Annotation Summary for Cell Line: CAL-54  

Cell line primary name: CAL-54
Cell line aliases:
Gender: M
Site Primary: kidney
Histology: carcinoma
Hist Subtype1: renal_cell_carcinoma
Notes:
Source: DSMZ
Expression arrays: SILOS_p_NCLE_RNA9_HG-U133_Plus_2_F07_523500
SNP arrays: MISTS_p_NCLE_DNAAffy11_GenomeWideSNP_6_F09_578406
Oncomap: yes
Hybrid Capture Sequencing: yes


Mutations in CAL-54

GeneProtein
Change
ChrStartEnd SampleNCBI
Build
Variant
Classification
Variant TypeReference
Allele
Tumor
Allele 1
dbSNP IDAnnotation
Transcript
Other
Transcripts
Method View
Reads
Mutation
Assessor
ADAM28 8 24211994 24211997 CAL54_KIDNEY 37 3'UTR Del CTAT - rs10610134 uc003xdy.2 ADAM28_uc011laa... Hybrid_Cap...
AKAP12 p.1531_1532insE 6 151674116 151674117 CAL54_KIDNEY 37 In_Frame_Ins Ins - GAG rs34737819 uc011eep.1 AKAP12_uc003qoe... Hybrid_Cap...
AKAP9 p.E606Q 7 91631047 91631047 CAL54_KIDNEY 37 Missense_Mutation SNP G C uc003ulg.2 AKAP9_uc003ule.... Hybrid_Cap... view
ALPK2 p.1388_1389FF>F 18 56203253 56203255 CAL54_KIDNEY 37 In_Frame_Del Del AAG - uc002lhj.3 ALPK2_uc002lhk.... Hybrid_Cap...
ASH2L p.Y341H 8 37978523 37978523 CAL54_KIDNEY 37 Missense_Mutation SNP T C uc003xkt.3 ASH2L_uc011lbk.... Hybrid_Cap... view
ASPH p.A264_splice 8 62550924 62550925 CAL54_KIDNEY 37 Splice_Site_Ins Ins - A rs5891816 uc003xuj.2 ASPH_uc011leg.1... Hybrid_Cap...
BCL3 19 45262965 45262965 CAL54_KIDNEY 37 3'UTR Del C - uc010xxe.1 Hybrid_Cap...
BLM p.E307G 15 91295137 91295137 CAL54_KIDNEY 37 Missense_Mutation SNP A G uc002bpr.2 BLM_uc010uqh.1_... Hybrid_Cap... view
CABC1 1 227171585 227171585 CAL54_KIDNEY 37 Intron Del T - uc001hqm.1 CABC1_uc001hqn.... Hybrid_Cap...
CAMKK2 p.I435N 12 121687609 121687609 CAL54_KIDNEY 37 Missense_Mutation SNP A T uc001tzu.2 CAMKK2_uc001tzt... Hybrid_Cap... view
CDH3 p.I389M 16 68716375 68716375 CAL54_KIDNEY 37 Missense_Mutation SNP C G uc002ewf.2 CDH3_uc010vli.1... Hybrid_Cap... view
CDK10 16 89759883 89759885 CAL54_KIDNEY 37 Intron Del CTT - uc010cio.2 CDK10_uc010cip.... Hybrid_Cap...
CDK8 p.A347T 13 26975413 26975413 CAL54_KIDNEY 37 Missense_Mutation SNP G A uc001uqr.1 CDK8_uc001uqs.1... Hybrid_Cap... view
CHD1 p.P1684del 5 98192165 98192167 CAL54_KIDNEY 37 In_Frame_Del Del AGG - rs79267787;rs61749618 uc003knf.2 CHD1_uc010jbn.2... Hybrid_Cap...
CLTCL1 p.V1201_splice 22 19189003 19189004 CAL54_KIDNEY 37 Splice_Site_Ins Ins - C rs11386977 uc002zpb.2 CLTCL1_uc011agv... Hybrid_Cap...
CNTN6 3 1339681 1339686 CAL54_KIDNEY 37 Intron Del GTTTT... - uc003boz.2 CNTN6_uc010hbo.... Hybrid_Cap...
CXCL12 10 44873992 44873993 CAL54_KIDNEY 37 Intron Ins - CT rs117617571 uc001jbh.2 CXCL12_uc001jbf... Hybrid_Cap...
