Annotation Summary for Cell Line: OCI-M1  

Cell line primary name: OCI-M1
Cell line aliases:
Gender:
Site Primary: haematopoietic_and_lymphoid_tissue
Histology: haematopoietic_neoplasm
Hist Subtype1: acute_myeloid_leukaemia
Notes:
Source: DSMZ
Expression arrays: WATCH_p_NCLE_RNA8_HG-U133_Plus_2_F11_474766
SNP arrays: CHARY_p_NCLE_DNAAffy9_GenomeWideSNP_6_F12_490516
Oncomap: yes
Hybrid Capture Sequencing: yes


Mutations in OCI-M1

GeneProtein
Change
ChrStartEnd SampleNCBI
Build
Variant
Classification
Variant TypeReference
Allele
Tumor
Allele 1
dbSNP IDAnnotation
Transcript
Other
Transcripts
Method View
Reads
Mutation
Assessor
ADAM17 2 9630245 9630245 OCIM1_HAEMATOPO... 37 3'UTR Del T - uc002qzu.2 IAH1_uc010yiz.1... Hybrid_Cap...
ADAM28 8 24211994 24211997 OCIM1_HAEMATOPO... 37 3'UTR Del CTAT - rs10610134 uc003xdy.2 ADAM28_uc011laa... Hybrid_Cap...
AKAP12 p.1531_1532insE 6 151674116 151674117 OCIM1_HAEMATOPO... 37 In_Frame_Ins Ins - GAG rs34737819 uc011eep.1 AKAP12_uc003qoe... Hybrid_Cap...
ALPK1 4 113347609 113347610 OCIM1_HAEMATOPO... 37 Intron Ins - T rs68137453 uc003iap.3 ALPK1_uc003ian.... Hybrid_Cap...
ALPK2 p.1388_1389FF>F 18 56203253 56203255 OCIM1_HAEMATOPO... 37 In_Frame_Del Del AAG - uc002lhj.3 ALPK2_uc002lhk.... Hybrid_Cap...
ATP11A p.D913N 13 113514610 113514610 OCIM1_HAEMATOPO... 37 Missense_Mutation SNP G A uc001vsj.3 ATP11A_uc001vsi... Hybrid_Cap... view
AURKC 19 57742494 57742507 OCIM1_HAEMATOPO... 37 5'UTR Del GGACG... - rs67926438;rs112039303;rs59094959 uc002qoe.2 AURKC_uc002qoc.... Hybrid_Cap...
BRCA1 p.D1799G 17 41201211 41201211 OCIM1_HAEMATOPO... 37 Missense_Mutation SNP T C rs80357041 uc002ict.2 BRCA1_uc010whp.... Hybrid_Cap... view
C6ORF97 p.R39Q 6 151857511 151857511 OCIM1_HAEMATOPO... 37 Missense_Mutation SNP G A uc003qol.2 Hybrid_Cap... view
CABC1 1 227171585 227171585 OCIM1_HAEMATOPO... 37 Intron Del T - uc001hqm.1 CABC1_uc001hqn.... Hybrid_Cap...
CASC5 p.E1818fs 15 40917838 40917838 OCIM1_HAEMATOPO... 37 Frame_Shift_Del Del G - uc010bbs.1 CASC5_uc010ucq.... Hybrid_Cap...
CCR5 p.C20S 3 46414451 46414451 OCIM1_HAEMATOPO... 37 Missense_Mutation SNP T A uc003cpo.3 CCR5_uc010hjd.2... Hybrid_Cap... view
CCR6 6 167416772 167416772 OCIM1_HAEMATOPO... 37 5'UTR SNP G C uc003qvl.2 FGFR1OP_uc011eg... Hybrid_Cap... view
CLTCL1 p.V1201_splice 22 19189003 19189004 OCIM1_HAEMATOPO... 37 Splice_Site_Ins Ins - C rs11386977 uc002zpb.2 CLTCL1_uc011agv... Hybrid_Cap...
