Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999995655 (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) chr3:56667682G>CN/A show variant in all transcripts   IGV
HGNC symbol TASOR
Ensembl transcript ID ENST00000493960
Genbank transcript ID NM_001112736
UniProt peptide Q9UK61
alteration type single base exchange
alteration region CDS
DNA changes c.3137C>G
cDNA.3148C>G
g.49584C>G
AA changes T1046R Score: 71 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 1046
frameshift no
known variant Reference ID: rs9835332
databasehomozygous (C/C)heterozygousallele carriers
1000G16296702299
ExAC24225-156838542
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.5080.026
-0.1270.024
(flanking)0.4670.125
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 increased49580wt: 0.9785 / mu: 0.9952 (marginal change - not scored)wt: ATGTCAGTACAGTTT
mu: ATGTCAGTAGAGTTT		 GTCA|gtac
distance from splice site 313
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      1046ILKQKNVSYVSTVSTPIFSTQEKM
mutated  not conserved    1046ILKQKNVSYVSRVSTPIFSTQEK
Ptroglodytes  not conserved  ENSPTRG00000015038  985ILKQKNVSYVSRVSTPIFSTQEK
Mmulatta  not conserved  ENSMMUG00000002820  960RVSTPIFTTQEK
Fcatus  no alignment  ENSFCAG00000002825  n/a
Mmusculus  not conserved  ENSMUSG00000040651  1031ILKEKNVSYVSAISTPIFSAQEK
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  not conserved  ENSDARG00000013346  906LMEAQHIIYNSQPPLPRNED
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  all identical  ENSXETG00000000923  963DIPYVVTAAPPLLSSDDR
protein features no protein features affected
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 4539 / 4539
position (AA) of stopcodon in wt / mu AA sequence 1513 / 1513
position of stopcodon in wt / mu cDNA 4550 / 4550
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 12 / 12
chromosome 3
strand -1
last intron/exon boundary 4495
theoretical NMD boundary in CDS 4433
length of CDS 4539
coding sequence (CDS) position 3137
cDNA position
(for ins/del: last normal base / first normal base)		 3148
gDNA position
(for ins/del: last normal base / first normal base)		 49584
chromosomal position
(for ins/del: last normal base / first normal base)		 56667682
original gDNA sequence snippet GAATGTTTCATATGTCAGTACAGTTTCCACACCTATCTTTT
altered gDNA sequence snippet GAATGTTTCATATGTCAGTAGAGTTTCCACACCTATCTTTT
original cDNA sequence snippet GAATGTTTCATATGTCAGTACAGTTTCCACACCTATCTTTT
altered cDNA sequence snippet GAATGTTTCATATGTCAGTAGAGTTTCCACACCTATCTTTT
wildtype AA sequence MATAVETEAC QPTDASWESG GGGDDEMKQA LPELESSQQN GGGGGLNIAE PSGGAGREEN
AGAEAAQSLS HEQPQDSSEA GAAALPRGPE EPERPVRRSF QIPRKSREKK ALFQPLTPGS
REFEDVVNIL HSSYLEPTSV TNFNYRRACL VHNELLEKEF TEKRRELKFD GRLDKELSES
YAFLMVDRYQ VQTICEKGLH VGQSKITILG SPSMGVYLSR YADLLQANPL DTGAMGDVVI
FKIMKGKIKS IYDPMGVKSL ESMLNKSALD PTPKHECHVS KNANRITSLL AYRAYELTQY
YFYEYGFDEL RRRPRHVCPY AVVSFTYKDD IQTPKFVPSS RSNSFNTDRN IDKYNYTLWK
GQLLNKGKLL CYISLRSATR AFLPIKLPEK LDVETVMSID HLKQKIPPAL FYKETYLGPN
