Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.989494168173077 (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) chr3:75786684G>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.1940C>A
cDNA.2217C>A
g.48051C>A
AA changes T647K Score: 78 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 647
frameshift no
known variant Reference ID: rs201345045
databasehomozygous (T/T)heterozygousallele carriers
1000G---
ExAC57541074682
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
PhyloPPhastCons
(flanking)3.1961
2.4191
(flanking)3.1961
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased48046wt: 0.35 / mu: 0.83wt: AGAGAACTCACACCG
mu: AGAGAACTCAAACCG		 AGAA|ctca
Donor marginally increased48054wt: 0.6716 / mu: 0.7296 (marginal change - not scored)wt: CACACCGGGGAAAAG
mu: CAAACCGGGGAAAAG		 CACC|gggg
Donor marginally increased48055wt: 0.9507 / mu: 0.9670 (marginal change - not scored)wt: ACACCGGGGAAAAGC
mu: AAACCGGGGAAAAGC		 ACCG|ggga
Donor marginally increased48056wt: 0.9532 / mu: 0.9607 (marginal change - not scored)wt: CACCGGGGAAAAGCC
mu: AACCGGGGAAAAGCC		 CCGG|ggaa
distance from splice site 1659
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      647RNHTLLYIRELTPGKSPMNVMNVE
mutated  not conserved    647RNHTLLYIRELKPGKSPMNVMNV
Ptroglodytes  no homologue    
Mmulatta  no alignment  ENSMMUG00000018453  n/a
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000037001  571RQSHLNMHQGTHTGQKPYQCEEC
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
642659ZN_FINGC2H2-type 16; degenerate.lost
664664CONFLICTR -> H (in Ref. 2; AAK28319).might get lost (downstream of altered splice site)
731742ZN_FINGC2H2-type 17; degenerate.might get lost (downstream of altered splice site)
748770ZN_FINGC2H2-type 18.might get lost (downstream of altered splice site)
776798ZN_FINGC2H2-type 19.might get lost (downstream of altered splice site)
804826ZN_FINGC2H2-type 20.might get lost (downstream of altered splice site)
832854ZN_FINGC2H2-type 21.might get lost (downstream of altered splice site)
860882ZN_FINGC2H2-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 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 3
strand -1
last intron/exon boundary 405
theoretical NMD boundary in CDS 77
length of CDS 2595
coding sequence (CDS) position 1940
cDNA position
(for ins/del: last normal base / first normal base)		 2217
gDNA position
(for ins/del: last normal base / first normal base)		 48051
chromosomal position
(for ins/del: last normal base / first normal base)		 75786684
original gDNA sequence snippet ATTATACATCAGAGAACTCACACCGGGGAAAAGCCCTATGA
altered gDNA sequence snippet ATTATACATCAGAGAACTCAAACCGGGGAAAAGCCCTATGA
original cDNA sequence snippet ATTATACATCAGAGAACTCACACCGGGGAAAAGCCCTATGA
altered cDNA sequence snippet ATTATACATCAGAGAACTCAAACCGGGGAAAAGCCCTATGA
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 GKNRMDVMNV EKLFVRNHTL LYIRELKPGK SPMNVMNVEN
PFIRRQIFRS IKVFTRGRNP MNVANVEKPC QKSVLTVHHR THTGEKPYEC NECGKTFCHK
SNLSTHQGTH SGEKPYECDE CRKTFYDKTV LTIHQRTHTG EKPFECKECR KTFSQKSKLF
VHHRTHTGEK PFRCNECRKT FSQKSGLSIH QRTHTGEKPY ECKECGKTFC QKSHLSRHQQ
THIGEKSDVA EAGYVFPQNH SFFP*
speed 0.78 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