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 ENST00000431842
Genbank transcript ID NM_015224
UniProt peptide Q9UK61
alteration type single base exchange
alteration region CDS
DNA changes c.1826C>G
cDNA.2751C>G
g.49584C>G
AA changes T609R Score: 71 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 609
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 190
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      609ILKQKNVSYVSTVSTPIFSTQEKM
mutated  not conserved    609QKNVSYVSRVSTPIFSTQEK
Ptroglodytes  not conserved  ENSPTRG00000015038  985QKNVSYVSRVSTPIFSTQEK
Mmulatta  not conserved  ENSMMUG00000002820  960EKNVSYVSRVSTPIFTTQEK
Fcatus  no alignment  ENSFCAG00000002825  n/a
Mmusculus  not conserved  ENSMUSG00000040651  1029ILKEKNVSYVSAISTPI
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  not conserved  ENSDARG00000013346  906LMEAQHIIYNSQPPLPRNED
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  all identical  ENSXETG00000000923  958VLKQKDIPYVVTAAPPLLSSDDR
protein features no protein features affected
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 3702 / 3702
position (AA) of stopcodon in wt / mu AA sequence 1234 / 1234
position of stopcodon in wt / mu cDNA 4627 / 4627
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 926 / 926
chromosome 3
strand -1
last intron/exon boundary 4098
theoretical NMD boundary in CDS 3122
length of CDS 3702
coding sequence (CDS) position 1826
cDNA position
(for ins/del: last normal base / first normal base)		 2751
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 MSIDHLKQKI PPALFYKETY LGPNEVLKNG MYCSLYEVVE KTRIGSNMES LLQKLDREKL
VLVKPLGDRG YLFLLSPYQM VPPYEYQTAK SRVLHALFLF QEPRSIVTSQ KGSTNAAPQE
RHESMPDVLK IAQFLQFSLI QCRKEFKNIS AINFHSVVEK YVSEFFKRGF GSGKREFIMF
PYDSRLDDKK FLYSAPRNKS HIDTCLHAYI FRPEVYQLPI CKLKELFEEN RKLQQFSPLS
DYEGQEEEMN GTKMKFGKRN NSRGEAIISG KQRSSHSLDY DKDRVKELIN LIQCRKKSVG
GDSDTEDMRS KTVLKRKLED LPENMRKLAK TSNLSENCHL YEESPQPIGS LGHDADLRRQ
QQDTCNSGIA DIHRLFNWLS ETLANARHSD ASLTDTVNKA LGLSTDDAYE ELRQKHEYEL
NSTPDKKDYE QPTCAKVENA QFKGTQSLLL EVDATSKYSV AISTSEVGTD HKLHLKEDPN
LISVNNFEDC SLCPSVPIEH GFRRQQSKSN NVEETEIHWK LIPITGGNAR SPEDQLGKHG
EKQTPDTLKG TTEDDVLTGQ VEEQCVPAAE AEPPAVSETT ERTVLGEYNL FSRKIEEILK
QKNVSYVSTV STPIFSTQEK MKRLSEFIYS KTSKAGVQEF VDGLHEKLNT IIIKASAKGG
NLPPVSPNDS GAKIASNPLE RHVIPVSSSD FNNKHLLEPL CSDPLKDTNS DEQHSTSALT
EVEMNQPQHA TELMVTSDHI VPGDMAREPV EETTKSPSDV NISAQPALSN FISQLEPEVF
NSLVKIMKDV QKNTVKFYIH EEEESVLCKE IKEYLIKLGN TECHPEQFLE RRSKLDKLLI
IIQNEDIAGF IHKIPGLVTL KKLPCVSFAG VDSLDDVKNH TYNELFVSGG FIVSDESILN
PEVVTVENLK NFLTFLEELS TPEGKWQWKV HCKFQKKLKE LGRLNAKALS LLTLLNVYQK
KHLVEILSYH NCDSQTRNAP ELDCLIRLQA QNIQQRHIVF LTEKNIKMLS SYTDNGIVVA
TAEDFMQNFK NLVGYHNSIT EENLPQLGAN ENLESQSALL ENDEKDEEDM SLDSGDEISH
IEVCSNFHSE IWEKETKGSR GTDQKKNTQI ELQSSPDVQN SLLEDKTYLD SEERTSIDIV
CSEGENSNST EQDSYSNFQV YHSQLNMSHQ FSHFNVLTHQ TFLGTPYALS SSQSQENENY
FLSAYTESLD RDKSPPPLSW GKSDSSRPYS QEK*
mutated AA sequence MSIDHLKQKI PPALFYKETY LGPNEVLKNG MYCSLYEVVE KTRIGSNMES LLQKLDREKL
VLVKPLGDRG YLFLLSPYQM VPPYEYQTAK SRVLHALFLF QEPRSIVTSQ KGSTNAAPQE
RHESMPDVLK IAQFLQFSLI QCRKEFKNIS AINFHSVVEK YVSEFFKRGF GSGKREFIMF
PYDSRLDDKK FLYSAPRNKS HIDTCLHAYI FRPEVYQLPI CKLKELFEEN RKLQQFSPLS
DYEGQEEEMN GTKMKFGKRN NSRGEAIISG KQRSSHSLDY DKDRVKELIN LIQCRKKSVG
GDSDTEDMRS KTVLKRKLED LPENMRKLAK TSNLSENCHL YEESPQPIGS LGHDADLRRQ
QQDTCNSGIA DIHRLFNWLS ETLANARHSD ASLTDTVNKA LGLSTDDAYE ELRQKHEYEL
NSTPDKKDYE QPTCAKVENA QFKGTQSLLL EVDATSKYSV AISTSEVGTD HKLHLKEDPN
LISVNNFEDC SLCPSVPIEH GFRRQQSKSN NVEETEIHWK LIPITGGNAR SPEDQLGKHG
EKQTPDTLKG TTEDDVLTGQ VEEQCVPAAE AEPPAVSETT ERTVLGEYNL FSRKIEEILK
QKNVSYVSRV STPIFSTQEK MKRLSEFIYS KTSKAGVQEF VDGLHEKLNT IIIKASAKGG
NLPPVSPNDS GAKIASNPLE RHVIPVSSSD FNNKHLLEPL CSDPLKDTNS DEQHSTSALT
EVEMNQPQHA TELMVTSDHI VPGDMAREPV EETTKSPSDV NISAQPALSN FISQLEPEVF
NSLVKIMKDV QKNTVKFYIH EEEESVLCKE IKEYLIKLGN TECHPEQFLE RRSKLDKLLI
IIQNEDIAGF IHKIPGLVTL KKLPCVSFAG VDSLDDVKNH TYNELFVSGG FIVSDESILN
PEVVTVENLK NFLTFLEELS TPEGKWQWKV HCKFQKKLKE LGRLNAKALS LLTLLNVYQK
KHLVEILSYH NCDSQTRNAP ELDCLIRLQA QNIQQRHIVF LTEKNIKMLS SYTDNGIVVA
TAEDFMQNFK NLVGYHNSIT EENLPQLGAN ENLESQSALL ENDEKDEEDM SLDSGDEISH
IEVCSNFHSE IWEKETKGSR GTDQKKNTQI ELQSSPDVQN SLLEDKTYLD SEERTSIDIV
CSEGENSNST EQDSYSNFQV YHSQLNMSHQ FSHFNVLTHQ TFLGTPYALS SSQSQENENY
FLSAYTESLD RDKSPPPLSW GKSDSSRPYS QEK*
speed 1.01 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