mutation t@sting

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999999955 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC
known disease mutation at this position (HGMD CM1512799)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr11:614318T>CN/A show variant in all transcripts IGV

HGNC symbol

IRF7

Ensembl transcript ID

ENST00000348655

Genbank transcript ID

N/A

UniProt peptide

Q92985

alteration type

single base exchange

alteration region

CDS

DNA changes

c.535A>G
cDNA.821A>G
g.1682A>G

AA changes

K179E Score: 56 explain score(s)

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

179

frameshift

known variant

Reference ID: rs1061502

database	homozygous (C/C)	heterozygous	allele carriers
1000G	300	780	1080
ExAC	4282	20425	24707

known disease mutation at this position, please check HGMD for details (HGMD ID CM1512799)

regulatory features

H3K4me2, Histone, Histone 3 Lysine 4 Di-Methylation
PolII, Polymerase, RNA Polymerase II
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation
H3K79me2, Histone, Histone 3 Lysine 79 di-methylation
H3K9ac, Histone, Histone 3 Lysine 9 Acetylation
H3K27ac, Histone, Histone 3 Lysine 27 Acetylation
H3K4me1, Histone, Histone 3 Lysine 4 Mono-Methylation
H3K4me3, Histone, Histone 3 Lysine 4 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.267	0.001
	-2.28	0
(flanking)	-0.394	0

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	1673	wt: 0.67 / mu: 0.79	wt: CAGGCCCCCTCCCTGCCCCAGCTGGTGACAAGGGGGACCTC mu: CAGGCCCCCTCCCTGCCCCAGCTGGTGACGAGGGGGACCTC	ccag\|CTGG
Acc marginally increased	1676	wt: 0.7784 / mu: 0.7825 (marginal change - not scored)	wt: GCCCCCTCCCTGCCCCAGCTGGTGACAAGGGGGACCTCCTG mu: GCCCCCTCCCTGCCCCAGCTGGTGACGAGGGGGACCTCCTG	gctg\|GTGA
Donor increased	1676	wt: 0.23 / mu: 0.97	wt: CAGCTGGTGACAAGG mu: CAGCTGGTGACGAGG	GCTG\|gtga
Donor gained	1681	0.50	mu: GGTGACGAGGGGGAC	TGAC\|gagg

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

not conserved

ENSPTRG00000003126

179

Mmulatta

all identical

ENSMMUG00000004014

193

Fcatus

no homologue

Mmusculus

not conserved

ENSMUSG00000025498

179

Ggallus

all conserved

ENSGALG00000014297

169

Trubripes

no homologue

Drerio

not conserved

ENSDARG00000045661

156

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
444	444	CROSSLNK	Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO).	might get lost (downstream of altered splice site)
446	446	CROSSLNK	Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO).	might get lost (downstream of altered splice site)
471	471	MOD_RES	Phosphoserine (By similarity).	might get lost (downstream of altered splice site)
472	472	MOD_RES	Phosphoserine (By similarity).	might get lost (downstream of altered splice site)
477	477	MOD_RES	Phosphoserine; by TBK1 and IKKE.	might get lost (downstream of altered splice site)
477	479	MUTAGEN	SLS->ALA: Complete loss of TBK1 and IKKE phosphorylation.	might get lost (downstream of altered splice site)
479	479	MOD_RES	Phosphoserine; by TBK1 and IKKE.	might get lost (downstream of altered splice site)
483	483	MOD_RES	Phosphoserine (By similarity).	might get lost (downstream of altered splice site)
484	484	MOD_RES	Phosphoserine (By similarity).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1425 / 1425

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

475 / 475

position of stopcodon in wt / mu cDNA

1711 / 1711

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

287 / 287

chromosome

strand

-1

last intron/exon boundary

1556

theoretical NMD boundary in CDS

1219

length of CDS

1425

coding sequence (CDS) position

535

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

821

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

1682

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

614318

original gDNA sequence snippet

TCCCTGCCCCAGCTGGTGACAAGGGGGACCTCCTGCTCCAG

altered gDNA sequence snippet

TCCCTGCCCCAGCTGGTGACGAGGGGGACCTCCTGCTCCAG

original cDNA sequence snippet

TCCCTGCCCCAGCTGGTGACAAGGGGGACCTCCTGCTCCAG

altered cDNA sequence snippet

TCCCTGCCCCAGCTGGTGACGAGGGGGACCTCCTGCTCCAG

wildtype AA sequence

MALAPERAAP RVLFGEWLLG EISSGCYEGL QWLDEARTCF RVPWKHFARK DLSEADARIF
KAWAVARGRW PPSSRGGGPP PEAETAERAG WKTNFRCALR STRRFVMLRD NSGDPADPHK
VYALSRELCW REGPGTDQTE AEAPAAVPPP QGGPPGPFLA HTHAGLQAPG PLPAPAGDKG
DLLLQAVQQS CLADHLLTAS WGADPVPTKA PGEGQEGLPL TGACAGGEAA APESPHQAEP
YLSPSPSACT AVQEPSPGAL DVTIMYKGRT VLQKVVGHPS CTFLYGPPDP AVRATDPQQV
AFPSPAELPD QKQLRYTEEL LRHVAPGLHL ELRGPQLWAR RMGKCKVYWE VGGPPGSASP
STPACLLPRN CDTPIFDFRV FFQELVEFRA RQRRGSPRYT IYLGFGQDLS AGRPKEKSLV
LVKLEPWLCR VHLEGTQREG VSSLDSSSLS LCLSSANSLY DDIECFLMEL EQPA*

mutated AA sequence

MALAPERAAP RVLFGEWLLG EISSGCYEGL QWLDEARTCF RVPWKHFARK DLSEADARIF
KAWAVARGRW PPSSRGGGPP PEAETAERAG WKTNFRCALR STRRFVMLRD NSGDPADPHK
VYALSRELCW REGPGTDQTE AEAPAAVPPP QGGPPGPFLA HTHAGLQAPG PLPAPAGDEG
DLLLQAVQQS CLADHLLTAS WGADPVPTKA PGEGQEGLPL TGACAGGEAA APESPHQAEP
YLSPSPSACT AVQEPSPGAL DVTIMYKGRT VLQKVVGHPS CTFLYGPPDP AVRATDPQQV
AFPSPAELPD QKQLRYTEEL LRHVAPGLHL ELRGPQLWAR RMGKCKVYWE VGGPPGSASP
STPACLLPRN CDTPIFDFRV FFQELVEFRA RQRRGSPRYT IYLGFGQDLS AGRPKEKSLV
LVKLEPWLCR VHLEGTQREG VSSLDSSSLS LCLSSANSLY DDIECFLMEL EQPA*

speed

0.50 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