Annotation Summary for Cell Line: OPM-2  

Cell line primary name: OPM-2
Cell line aliases:
Gender: F
Site Primary: haematopoietic_and_lymphoid_tissue
Histology: lymphoid_neoplasm
Hist Subtype1: plasma_cell_myeloma
Notes:
Source: DSMZ
Expression arrays: WATCH_p_NCLE_RNA8_HG-U133_Plus_2_D12_474702
SNP arrays: CHARY_p_NCLE_DNAAffy9_GenomeWideSNP_6_F09_490366
Oncomap: yes
Hybrid Capture Sequencing: yes


Mutations in OPM-2

GeneProtein
Change
ChrStartEnd SampleNCBI
Build
Variant
Classification
Variant TypeReference
Allele
Tumor
Allele 1
dbSNP IDAnnotation
Transcript
Other
Transcripts
Method View
Reads
Mutation
Assessor
AAK1 p.541_542QQ>Q 2 69741754 69741756 OPM2_HAEMATOPOI... 37 In_Frame_Del Del TGT - rs55712143 uc002sfp.2 AAK1_uc010fdk.2... Hybrid_Cap...
ADAM22 p.F412_splice 7 87763641 87763642 OPM2_HAEMATOPOI... 37 Splice_Site_DNP DNP CA TT uc003ujp.1 ADAM22_uc003ujk... Hybrid_Cap...
ADAM28 8 24211994 24211997 OPM2_HAEMATOPOI... 37 3'UTR Del CTAT - rs10610134 uc003xdy.2 ADAM28_uc011laa... Hybrid_Cap...
ADAMTS18 p.R281G 16 77398216 77398216 OPM2_HAEMATOPOI... 37 Missense_Mutation SNP G C uc002ffc.3 ADAMTS18_uc010c... Hybrid_Cap... view
AKAP12 p.1531_1532insE 6 151674116 151674117 OPM2_HAEMATOPOI... 37 In_Frame_Ins Ins - GAG rs34737819 uc011eep.1 AKAP12_uc003qoe... Hybrid_Cap...
ALPK1 4 113347609 113347610 OPM2_HAEMATOPOI... 37 Intron Ins - T rs68137453 uc003iap.3 ALPK1_uc003ian.... Hybrid_Cap...
ASPH p.A264_splice 8 62550924 62550925 OPM2_HAEMATOPOI... 37 Splice_Site_Ins Ins - A rs5891816 uc003xuj.2 ASPH_uc011leg.1... Hybrid_Cap...
AURKC 19 57742494 57742507 OPM2_HAEMATOPOI... 37 5'UTR Del GGACG... - rs67926438;rs112039303;rs59094959 uc002qoe.2 AURKC_uc002qoc.... Hybrid_Cap...
CACNB2 10 18828721 18828722 OPM2_HAEMATOPOI... 37 3'UTR Ins - AA rs3841459 uc001ipr.2 CACNB2_uc009xjz... Hybrid_Cap...
CASC5 p.M550T 15 40914033 40914033 OPM2_HAEMATOPOI... 37 Missense_Mutation SNP T C uc010bbs.1 CASC5_uc010ucq.... Hybrid_Cap... view
CCDC50 3 191109605 191109605 OPM2_HAEMATOPOI... 37 3'UTR SNP T C uc003fsv.2 CCDC50_uc003fsw... Hybrid_Cap... view
CD44 p.M437V 11 35227685 35227685 OPM2_HAEMATOPOI... 37 Missense_Mutation SNP A G uc001mvu.2 CD44_uc001mvv.2... Hybrid_Cap... view
CDK11B 1 1654066 1654068 OPM2_HAEMATOPOI... 37 Intron Del GCG - uc001agv.1 CDK11B_uc001aha... Hybrid_Cap...
CDKL2 p.E294G 4 76525468 76525468 OPM2_HAEMATOPOI... 37 Missense_Mutation SNP T C uc011cbp.1 CDKL2_uc003hiq.... Hybrid_Cap... view
CHD1 p.P1684del 5 98192165 98192167 OPM2_HAEMATOPOI... 37 In_Frame_Del Del AGG - rs79267787;rs61749618 uc003knf.2 CHD1_uc010jbn.2... Hybrid_Cap...
