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LB2241-RCC - Mutations - Cell Line Synopsis



    


COSMIC - Cell Lines Project

115 mutations reported
39 synonymous mutations reported
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External Data Sources: Catalogue of Somatic Mutations in Cancer
Gene Name(s) Gene Transcript AA Syntax CDS Syntax Mutation Type Pubmed ID
IL1RAPENSG00000196083ENST00000072516p.T509Mc.1526C>TSubstitution - Missense
POLLENSG00000166169ENST00000415897p.R216Wc.646C>TSubstitution - Missense
AKAP8LENSG00000011243ENST00000397410p.S536Rc.1608C>ASubstitution - Missense
AKAP8LENSG00000011243ENST00000397410p.S536Nc.1607G>ASubstitution - Missense
HPGDENSG00000164120ENST00000296522p.L229Fc.687G>CSubstitution - Missense
AADATENSG00000109576ENST00000337664p.I265Fc.793A>TSubstitution - Missense
HMGCS1ENSG00000112972ENST00000325110p.?c.1309+3A>TUnknown
GPBP1ENSG00000062194ENST00000506184p.S398Nc.1193G>ASubstitution - Missense
HLA-DRB1ENSG00000196126ENST00000360004p.V115Vc.345G>TSubstitution - coding silent
FBXW10ENSG00000171931ENST00000308799p.D370Dc.1110T>CSubstitution - coding silent
CHST5ENSG00000135702ENST00000541075p.P160Lc.479C>TSubstitution - Missense
HLA-AENSG00000206503ENST00000376806p.L180*c.539T>ASubstitution - Nonsense
MUC12ENSG00000205277ENST00000379442p.T5049Ac.15145A>GSubstitution - Missense
GABRR2ENSG00000111886ENST00000402938p.N337Yc.1009A>TSubstitution - Missense
HFM1ENSG00000162669ENST00000370425p.E1265Ec.3795A>GSubstitution - coding silent
FBXW10ENSG00000171931ENST00000395667p.D341Dc.1023T>CSubstitution - coding silent
ZNF705GENSG00000215372ENST00000400156p.P115Sc.343C>TSubstitution - Missense
MOV10L1ENSG00000073146ENST00000540615p.G110Rc.328G>CSubstitution - Missense
PCSK6ENSG00000140479ENST00000331826p.L278Lc.834G>ASubstitution - coding silent
PCSK6ENSG00000140479ENST00000348070p.L278Lc.834G>ASubstitution - coding silent
ENST00000331826_v68p.L113Lc.339G>ASubstitution - coding silent
TICAM1ENSG00000127666ENST00000248244p.F431Yc.1292T>ASubstitution - Missense
MORN4ENSG00000171160ENST00000307450p.K90*c.268A>TSubstitution - Nonsense
PZPENSG00000126838ENST00000381997p.G125Vc.374G>TSubstitution - Missense
TRPC6ENSG00000137672ENST00000344327p.I310Nc.929T>ASubstitution - Missense
SPAM1ENSG00000106304ENST00000340011p.N368Tc.1103A>CSubstitution - Missense
MORN4ENSG00000171160ENST00000335628p.K148*c.442A>TSubstitution - Nonsense
POLLENSG00000166169ENST00000299206p.R308Wc.922C>TSubstitution - Missense
TNFSF4ENSG00000117586ENST00000281834p.Q175Kc.523C>ASubstitution - Missense
MUC16ENSG00000181143ENST00000397910p.V10104Mc.30310G>ASubstitution - Missense
ENST00000331986p.V5737Mc.17209G>ASubstitution - Missense
ZNF112ENSG00000062370ENST00000337401p.A734Tc.2200G>ASubstitution - Missense
SCN1AENSG00000144285ENST00000303395p.?c.2565_2589+4>27Unknown
SCN1AENSG00000144285ENST00000423058p.?c.2565_2589+4>27Unknown
ZNF112ENSG00000062370ENST00000536500p.A751Tc.2251G>ASubstitution - Missense
FSIP2ENSG00000188738ENST00000343098p.Y965Yc.2895T>CSubstitution - coding silent
AKAP8LENSG00000011243ENST00000397410p.S536Nc.1607G>ASubstitution - Missense
ATP2A2ENSG00000174437ENST00000539276p.R614Qc.1841G>ASubstitution - Missense
CRYMENSG00000103316ENST00000219599p.D308Vc.923A>TSubstitution - Missense
RACGAP1ENSG00000161800ENST00000427314p.R306Rc.916C>ASubstitution - coding silent
SPAM1ENSG00000106304ENST00000439500p.N368Tc.1103A>CSubstitution - Missense
KDM6AENSG00000147050ENST00000377967p.?c.975-1G>TUnknown
MSH3ENSG00000113318ENST00000265081p.A62_P63insAAAPAAc.186_187ins18Insertion - In frame
ENST00000400156_v68p.P115Sc.343C>TSubstitution - Missense
GPR126ENSG00000112414ENST00000296932p.Y146Hc.436T>CSubstitution - Missense
ZNF112ENSG00000062370ENST00000337401p.A734Tc.2200G>ASubstitution - Missense
MOV10L1ENSG00000073146ENST00000262794p.G130Rc.388G>CSubstitution - Missense
ENST00000298953_v70p.?c.1791+7T>AUnknown
PPARGC1AENSG00000109819ENST00000264867p.S759Sc.2277T>CSubstitution - coding silent
EXTL3ENSG00000012232ENST00000220562p.L422Lc.1264T>CSubstitution - coding silent
PLCB1ENSG00000182621ENST00000338037p.T336Tc.1008A>GSubstitution - coding silent
GPBP1ENSG00000062194ENST00000538707p.S405Nc.1214G>ASubstitution - Missense
CEP350ENSG00000135837ENST00000367607p.V3103Vc.9309T>CSubstitution - coding silent
PLCB1ENSG00000182621ENST00000378641p.T336Tc.1008A>GSubstitution - coding silent