DAPK1 p.V1373M 9 90322103 90322103 CAL54_KIDNEY 37 Missense_Mutation SNP G A uc004apc.2 DAPK1_uc004apd.... Hybrid_Cap... view
EIF4E 4 99808137 99808141 CAL54_KIDNEY 37 Intron Del TTAAA - uc011ceb.1 EIF4E_uc011cea.... Hybrid_Cap...
EPHA5 4 66189753 66189754 CAL54_KIDNEY 37 3'UTR Ins - T rs67487372 uc011cah.1 EPHA5_uc003hcx.... Hybrid_Cap...
EPHA7 p.E414D 6 94066517 94066517 CAL54_KIDNEY 37 Missense_Mutation SNP T G uc003poe.2 EPHA7_uc003pof.... Hybrid_Cap... view
EPHB6 7 142568771 142568771 CAL54_KIDNEY 37 3'UTR Del C - uc011kst.1 EPHB6_uc011ksu.... Hybrid_Cap...
EPS15 1 51822220 51822220 CAL54_KIDNEY 37 3'UTR Del A - uc001csq.1 EPS15_uc009vyz.... Hybrid_Cap...
FBXW7 p.R13* 4 153332919 153332919 CAL54_KIDNEY 37 Nonsense_Mutation SNP G A uc003ims.2 FBXW7_uc011cii.... Hybrid_Cap... view
FGFR1OP 6 167453519 167453520 CAL54_KIDNEY 37 3'UTR Ins - T rs115519488 uc003qvj.2 CCR6_uc003qvl.2... Hybrid_Cap...
FGFR3 4 1809128 1809129 CAL54_KIDNEY 37 3'UTR Del GT - uc003gdu.2 FGFR3_uc003gdr.... Hybrid_Cap...
FH p.I120V 1 241676923 241676923 CAL54_KIDNEY 37 Missense_Mutation SNP T C uc001hyx.2 Hybrid_Cap... view
FLI1 11 128638217 128638217 CAL54_KIDNEY 37 Intron Del G - uc010sbu.1 FLI1_uc010sbt.1... Hybrid_Cap...
FMN2 p.L196F 1 240255995 240255995 CAL54_KIDNEY 37 Missense_Mutation SNP C T uc010pye.1 FMN2_uc010pyd.1... Hybrid_Cap... view
FN1 2 216244182 216244185 CAL54_KIDNEY 37 Intron Del GTAC - uc002vfa.2 FN1_uc002vfb.2_... Hybrid_Cap...
GAS7 17 9939993 9939993 CAL54_KIDNEY 37 Intron SNP C T uc002gmg.1 GAS7_uc002gmj.1... Hybrid_Cap... view
GATA1 p.L81P X 48650272 48650272 CAL54_KIDNEY 37 Missense_Mutation SNP T C uc004dkq.3 Hybrid_Cap... view
GRB7 p.R29Q 17 37898640 37898640 CAL54_KIDNEY 37 Missense_Mutation SNP G A uc002hsr.2 GRB7_uc002hss.2... Hybrid_Cap... view
GRIA3 X 122318386 122318387 CAL54_KIDNEY 37 Splice_Site_Ins Ins - G rs66632982 uc004etq.3 GRIA3_uc004etr.... Hybrid_Cap...
GUCY2C 12 14827464 14827466 CAL54_KIDNEY 37 Intron Del ATC - rs72525754;rs3083879 uc001rcd.2 GUCY2C_uc009zhz... Hybrid_Cap...
HNF1A 12 121434630 121434631 CAL54_KIDNEY 37 Intron Ins - TCATTCAT rs75100977 uc010szn.1 HNF1A_uc001tze.... Hybrid_Cap...
ILK 11 6630029 6630029 CAL54_KIDNEY 37 Intron Del C - uc001mee.2 ILK_uc001mef.2_... Hybrid_Cap...
ITGA7 p.P95R 12 56096885 56096885 CAL54_KIDNEY 37 Missense_Mutation SNP G C uc001shh.2 ITGA7_uc001shg.... Hybrid_Cap... view
ITIH5L p.W359_splice X 54786186 54786187 CAL54_KIDNEY 37 Splice_Site_Ins Ins - A uc004dtj.2 Hybrid_Cap...
