Cosmic » Mutation » Overview » CIR1 »p.S155L / c.464C>T

This tab shows an overview of the mutation data [more details]
Gene Name:
CIR1
Mutation Id:
COSM208189
AA Mutation:
p.S155L ( Substitution - Missense )
CDS Mutation:
c.464C>T ( Substitution )
GRCh37:
Ensembl Contig View 2:175243666..175243676
Cancer Genome Browser:
COSMIC GBrowse 2:175243666..175243676
CDD:
NP_004873.3
Homologene:
3589, click hereto look at the multiple sequence alignment.
Ever confirmed somatic:
Yes
This tab displays the distribution of mutated samples and tissue types. [more details]
This tab displays a table of muated samples, with tissue, histology and zygosity information. Publication information is also included, where available, with links to PUBMED. [more details]
Sample name Gene name Transcript Primary Tissue Histology Pubmed ID Zygosity Somatic Status
This tab displays a table of protein features [more details]
View Identifier Source Feature Start End Status Score
PB016354 Pfam Pfam-B_16354:52-448 52 448 Overlap 100.00
CIR1 MGKSFANFMCKKDFHPASKSNIKKVWMAEQKISYDKKKQEELMQQYLKEQESYDNRLLMG 60 Q86X95 MGKSFANFMCKKDFHPASKSNIKKVWMAEQKISYDKKKQEELMQQYLKEQESYDNRLLMG 60 CIR1 DERVKNGLNFMYEAPPGAKKENKEKEETEGETEYKFEWQKGAPREKYAKDDMNIRDQPFG 120 Q86X95 DERVKNGLNFMYEAPPGAKKENKEKEETEGETEYKFEWQKGAPREKYAKDDMNIRDQPFG 120 CIR1 IQVRNVRCIKCHKWGHVNTDRECPLFGLSGINASSVPTDGSGPSMHPSELIAEMRNSGFA 180 Q86X95 IQVRNVRCIKCHKWGHVNTDRECPLFGLSGINASSVPTDGSGPSMHPSELIAEMRNSGFA 180 CIR1 LKRNVLGRNLTANDPSQEYVASEGEEDPEVEFLKSLTTKQKQKLLRKLDRLEKKKKKKDR 240 Q86X95 LKRNVLGRNLTANDPSQEYVASEGEEDPEVEFLKSLTTKQKQKLLRKLDRLEKKKKKKDR 240 CIR1 KKKKFQKSRSKHKKHKSSSSSSSSSSSSSSTETSESSSESESNNKEKKIQRKKRKKNKCS 300 Q86X95 KKKKFQKSRSKHKKHKSSSSSSSSSSSSSSTETSESSSESESNNKEKKIQRKKRKKNKCS 300 CIR1 GHNNSDSEEKDKSKKRKLHEELSSSHHNREKAKEKPRFLKHESSREDSKWSHSDSDKKSR 360 Q86X95 GHNNSDSEEKDKSKKRKLHEELSSSHHNREKAKEKPRFLKHESSREDSKWSHSDSDKKSR 360 CIR1 THKHSPEKRGSERKEGSSRSHGREERSRRSRSRSPGSYKQRETRKRAQRNPGEEQSRRND 420 Q86X95 THKHSPEKRGSERKEGSSRSHGREERSRRSRSRSPGSYKQRETRKRAQRNPGEEQSRRND 420 CIR1 SRSHGTDLYRGEKMYREHPGGTHTKVTQRE Q86X95 SRSHGTDLYRGEKMYREHPGGTHTKVTQRE

