Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.99999999999978 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
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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 ENST00000422325
Genbank transcript ID NM_001128223
UniProt peptide Q9BY31
alteration type single base exchange
alteration region CDS
DNA changes c.2026G>A
cDNA.2349G>A
g.47987G>A
AA changes D676N Score: 23 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 676
frameshift no
known variant Reference ID: rs112332186
databasehomozygous (T/T)heterozygousallele carriers
1000G---
ExAC155156667217
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)-0.6550.004
-2.2990
(flanking)-0.9320
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased47989wt: 0.9754 / mu: 0.9927 (marginal change - not scored)wt: ATGGATGTAATGAAT
mu: ATGAATGTAATGAAT		 GGAT|gtaa
Donor marginally increased47984wt: 0.8314 / mu: 0.8515 (marginal change - not scored)wt: ACCGTATGGATGTAA
mu: ACCGTATGAATGTAA		 CGTA|tgga
distance from splice site 720
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      676HQRTHTGKNRMDVMNVEKLFVRNH
mutated  all conserved    676HQRTHTGKNRMNVMNVEKLFVRN
Ptroglodytes  no homologue    
Mmulatta  no alignment  ENSMMUG00000018453  n/a
Fcatus  no homologue    
Mmusculus  all conserved  ENSMUSG00000037001  550HQKTHTGEKPYECNVCGKTFHRQ
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features no protein features affected
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2745 / 2745
position (AA) of stopcodon in wt / mu AA sequence 915 / 915
position of stopcodon in wt / mu cDNA 3068 / 3068
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 324 / 324
chromosome 3
strand -1
last intron/exon boundary 601
theoretical NMD boundary in CDS 227
length of CDS 2745
coding sequence (CDS) position 2026
cDNA position
(for ins/del: last normal base / first normal base)		 2349
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 MFPVFSGCFQ ELQEKNKSLE LVSFEEVAVH FTWEEWQDLD DAQRTLYRDV 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 MFPVFSGCFQ ELQEKNKSLE LVSFEEVAVH FTWEEWQDLD DAQRTLYRDV 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 1.17 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