTAGEN	K->A: Impairs DNA binding; when associated with A-627; A-663; A-667; A- 670; A- 674; A-734 and A-759.	might get lost (downstream of altered splice site)
732	741	STRAND		might get lost (downstream of altered splice site)
734	734	MUTAGEN	K->A: Impairs DNA binding; when associated with A-627; A-663; A-667; A- 670; A- 674; A-732 and A-759.	might get lost (downstream of altered splice site)
737	737	CONFLICT	C -> S (in Ref. 1; AAA58683 and 2; AAB32519).	might get lost (downstream of altered splice site)
744	747	TURN		might get lost (downstream of altered splice site)
749	761	STRAND		might get lost (downstream of altered splice site)
759	759	MUTAGEN	K->A: Impairs DNA binding; when associated with A-627; A-663; A-667; A- 670; A- 674; A-732 and A-734.	might get lost (downstream of altered splice site)
764	766	TURN		might get lost (downstream of altered splice site)
780	780	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)

length of protein

N/A

AA sequence altered

N/A

position of stopcodon in wt / mu CDS

N/A

position (AA) of stopcodon in wt / mu AA sequence

N/A

position of stopcodon in wt / mu cDNA

N/A

poly(A) signal

N/A

conservation
nucleotide level for all changes - no scoring up to now

N/A

position of start ATG in wt / mu cDNA

173 / 173

chromosome

strand

last intron/exon boundary

2282

theoretical NMD boundary in CDS

2059

length of CDS

2190

coding sequence (CDS) position

N/A

cDNA position
(for ins/del: last normal base / first normal base)

N/A

gDNA position
(for ins/del: last normal base / first normal base)

16720

chromosomal position
(for ins/del: last normal base / first normal base)

158986477

original gDNA sequence snippet

ATTGTCAGCTCCACCCAACAGTTCTTCAACTGAGGTACACT

altered gDNA sequence snippet

ATTGTCAGCTCCACCCAACACTTCTTCAACTGAGGTACACT

original cDNA sequence snippet

N/A

altered cDNA sequence snippet

N/A

wildtype AA sequence

MGKKYKNIVL LKGLEVINDY HFRMVKSLLS NDLKLNLKMR EEYDKIQIAD LMEEKFRGDA
GLGKLIKIFE DIPTLEDLAE TLKKEKLKVK GPALSRKRKK EVDATSPAPS TSSTVKTEGA
EATPGAQNPK TVAKCQVTPR RNVLQKRPVI VKVLSTTKPF EYETPEMEKK IMFHATVATQ
TQFFHVKVLN TSLKEKFNGK KIIIISDYLE YDSLLEVNEE STVSEAGPNQ TFEVPNKIIN
RAKETLKIDI LHKQASGNIV YGVFMLHKKT VNQKTTIYEI QDDRGKMDVV GTGQCHNIPC
EEGDKLQLFC FRLRKKNQMS KLISEMHSFI QIKKKTNPRN NDPKSMKLPQ EQRQLPYPSE
ASTTFPESHL RTPQMPPTTP SSSFFTKKSE DTISKMNDFM RMQILKEGSH FPGPFMTSIG
PAESHPHTPQ MPPSTPSSSF LTTKSEDTIS KMNDFMRMQI LKEGSHFPGP FMTSIGPAES
HPHTPQMPPS TPSSSFLTTL KPRLKTEPEE VSIEDSAQSD LKEVMVLNAT ESFVYEPKEQ
KKMFHATVAT ENEVFRVKVF NIDLKEKFTP KKIIAIANYV CRNGFLEVYP FTLVADVNAD
RNMEIPKGLI RSASVTPKIN QLCSQTKGSF VNGVFEVHKK NVRGEFTYYE IQDNTGKMEV
VVHGRLTTIN CEEGDKLKLT CFELAPKSGN TGELRSVIHS HIKVIKTRKN KKDILNPDSS
METSPDFFF*

mutated AA sequence

N/A

speed

0.96 s

mutation t@sting

documentation

Prediction

polymorphism

Model: without_aae, prob: 0.999999924054889 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

homozygous in TGP or ExAC
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr1:158986477G>CN/A show variant in all transcripts IGV

