Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.99999999999999      (explain)
Summary
  • amino acid sequence changed
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr3:75787372A>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.1381T>A
cDNA.1669T>A
g.47363T>A
AA changes L461I Score: 5 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 461
frameshift no
known variant Reference ID: rs62250108
Allele 'T' was neither found in ExAC nor 1000G.
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)-1.6890
-2.6910
(flanking)-2.4840
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased47360wt: 0.34 / mu: 0.39wt: ACCTCAGGTTACATC
mu: ACCTCAGGATACATC		 CTCA|ggtt
Donor increased47367wt: 0.75 / mu: 0.86wt: GTTACATCAGAGAAC
mu: GATACATCAGAGAAC		 TACA|tcag
distance from splice site 1125
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      461GKPFINKSNLRLHQRTHTGEKPYE
mutated  all conserved    461GKPFINKSNLRIHQRTHTGEKPY
Ptroglodytes  no homologue    
Mmulatta  no alignment  ENSMMUG00000018453  n/a
Fcatus  no homologue    
Mmusculus  all conserved  ENSMUSG00000037001  510RKTFYSKSHLVIHQKVHTGDKPY
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 
444466ZN_FINGC2H2-type 9.lost
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 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 1381
cDNA position
(for ins/del: last normal base / first normal base)		 1669
gDNA position
(for ins/del: last normal base / first normal base)		 47363
chromosomal position
(for ins/del: last normal base / first normal base)		 75787372
original gDNA sequence snippet TCAATAAGTCAAACCTCAGGTTACATCAGAGAACTCACACA
altered gDNA sequence snippet TCAATAAGTCAAACCTCAGGATACATCAGAGAACTCACACA
original cDNA sequence snippet TCAATAAGTCAAACCTCAGGTTACATCAGAGAACTCACACA
altered cDNA sequence snippet TCAATAAGTCAAACCTCAGGATACATCAGAGAACTCACACA
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 IHQRTHTGEK 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*
speed 0.95 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