mutation t@sting

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999999826 (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)

chr3:75790448T>CN/A show variant in all transcripts IGV

HGNC symbol

ZNF717

Ensembl transcript ID

ENST00000400845

Genbank transcript ID

N/A

UniProt peptide

Q9BY31

alteration type

single base exchange

alteration region

CDS

DNA changes

c.235A>G
cDNA.523A>G
g.44287A>G

AA changes

T79A Score: 58 explain score(s)

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

frameshift

known variant

Reference ID: rs141704469

database	homozygous (C/C)	heterozygous	allele carriers
1000G	-	-	-
ExAC	731	381	1112

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K9me3, Histone, Histone 3 Lysine 9 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.76	0
	-2.71	0
(flanking)	0.03	0.078

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
Donor marginally increased	44280	wt: 0.2014 / mu: 0.2219 (marginal change - not scored)	wt: ATAGTAGAAGAAACC mu: ATAGTAGAAGAAGCC	AGTA\|gaag
Donor increased	44278	wt: 0.59 / mu: 0.75	wt: GGATAGTAGAAGAAA mu: GGATAGTAGAAGAAG	ATAG\|taga
Donor gained	44281	0.97	mu: TAGTAGAAGAAGCCC	GTAG\|aaga

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

mutated

not conserved

Ptroglodytes

no homologue

Mmulatta

not conserved

ENSMMUG00000018453

Fcatus

no homologue

Mmusculus

not conserved

ENSMUSG00000037001

123

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
15	86	DOMAIN	KRAB.	lost
202	224	ZN_FING	C2H2-type 1; degenerate.	might get lost (downstream of altered splice site)
259	270	ZN_FING	C2H2-type 2; degenerate.	might get lost (downstream of altered splice site)
276	298	ZN_FING	C2H2-type 3; degenerate.	might get lost (downstream of altered splice site)
304	326	ZN_FING	C2H2-type 4.	might get lost (downstream of altered splice site)
332	354	ZN_FING	C2H2-type 5.	might get lost (downstream of altered splice site)
360	382	ZN_FING	C2H2-type 6.	might get lost (downstream of altered splice site)
388	410	ZN_FING	C2H2-type 7.	might get lost (downstream of altered splice site)
391	391	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
396	396	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
398	398	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
402	402	MOD_RES	Phosphotyrosine.	might get lost (downstream of altered splice site)
416	438	ZN_FING	C2H2-type 8.	might get lost (downstream of altered splice site)
444	466	ZN_FING	C2H2-type 9.	might get lost (downstream of altered splice site)
472	494	ZN_FING	C2H2-type 10.	might get lost (downstream of altered splice site)
500	522	ZN_FING	C2H2-type 11.	might get lost (downstream of altered splice site)
528	550	ZN_FING	C2H2-type 12.	might get lost (downstream of altered splice site)
556	578	ZN_FING	C2H2-type 13.	might get lost (downstream of altered splice site)
584	606	ZN_FING	C2H2-type 14.	might get lost (downstream of altered splice site)
612	634	ZN_FING	C2H2-type 15.	might get lost (downstream of altered splice site)
642	659	ZN_FING	C2H2-type 16; degenerate.	might get lost (downstream of altered splice site)
664	664	CONFLICT	R -> H (in Ref. 2; AAK28319).	might get lost (downstream of altered splice site)
731	742	ZN_FING	C2H2-type 17; degenerate.	might get lost (downstream of altered splice site)
748	770	ZN_FING	C2H2-type 18.	might get lost (downstream of altered splice site)
776	798	ZN_FING	C2H2-type 19.	might get lost (downstream of altered splice site)
804	826	ZN_FING	C2H2-type 20.	might get lost (downstream of altered splice site)
832	854	ZN_FING	C2H2-type 21.	might get lost (downstream of altered splice site)
860	882	ZN_FING	C2H2-type 22.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2724 / 2724