XM_377962.1p.H104Qc.312C>ASubstitution - Missense
HEATR3ENSG00000155393ENST00000299192p.S195Rc.583A>CSubstitution - Missense
KDM6AENSG00000147050ENST00000382899p.?c.975-1G>TUnknown
CEP350ENSG00000135837ENST00000367607p.V3103Vc.9309T>CSubstitution - coding silent
ENST00000356127p.S4512Sc.13536C>TSubstitution - coding silent
ELAC2ENSG00000006744ENST00000338034p.P606Tc.1816C>ASubstitution - Missense
NM_002439.1p.?c.180+6_180+7ins18Unknown
SCN1AENSG00000144285ENST00000375405p.?c.2532_2556+4>27Unknown
USP54ENSG00000166348ENST00000319786p.R580*c.1738C>TSubstitution - Nonsense
C12orf55ENSG00000188596ENST00000298953p.?c.1791+7T>AUnknown
THOC2ENSG00000125676ENST00000245838p.P1182Pc.3546T>ASubstitution - coding silent
HS3ST5ENSG00000249853ENST00000312719p.A105Vc.314C>TSubstitution - Missense
ITSN2ENSG00000198399ENST00000355123p.G1311*c.3931G>TSubstitution - Nonsense
RAG1ENSG00000166349ENST00000299440p.G606Gc.1818A>TSubstitution - coding silent
BEND2ENSG00000177324ENST00000380033p.E204fs*66c.611_632del22Deletion - Frameshift
SBNO1ENSG00000139697ENST00000267176p.L294Hc.881T>ASubstitution - Missense
ENST00000366809p.P1602Pc.4806T>ASubstitution - coding silent
NM_021140.1p.0c.975-1G>TNo detectable mRNA/protein
VAPBENSG00000124164ENST00000475243p.I152Kc.455T>ASubstitution - Missense
HLA-AENSG00000206503ENST00000396634p.L180*c.539T>ASubstitution - Nonsense
PGBD4ENSG00000182405ENST00000397766p.R202Wc.604C>TSubstitution - Missense
CHST5ENSG00000135702ENST00000336257p.P154Lc.461C>TSubstitution - Missense
FSIP2ENSG00000188738ENST00000343098p.Y965Yc.2895T>CSubstitution - coding silent
CCDC122ENSG00000151773ENST00000444614p.Q256Kc.766C>ASubstitution - Missense
USP54ENSG00000166348ENST00000408019p.R580*c.1738C>TSubstitution - Nonsense
MORN4ENSG00000171160ENST00000307450p.K90*c.268A>TSubstitution - Nonsense
ETS1ENSG00000134954ENST00000319397p.T16Ac.46A>GSubstitution - Missense
PZPENSG00000126838ENST00000261336p.G256Vc.767G>TSubstitution - Missense
LOXL4ENSG00000138131ENST00000260702p.T673Ic.2018C>TSubstitution - Missense
OTOGENSG00000188162ENST00000399397p.?c.6255+6T>CUnknown
MUC6ENSG00000184956ENST00000421673p.A1637Pc.4909G>CSubstitution - Missense
MUC6ENSG00000184956ENST00000421673p.A1637Pc.4909G>CSubstitution - Missense
ERI2ENSG00000196678ENST00000300005p.Q281*c.841C>TSubstitution - Nonsense
NR2F2ENSG00000185551ENST00000394166p.E97Dc.291G>CSubstitution - Missense
VPS33AENSG00000139719ENST00000267199p.?c.1302+9A>CUnknown
PCSK6ENSG00000140479ENST00000344273p.L278Lc.834G>ASubstitution - coding silent
ANKDD1AENSG00000166839ENST00000380230p.I311Mc.933C>GSubstitution - Missense
C15orf61ENSG00000189227ENST00000342683p.D99Gc.296A>GSubstitution - Missense
TTNENSG00000155657ENST00000342992p.S4512Sc.13536C>TSubstitution - coding silent
OTTHUMT00000058153.1p.P1103Pc.3309T>ASubstitution - coding silent
MUC16ENSG00000181143ENST00000397910p.G10156Rc.30466G>ASubstitution - Missense
ENST00000331986p.G5789Rc.17365G>ASubstitution - Missense
RPIAENSG00000153574ENST00000283646p.P130Tc.388C>ASubstitution - Missense
FZD1ENSG00000157240ENST00000287934p.T549Nc.1646C>ASubstitution - Missense
ZNF7ENSG00000147789ENST00000325241p.C280Sc.839G>CSubstitution - Missense
NF2ENSG00000186575ENST00000338641p.?c.241-6_241-2CTGCA>GUnknown
NF2ENSG00000186575ENST00000403999p.?c.241-6_241-2CTGCA>GUnknown
GOLGA4ENSG00000144674ENST00000361924p.V633Ac.1898T>CSubstitution - Missense
GPR126ENSG00000112414ENST00000367609p.Y146Hc.436T>CSubstitution - Missense
XPO1ENSG00000082898ENST00000401558p.?c.2813-7T>CUnknown
LTFENSG00000012223ENST00000231751p.V564Mc.1690G>ASubstitution - Missense
MUC12ENSG00000205277ENST00000536621p.T4906Ac.14716A>GSubstitution - Missense
CCDC171ENSG00000164989ENST00000380701p.T1240Pc.3718A>CSubstitution - Missense
ORAI3ENSG00000175938ENST00000318663p.S191Pc.571T>CSubstitution - Missense
ENST00000229606p.N312Yc.934A>TSubstitution - Missense
PCDHGB7ENSG00000254122ENST00000398594p.G325Rc.973G>ASubstitution - Missense
SH3RF2ENSG00000156463ENST00000359120p.V327Mc.979G>ASubstitution - Missense
ENST00000375724p.S382Sc.1146A>TSubstitution - coding silent
HARS2ENSG00000112855ENST00000230771p.S230Ic.689G>TSubstitution - Missense
MFAP3ENSG00000037749ENST00000322602p.M226Ic.678G>ASubstitution - Missense
AKAP8LENSG00000011243ENST00000397410p.S536Rc.1608C>ASubstitution - Missense


