Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999999658 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
 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 ENST00000400845
Genbank transcript ID N/A
UniProt peptide Q9BY31
alteration type single base exchange
alteration region CDS
DNA changes c.2005G>A
cDNA.2293G>A
g.47987G>A
AA changes D669N Score: 23 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 669
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      669HQRTHTGKNRMDVMNVEKLFVRNH
mutated  all conserved    669THTGKNRMNVMNVEKLFVRN
Ptroglodytes  no homologue    
Mmulatta  no alignment  ENSMMUG00000018453  n/a
Fcatus  no homologue    
Mmusculus  no alignment  ENSMUSG00000037001  n/a
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 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 3
strand -1
last intron/exon boundary 545
theoretical NMD boundary in CDS 206
length of CDS 2724
coding sequence (CDS) position 2005
cDNA position
(for ins/del: last normal base / first normal base)		 2293
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 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 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
THTGKNRMNV 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 1.26 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