Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.949111396485705 (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) chr15:59323048C>GN/A show variant in all transcripts   IGV
HGNC symbol RNF111
Ensembl transcript ID ENST00000434298
Genbank transcript ID N/A
UniProt peptide Q6ZNA4
alteration type single base exchange
alteration region CDS
DNA changes c.27C>G
cDNA.449C>G
g.165675C>G
AA changes N9K Score: 94 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 9
frameshift no
known variant Reference ID: rs2899642
databasehomozygous (G/G)heterozygousallele carriers
1000G204752956
ExAC88381509123929
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K9me1, Histone, Histone 3 Lysine 9 mono-methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)1.0671
0.5690.997
(flanking)0.2270.996
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc marginally increased165668wt: 0.3531 / mu: 0.4127 (marginal change - not scored)wt: CATGTCTCAATGGACTCCTGAATATAACGAGCTCTACACCT
mu: CATGTCTCAATGGACTCCTGAATATAAGGAGCTCTACACCT		 ctga|ATAT
Donor gained1656690.98mu: CCTGAATATAAGGAG TGAA|tata
distance from splice site 46
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      9 MSQWTPEYNELYTLKVDMKSE
mutated  not conserved    9 MSQWTPEYKELYTLKVDMKSEI
Ptroglodytes  all identical  ENSPTRG00000007122  9 MSQWTPEYNELYTLKVDMKSEI
Mmulatta  all identical  ENSMMUG00000013089  9 MSQWTPEYNELYTLKVDMKSEI
Fcatus  all identical  ENSFCAG00000009412  9 MSQWTPEYNKLYTLKVDMKSEI
Mmusculus  all identical  ENSMUSG00000032217  9 MSQWTPEFNELYTLKVAMKSGT
Ggallus  no alignment  ENSGALG00000004171  n/a
Trubripes  no alignment  ENSTRUG00000017751  n/a
Drerio  no alignment  ENSDARG00000078802  n/a
Dmelanogaster  no alignment  FBgn0037944  n/a
Celegans  no alignment  W02A11.3  n/a
Xtropicalis  not conserved  ENSXETG00000010842  9 LKKWSTGLVFNHSEKADMKSEV
protein features
start (aa)end (aa)featuredetails 
241404REGIONInteraction with AXIN1.might get lost (downstream of altered splice site)
252464COMPBIASSer-rich.might get lost (downstream of altered splice site)
473473CONFLICTA -> E (in Ref. 2; CAD98031).might get lost (downstream of altered splice site)
494523COMPBIASHis-rich.might get lost (downstream of altered splice site)
562562CONFLICTMissing (in Ref. 3; AAH60862/AAH20984).might get lost (downstream of altered splice site)
629781COMPBIASPro-rich.might get lost (downstream of altered splice site)
809809CONFLICTE -> G (in Ref. 2; CAD98031).might get lost (downstream of altered splice site)
931931CONFLICTE -> G (in Ref. 2; CAD98031).might get lost (downstream of altered splice site)
942983ZN_FINGRING-type; atypical.might get lost (downstream of altered splice site)
943946TURNmight get lost (downstream of altered splice site)
951953STRANDmight get lost (downstream of altered splice site)
955957STRANDmight get lost (downstream of altered splice site)
963965STRANDmight get lost (downstream of altered splice site)
966975HELIXmight get lost (downstream of altered splice site)
974974CONFLICTI -> V (in Ref. 1; BAD18471).might get lost (downstream of altered splice site)
980982TURNmight get lost (downstream of altered splice site)
984986STRANDmight get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 3012 / 3012