CHD9 p.G1234E 16 53283818 53283818 OPM2_HAEMATOPOI... 37 Missense_Mutation SNP G A uc002ehb.2 CHD9_uc002egy.2... Hybrid_Cap... view
CLTCL1 p.V1201_splice 22 19189003 19189004 OPM2_HAEMATOPOI... 37 Splice_Site_Ins Ins - C rs11386977 uc002zpb.2 CLTCL1_uc011agv... Hybrid_Cap...
DAPK1 p.R48del 9 90219945 90219947 OPM2_HAEMATOPOI... 37 In_Frame_Del Del AGG - uc004apc.2 DAPK1_uc004ape.... Hybrid_Cap...
DAPK1 p.H1359N 9 90322061 90322061 OPM2_HAEMATOPOI... 37 Missense_Mutation SNP C A uc004apc.2 DAPK1_uc004apd.... Hybrid_Cap... view
DAPK3 p.F236F 19 3961081 3961081 OPM2_HAEMATOPOI... 37 Silent SNP G A uc002lzc.1 DAPK3_uc002lzb.... Hybrid_Cap... view
EPHA6 3 97367230 97367231 OPM2_HAEMATOPOI... 37 Intron Ins - A rs115253553 uc010how.1 EPHA6_uc003drs.... Hybrid_Cap...
EPS15 1 51822369 51822369 OPM2_HAEMATOPOI... 37 3'UTR SNP T G uc001csq.1 EPS15_uc009vyz.... Hybrid_Cap... view
ETV5 p.P395A 3 185775016 185775016 OPM2_HAEMATOPOI... 37 Missense_Mutation SNP G C uc003fpy.2 ETV5_uc003fpz.2... Hybrid_Cap... view
EXT2 p.T122M 11 44129528 44129528 OPM2_HAEMATOPOI... 37 Missense_Mutation SNP C T uc001mya.2 EXT2_uc010rfo.1... Hybrid_Cap... view
FASTK 7 150774879 150774879 OPM2_HAEMATOPOI... 37 Intron SNP C G uc003wix.1 FASTK_uc003wiw.... Hybrid_Cap... view
FBN2 p.E2423Q 5 127614405 127614405 OPM2_HAEMATOPOI... 37 Missense_Mutation SNP C G uc003kuu.2 Hybrid_Cap... view
FGFR1OP 6 167453519 167453520 OPM2_HAEMATOPOI... 37 3'UTR Ins - T rs115519488 uc003qvj.2 CCR6_uc003qvl.2... Hybrid_Cap...
FGFR3 p.K652E 4 1807889 1807889 OPM2_HAEMATOPOI... 37 Missense_Mutation SNP A G rs78311289 uc003gdu.2 FGFR3_uc003gdr.... Hybrid_Cap... view
FLI1 11 128638217 128638217 OPM2_HAEMATOPOI... 37 Intron Del G - uc010sbu.1 FLI1_uc010sbt.1... Hybrid_Cap...
FMN2 p.PPLPGAGIPPP939del 1 240370914 240370946 OPM2_HAEMATOPOI... 37 In_Frame_Del Del GCCCC... - rs4997328;rs4997329 uc010pye.1 FMN2_uc010pyd.1... Hybrid_Cap...
FMN2 p.R1344K 1 240374489 240374489 OPM2_HAEMATOPOI... 37 Missense_Mutation SNP G A uc010pye.1 FMN2_uc010pyd.1... Hybrid_Cap... view
FN1 2 216244182 216244185 OPM2_HAEMATOPOI... 37 Intron Del GTAC - uc002vfa.2 FN1_uc002vfb.2_... Hybrid_Cap...
FOXO4 p.D53H X 70316535 70316535 OPM2_HAEMATOPOI... 37 Missense_Mutation SNP G C uc004dys.1 FOXO4_uc010nkz.... Hybrid_Cap... view
FOXP1 3 71008341 71008342 OPM2_HAEMATOPOI... 37 3'UTR Ins - T rs11433724;rs114233617 uc003dol.2 FOXP1_uc003dom.... Hybrid_Cap...