HGNC symbol

IFI16

Ensembl transcript ID

ENST00000430894

Genbank transcript ID

NM_001206567

UniProt peptide

Q16666

alteration type

single base exchange

alteration region

intron

DNA changes

g.16720G>C

AA changes

N/A

position(s) of altered AA
if AA alteration in CDS

N/A

frameshift

N/A

known variant

Reference ID: rs866484

database	homozygous (C/C)	heterozygous	allele carriers
1000G	1079	1028	2107
ExAC	-	-	-

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K4me1, Histone, Histone 3 Lysine 4 Mono-Methylation
H3K9me1, Histone, Histone 3 Lysine 9 mono-methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-1.15	0
	-0.162	0
(flanking)	-0.03	0.001

explain score(s) and/or inspect your position(s) in in UCSC Genome Browser

splice sites

effect	gDNA position	score	wt detection sequence	exon-intron border
Acc increased	16715	wt: 0.44 / mu: 0.50	wt: ACCTCATTGTCAGCTCCACCCAACAGTTCTTCAACTGAGGT mu: ACCTCATTGTCAGCTCCACCCAACACTTCTTCAACTGAGGT	accc\|AACA
Acc increased	16731	wt: 0.23 / mu: 0.51	wt: CACCCAACAGTTCTTCAACTGAGGTACACTCTTCCTGGTCC mu: CACCCAACACTTCTTCAACTGAGGTACACTCTTCCTGGTCC	actg\|AGGT
Acc marginally increased	16720	wt: 0.2585 / mu: 0.2842 (marginal change - not scored)	wt: ATTGTCAGCTCCACCCAACAGTTCTTCAACTGAGGTACACT mu: ATTGTCAGCTCCACCCAACACTTCTTCAACTGAGGTACACT	acag\|TTCT
Donor marginally increased	16712	wt: 0.7885 / mu: 0.8632 (marginal change - not scored)	wt: GCTCCACCCAACAGT mu: GCTCCACCCAACACT	TCCA\|ccca
Acc gained	16728	0.45	mu: CTCCACCCAACACTTCTTCAACTGAGGTACACTCTTCCTGG	tcaa\|CTGA

