mutation t@sting

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999999881 (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

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr3:75786748C>TN/A show variant in all transcripts IGV

HGNC symbol

ZNF717

Ensembl transcript ID

ENST00000478296

Genbank transcript ID

N/A

UniProt peptide

Q9BY31

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1876G>A
cDNA.2153G>A
g.47987G>A

AA changes

D626N Score: 23 explain score(s)

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

626

frameshift

known variant

Reference ID: rs112332186

database	homozygous (T/T)	heterozygous	allele carriers
1000G	-	-	-
ExAC	1551	5666	7217

regulatory features

Gene Associated, Regulatory Feature, Gene associated regulatory feature
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K9me3, Histone, Histone 3 Lysine 9 Tri-Methylation
H4K20me3, Histone, Histone 4 Lysine 20 Tri-Methylation
ZNF274, Transcription Factor, ZNF274 Transcription Factor Binding

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.655	0.004
	-2.299	0
(flanking)	-0.932	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
Donor marginally increased	47989	wt: 0.9754 / mu: 0.9927 (marginal change - not scored)	wt: ATGGATGTAATGAAT mu: ATGAATGTAATGAAT	GGAT\|gtaa
Donor marginally increased	47984	wt: 0.8314 / mu: 0.8515 (marginal change - not scored)	wt: ACCGTATGGATGTAA mu: ACCGTATGAATGTAA	CGTA\|tgga

distance from splice site

1723

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

626

mutated

all conserved

626

Ptroglodytes

no homologue

Mmulatta

no alignment

ENSMMUG00000018453

n/a

Fcatus

no homologue

Mmusculus

all conserved

ENSMUSG00000037001

550

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
612	634	ZN_FING	C2H2-type 15.	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2595 / 2595

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

865 / 865

position of stopcodon in wt / mu cDNA

2872 / 2872

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

278 / 278

chromosome

strand

-1

last intron/exon boundary

405

theoretical NMD boundary in CDS

length of CDS

2595

coding sequence (CDS) position

1876

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

2153

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

47987

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

75786748

original gDNA sequence snippet

ACACGGGGAAAAACCGTATGGATGTAATGAATGTGGAAAAA

altered gDNA sequence snippet

ACACGGGGAAAAACCGTATGAATGTAATGAATGTGGAAAAA

original cDNA sequence snippet

ACACGGGGAAAAACCGTATGGATGTAATGAATGTGGAAAAA

altered cDNA sequence snippet

ACACGGGGAAAAACCGTATGAATGTAATGAATGTGGAAAAA

wildtype AA sequence

MLETYSSLVS LGHYITKPEM IFKLEQGAEP WIVEETPNLR LSAVQIIDDL IERSHESHDR
FFWQIVITNS NTSTQERVEL GKTFNLNSNH VLNLIINNGN SSGMKPGQFN DCQNMLFPIK
PGETQSGEKP HVCDITRRSH RHHEHLTQHH KIQTLLQTFQ CNEQGKTFNT EAMFFIHKRV
HIVQTFGKYN EYEKACNNSA VIVQVITQVG QPTCCRKSDF TKHQQTHTGE KPYECVECEK
PSISKSDLML QCKMPTEEKP YACNWCEKLF SYKSSLIIHQ RIHTGEKPYG CNECGKTFRR
KSFLTLHERT HTGDKPYKCI ECGKTFHCKS LLTLHHRTHS GEKPYQCSEC GKTFSQKSYL
TIHHRTHTGE KPYACDHCEE AFSHKSRLTV HQRTHTGEKP YECNECGKPF INKSNLRLHQ
RTHTGEKPYE CNECGKTFHR KSFLTIHQWT HTGEKPYECN ECGKTFRCKS FLTVHQRTHA
GEKPYACNEC GKTYSHKSYL TVHHRTHTGE KPYECNECGK SFHCKSFLTI HQRTHAGKKP
YECNECEKTF INKLNLGIHK RTHTGERPYE CNECGKTFRQ KSNLSTHQGT HTGEKPYVCN
ECGKTFHRKS FLTIHQRTHT GKNRMDVMNV EKLFVRNHTL LYIRELTPGK SPMNVMNVEN
PFIRRQIFRS IKVFTRGRNP MNVANVEKPC QKSVLTVHHR THTGEKPYEC NECGKTFCHK
SNLSTHQGTH SGEKPYECDE CRKTFYDKTV LTIHQRTHTG EKPFECKECR KTFSQKSKLF
VHHRTHTGEK PFRCNECRKT FSQKSGLSIH QRTHTGEKPY ECKECGKTFC QKSHLSRHQQ
THIGEKSDVA EAGYVFPQNH SFFP*

mutated AA sequence

MLETYSSLVS LGHYITKPEM IFKLEQGAEP WIVEETPNLR LSAVQIIDDL IERSHESHDR
FFWQIVITNS NTSTQERVEL GKTFNLNSNH VLNLIINNGN SSGMKPGQFN DCQNMLFPIK
PGETQSGEKP HVCDITRRSH RHHEHLTQHH KIQTLLQTFQ CNEQGKTFNT EAMFFIHKRV
HIVQTFGKYN EYEKACNNSA VIVQVITQVG QPTCCRKSDF TKHQQTHTGE KPYECVECEK
PSISKSDLML QCKMPTEEKP YACNWCEKLF SYKSSLIIHQ RIHTGEKPYG CNECGKTFRR
KSFLTLHERT HTGDKPYKCI ECGKTFHCKS LLTLHHRTHS GEKPYQCSEC GKTFSQKSYL
TIHHRTHTGE KPYACDHCEE AFSHKSRLTV HQRTHTGEKP YECNECGKPF INKSNLRLHQ
RTHTGEKPYE CNECGKTFHR KSFLTIHQWT HTGEKPYECN ECGKTFRCKS FLTVHQRTHA
GEKPYACNEC GKTYSHKSYL TVHHRTHTGE KPYECNECGK SFHCKSFLTI HQRTHAGKKP
YECNECEKTF INKLNLGIHK RTHTGERPYE CNECGKTFRQ KSNLSTHQGT HTGEKPYVCN
ECGKTFHRKS FLTIHQRTHT GKNRMNVMNV EKLFVRNHTL LYIRELTPGK SPMNVMNVEN
PFIRRQIFRS IKVFTRGRNP MNVANVEKPC QKSVLTVHHR THTGEKPYEC NECGKTFCHK
SNLSTHQGTH SGEKPYECDE CRKTFYDKTV LTIHQRTHTG EKPFECKECR KTFSQKSKLF
VHHRTHTGEK PFRCNECRKT FSQKSGLSIH QRTHTGEKPY ECKECGKTFC QKSHLSRHQQ
THIGEKSDVA EAGYVFPQNH SFFP*

speed

0.94 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