GPR112 p.D2657del X 135474445 135474447 OPM2_HAEMATOPOI... 37 In_Frame_Del Del GAT - rs3030295 uc004ezu.1 GPR112_uc010nsb... Hybrid_Cap...
GRIA3 X 122318386 122318387 OPM2_HAEMATOPOI... 37 Splice_Site_Ins Ins - G rs66632982 uc004etq.3 GRIA3_uc004etr.... Hybrid_Cap...
GRIN2A p.I422L 16 9943677 9943677 OPM2_HAEMATOPOI... 37 Missense_Mutation SNP T G uc002czo.3 GRIN2A_uc010uym... Hybrid_Cap... view
GUCY2C 12 14827464 14827466 OPM2_HAEMATOPOI... 37 Intron Del ATC - rs72525754;rs3083879 uc001rcd.2 GUCY2C_uc009zhz... Hybrid_Cap...
HIF1A 14 62213929 62213930 OPM2_HAEMATOPOI... 37 3'UTR Ins - T rs67890419 uc001xfs.2 HIF1A_uc001xfq.... Hybrid_Cap...
HNF1A 12 121434630 121434631 OPM2_HAEMATOPOI... 37 Intron Ins - TCATTCAT rs75100977 uc010szn.1 HNF1A_uc001tze.... Hybrid_Cap...
HSP90B1 p.E791del 12 104341188 104341190 OPM2_HAEMATOPOI... 37 In_Frame_Del Del GAA - rs117491163 uc001tkb.1 HSP90B1_uc010sw... Hybrid_Cap...
ICK p.N252D 6 52880958 52880958 OPM2_HAEMATOPOI... 37 Missense_Mutation SNP T C uc003pbh.2 ICK_uc003pbi.2_... Hybrid_Cap... view
IL1A 2 113532597 113532597 OPM2_HAEMATOPOI... 37 3'UTR SNP A G uc002tig.2 Hybrid_Cap... view
ILK 11 6630029 6630029 OPM2_HAEMATOPOI... 37 Intron Del C - uc001mee.2 ILK_uc001mef.2_... Hybrid_Cap...
ITGA7 p.P757P 12 56088417 56088417 OPM2_HAEMATOPOI... 37 Silent SNP G T uc001shh.2 ITGA7_uc001shg.... Hybrid_Cap... view
ITGAV p.Y251C 2 187500929 187500929 OPM2_HAEMATOPOI... 37 Missense_Mutation SNP A G uc002upq.2 ITGAV_uc010frs.... Hybrid_Cap... view
ITPR2 p.R470_splice 12 26834804 26834805 OPM2_HAEMATOPOI... 37 Splice_Site_Ins Ins - ACTC rs66696203;rs59199365 uc001rhg.2 Hybrid_Cap...
KLK7 19 51480672 51480675 OPM2_HAEMATOPOI... 37 3'UTR Del GGTT - uc002puo.2 KLK7_uc002pup.2... Hybrid_Cap...
LRP1B p.N3839K 2 141113924 141113924 OPM2_HAEMATOPOI... 37 Missense_Mutation SNP G T uc002tvj.1 Hybrid_Cap... view
LRP1B p.M3837I 2 141113930 141113930 OPM2_HAEMATOPOI... 37 Missense_Mutation SNP C T uc002tvj.1 Hybrid_Cap... view
LRP1B p.Y3757H 2 141115674 141115674 OPM2_HAEMATOPOI... 37 Missense_Mutation SNP A G uc002tvj.1 Hybrid_Cap... view
MAML3 p.Q767_splice 4 140651585 140651587 OPM2_HAEMATOPOI... 37 Splice_Site_Del Del CTG - uc003ihz.1 MGST2_uc010ioi.... Hybrid_Cap...
MAP2K1 15 66679649 66679650 OPM2_HAEMATOPOI... 37 5'UTR Ins - C rs67229745 uc010bhq.2 Hybrid_Cap...
MAP3K1 p.T949del 5 56177849 56177851 OPM2_HAEMATOPOI... 37 In_Frame_Del Del CAA - uc003jqw.3 Hybrid_Cap...