distance from splice site

700

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

N/A

protein features

start (aa)	end (aa)	feature	details
1	150	COMPBIAS	Lys-rich.	might get lost (downstream of altered splice site)
128	131	MOTIF	Nuclear localization signal.	might get lost (downstream of altered splice site)
128	131	MUTAGEN	Missing: Predominant nuclear, some cytoplasmic localization.	might get lost (downstream of altered splice site)
134	136	MUTAGEN	Missing: Mostly nuclear, minor cytoplasmic localization.	might get lost (downstream of altered splice site)
134	136	MOTIF	Nuclear localization signal.	might get lost (downstream of altered splice site)
140	143	MOTIF	Nuclear localization signal.	might get lost (downstream of altered splice site)
140	143	MUTAGEN	Missing: Mostly nuclear, minor cytoplasmic localization.	might get lost (downstream of altered splice site)
153	153	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
174	174	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
189	389	DOMAIN	HIN-200 1.	might get lost (downstream of altered splice site)
192	393	REGION	Interaction with TP53 C-terminus.	might get lost (downstream of altered splice site)
205	212	STRAND		might get lost (downstream of altered splice site)
214	214	MOD_RES	N6-acetyllysine.	might get lost (downstream of altered splice site)
216	219	STRAND		might get lost (downstream of altered splice site)
218	218	MUTAGEN	Y->A: Abolishes TP53-mediated transcriptional activation; when associated with A-267.	might get lost (downstream of altered splice site)
222	222	MUTAGEN	E->A: Abolishes TP53-mediated transcriptional activation; when associated with A-272.	might get lost (downstream of altered splice site)
225	234	STRAND		might get lost (downstream of altered splice site)
239	244	STRAND		might get lost (downstream of altered splice site)
247	253	HELIX		might get lost (downstream of altered splice site)
254	257	STRAND		might get lost (downstream of altered splice site)
258	261	COMPBIAS	Poly-Ile.	might get lost (downstream of altered splice site)
259	267	STRAND		might get lost (downstream of altered splice site)
267	267	MUTAGEN	Y->A: Abolishes TP53-mediated transcriptional activation; when associated with A-218.	might get lost (downstream of altered splice site)
270	273	STRAND		might get lost (downstream of altered splice site)
272	272	MUTAGEN	E->A: Abolishes TP53-mediated transcriptional activation; when associated with A-222.	might get lost (downstream of altered splice site)
278	281	STRAND		might get lost (downstream of altered splice site)
284	286	HELIX		might get lost (downstream of altered splice site)
292	298	HELIX		might get lost (downstream of altered splice site)
304	307	HELIX		might get lost (downstream of altered splice site)
315	327	STRAND		might get lost (downstream of altered splice site)
329	338	STRAND		might get lost (downstream of altered splice site)
341	348	STRAND		might get lost (downstream of altered splice site)
349	351	HELIX		might get lost (downstream of altered splice site)
361	372	STRAND		might get lost (downstream of altered splice site)
375	379	STRAND		might get lost (downstream of altered splice site)
385	388	STRAND		might get lost (downstream of altered splice site)
444	444	MOD_RES	N6-acetyllysine.	might get lost (downstream of altered splice site)
451	451	MOD_RES	N6-acetyllysine.	might get lost (downstream of altered splice site)
561	561	CROSSLNK	Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO-1).	might get lost (downstream of altered splice site)
561	561	MOD_RES	N6-acetyllysine.	might get lost (downstream of altered splice site)
562	761	DOMAIN	HIN-200 2.	might get lost (downstream of altered splice site)
571	766	REGION	Interaction with TP53 core domain.	might get lost (downstream of altered splice site)
578	585	STRAND		might get lost (downstream of altered splice site)
589	592	STRAND		might get lost (downstream of altered splice site)
593	596	TURN		might get lost (downstream of altered splice site)
597	605	STRAND		might get lost (downstream of altered splice site)
598	598	MOD_RES	N6-acetyllysine.	might get lost (downstream of altered splice site)
610	615	STRAND		might get lost (downstream of altered splice site)
614	614	MOD_RES	N6-acetyllysine.	might get lost (downstream of altered splice site)
618	620	HELIX		might get lost (downstream of altered splice site)
621	624	TURN		might get lost (downstream of altered splice site)
627	627	MUTAGEN	K->A: Impairs DNA binding; when associated with A-663; A-667; A-670; A- 674; A-732; A-734 and A-759.	might get lost (downstream of altered splice site)
629	634	STRAND		might get lost (downstream of altered splice site)
636	638	STRAND		might get lost (downstream of altered splice site)
641	644	STRAND		might get lost (downstream of altered splice site)
648	652	STRAND		might get lost (downstream of altered splice site)
655	657	STRAND		might get lost (downstream of altered splice site)
663	663	MUTAGEN	K->A: Impairs DNA binding; when associated with A-627; A-667; A-670; A- 674; A-732; A-734 and A-759.	might get lost (downstream of altered splice site)
663	670	HELIX		might get lost (downstream of altered splice site)
667	667	MUTAGEN	R->A: Impairs DNA binding; when associated with A-627; A-663; A-670; A- 674; A-732; A-734 and A-759.	might get lost (downstream of altered splice site)
670	670	MUTAGEN	S->A: Impairs DNA binding; when associated with A-627; A-663; A-667; A- 674; A-732; A-734 and A-759.	might get lost (downstream of altered splice site)
674	674	MUTAGEN	K->A: Impairs DNA binding; when associated with A-627; A-663; A-667; A- 670; A-732; A-734 and A-759.	might get lost (downstream of altered splice site)
675	679	HELIX		might get lost (downstream of altered splice site)
683	683	CONFLICT	K -> R (in Ref. 4; AAM96005).	might get lost (downstream of altered splice site)
685	699	STRAND		might get lost (downstream of altered splice site)
702	709	STRAND		might get lost (downstream of altered splice site)
712	718	STRAND		might get lost (downstream of altered splice site)
720	724	HELIX		might get lost (downstream of altered splice site)
723	723	CONFLICT	T -> N (in Ref. 1; AAA58683 and 2; AAB32519).	might get lost (downstream of altered splice site)
732	732	MUTAGEN	K->A: Impairs DNA binding; when associated with A-627; A-663; A-667; A- 670; A- 674; A-734 and A-759.	might get lost (downstream of altered splice site)
732	741	STRAND		might get lost (downstream of altered splice site)
734	734	MUTAGEN	K->A: Impairs DNA binding; when associated with A-627; A-663; A-667; A- 670; A- 674; A-732 and A-759.	might get lost (downstream of altered splice site)
737	737	CONFLICT	C -> S (in Ref. 1; AAA58683 and 2; AAB32519).	might get lost (downstream of altered splice site)
744	747	TURN		might get lost (downstream of altered splice site)
749	761	STRAND		might get lost (downstream of altered splice site)
759	759	MUTAGEN	K->A: Impairs DNA binding; when associated with A-627; A-663; A-667; A- 670; A- 674; A-732 and A-734.	might get lost (downstream of altered splice site)
764	766	TURN		might get lost (downstream of altered splice site)
780	780	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)