More details

Wildtype Residue : S Mutant Position : 155 Mutant label : p.S155L Feature Name :Pfam-B_16354:52-448( 52- 448 )
Q86X95 PTHR13151:SF0 PTHR13151:SF0 2 450 Overlap 100.00
CIR1 MGKSFANFMCKKDFHPASKSNIKKVWMAEQKISYDKKKQEELMQQYLKEQESYDNRLLMG 60 Q86X95 MGKSFANFMCKKDFHPASKSNIKKVWMAEQKISYDKKKQEELMQQYLKEQESYDNRLLMG 60 CIR1 DERVKNGLNFMYEAPPGAKKENKEKEETEGETEYKFEWQKGAPREKYAKDDMNIRDQPFG 120 Q86X95 DERVKNGLNFMYEAPPGAKKENKEKEETEGETEYKFEWQKGAPREKYAKDDMNIRDQPFG 120 CIR1 IQVRNVRCIKCHKWGHVNTDRECPLFGLSGINASSVPTDGSGPSMHPSELIAEMRNSGFA 180 Q86X95 IQVRNVRCIKCHKWGHVNTDRECPLFGLSGINASSVPTDGSGPSMHPSELIAEMRNSGFA 180 CIR1 LKRNVLGRNLTANDPSQEYVASEGEEDPEVEFLKSLTTKQKQKLLRKLDRLEKKKKKKDR 240 Q86X95 LKRNVLGRNLTANDPSQEYVASEGEEDPEVEFLKSLTTKQKQKLLRKLDRLEKKKKKKDR 240 CIR1 KKKKFQKSRSKHKKHKSSSSSSSSSSSSSSTETSESSSESESNNKEKKIQRKKRKKNKCS 300 Q86X95 KKKKFQKSRSKHKKHKSSSSSSSSSSSSSSTETSESSSESESNNKEKKIQRKKRKKNKCS 300 CIR1 GHNNSDSEEKDKSKKRKLHEELSSSHHNREKAKEKPRFLKHESSREDSKWSHSDSDKKSR 360 Q86X95 GHNNSDSEEKDKSKKRKLHEELSSSHHNREKAKEKPRFLKHESSREDSKWSHSDSDKKSR 360 CIR1 THKHSPEKRGSERKEGSSRSHGREERSRRSRSRSPGSYKQRETRKRAQRNPGEEQSRRND 420 Q86X95 THKHSPEKRGSERKEGSSRSHGREERSRRSRSRSPGSYKQRETRKRAQRNPGEEQSRRND 420 CIR1 SRSHGTDLYRGEKMYREHPGGTHTKVTQRE Q86X95 SRSHGTDLYRGEKMYREHPGGTHTKVTQRE

More details

Wildtype Residue : S Mutant Position : 155 Mutant label : p.S155L Feature Name :PTHR13151:SF0( 2- 450 )
Q86X95 PTHR13151 PTHR13151 2 450 Overlap 100.00
CIR1 MGKSFANFMCKKDFHPASKSNIKKVWMAEQKISYDKKKQEELMQQYLKEQESYDNRLLMG 60 Q86X95 MGKSFANFMCKKDFHPASKSNIKKVWMAEQKISYDKKKQEELMQQYLKEQESYDNRLLMG 60 CIR1 DERVKNGLNFMYEAPPGAKKENKEKEETEGETEYKFEWQKGAPREKYAKDDMNIRDQPFG 120 Q86X95 DERVKNGLNFMYEAPPGAKKENKEKEETEGETEYKFEWQKGAPREKYAKDDMNIRDQPFG 120 CIR1 IQVRNVRCIKCHKWGHVNTDRECPLFGLSGINASSVPTDGSGPSMHPSELIAEMRNSGFA 180 Q86X95 IQVRNVRCIKCHKWGHVNTDRECPLFGLSGINASSVPTDGSGPSMHPSELIAEMRNSGFA 180 CIR1 LKRNVLGRNLTANDPSQEYVASEGEEDPEVEFLKSLTTKQKQKLLRKLDRLEKKKKKKDR 240 Q86X95 LKRNVLGRNLTANDPSQEYVASEGEEDPEVEFLKSLTTKQKQKLLRKLDRLEKKKKKKDR 240 CIR1 KKKKFQKSRSKHKKHKSSSSSSSSSSSSSSTETSESSSESESNNKEKKIQRKKRKKNKCS 300 Q86X95 KKKKFQKSRSKHKKHKSSSSSSSSSSSSSSTETSESSSESESNNKEKKIQRKKRKKNKCS 300 CIR1 GHNNSDSEEKDKSKKRKLHEELSSSHHNREKAKEKPRFLKHESSREDSKWSHSDSDKKSR 360 Q86X95 GHNNSDSEEKDKSKKRKLHEELSSSHHNREKAKEKPRFLKHESSREDSKWSHSDSDKKSR 360 CIR1 THKHSPEKRGSERKEGSSRSHGREERSRRSRSRSPGSYKQRETRKRAQRNPGEEQSRRND 420 Q86X95 THKHSPEKRGSERKEGSSRSHGREERSRRSRSRSPGSYKQRETRKRAQRNPGEEQSRRND 420 CIR1 SRSHGTDLYRGEKMYREHPGGTHTKVTQRE Q86X95 SRSHGTDLYRGEKMYREHPGGTHTKVTQRE