EVLKNGMYCS LYEVVEKTRI GSNMESLLQK LDREKLVLVK PLGDRGYLFL LSPYQMVPPY
EYQTAKSRVL HALFLFQEPR SIVTSQKGST NAAPQERHES MPDVLKIAQF LQFSLIQCRK
EFKNISAINF HSVVEKYVSE FFKRGFGSGK REFIMFPYDS RLDDKKFLYS APRNKSHIDT
CLHAYIFRPE VYQLPICKLK ELFEENRKLQ QFSPLSDYEG QEEEMNGTKM KFGKRNNSRG
EAIISGKQRS SHSLDYDKDR VKELINLIQC RKKSVGGDSD TEDMRSKTVL KRKLEDLPEN
MRKLAKTSNL SENCHLYEES PQPIGSLGHD ADLRRQQQDT CNSGIADIHR LFNWLSETLA
NARHSDASLT DTVNKALGLS TDDAYEELRQ KHEYELNSTP DKKDYEQPTC AKVENAQFKG
TQSLLLEVDA TSKYSVAIST SEVGTDHKLH LKEDPNLISV NNFEDCSLCP SVPIEHGFRR
QQSKSNNVEE TEIHWKLIPI TGGNARSPED QLGKHGEKQT PGMKSPEEQL VCVPPQEAFP
NDPRVINRQR SSDYQFPSSP FTDTLKGTTE DDVLTGQVEE QCVPAAEAEP PAVSETTERT
VLGEYNLFSR KIEEILKQKN VSYVSTVSTP IFSTQEKMKR LSEFIYSKTS KAGVQEFVDG
LHEKLNTIII KASAKGGNLP PVSPNDSGAK IASNPLERHV IPVSSSDFNN KHLLEPLCSD
PLKDTNSDEQ HSTSALTEVE MNQPQHATEL MVTSDHIVPG DMAREPVEET TKSPSDVNIS
AQPALSNFIS QLEPEVFNSL VKIMKDVQKN TVKFYIHEEE ESVLCKEIKE YLIKLGNTEC
HPEQFLERRS KLDKLLIIIQ NEDIAGFIHK IPGLVTLKKL PCVSFAGVDS LDDVKNHTYN
ELFVSGGFIV SDESILNPEV VTVENLKNFL TFLEELSTPE GKWQWKVHCK FQKKLKELGR
LNAKALSLLT LLNVYQKKHL VEILSYHNCD SQTRNAPELD CLIRLQAQNI QQRHIVFLTE
KNIKMLSSYT DNGIVVATAE DFMQNFKNLV GYHNSITEEN LPQLGANENL ESQSDAVLTL
TPLELGVGIS QH*
mutated AA sequence MATAVETEAC QPTDASWESG GGGDDEMKQA LPELESSQQN GGGGGLNIAE PSGGAGREEN
AGAEAAQSLS HEQPQDSSEA GAAALPRGPE EPERPVRRSF QIPRKSREKK ALFQPLTPGS
REFEDVVNIL HSSYLEPTSV TNFNYRRACL VHNELLEKEF TEKRRELKFD GRLDKELSES
YAFLMVDRYQ VQTICEKGLH VGQSKITILG SPSMGVYLSR YADLLQANPL DTGAMGDVVI
FKIMKGKIKS IYDPMGVKSL ESMLNKSALD PTPKHECHVS KNANRITSLL AYRAYELTQY
YFYEYGFDEL RRRPRHVCPY AVVSFTYKDD IQTPKFVPSS RSNSFNTDRN IDKYNYTLWK
GQLLNKGKLL CYISLRSATR AFLPIKLPEK LDVETVMSID HLKQKIPPAL FYKETYLGPN
EVLKNGMYCS LYEVVEKTRI GSNMESLLQK LDREKLVLVK PLGDRGYLFL LSPYQMVPPY
EYQTAKSRVL HALFLFQEPR SIVTSQKGST NAAPQERHES MPDVLKIAQF LQFSLIQCRK
EFKNISAINF HSVVEKYVSE FFKRGFGSGK REFIMFPYDS RLDDKKFLYS APRNKSHIDT
CLHAYIFRPE VYQLPICKLK ELFEENRKLQ QFSPLSDYEG QEEEMNGTKM KFGKRNNSRG
EAIISGKQRS SHSLDYDKDR VKELINLIQC RKKSVGGDSD TEDMRSKTVL KRKLEDLPEN
MRKLAKTSNL SENCHLYEES PQPIGSLGHD ADLRRQQQDT CNSGIADIHR LFNWLSETLA
NARHSDASLT DTVNKALGLS TDDAYEELRQ KHEYELNSTP DKKDYEQPTC AKVENAQFKG
TQSLLLEVDA TSKYSVAIST SEVGTDHKLH LKEDPNLISV NNFEDCSLCP SVPIEHGFRR
QQSKSNNVEE TEIHWKLIPI TGGNARSPED QLGKHGEKQT PGMKSPEEQL VCVPPQEAFP
NDPRVINRQR SSDYQFPSSP FTDTLKGTTE DDVLTGQVEE QCVPAAEAEP PAVSETTERT
VLGEYNLFSR KIEEILKQKN VSYVSRVSTP IFSTQEKMKR LSEFIYSKTS KAGVQEFVDG
LHEKLNTIII KASAKGGNLP PVSPNDSGAK IASNPLERHV IPVSSSDFNN KHLLEPLCSD
PLKDTNSDEQ HSTSALTEVE MNQPQHATEL MVTSDHIVPG DMAREPVEET TKSPSDVNIS
AQPALSNFIS QLEPEVFNSL VKIMKDVQKN TVKFYIHEEE ESVLCKEIKE YLIKLGNTEC
HPEQFLERRS KLDKLLIIIQ NEDIAGFIHK IPGLVTLKKL PCVSFAGVDS LDDVKNHTYN
ELFVSGGFIV SDESILNPEV VTVENLKNFL TFLEELSTPE GKWQWKVHCK FQKKLKELGR
LNAKALSLLT LLNVYQKKHL VEILSYHNCD SQTRNAPELD CLIRLQAQNI QQRHIVFLTE
KNIKMLSSYT DNGIVVATAE DFMQNFKNLV GYHNSITEEN LPQLGANENL ESQSDAVLTL
TPLELGVGIS QH*
speed 1.08 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