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

908 / 908

position of stopcodon in wt / mu cDNA

3012 / 3012

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

289 / 289

chromosome

strand

-1

last intron/exon boundary

545

theoretical NMD boundary in CDS

206

length of CDS

2724

coding sequence (CDS) position

235

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

523

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

44287

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

75790448

original gDNA sequence snippet

AGCCATGGATAGTAGAAGAAACCCCAAACCTGAGACTTTCA

altered gDNA sequence snippet

AGCCATGGATAGTAGAAGAAGCCCCAAACCTGAGACTTTCA

original cDNA sequence snippet

AGCCATGGATAGTAGAAGAAACCCCAAACCTGAGACTTTCA

altered cDNA sequence snippet

AGCCATGGATAGTAGAAGAAGCCCCAAACCTGAGACTTTCA

wildtype AA sequence

MLETYNSLVS LQELVSFEEV AVHFTWEEWQ DLDDAQRTLY RDVMLETYSS LVSLGHYITK
PEMIFKLEQG AEPWIVEETP NLRLSAVQII DDLIERSHES HDRFFWQIVI TNSNTSTQER
VELGKTFNLN SNHVLNLIIN NGNSSGMKPG QFNDCQNMLF PIKPGETQSG EKPHVCDITR
RSHRHHEHLT QHHKIQTLLQ TFQCNEQGKT FNTEAMFFIH KRVHIVQTFG KYNEYEKACN
NSAVIVQVIT QVGQPTCCRK SDFTKHQQTH TGEKPYECVE CEKPSISKSD LMLQCKMPTE
EKPYACNWCE KLFSYKSSLI IHQRIHTGEK PYGCNECGKT FRRKSFLTLH ERTHTGDKPY
KCIECGKTFH CKSLLTLHHR THSGEKPYQC SECGKTFSQK SYLTIHHRTH TGEKPYACDH
CEEAFSHKSR LTVHQRTHTG EKPYECNECG KPFINKSNLR LHQRTHTGEK PYECNECGKT
FHRKSFLTIH QWTHTGEKPY ECNECGKTFR CKSFLTVHQR THAGEKPYAC NECGKTYSHK
SYLTVHHRTH TGEKPYECNE CGKSFHCKSF LTIHQRTHAG KKPYECNECE KTFINKLNLG
IHKRTHTGER PYECNECGKT FRQKSNLSTH QGTHTGEKPY VCNECGKTFH RKSFLTIHQR
THTGKNRMDV MNVEKLFVRN HTLLYIRELT PGKSPMNVMN VENPFIRRQI FRSIKVFTRG
RNPMNVANVE KPCQKSVLTV HHRTHTGEKP YECNECGKTF CHKSNLSTHQ GTHSGEKPYE
CDECRKTFYD KTVLTIHQRT HTGEKPFECK ECRKTFSQKS KLFVHHRTHT GEKPFRCNEC
RKTFSQKSGL SIHQRTHTGE KPYECKECGK TFCQKSHLSR HQQTHIGEKS DVAEAGYVFP
QNHSFFP*

mutated AA sequence

MLETYNSLVS LQELVSFEEV AVHFTWEEWQ DLDDAQRTLY RDVMLETYSS LVSLGHYITK
PEMIFKLEQG AEPWIVEEAP NLRLSAVQII DDLIERSHES HDRFFWQIVI TNSNTSTQER
VELGKTFNLN SNHVLNLIIN NGNSSGMKPG QFNDCQNMLF PIKPGETQSG EKPHVCDITR
RSHRHHEHLT QHHKIQTLLQ TFQCNEQGKT FNTEAMFFIH KRVHIVQTFG KYNEYEKACN
NSAVIVQVIT QVGQPTCCRK SDFTKHQQTH TGEKPYECVE CEKPSISKSD LMLQCKMPTE
EKPYACNWCE KLFSYKSSLI IHQRIHTGEK PYGCNECGKT FRRKSFLTLH ERTHTGDKPY
KCIECGKTFH CKSLLTLHHR THSGEKPYQC SECGKTFSQK SYLTIHHRTH TGEKPYACDH
CEEAFSHKSR LTVHQRTHTG EKPYECNECG KPFINKSNLR LHQRTHTGEK PYECNECGKT
FHRKSFLTIH QWTHTGEKPY ECNECGKTFR CKSFLTVHQR THAGEKPYAC NECGKTYSHK
SYLTVHHRTH TGEKPYECNE CGKSFHCKSF LTIHQRTHAG KKPYECNECE KTFINKLNLG
IHKRTHTGER PYECNECGKT FRQKSNLSTH QGTHTGEKPY VCNECGKTFH RKSFLTIHQR
THTGKNRMDV MNVEKLFVRN HTLLYIRELT PGKSPMNVMN VENPFIRRQI FRSIKVFTRG
RNPMNVANVE KPCQKSVLTV HHRTHTGEKP YECNECGKTF CHKSNLSTHQ GTHSGEKPYE
CDECRKTFYD KTVLTIHQRT HTGEKPFECK ECRKTFSQKS KLFVHHRTHT GEKPFRCNEC
RKTFSQKSGL SIHQRTHTGE KPYECKECGK TFCQKSHLSR HQQTHIGEKS DVAEAGYVFP
QNHSFFP*

speed

1.20 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