MAP3K14 p.R218_splice 17 43364293 43364294 OPM2_HAEMATOPOI... 37 Splice_Site_Ins Ins - G rs66766023 uc002iiw.1 MAP3K14_uc010da... Hybrid_Cap...
MAP3K4 p.A1199del 6 161519351 161519353 OPM2_HAEMATOPOI... 37 In_Frame_Del Del CTG - uc003qtn.2 MAP3K4_uc010kkc... Hybrid_Cap...
MAP3K5 6 136878752 136878752 OPM2_HAEMATOPOI... 37 3'UTR Del T - rs79903899 uc003qhc.2 MAP3K5_uc011edj... Hybrid_Cap...
MAP4K4 2 102477452 102477452 OPM2_HAEMATOPOI... 37 Intron SNP G A uc002tbc.2 MAP4K4_uc002tbd... Hybrid_Cap... view
MATK p.E83_splice 19 3784334 3784334 OPM2_HAEMATOPOI... 37 Splice_Site_SNP SNP A G uc002lyv.2 MATK_uc002lyt.2... Hybrid_Cap... view
MINK1 p.F1298V 17 4800085 4800085 OPM2_HAEMATOPOI... 37 Missense_Mutation SNP T G uc010vsl.1 MINK1_uc010vsk.... Hybrid_Cap... view
MLLT10 p.P537P 10 21962838 21962838 OPM2_HAEMATOPOI... 37 Silent SNP A G uc001iqs.2 MLLT10_uc001iqt... Hybrid_Cap... view
MSH6 p.H164R 2 48023066 48023066 OPM2_HAEMATOPOI... 37 Missense_Mutation SNP A G uc002rwd.3 MSH6_uc002rwc.2... Hybrid_Cap... view
MTUS2 13 30002788 30002790 OPM2_HAEMATOPOI... 37 Intron Del CTC - uc001usl.3 MTUS2_uc001usm.... Hybrid_Cap...
MYH1 p.I993V 17 10406189 10406189 OPM2_HAEMATOPOI... 37 Missense_Mutation SNP T C uc002gmo.2 Hybrid_Cap... view
MYLK p.E1066del 3 123419117 123419119 OPM2_HAEMATOPOI... 37 In_Frame_Del Del TTC - rs72491150 uc003ego.2 MYLK_uc011bjw.1... Hybrid_Cap...
MYO3B p.H316L 2 171225863 171225863 OPM2_HAEMATOPOI... 37 Missense_Mutation SNP A T rs55633190 uc002ufy.2 MYO3B_uc002ufv.... Hybrid_Cap... view
NCAM1 11 112832307 112832308 OPM2_HAEMATOPOI... 37 5'UTR Ins - A rs117108942 uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCAM1 11 112832340 112832340 OPM2_HAEMATOPOI... 37 5'UTR Del C - uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NEK3 p.K313_splice 13 52718050 52718051 OPM2_HAEMATOPOI... 37 Splice_Site_Ins Ins - T rs72514762 uc001vgh.2 NEK3_uc001vgg.2... Hybrid_Cap...
NFIA 1 61921185 61921186 OPM2_HAEMATOPOI... 37 3'UTR Ins - T rs57270124;rs76131997 uc010oos.1 NFIA_uc001czy.2... Hybrid_Cap...
NFKBIA 14 35871136 35871138 OPM2_HAEMATOPOI... 37 3'UTR Del TTC - rs112369437 uc001wtf.3 NFKBIA_uc001wte... Hybrid_Cap...
NPR1 1 153665919 153665920 OPM2_HAEMATOPOI... 37 3'UTR Ins - C rs66682713 uc001fcs.3 NPR1_uc010pdz.1... Hybrid_Cap...
NR1H2 p.176_177insQ 19 50881820 50881821 OPM2_HAEMATOPOI... 37 In_Frame_Ins Ins - AAC rs66783852;rs112359270 uc010enw.2 NR1H2_uc002prv.... Hybrid_Cap...
NR1H3 p.A85V 11 47282116 47282116 OPM2_HAEMATOPOI... 37 Missense_Mutation SNP C T uc001nel.2 NR1H3_uc009yll.... Hybrid_Cap... view
NUP214 9 134067556 134067557 OPM2_HAEMATOPOI... 37 Intron Ins - T rs66652901 uc004cag.2 NUP214_uc004cah... Hybrid_Cap...
