Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999970542642947 (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 ENST00000429541
Genbank transcript ID N/A
UniProt peptide O14628
alteration type single base exchange
alteration region CDS
DNA changes c.665C>G
cDNA.1195C>G
g.19080C>G
AA changes P222R Score: 103 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 222
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      222KTFIQCSHFTEPENIDTGEKPYKC
mutated  not conserved    222KTFIQCSHFTERENIDTGEKPYK
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 
76243REGIONSpacer.lost
244266ZN_FINGC2H2-type 1.might get lost (downstream of altered splice site)
272294ZN_FINGC2H2-type 2; degenerate.might get lost (downstream of altered splice site)
290290CONFLICTP -> R (in Ref. 2; BAG53114).might get lost (downstream of altered splice site)
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 1686 / 1686
position (AA) of stopcodon in wt / mu AA sequence 562 / 562
position of stopcodon in wt / mu cDNA 2216 / 2216
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 531 / 531
chromosome 11
strand -1
last intron/exon boundary 769
theoretical NMD boundary in CDS 188
length of CDS 1686
coding sequence (CDS) position 665
cDNA position
(for ins/del: last normal base / first normal base)		 1195
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 MAGAQTLLTF RDVAIEFSLE EWKCLDLAQQ NLYRDVMLEN YRNLFSVGLT VCKPGLITCL
EQRKEPWNVK RQEAADGHPA MSSHFTQDLL PEQGIQDAFP KRILRGYGNC GLDNLYLRKD
WESLDECKLQ KDYNGLNQCS STTHSKIFQY NKYVKIFDNF SNLHRRNISN TGEKPFKCQE
CGKSFQMLSF LTEHQKIHTG KKFQKCGECG KTFIQCSHFT EPENIDTGEK PYKCQECNNV
IKTCSVLTKN RIYAGGEHYR CEEFGKVFNQ CSHLTEHEHG TEEKPCKYEE CSSVFISCSS
LSNQQMILAG EKLSKCETWY KGFNHSPNPS KHQRNEIGGK PFKCEECDSI FKWFSDLTKH
KRIHTGEKPY KCDECGKAYT QSSHLSEHRR IHTGEKPYQC EECGKVFRTC SSLSNHKRTH
SEEKPYTCEE CGNIFKQLSD LTKHKKTHTG EKPYKCDECG KNFTQSSNLI VHKRIHTGEK
PYKCEECGRV FMWFSDITKH KKTHTGEKPY KCDECGKNFT QSSNLIVHKR IHTGEKPYKC
EKCGKAFTQF SHLTVHESIH T*
mutated AA sequence MAGAQTLLTF RDVAIEFSLE EWKCLDLAQQ NLYRDVMLEN YRNLFSVGLT VCKPGLITCL
EQRKEPWNVK RQEAADGHPA MSSHFTQDLL PEQGIQDAFP KRILRGYGNC GLDNLYLRKD
WESLDECKLQ KDYNGLNQCS STTHSKIFQY NKYVKIFDNF SNLHRRNISN TGEKPFKCQE
CGKSFQMLSF LTEHQKIHTG KKFQKCGECG KTFIQCSHFT ERENIDTGEK PYKCQECNNV
IKTCSVLTKN RIYAGGEHYR CEEFGKVFNQ CSHLTEHEHG TEEKPCKYEE CSSVFISCSS
LSNQQMILAG EKLSKCETWY KGFNHSPNPS KHQRNEIGGK PFKCEECDSI FKWFSDLTKH
KRIHTGEKPY KCDECGKAYT QSSHLSEHRR IHTGEKPYQC EECGKVFRTC SSLSNHKRTH
SEEKPYTCEE CGNIFKQLSD LTKHKKTHTG EKPYKCDECG KNFTQSSNLI VHKRIHTGEK
PYKCEECGRV FMWFSDITKH KKTHTGEKPY KCDECGKNFT QSSNLIVHKR IHTGEKPYKC
EKCGKAFTQF SHLTVHESIH T*
speed 0.13 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