CNTN1 p.R235_splice 12 41323806 41323806 OCIM1_HAEMATOPO... 37 Splice_Site_SNP SNP T A uc001rmm.1 CNTN1_uc009zjy.... Hybrid_Cap... view
COL3A1 p.E1233Q 2 189873821 189873821 OCIM1_HAEMATOPO... 37 Missense_Mutation SNP G C uc002uqj.1 Hybrid_Cap... view
CREB3L2 7 137565046 137565046 OCIM1_HAEMATOPO... 37 3'UTR SNP G C uc003vtw.2 CREB3L2_uc003vt... Hybrid_Cap... view
CREBBP p.R1427_splice 16 3788675 3788675 OCIM1_HAEMATOPO... 37 Splice_Site_SNP SNP T C uc002cvv.2 CREBBP_uc002cvw... Hybrid_Cap... view
CSMD3 p.E1919V 8 113418806 113418806 OCIM1_HAEMATOPO... 37 Missense_Mutation SNP T A uc003ynu.2 CSMD3_uc003yns.... Hybrid_Cap... view
CUBN p.A3140T 10 16911671 16911671 OCIM1_HAEMATOPO... 37 Missense_Mutation SNP C T uc001ioo.2 CUBN_uc009xjq.1... Hybrid_Cap... view
DIP2C p.T181T 10 468825 468825 OCIM1_HAEMATOPO... 37 Silent SNP C T uc001ifp.2 DIP2C_uc009xhk.... Hybrid_Cap... view
DST p.S4818Y 6 56354355 56354355 OCIM1_HAEMATOPO... 37 Missense_Mutation SNP G T uc003pdf.2 DST_uc003pcz.3_... Hybrid_Cap... view
DYRK1A 21 38884966 38884967 OCIM1_HAEMATOPO... 37 3'UTR Ins - T rs72430212 uc002ywk.2 DYRK1A_uc002ywi... Hybrid_Cap...
EIF4E 4 99808137 99808141 OCIM1_HAEMATOPO... 37 Intron Del TTAAA - uc011ceb.1 EIF4E_uc011cea.... Hybrid_Cap...
EPHA5 4 66189753 66189754 OCIM1_HAEMATOPO... 37 3'UTR Ins - T rs67487372 uc011cah.1 EPHA5_uc003hcx.... Hybrid_Cap...
EPHA6 3 97367230 97367231 OCIM1_HAEMATOPO... 37 Intron Ins - A rs115253553 uc010how.1 EPHA6_uc003drs.... Hybrid_Cap...
ETV1 7 14028708 14028708 OCIM1_HAEMATOPO... 37 5'UTR Del A - rs77190713 uc011jxq.1 ETV1_uc011jxn.1... Hybrid_Cap...
ETV5 p.P194Q 3 185797801 185797801 OCIM1_HAEMATOPO... 37 Missense_Mutation SNP G T uc003fpy.2 ETV5_uc003fpz.2... Hybrid_Cap... view
FANCI 15 89790861 89790861 OCIM1_HAEMATOPO... 37 5'UTR SNP T C uc010bnp.1 FANCI_uc002bnm.... Hybrid_Cap... view
FASN p.A1491T 17 80042768 80042768 OCIM1_HAEMATOPO... 37 Missense_Mutation SNP C T uc002kdu.2 FASN_uc002kdv.1... Hybrid_Cap... view
FGFR1OP 6 167453519 167453520 OCIM1_HAEMATOPO... 37 3'UTR Ins - T rs115519488 uc003qvj.2 CCR6_uc003qvl.2... Hybrid_Cap...
FGFR2 p.I423M 10 123274652 123274652 OCIM1_HAEMATOPO... 37 Missense_Mutation SNP G C uc010qtj.1 FGFR2_uc010qtg.... Hybrid_Cap... view
FN1 2 216244182 216244185 OCIM1_HAEMATOPO... 37 Intron Del GTAC - uc002vfa.2 FN1_uc002vfb.2_... Hybrid_Cap...
FOXP1 3 71019797 71019797 OCIM1_HAEMATOPO... 37 Intron SNP A T uc003dol.2 FOXP1_uc003dom.... Hybrid_Cap... view
GLI2 p.R1382H 2 121747635 121747635 OCIM1_HAEMATOPO... 37 Missense_Mutation SNP G A uc010flp.2 GLI2_uc002tmq.1... Hybrid_Cap... view
GOPC p.E161G 6 117896508 117896508 OCIM1_HAEMATOPO... 37 Missense_Mutation SNP T C uc003pxu.2 GOPC_uc003pxq.1... Hybrid_Cap... view
GPR112 p.D2657del X 135474445 135474447 OCIM1_HAEMATOPO... 37 In_Frame_Del Del GAT - rs3030295 uc004ezu.1 GPR112_uc010nsb... Hybrid_Cap...
