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NCI-H2052 - Mutations - Cell Line Synopsis



    


COSMIC - Cell Lines Project

145 mutations reported
53 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
CLOCKENSG00000134852ENST00000381322p.Q629Hc.1887G>CSubstitution - Missense
LDB2ENSG00000169744ENST00000304523p.T83Tc.249C>ASubstitution - coding silent
BRD8ENSG00000112983ENST00000254900p.T212Nc.635C>ASubstitution - Missense
SGIP1ENSG00000118473ENST00000371037p.I143Mc.429A>GSubstitution - Missense
LDB2ENSG00000169744ENST00000441778p.T83Tc.249C>ASubstitution - coding silent
SPTAN1ENSG00000197694ENST00000372731p.A1255Tc.3763G>ASubstitution - Missense
ADAMTS20ENSG00000173157ENST00000553158p.L198Lc.594G>TSubstitution - coding silent
WSCD2ENSG00000075035ENST00000261400p.Y548Cc.1643A>GSubstitution - Missense
SLITRK5ENSG00000165300ENST00000400028p.N521Nc.1563C>TSubstitution - coding silent
PEX11BENSG00000131779ENST00000369306p.N92Sc.275A>GSubstitution - Missense
NLRP4ENSG00000160505ENST00000587891p.K884Qc.2650A>CSubstitution - Missense
HCAR2ENSG00000182782ENST00000328880p.G173Gc.519T>GSubstitution - coding silent
ENST00000345013p.F4Fc.12C>TSubstitution - coding silent
SGIP1ENSG00000118473ENST00000237247p.I147Mc.441A>GSubstitution - Missense
ETS1ENSG00000134954ENST00000392668p.R255*c.763C>TSubstitution - Nonsense
CLK3ENSG00000179335ENST00000395066p.?c.813+8G>TUnknown
ZHX1ENSG00000165156ENST00000395571p.A614Vc.1841C>TSubstitution - Missense
ANKS1BENSG00000185046ENST00000329257p.L515Lc.1545C>TSubstitution - coding silent
SLC45A4ENSG00000022567ENST00000517878p.T391Pc.1171A>CSubstitution - Missense
ENST00000344648p.N8Kc.24T>ASubstitution - Missense
FAT2ENSG00000086570ENST00000261800p.D3355Yc.10063G>TSubstitution - Missense
TTNENSG00000155657ENST00000342992p.S7762Ac.23284T>GSubstitution - Missense
SLCO1B1ENSG00000134538ENST00000256958p.Y358Yc.1074T>CSubstitution - coding silent
PSD3ENSG00000156011ENST00000327040p.T153Kc.458C>ASubstitution - Missense
ENST00000338885p.T193Tc.579C>ASubstitution - coding silent
NF2ENSG00000186575ENST00000403999p.R341*c.1021C>TSubstitution - Nonsense
NFX1ENSG00000086102ENST00000318524p.Q740Kc.2218C>ASubstitution - Missense
TOLLIPENSG00000078902ENST00000317204p.E272Gc.815A>GSubstitution - Missense
NLRP6ENSG00000174885ENST00000312165p.K474Qc.1420A>CSubstitution - Missense
OR10AG1ENSG00000174970ENST00000312345p.L178Ic.532C>ASubstitution - Missense
ARHGEF11ENSG00000132694ENST00000315174p.T708Tc.2124C>TSubstitution - coding silent
CHD2ENSG00000173575ENST00000394196p.G1333Gc.3999T>GSubstitution - coding silent
NM_001271.1p.G1333Gc.3999T>GSubstitution - coding silent
ABCA8ENSG00000141338ENST00000430352p.G1320Gc.3960A>GSubstitution - coding silent
NM_006226.1p.E983Kc.2947G>ASubstitution - Missense
ENST00000356127p.S7762Ac.23284T>GSubstitution - Missense
STAMBPENSG00000124356ENST00000394070p.?c.867+8G>AUnknown