position (AA) of stopcodon in wt / mu AA sequence 1004 / 1004
position of stopcodon in wt / mu cDNA 3434 / 3434
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 423 / 423
chromosome 15
strand 1
last intron/exon boundary 3317
theoretical NMD boundary in CDS 2844
length of CDS 3012
coding sequence (CDS) position 27
cDNA position
(for ins/del: last normal base / first normal base)		 449
gDNA position
(for ins/del: last normal base / first normal base)		 165675
chromosomal position
(for ins/del: last normal base / first normal base)		 59323048
original gDNA sequence snippet CAATGGACTCCTGAATATAACGAGCTCTACACCTTAAAAGT
altered gDNA sequence snippet CAATGGACTCCTGAATATAAGGAGCTCTACACCTTAAAAGT
original cDNA sequence snippet CAATGGACTCCTGAATATAACGAGCTCTACACCTTAAAAGT
altered cDNA sequence snippet CAATGGACTCCTGAATATAAGGAGCTCTACACCTTAAAAGT
wildtype AA sequence MSQWTPEYNE LYTLKVDMKS EIPSDAPKTQ ESLKGILLHP EPIGAAKSFP AGVEMINSKV
GNEFSHLCDD SQKQEKEMNG NQQEQEKSLV VRKKRKSQQA GPSYVQNCVK ENQGILGLRQ
HLGTPSDEDN DSSFSDCLSS PSSSLHFGDS DTVTSDEDKE VSVRHSQTIL NAKSRSHSAR
SHKWPRTETE SVSGLLMKRP CLHGSSLRRL PCRKRFVKNN SSQRTQKQKE RILMQRKKRE
VLARRKYALL PSSSSSSEND LSSESSSSSS TEGEEDLFVS ASENHQNNPA VPSGSIDEDV
VVIEASSTPQ VTANEEINVT STDSEVEIVT VGESYRSRST LGHSRSHWSQ GSSSHASRPQ
EPRNRSRIST VIQPLRQNAA EVVDLTVDED EPTVVPTTSA RMESQATSAS INNSNPSTSE
QASDTASAVT SSQPSTVSET SATLTSNSTT GTSIGDDSRR TTSSAVTETG PPAMPRLPSC
CPQHSPCGGS SQNHHALGHP HTSCFQQHGH HFQHHHHHHH TPHPAVPVSP SFSDPACPVE
RPPQVQAPCG ANSSSGTSYH EQQALPVDLS NSGIRSHGSG SFHGASAFDP CCPVSSSRAA
IFGHQAAAAA PSQPLSSIDG YGSSMVAQPQ PQPPPQPSLS SCRHYMPPPY ASLTRPLHHQ
ASACPHSHGN PPPQTQPPPQ VDYVIPHPVH AFHSQISSHA TSHPVAPPPP THLASTAAPI
PQHLPPTHQP ISHHIPATAP PAQRLHPHEV MQRMEVQRRR MMQHPTGLFV FCVSRRAHER
PPPHPHRMHP NYGHGHHIHV PQTMSSHPRQ APERSAWELG IEAGVTAATY TPGALHPHLA
HYHAPPRLHH LQLGALPLMV PDMAGYPHIR YISSGLDGTS FRGPFRGNFE ELIHLEERLG
NVNRGASQGT IERCTYPHKY KKVTTDWFSQ RKLHCKQDGE EGTEEDTEEK CTICLSILEE
GEDVRRLPCM HLFHQVCVDQ WLITNKKCPI CRVDIEAQLP SES*
mutated AA sequence MSQWTPEYKE LYTLKVDMKS EIPSDAPKTQ ESLKGILLHP EPIGAAKSFP AGVEMINSKV
GNEFSHLCDD SQKQEKEMNG NQQEQEKSLV VRKKRKSQQA GPSYVQNCVK ENQGILGLRQ
HLGTPSDEDN DSSFSDCLSS PSSSLHFGDS DTVTSDEDKE VSVRHSQTIL NAKSRSHSAR
SHKWPRTETE SVSGLLMKRP CLHGSSLRRL PCRKRFVKNN SSQRTQKQKE RILMQRKKRE
VLARRKYALL PSSSSSSEND LSSESSSSSS TEGEEDLFVS ASENHQNNPA VPSGSIDEDV
VVIEASSTPQ VTANEEINVT STDSEVEIVT VGESYRSRST LGHSRSHWSQ GSSSHASRPQ
EPRNRSRIST VIQPLRQNAA EVVDLTVDED EPTVVPTTSA RMESQATSAS INNSNPSTSE
QASDTASAVT SSQPSTVSET SATLTSNSTT GTSIGDDSRR TTSSAVTETG PPAMPRLPSC
CPQHSPCGGS SQNHHALGHP HTSCFQQHGH HFQHHHHHHH TPHPAVPVSP SFSDPACPVE
RPPQVQAPCG ANSSSGTSYH EQQALPVDLS NSGIRSHGSG SFHGASAFDP CCPVSSSRAA
IFGHQAAAAA PSQPLSSIDG YGSSMVAQPQ PQPPPQPSLS SCRHYMPPPY ASLTRPLHHQ
ASACPHSHGN PPPQTQPPPQ VDYVIPHPVH AFHSQISSHA TSHPVAPPPP THLASTAAPI
PQHLPPTHQP ISHHIPATAP PAQRLHPHEV MQRMEVQRRR MMQHPTGLFV FCVSRRAHER
PPPHPHRMHP NYGHGHHIHV PQTMSSHPRQ APERSAWELG IEAGVTAATY TPGALHPHLA
HYHAPPRLHH LQLGALPLMV PDMAGYPHIR YISSGLDGTS FRGPFRGNFE ELIHLEERLG
NVNRGASQGT IERCTYPHKY KKVTTDWFSQ RKLHCKQDGE EGTEEDTEEK CTICLSILEE
GEDVRRLPCM HLFHQVCVDQ WLITNKKCPI CRVDIEAQLP SES*
speed 0.42 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