length of protein

N/A

AA sequence altered

N/A

position of stopcodon in wt / mu CDS

N/A

position (AA) of stopcodon in wt / mu AA sequence

N/A

position of stopcodon in wt / mu cDNA

N/A

poly(A) signal

N/A

conservation
nucleotide level for all changes - no scoring up to now

N/A

position of start ATG in wt / mu cDNA

161 / 161

chromosome

strand

last intron/exon boundary

2282

theoretical NMD boundary in CDS

2071

length of CDS

2202

coding sequence (CDS) position

N/A

cDNA position
(for ins/del: last normal base / first normal base)

N/A

gDNA position
(for ins/del: last normal base / first normal base)

16720

chromosomal position
(for ins/del: last normal base / first normal base)

158986477

original gDNA sequence snippet

ATTGTCAGCTCCACCCAACAGTTCTTCAACTGAGGTACACT

altered gDNA sequence snippet

ATTGTCAGCTCCACCCAACACTTCTTCAACTGAGGTACACT

original cDNA sequence snippet

N/A

altered cDNA sequence snippet

N/A

wildtype AA sequence

MSVKMGKKYK NIVLLKGLEV INDYHFRMVK SLLSNDLKLN LKMREEYDKI QIADLMEEKF
RGDAGLGKLI KIFEDIPTLE DLAETLKKEK LKVKGPALSR KRKKEVDATS PAPSTSSTVK
TEGAEATPGA QNPKTVAKCQ VTPRRNVLQK RPVIVKVLST TKPFEYETPE MEKKIMFHAT
VATQTQFFHV KVLNTSLKEK FNGKKIIIIS DYLEYDSLLE VNEESTVSEA GPNQTFEVPN
KIINRAKETL KIDILHKQAS GNIVYGVFML HKKTVNQKTT IYEIQDDRGK MDVVGTGQCH
NIPCEEGDKL QLFCFRLRKK NQMSKLISEM HSFIQIKKKT NPRNNDPKSM KLPQEQRQLP
YPSEASTTFP ESHLRTPQMP PTTPSSSFFT KKSEDTISKM NDFMRMQILK EGSHFPGPFM
TSIGPAESHP HTPQMPPSTP SSSFLTTKSE DTISKMNDFM RMQILKEGSH FPGPFMTSIG
PAESHPHTPQ MPPSTPSSSF LTTLKPRLKT EPEEVSIEDS AQSDLKEVMV LNATESFVYE
PKEQKKMFHA TVATENEVFR VKVFNIDLKE KFTPKKIIAI ANYVCRNGFL EVYPFTLVAD
VNADRNMEIP KGLIRSASVT PKINQLCSQT KGSFVNGVFE VHKKNVRGEF TYYEIQDNTG
KMEVVVHGRL TTINCEEGDK LKLTCFELAP KSGNTGELRS VIHSHIKVIK TRKNKKDILN
PDSSMETSPD FFF*

mutated AA sequence

N/A

speed

0.96 s

MutationTaster - study a chromosomal position

Results

Taster files

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

Problems