More details

Wildtype Residue : S Mutant Position : 155 Mutant label : p.S155L Feature Name :PTHR13151( 2- 450 )
Q86X95 UniProt:curator Corepressor interacting with RBPJ 1 1 450 Overlap 100.00
CIR1 MGKSFANFMCKKDFHPASKSNIKKVWMAEQKISYDKKKQEELMQQYLKEQESYDNRLLMG 60 Q86X95 MGKSFANFMCKKDFHPASKSNIKKVWMAEQKISYDKKKQEELMQQYLKEQESYDNRLLMG 60 CIR1 DERVKNGLNFMYEAPPGAKKENKEKEETEGETEYKFEWQKGAPREKYAKDDMNIRDQPFG 120 Q86X95 DERVKNGLNFMYEAPPGAKKENKEKEETEGETEYKFEWQKGAPREKYAKDDMNIRDQPFG 120 CIR1 IQVRNVRCIKCHKWGHVNTDRECPLFGLSGINASSVPTDGSGPSMHPSELIAEMRNSGFA 180 Q86X95 IQVRNVRCIKCHKWGHVNTDRECPLFGLSGINASSVPTDGSGPSMHPSELIAEMRNSGFA 180 CIR1 LKRNVLGRNLTANDPSQEYVASEGEEDPEVEFLKSLTTKQKQKLLRKLDRLEKKKKKKDR 240 Q86X95 LKRNVLGRNLTANDPSQEYVASEGEEDPEVEFLKSLTTKQKQKLLRKLDRLEKKKKKKDR 240 CIR1 KKKKFQKSRSKHKKHKSSSSSSSSSSSSSSTETSESSSESESNNKEKKIQRKKRKKNKCS 300 Q86X95 KKKKFQKSRSKHKKHKSSSSSSSSSSSSSSTETSESSSESESNNKEKKIQRKKRKKNKCS 300 CIR1 GHNNSDSEEKDKSKKRKLHEELSSSHHNREKAKEKPRFLKHESSREDSKWSHSDSDKKSR 360 Q86X95 GHNNSDSEEKDKSKKRKLHEELSSSHHNREKAKEKPRFLKHESSREDSKWSHSDSDKKSR 360 CIR1 THKHSPEKRGSERKEGSSRSHGREERSRRSRSRSPGSYKQRETRKRAQRNPGEEQSRRND 420 Q86X95 THKHSPEKRGSERKEGSSRSHGREERSRRSRSRSPGSYKQRETRKRAQRNPGEEQSRRND 420 CIR1 SRSHGTDLYRGEKMYREHPGGTHTKVTQRE Q86X95 SRSHGTDLYRGEKMYREHPGGTHTKVTQRE

More details

Wildtype Residue : S Mutant Position : 155 Mutant label : p.S155L Feature Name :Corepressor interacting with RBPJ 1( 1- 450 )
This tab displays a table of pathways affected by the mutation [more details]
SourcePathways
WikiPathwayDelta-Notch Signaling Pathway
This tab displays a table of references for the mutation [more details]
Reference Title Author Year Journal Status COSMIC Pubmed