KLK7 19 51480672 51480675 CAL54_KIDNEY 37 3'UTR Del GGTT - uc002puo.2 KLK7_uc002pup.2... Hybrid_Cap...
MAMDC4 p.D719G 9 139751868 139751868 CAL54_KIDNEY 37 Missense_Mutation SNP A G uc004cjs.2 MAMDC4_uc011mej... Hybrid_Cap... view
MAML3 p.Q767_splice 4 140651585 140651587 CAL54_KIDNEY 37 Splice_Site_Del Del CTG - uc003ihz.1 MGST2_uc010ioi.... Hybrid_Cap...
MAP3K1 p.T949del 5 56177849 56177851 CAL54_KIDNEY 37 In_Frame_Del Del CAA - uc003jqw.3 Hybrid_Cap...
MAP3K14 p.R218_splice 17 43364293 43364294 CAL54_KIDNEY 37 Splice_Site_Ins Ins - G rs66766023 uc002iiw.1 MAP3K14_uc010da... Hybrid_Cap...
MAPKAPK3 3 50685575 50685575 CAL54_KIDNEY 37 3'UTR Del A - rs76026164 uc003day.1 MAPKAPK3_uc003d... Hybrid_Cap...
MCM4 p.G392_splice 8 48880047 48880048 CAL54_KIDNEY 37 Splice_Site_Ins Ins - A uc003xqk.1 MCM4_uc003xql.1... Hybrid_Cap...
MLL3 p.C3460F 7 151860283 151860283 CAL54_KIDNEY 37 Missense_Mutation SNP C A uc003wla.2 MLL3_uc003wkz.2... Hybrid_Cap... view
NCAM1 11 112832307 112832308 CAL54_KIDNEY 37 5'UTR Ins - A rs117108942 uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCAM1 11 112832340 112832340 CAL54_KIDNEY 37 5'UTR Del C - uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCOA3 p.QQQ1272del 20 46279815 46279823 CAL54_KIDNEY 37 In_Frame_Del Del GCAGC... - uc002xtk.2 NCOA3_uc010ght.... Hybrid_Cap...
NEK3 p.K313_splice 13 52718050 52718051 CAL54_KIDNEY 37 Splice_Site_Ins Ins - T rs72514762 uc001vgh.2 NEK3_uc001vgg.2... Hybrid_Cap...
NFKB1 p.D917_splice 4 103534740 103534741 CAL54_KIDNEY 37 Splice_Site_Ins Ins - A rs35795162 uc011cep.1 NFKB1_uc011ceq.... Hybrid_Cap...
NPR1 1 153665919 153665920 CAL54_KIDNEY 37 3'UTR Ins - C rs66682713 uc001fcs.3 NPR1_uc010pdz.1... Hybrid_Cap...
NR1H2 p.176_177insQ 19 50881820 50881821 CAL54_KIDNEY 37 In_Frame_Ins Ins - AAC rs66783852;rs112359270 uc010enw.2 NR1H2_uc002prv.... Hybrid_Cap...
NR1H2 p.176_177insQ 19 50881822 50881823 CAL54_KIDNEY 37 In_Frame_Ins Ins - CAG rs61751954;rs1052533 uc010enw.2 NR1H2_uc002prv.... Hybrid_Cap...
PCDH15 p.S631N 10 55892675 55892675 CAL54_KIDNEY 37 Missense_Mutation SNP C T uc010qhy.1 PCDH15_uc010qhq... Hybrid_Cap... view
PGGT1B 5 114548071 114548072 CAL54_KIDNEY 37 3'UTR Ins - C uc003kqw.3 PGGT1B_uc003kqx... Hybrid_Cap...
PIK3C2G p.P129del 12 18435399 18435401 CAL54_KIDNEY 37 In_Frame_Del Del CCC - uc010sib.1 PIK3C2G_uc001rd... Hybrid_Cap...
PIK3C2G 12 18800990 18800990 CAL54_KIDNEY 37 3'UTR Del A - rs16914368 uc010sib.1 PIK3C2G_uc001rd... Hybrid_Cap...
