Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999987732740817 (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) chr11:3381369G>CN/A show variant in all transcripts   IGV
HGNC symbol ZNF195
Ensembl transcript ID ENST00000399602
Genbank transcript ID NM_001130520
UniProt peptide O14628
alteration type single base exchange
alteration region CDS
DNA changes c.869C>G
cDNA.996C>G
g.19080C>G
AA changes P290R Score: 103 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 290
frameshift no
known variant Reference ID: rs62619253
databasehomozygous (C/C)heterozygousallele carriers
1000G173775948
ExAC22421570617948
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K9me3, Histone, Histone 3 Lysine 9 Tri-Methylation
H4K20me3, Histone, Histone 4 Lysine 20 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.470.871
1.3420.881
(flanking)3.2220.871
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased19076wt: 0.44 / mu: 0.55wt: TCCAGTGCTCACACTTTACTGAACCTGAGAACATTGACACT
mu: TCCAGTGCTCACACTTTACTGAACGTGAGAACATTGACACT		 actg|AACC
Acc increased19072wt: 0.31 / mu: 0.45wt: TTTATCCAGTGCTCACACTTTACTGAACCTGAGAACATTGA
mu: TTTATCCAGTGCTCACACTTTACTGAACGTGAGAACATTGA		 cttt|ACTG
Donor marginally increased19073wt: 0.3487 / mu: 0.3519 (marginal change - not scored)wt: ACTTTACTGAACCTG
mu: ACTTTACTGAACGTG		 TTTA|ctga
Donor gained190740.87mu: CTTTACTGAACGTGA TTAC|tgaa
distance from splice site 427
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      290KTFIQCSHFTEPENIDTGEKPYKC
mutated  not conserved    290KTFIQCSHFTERENIDTGEKPY
Ptroglodytes  not conserved  ENSPTRG00000003194  166KTFIQCSHFTEHENIDTGEKPYK
Mmulatta  not conserved  ENSMMUG00000018698  289KTFIQCSHFTEHENIDTGEKPYR
Fcatus  no homologue    
Mmusculus  no homologue    
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no alignment  FBgn0040305  n/a
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
272294ZN_FINGC2H2-type 2; degenerate.lost
290290CONFLICTP -> R (in Ref. 2; BAG53114).lost
352407CONFLICTMissing (in Ref. 2; BAD18466).might get lost (downstream of altered splice site)
408408MOD_RESN6-acetyllysine.might get lost (downstream of altered splice site)
410432ZN_FINGC2H2-type 3.might get lost (downstream of altered splice site)
438460ZN_FINGC2H2-type 4.might get lost (downstream of altered splice site)
466488ZN_FINGC2H2-type 5.might get lost (downstream of altered splice site)
494516ZN_FINGC2H2-type 6.might get lost (downstream of altered splice site)
522544ZN_FINGC2H2-type 7.might get lost (downstream of altered splice site)
550572ZN_FINGC2H2-type 8.might get lost (downstream of altered splice site)
558558CONFLICTV -> A (in Ref. 1; AAB86596).might get lost (downstream of altered splice site)
570570CONFLICTK -> Q (in Ref. 1; AAB86596).might get lost (downstream of altered splice site)
578600ZN_FINGC2H2-type 9.might get lost (downstream of altered splice site)
606628ZN_FINGC2H2-type 10.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1890 / 1890
position (AA) of stopcodon in wt / mu AA sequence 630 / 630
position of stopcodon in wt / mu cDNA 2017 / 2017
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 128 / 128
chromosome 11
strand -1
last intron/exon boundary 570
theoretical NMD boundary in CDS 392
length of CDS 1890
coding sequence (CDS) position 869
cDNA position
(for ins/del: last normal base / first normal base)		 996
gDNA position
(for ins/del: last normal base / first normal base)		 19080
chromosomal position
(for ins/del: last normal base / first normal base)		 3381369
original gDNA sequence snippet GTGCTCACACTTTACTGAACCTGAGAACATTGACACTGGAG
altered gDNA sequence snippet GTGCTCACACTTTACTGAACGTGAGAACATTGACACTGGAG
original cDNA sequence snippet GTGCTCACACTTTACTGAACCTGAGAACATTGACACTGGAG
altered cDNA sequence snippet GTGCTCACACTTTACTGAACGTGAGAACATTGACACTGGAG
wildtype AA sequence MTLLTFRDVA IEFSLEEWKC LDLAQQNLYR DVMLENYRNL FSVGLTVCKP GLITCLEQRK
EPWNVKRQEA ADGHPEMGFH HATQACLELL GSSDLPASAS QSAGITGVNH RAQPGLNVSV
DKFTALCSPG VLQTVKWFLE FRCIFSLAMS SHFTQDLLPE QGIQDAFPKR ILRGYGNCGL
DNLYLRKDWE SLDECKLQKD YNGLNQCSST THSKIFQYNK YVKIFDNFSN LHRRNISNTG
EKPFKCQECG KSFQMLSFLT EHQKIHTGKK FQKCGECGKT FIQCSHFTEP ENIDTGEKPY
KCQECNNVIK TCSVLTKNRI YAGGEHYRCE EFGKVFNQCS HLTEHEHGTE EKPCKYEECS
SVFISCSSLS NQQMILAGEK LSKCETWYKG FNHSPNPSKH QRNEIGGKPF KCEECDSIFK
WFSDLTKHKR IHTGEKPYKC DECGKAYTQS SHLSEHRRIH TGEKPYQCEE CGKVFRTCSS
LSNHKRTHSE EKPYTCEECG NIFKQLSDLT KHKKTHTGEK PYKCDECGKN FTQSSNLIVH
KRIHTGEKPY KCEECGRVFM WFSDITKHKK THTGEKPYKC DECGKNFTQS SNLIVHKRIH
TGEKPYKCEK CGKAFTQFSH LTVHESIHT*
mutated AA sequence MTLLTFRDVA IEFSLEEWKC LDLAQQNLYR DVMLENYRNL FSVGLTVCKP GLITCLEQRK
EPWNVKRQEA ADGHPEMGFH HATQACLELL GSSDLPASAS QSAGITGVNH RAQPGLNVSV
DKFTALCSPG VLQTVKWFLE FRCIFSLAMS SHFTQDLLPE QGIQDAFPKR ILRGYGNCGL
DNLYLRKDWE SLDECKLQKD YNGLNQCSST THSKIFQYNK YVKIFDNFSN LHRRNISNTG
EKPFKCQECG KSFQMLSFLT EHQKIHTGKK FQKCGECGKT FIQCSHFTER ENIDTGEKPY
KCQECNNVIK TCSVLTKNRI YAGGEHYRCE EFGKVFNQCS HLTEHEHGTE EKPCKYEECS
SVFISCSSLS NQQMILAGEK LSKCETWYKG FNHSPNPSKH QRNEIGGKPF KCEECDSIFK
WFSDLTKHKR IHTGEKPYKC DECGKAYTQS SHLSEHRRIH TGEKPYQCEE CGKVFRTCSS
LSNHKRTHSE EKPYTCEECG NIFKQLSDLT KHKKTHTGEK PYKCDECGKN FTQSSNLIVH
KRIHTGEKPY KCEECGRVFM WFSDITKHKK THTGEKPYKC DECGKNFTQS SNLIVHKRIH
TGEKPYKCEK CGKAFTQFSH LTVHESIHT*
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