HTR3DENSG00000186090ENST00000428798p.H361Yc.1081C>TSubstitution - Missense
BRD8ENSG00000112983ENST00000230901p.T212Nc.635C>ASubstitution - Missense
ARID1BENSG00000049618ENST00000346085p.S1397Tc.4190G>CSubstitution - Missense
SLC45A4ENSG00000022567ENST00000024061p.T340Pc.1018A>CSubstitution - Missense
CSMD1ENSG00000183117ENST00000539096p.S993Sc.2979C>TSubstitution - coding silent
KCNT1ENSG00000107147ENST00000263604p.V816Mc.2446G>ASubstitution - Missense
ULK3ENSG00000140474ENST00000440863p.V465Gc.1394T>GSubstitution - Missense
CLK3ENSG00000179335ENST00000345005p.?c.369+8G>TUnknown
NF2ENSG00000186575ENST00000338641p.R341*c.1021C>TSubstitution - Nonsense
KMT2DENSG00000167548ENST00000301067p.?c.3765-9G>AUnknown
OR4D6ENSG00000166884ENST00000300127p.K80Nc.240G>CSubstitution - Missense
NM_032590.2p.C355Rc.1063T>CSubstitution - Missense
POU2F3ENSG00000137709ENST00000260264p.E48Gc.143A>GSubstitution - Missense
LIMCH1ENSG00000064042ENST00000512820p.?c.238-3_241deltagGACAUnknown
FAM135BENSG00000147724ENST00000395297p.D910Hc.2728G>CSubstitution - Missense
RYR2ENSG00000198626ENST00000366574p.C948Cc.2844T>CSubstitution - coding silent
NLRP4ENSG00000160505ENST00000301295p.K959Qc.2875A>CSubstitution - Missense
TPRENSG00000047410ENST00000367478p.E1281Kc.3841G>ASubstitution - Missense
MARCH10ENSG00000173838ENST00000311269p.P173Lc.518C>TSubstitution - Missense
RPS9ENSG00000170889ENST00000391752p.?c.408-7C>AUnknown
ENST00000300959p.D108Dc.324C>TSubstitution - coding silent
C1QTNF7ENSG00000163145ENST00000429690p.F268Sc.803T>CSubstitution - Missense
PLCL1ENSG00000115896ENST00000428675p.E1081Kc.3241G>ASubstitution - Missense
LGR4ENSG00000205213ENST00000379214p.?c.618-4T>GUnknown
KCNK13ENSG00000152315ENST00000282146p.R341Pc.1022G>CSubstitution - Missense
SGIP1ENSG00000118473ENST00000371039p.I119Mc.357A>GSubstitution - Missense
PDE9AENSG00000160191ENST00000291539p.?c.1591-2A>TUnknown
CPS1ENSG00000021826ENST00000430249p.?c.3774+9T>GUnknown
ABCA8ENSG00000141338ENST00000269080p.G1280Gc.3840A>GSubstitution - coding silent
ZNF780AENSG00000197782ENST00000340963p.I73Kc.218T>ASubstitution - Missense
NFX1ENSG00000086102ENST00000379540p.Q740Kc.2218C>ASubstitution - Missense
DTX2ENSG00000091073ENST00000324432p.S420Sc.1260C>TSubstitution - coding silent
CXorf30ENSG00000205081ENST00000378657p.G367Gc.1101T>CSubstitution - coding silent
ETS1ENSG00000134954ENST00000319397p.R211*c.631C>TSubstitution - Nonsense
CNTN2ENSG00000184144ENST00000331830p.T210Pc.628A>CSubstitution - Missense
ADAMTS20ENSG00000173157ENST00000389420p.L198Lc.594G>TSubstitution - coding silent
EYA1ENSG00000104313ENST00000388742p.?c.124+5G>CUnknown
SERPINB8ENSG00000166401ENST00000397985p.A12Ac.36C>TSubstitution - coding silent
KCNT1ENSG00000107147ENST00000298480p.V835Mc.2503G>ASubstitution - Missense
NBASENSG00000151779ENST00000281513p.L1862Vc.5584C>GSubstitution - Missense
