Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: without_aae, prob: 0.770538927076205      (explain)
Summary
  • heterozygous 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) chr3:75790880A>GN/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 5'UTR
DNA changes cDNA.192T>C
g.43855T>C
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs75138373
databasehomozygous (G/G)heterozygousallele carriers
1000G---
ExAC05959
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K79me3, Histone, Histone 3 Lysine 79 Tri-Methylation
H3K9me3, Histone, Histone 3 Lysine 9 Tri-Methylation
H4K20me3, Histone, Histone 4 Lysine 20 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.0430.569
0.8150.556
(flanking)-0.3390.527
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites splice site change before start ATG (at aa -29) |
effectgDNA positionscoredetection sequence  exon-intron border
Acc marginally increased43847wt: 0.4832 / mu: 0.5455 (marginal change - not scored)wt: AACAGCCTGGTATCATTACAGGAGTTGGTGTCCTTTGAGGA
mu: AACAGCCTGGTATCATTACAGGAGTTGGCGTCCTTTGAGGA		 acag|GAGT
Donor gained438500.58mu: CAGGAGTTGGCGTCC GGAG|ttgg
distance from splice site 8
Kozak consensus sequence altered? no
conservation
protein level for non-synonymous changes		 N/A
protein features
start (aa)end (aa)featuredetails 
1586DOMAINKRAB.might get lost (downstream of altered splice site)
202224ZN_FINGC2H2-type 1; degenerate.might get lost (downstream of altered splice site)
259270ZN_FINGC2H2-type 2; degenerate.might get lost (downstream of altered splice site)
276298ZN_FINGC2H2-type 3; degenerate.might get lost (downstream of altered splice site)
304326ZN_FINGC2H2-type 4.might get lost (downstream of altered splice site)
332354ZN_FINGC2H2-type 5.might get lost (downstream of altered splice site)
360382ZN_FINGC2H2-type 6.might get lost (downstream of altered splice site)
388410ZN_FINGC2H2-type 7.might get lost (downstream of altered splice site)
391391MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
396396MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
398398MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
402402MOD_RESPhosphotyrosine.might get lost (downstream of altered splice site)
416438ZN_FINGC2H2-type 8.might get lost (downstream of altered splice site)
444466ZN_FINGC2H2-type 9.might get lost (downstream of altered splice site)
472494ZN_FINGC2H2-type 10.might get lost (downstream of altered splice site)
500522ZN_FINGC2H2-type 11.might get lost (downstream of altered splice site)
528550ZN_FINGC2H2-type 12.might get lost (downstream of altered splice site)
556578ZN_FINGC2H2-type 13.might get lost (downstream of altered splice site)
584606ZN_FINGC2H2-type 14.might get lost (downstream of altered splice site)
612634ZN_FINGC2H2-type 15.might get lost (downstream of altered splice site)
642659ZN_FINGC2H2-type 16; degenerate.might get lost (downstream of altered splice site)
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 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 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 N/A
cDNA position
(for ins/del: last normal base / first normal base)		 192
gDNA position
(for ins/del: last normal base / first normal base)		 43855
chromosomal position
(for ins/del: last normal base / first normal base)		 75790880
original gDNA sequence snippet GGTATCATTACAGGAGTTGGTGTCCTTTGAGGAGGTAGCTG
altered gDNA sequence snippet GGTATCATTACAGGAGTTGGCGTCCTTTGAGGAGGTAGCTG
original cDNA sequence snippet GCCTGAAGTGCAGGAGTTGGTGTCCTTTGAGGAGGTAGCTG
altered cDNA sequence snippet GCCTGAAGTGCAGGAGTTGGCGTCCTTTGAGGAGGTAGCTG
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 N/A
speed 0.62 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