NUP98 p.F1078L 11 3723971 3723971 OPM2_HAEMATOPOI... 37 Missense_Mutation SNP G C uc001lyh.2 NUP98_uc001lyi.... Hybrid_Cap... view
OBSCN p.H4381C 1 228503676 228503677 OPM2_HAEMATOPOI... 37 Missense_Mutation DNP CA TG rs1150912 uc009xez.1 OBSCN_uc001hsn.... Hybrid_Cap...
OBSCN 1 228548161 228548161 OPM2_HAEMATOPOI... 37 Intron SNP C T uc009xez.1 OBSCN_uc001hsn.... Hybrid_Cap... view
OMD 9 95177382 95177382 OPM2_HAEMATOPOI... 37 3'UTR SNP T A rs77817998 uc004asd.3 CENPP_uc004arz.... Hybrid_Cap... view
PAX3 2 223066017 223066018 OPM2_HAEMATOPOI... 37 Intron Ins - C rs115619343 uc002vmt.1 PAX3_uc002vmy.1... Hybrid_Cap...
PAX3 2 223158653 223158653 OPM2_HAEMATOPOI... 37 Intron Del T - rs112753212 uc002vmt.1 PAX3_uc002vmy.1... Hybrid_Cap...
PAX5 9 37034081 37034081 OPM2_HAEMATOPOI... 37 5'UTR SNP G T uc003zzo.1 PAX5_uc011lpw.1... Hybrid_Cap... view
PAX5 9 37034095 37034095 OPM2_HAEMATOPOI... 37 5'UTR Del C - uc003zzo.1 PAX5_uc011lpw.1... Hybrid_Cap...
PDIK1L 1 26449075 26449075 OPM2_HAEMATOPOI... 37 3'UTR SNP T C uc010oew.1 PDIK1L_uc001blj... Hybrid_Cap... view
PDZRN4 p.K570N 12 41966888 41966888 OPM2_HAEMATOPOI... 37 Missense_Mutation SNP G T uc010skn.1 PDZRN4_uc001rmq... Hybrid_Cap... view
PIK3C2A 11 17111198 17111199 OPM2_HAEMATOPOI... 37 3'UTR Del GT - uc001mmq.3 PIK3C2A_uc009yg... Hybrid_Cap...
PIK3C2G p.P129del 12 18435399 18435401 OPM2_HAEMATOPOI... 37 In_Frame_Del Del CCC - uc010sib.1 PIK3C2G_uc001rd... Hybrid_Cap...
PIK3C2G 12 18800990 18800990 OPM2_HAEMATOPOI... 37 3'UTR Del A - rs16914368 uc010sib.1 PIK3C2G_uc001rd... Hybrid_Cap...
PMS1 2 190670539 190670540 OPM2_HAEMATOPOI... 37 Intron Ins - A rs3214425 uc002urh.3 PMS1_uc010zga.1... Hybrid_Cap...
PRKCB p.C115F 16 24043512 24043512 OPM2_HAEMATOPOI... 37 Missense_Mutation SNP G T uc002dme.2 PRKCB_uc002dmd.... Hybrid_Cap... view
PRKDC p.L1244fs 8 48805816 48805817 OPM2_HAEMATOPOI... 37 Frame_Shift_Ins Ins - G rs67588121 uc003xqi.2 PRKDC_uc003xqj.... Hybrid_Cap...
PSEN1 14 73686208 73686208 OPM2_HAEMATOPOI... 37 3'UTR SNP G A uc001xnr.2 PSEN1_uc001xnv.... Hybrid_Cap... view
RAD51 15 40990955 40990956 OPM2_HAEMATOPOI... 37 5'UTR Ins - A rs55714242 uc010bbx.2 RAD51_uc001zmi.... Hybrid_Cap...
RAPGEF2 p.L681R 4 160260497 160260497 OPM2_HAEMATOPOI... 37 Missense_Mutation SNP T G uc003iqg.3 Hybrid_Cap... view
RBL1 20 35632028 35632029 OPM2_HAEMATOPOI... 37 Intron Ins - A rs78780584 uc002xgi.2 RBL1_uc010zvt.1... Hybrid_Cap...