PIK3C3 p.L862Q 18 39647413 39647413 CAL54_KIDNEY 37 Missense_Mutation SNP T A uc002lap.2 PIK3C3_uc010xcl... Hybrid_Cap... view
PIK3C3 18 39661122 39661122 CAL54_KIDNEY 37 3'UTR SNP G A uc002lap.2 PIK3C3_uc010xcl... Hybrid_Cap... view
PMS1 2 190670539 190670540 CAL54_KIDNEY 37 Intron Ins - A rs3214425 uc002urh.3 PMS1_uc010zga.1... Hybrid_Cap...
PRAME p.F495del 22 22890533 22890535 CAL54_KIDNEY 37 In_Frame_Del Del AGA - uc002zwf.2 LOC96610_uc011a... Hybrid_Cap...
PREX2 p.R1262H 8 69046312 69046312 CAL54_KIDNEY 37 Missense_Mutation SNP G A uc003xxv.1 Hybrid_Cap... view
PRKAR1A 17 66526666 66526666 CAL54_KIDNEY 37 3'UTR SNP A C uc002jhg.2 PRKAR1A_uc002jh... Hybrid_Cap... view
PRKDC p.L1244fs 8 48805816 48805817 CAL54_KIDNEY 37 Frame_Shift_Ins Ins - G rs67588121 uc003xqi.2 PRKDC_uc003xqj.... Hybrid_Cap...
PXN 12 120650042 120650042 CAL54_KIDNEY 37 3'UTR SNP G A uc001txt.2 PXN_uc001txu.2_... Hybrid_Cap... view
RAG1 p.G1016fs 11 36597900 36597900 CAL54_KIDNEY 37 Frame_Shift_Del Del G - uc001mwu.3 RAG1_uc001mwt.2... Hybrid_Cap...
RARG p.G388D 12 53606883 53606883 CAL54_KIDNEY 37 Missense_Mutation SNP C T uc001sce.2 RARG_uc001scd.2... Hybrid_Cap... view
RECQL4 p.R766fs 8 145738768 145738768 CAL54_KIDNEY 37 Frame_Shift_Del Del G - uc003zdj.2 Hybrid_Cap...
RPS6KA5 14 91360733 91360734 CAL54_KIDNEY 37 Intron Ins - T rs77438853 uc001xys.2 RPS6KA5_uc010tw... Hybrid_Cap...
SEPT5 22 19709523 19709523 CAL54_KIDNEY 37 Intron SNP C T uc002zpv.1 SEPT5_uc002zpw.... Hybrid_Cap... view
SMARCA4 p.G1232S 19 11144113 11144113 CAL54_KIDNEY 37 Missense_Mutation SNP G A uc010dxo.2 SMARCA4_uc002mq... Hybrid_Cap... view
STK25 2 242435659 242435662 CAL54_KIDNEY 37 Intron Del AAGG - rs3215138;rs75497042 uc002wbm.2 STK25_uc002wbk.... Hybrid_Cap...
STK31 7 23872024 23872025 CAL54_KIDNEY 37 3'UTR Ins - TTTG rs66787534 uc003sws.3 STK31_uc003swt.... Hybrid_Cap...
TLK1 2 171850178 171850179 CAL54_KIDNEY 37 3'UTR Ins - AA rs71008739 uc002ugo.2 TLK1_uc002ugn.2... Hybrid_Cap...
TMEM123 11 102269398 102269398 CAL54_KIDNEY 37 3'UTR Del G - uc001pha.2 TMEM123_uc009yx... Hybrid_Cap...
TP53 17 7578712 7578713 CAL54_KIDNEY 37 Intron Del TT - uc002gim.2 TP53_uc002gig.1... Hybrid_Cap...
TRIM28 p.T274A 19 59059061 59059061 CAL54_KIDNEY 37 Missense_Mutation SNP A G uc002qtg.1 TRIM28_uc010eut... Hybrid_Cap... view
TRPS1 p.I554V 8 116616536 116616536 CAL54_KIDNEY 37 Missense_Mutation SNP T C uc003yny.2 TRPS1_uc011lhy.... Hybrid_Cap... view
TRPS1 8 116635872 116635873 CAL54_KIDNEY 37 5'UTR Ins - A rs76893349 uc003yny.2 TRPS1_uc011lhy.... Hybrid_Cap...
VEGFC p.S419_splice 4 177605082 177605084 CAL54_KIDNEY 37 Splice_Site_Del Del TCA - uc003ius.1 Hybrid_Cap...