RYR2ENSG00000198626ENST00000360064p.C946Cc.2838T>CSubstitution - coding silent
SLITRK5ENSG00000165300ENST00000325089p.N762Nc.2286C>TSubstitution - coding silent
NM_015461.1p.R937Qc.2810G>ASubstitution - Missense
FSCBENSG00000189139ENST00000340446p.V115Vc.345A>GSubstitution - coding silent
FLRT2ENSG00000185070ENST00000330753p.L357Vc.1069C>GSubstitution - Missense
ANKRD11ENSG00000167522ENST00000301030p.D1738Gc.5213A>GSubstitution - Missense
SERTAD2ENSG00000179833ENST00000313349p.M1Lc.1A>TSubstitution - Missense
ARID1BENSG00000049618ENST00000275248p.S1379Tc.4136G>CSubstitution - Missense
HSPA1LENSG00000204390ENST00000375654p.T224Nc.671C>ASubstitution - Missense
CPS1ENSG00000021826ENST00000233072p.?c.3756+9T>GUnknown
ABCA10ENSG00000154263ENST00000269081p.L839fs*4c.2515_2518delCTCGDeletion - Frameshift
RELENSG00000162924ENST00000295025p.N576fs*33c.1725delADeletion - Frameshift
ENST00000382675p.R191Ic.572G>TSubstitution - Missense
ARHGEF11ENSG00000132694ENST00000368194p.T1332Tc.3996C>TSubstitution - coding silent
MCF2ENSG00000101977ENST00000370576p.V443Lc.1327G>CSubstitution - Missense
TNRC6CENSG00000078687ENST00000301624p.A1189Ac.3567G>ASubstitution - coding silent
TNRC6CENSG00000078687ENST00000335749p.A1186Ac.3558G>ASubstitution - coding silent
WSCD2ENSG00000075035ENST00000332082p.Y528Cc.1583A>GSubstitution - Missense
KMT2DENSG00000167548ENST00000301067p.?c.4584-9G>AUnknown
LARP4ENSG00000161813ENST00000398473p.R412Qc.1235G>ASubstitution - Missense
KRT5ENSG00000186081ENST00000252242p.R391Wc.1171C>TSubstitution - Missense
ANKS1BENSG00000185046ENST00000547776p.L515Lc.1545C>TSubstitution - coding silent
NRAPENSG00000197893ENST00000359988p.E737Ec.2211G>ASubstitution - coding silent
ADAMTS20ENSG00000173157ENST00000389420p.L198Lc.594G>TSubstitution - coding silent
KRR1ENSG00000111615ENST00000229214p.Q28Hc.84A>TSubstitution - Missense
PAMR1ENSG00000149090ENST00000278360p.Y181Cc.542A>GSubstitution - Missense
VRTNENSG00000133980ENST00000256362p.G550Vc.1649G>TSubstitution - Missense
TTC18ENSG00000156042ENST00000355577p.L586Fc.1758G>CSubstitution - Missense
KDM2BENSG00000089094ENST00000377071p.C716Rc.2146T>CSubstitution - Missense
KDM2BENSG00000089094ENST00000377069p.C685Rc.2053T>CSubstitution - Missense
SPAG17ENSG00000155761ENST00000336338p.P1828Pc.5484T>CSubstitution - coding silent
NEMFENSG00000165525ENST00000298310p.P178Tc.532C>ASubstitution - Missense
MTF2ENSG00000143033ENST00000370298p.?c.287-2A>GUnknown
ENST00000393466p.?c.4809+1G>TUnknown
NXPH3ENSG00000182575ENST00000328741p.V219Ic.655G>ASubstitution - Missense
SLC25A53ENSG00000176274ENST00000357421p.*308Ec.922T>GNonstop extension
DOT1LENSG00000104885ENST00000398665p.L533Pc.1598T>CSubstitution - Missense
ENST00000221482p.L533Pc.1598T>CSubstitution - Missense
SIGLEC7ENSG00000168995ENST00000317643p.I463Mc.1389C>GSubstitution - Missense