COSMIC

15 mutations reported
10 synonymous mutations reported
Filter:
External Data Sources: Catalogue of Somatic Mutations in Cancer
Gene Name(s) Gene Transcript AA Syntax CDS Syntax Mutation Type Pubmed ID
VAPBENSG00000124164ENST00000475243p.I152Kc.455T>ASubstitution - Missense
NM_001004342.2p.S149Ac.445T>GSubstitution - Missense
SBNO1ENSG00000139697ENST00000267176p.L294Hc.881T>ASubstitution - Missense
RAG1ENSG00000166349ENST00000299440p.G606Gc.1818A>TSubstitution - coding silent
RAG1ENSG00000166349ENST00000299440p.G606Gc.1818A>TSubstitution - coding silent
ENST00000366809p.P1602Pc.4806T>ASubstitution - coding silent
BEND2ENSG00000177324ENST00000380033p.E204fs*66c.611_632del22Deletion - Frameshift
PPARGC1AENSG00000109819ENST00000264867p.S759Sc.2277T>CSubstitution - coding silent
NM_021140.1p.0c.975-1G>TNo detectable mRNA/protein
NM_021140.1p.0c.975-1G>TNo detectable mRNA/protein
NM_021140.1p.0c.975-1G>TNo detectable mRNA/protein19330029
ITSN2ENSG00000198399ENST00000355123p.G1311*c.3931G>TSubstitution - Nonsense
RACGAP1ENSG00000161800ENST00000427314p.R306Rc.916C>ASubstitution - coding silent
RACGAP1ENSG00000161800ENST00000427314p.R306Rc.916C>ASubstitution - coding silent
NF2ENSG00000186575ENST00000338641p.?c.241-6_-2CTGCA>GUnknown