RBPJ 4 26431822 26431822 OPM2_HAEMATOPOI... 37 Intron Del A - rs76214390 uc003grx.1 RBPJ_uc003gry.1... Hybrid_Cap...
RECQL4 p.R766fs 8 145738768 145738768 OPM2_HAEMATOPOI... 37 Frame_Shift_Del Del G - uc003zdj.2 Hybrid_Cap...
RIF1 p.S269G 2 152285316 152285316 OPM2_HAEMATOPOI... 37 Missense_Mutation SNP A G uc002txm.2 RIF1_uc002txl.2... Hybrid_Cap... view
RPS6KA5 14 91360733 91360734 OPM2_HAEMATOPOI... 37 Intron Ins - T rs77438853 uc001xys.2 RPS6KA5_uc010tw... Hybrid_Cap...
RUNX1T1 p.D358E 8 92999151 92999151 OPM2_HAEMATOPOI... 37 Missense_Mutation SNP G C uc011lgi.1 RUNX1T1_uc003yf... Hybrid_Cap... view
SKP2 p.D301G 5 36177067 36177067 OPM2_HAEMATOPOI... 37 Missense_Mutation SNP A G uc003jkc.1 SKP2_uc011cou.1... Hybrid_Cap... view
SMAD2 p.L87R 18 45396912 45396912 OPM2_HAEMATOPOI... 37 Missense_Mutation SNP A C uc002lcy.2 SMAD2_uc002lcz.... Hybrid_Cap... view
SMG1 p.I3243V 16 18839367 18839367 OPM2_HAEMATOPOI... 37 Missense_Mutation SNP T C uc002dfm.2 SMG1_uc010bwb.2... Hybrid_Cap... view
TEC 4 48139307 48139310 OPM2_HAEMATOPOI... 37 3'UTR Del TTAT - rs79098351 uc003gxz.2 Hybrid_Cap...
TLK1 2 171850178 171850179 OPM2_HAEMATOPOI... 37 3'UTR Ins - AA rs71008739 uc002ugo.2 TLK1_uc002ugn.2... Hybrid_Cap...
TP53 p.R175H 17 7578406 7578406 OPM2_HAEMATOPOI... 37 Missense_Mutation SNP C T rs28934578 uc002gim.2 TP53_uc002gig.1... Hybrid_Cap... view
TP63 3 189507518 189507519 OPM2_HAEMATOPOI... 37 Intron Ins - AGAG rs62702062;rs79714037 uc003fry.2 TP63_uc003frx.2... Hybrid_Cap...
TRADD p.V12L 16 67190530 67190530 OPM2_HAEMATOPOI... 37 Missense_Mutation SNP C A uc002eri.1 TRADD_uc002erh.... Hybrid_Cap... view
TRIO p.F124L 5 14287004 14287004 OPM2_HAEMATOPOI... 37 Missense_Mutation SNP C A uc003jff.2 TRIO_uc003jfg.2... Hybrid_Cap... view
TRPM7 15 50978745 50978745 OPM2_HAEMATOPOI... 37 5'UTR SNP G A uc001zyt.3 TRPM7_uc010bew.... Hybrid_Cap... view
TTBK1 p.E771del 6 43250726 43250728 OPM2_HAEMATOPOI... 37 In_Frame_Del Del GAA - uc003ouq.1 Hybrid_Cap...
TTBK2 p.T1163M 15 43038240 43038240 OPM2_HAEMATOPOI... 37 Missense_Mutation SNP G A uc001zqo.2 TTBK2_uc010bcy.... Hybrid_Cap... view
TTBK2 p.A644P 15 43067401 43067401 OPM2_HAEMATOPOI... 37 Missense_Mutation SNP C G uc001zqo.2 TTBK2_uc010bcy.... Hybrid_Cap... view
TTN 2 179391639 179391640 OPM2_HAEMATOPOI... 37 3'UTR Ins - T rs36037175 uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap...
VEGFC p.S419_splice 4 177605082 177605084 OPM2_HAEMATOPOI... 37 Splice_Site_Del Del TCA - uc003ius.1 Hybrid_Cap...