SIGLEC1ENSG00000088827ENST00000344754p.E1677Kc.5029G>ASubstitution - Missense
RAD54BENSG00000197275ENST00000336148p.I527Mc.1581C>GSubstitution - Missense
WSCD1ENSG00000179314ENST00000317744p.L18Pc.53T>CSubstitution - Missense
LIMCH1ENSG00000064042ENST00000313860p.?c.238-3_241deltagGACAUnknown
SLC37A3ENSG00000157800ENST00000326232p.R493Tc.1478G>CSubstitution - Missense
SLC37A3ENSG00000157800ENST00000340308p.E392Dc.1176G>CSubstitution - Missense
ACN9ENSG00000196636ENST00000432641p.H5Hc.15C>TSubstitution - coding silent
CSMD1ENSG00000183117ENST00000537824p.S993Sc.2979C>TSubstitution - coding silent
ENST00000318252p.S722Sc.2166C>TSubstitution - coding silent
XM_098980.6p.G909Gc.2727T>CSubstitution - coding silent
SSC5DENSG00000179954ENST00000389623p.S1103Fc.3308C>TSubstitution - Missense
ZNF587BENSG00000269343ENST00000442832p.Y354Hc.1060T>CSubstitution - Missense
ZNF416ENSG00000083817ENST00000196489p.A362Vc.1085C>TSubstitution - Missense
EIF4EENSG00000151247ENST00000450253p.L135Lc.405G>ASubstitution - coding silent
PLXNB1ENSG00000164050ENST00000296440p.V552Gc.1655T>GSubstitution - Missense
CABP5ENSG00000105507ENST00000293255p.?c.94+8C>TUnknown
SULT1A2ENSG00000197165ENST00000395630p.D263Gc.788A>GSubstitution - Missense
POTEFENSG00000196604ENST00000409914p.V754Vc.2262G>ASubstitution - coding silent
LNPEPENSG00000113441ENST00000231368p.K521Nc.1563A>TSubstitution - Missense
CUEDC1ENSG00000180891ENST00000577830p.R263*c.787C>TSubstitution - Nonsense
ZNF780AENSG00000197782ENST00000455521p.I108Kc.323T>ASubstitution - Missense
MCF2ENSG00000101977ENST00000519895p.V503Lc.1507G>CSubstitution - Missense
MCF2ENSG00000101977ENST00000370573p.V443Lc.1327G>CSubstitution - Missense
MCF2ENSG00000101977ENST00000370578p.V588Lc.1762G>CSubstitution - Missense
CEACAM8ENSG00000124469ENST00000244336p.N197Sc.590A>GSubstitution - Missense
FAM135BENSG00000147724ENST00000395297p.D910Hc.2728G>CSubstitution - Missense
SPTAN1ENSG00000197694ENST00000372739p.A1255Tc.3763G>ASubstitution - Missense
HTR3DENSG00000186090ENST00000382489p.H411Yc.1231C>TSubstitution - Missense
HTR3DENSG00000186090ENST00000334128p.H236Yc.706C>TSubstitution - Missense


COSMIC

9 mutations reported
2 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
NF2ENSG00000186575ENST00000338641p.R341*c.1021C>TSubstitution - Nonsense7882313
MOB3BENSG00000120162ENST00000262244p.R70Wc.208C>TSubstitution - Missense
NF2ENSG00000186575ENST00000338641p.R341*c.1021C>TSubstitution - Nonsense
MCF2ENSG00000101977ENST00000370576p.V443Lc.1327G>CSubstitution - Missense
MCF2ENSG00000101977ENST00000370576p.V443Lc.1327G>CSubstitution - Missense
NM_002847.2p.S715Sc.2145C>TSubstitution - coding silent
ETS1ENSG00000134954ENST00000319397p.R211*c.631C>TSubstitution - Nonsense
HSPA1LENSG00000204390ENST00000375654p.T224Nc.671C>ASubstitution - Missense
ARHGEF11ENSG00000132694ENST00000368194p.T1332Tc.3996C>TSubstitution - coding silent