GRIA3 X 122318386 122318387 OCIM1_HAEMATOPO... 37 Splice_Site_Ins Ins - G rs66632982 uc004etq.3 GRIA3_uc004etr.... Hybrid_Cap...
GRIK1 p.A749V 21 30934055 30934055 OCIM1_HAEMATOPO... 37 Missense_Mutation SNP G A uc011acs.1 GRIK1_uc002ynn.... Hybrid_Cap... view
GRK1 p.F58S 13 114321874 114321874 OCIM1_HAEMATOPO... 37 Missense_Mutation SNP T C uc010tkf.1 Hybrid_Cap... view
GUCY2C 12 14827464 14827466 OCIM1_HAEMATOPO... 37 Intron Del ATC - rs72525754;rs3083879 uc001rcd.2 GUCY2C_uc009zhz... Hybrid_Cap...
HDAC3 5 141000960 141000960 OCIM1_HAEMATOPO... 37 3'UTR SNP G A uc003llf.2 DIAPH1_uc003llb... Hybrid_Cap... view
HIF1A 14 62213929 62213930 OCIM1_HAEMATOPO... 37 3'UTR Ins - T rs67890419 uc001xfs.2 HIF1A_uc001xfq.... Hybrid_Cap...
HNF1A 12 121434630 121434631 OCIM1_HAEMATOPO... 37 Intron Ins - TCATTCAT rs75100977 uc010szn.1 HNF1A_uc001tze.... Hybrid_Cap...
HSP90AB1 p.M1I 6 44216369 44216369 OCIM1_HAEMATOPO... 37 Missense_Mutation SNP G A uc003oxa.1 HSP90AB1_uc011d... Hybrid_Cap... view
ILK 11 6630029 6630029 OCIM1_HAEMATOPO... 37 Intron Del C - uc001mee.2 ILK_uc001mef.2_... Hybrid_Cap...
IRAK2 p.P267F 3 10258628 10258629 OCIM1_HAEMATOPO... 37 Missense_Mutation DNP CC TT uc003bve.1 Hybrid_Cap...
ITPR2 p.R470_splice 12 26834804 26834805 OCIM1_HAEMATOPO... 37 Splice_Site_Ins Ins - ACTC rs66696203;rs59199365 uc001rhg.2 Hybrid_Cap...
JAK1 p.V658F 1 65312347 65312347 OCIM1_HAEMATOPO... 37 Missense_Mutation SNP C A uc001dbu.1 JAK1_uc009wam.1... Hybrid_Cap... view
KALRN p.T140A 3 123983505 123983505 OCIM1_HAEMATOPO... 37 Missense_Mutation SNP A G uc003ehg.2 KALRN_uc010hrv.... Hybrid_Cap... view
KALRN p.S2976G 3 124438282 124438282 OCIM1_HAEMATOPO... 37 Missense_Mutation SNP A G uc003ehg.2 KALRN_uc003ehk.... Hybrid_Cap... view
KLK7 19 51480672 51480675 OCIM1_HAEMATOPO... 37 3'UTR Del GGTT - uc002puo.2 KLK7_uc002pup.2... Hybrid_Cap...
LAMA1 p.R2446_splice 18 6962059 6962059 OCIM1_HAEMATOPO... 37 Splice_Site_SNP SNP C A uc002knm.2 LAMA1_uc002knl.... Hybrid_Cap... view
LIFR p.R418L 5 38506045 38506045 OCIM1_HAEMATOPO... 37 Missense_Mutation SNP C A uc010ive.1 LIFR_uc003jli.2... Hybrid_Cap... view
MAML3 p.Q767_splice 4 140651585 140651587 OCIM1_HAEMATOPO... 37 Splice_Site_Del Del CTG - uc003ihz.1 MGST2_uc010ioi.... Hybrid_Cap...
MAP3K1 p.T949del 5 56177849 56177851 OCIM1_HAEMATOPO... 37 In_Frame_Del Del CAA - uc003jqw.3 Hybrid_Cap...
MAP3K10 p.R512R 19 40715108 40715108 OCIM1_HAEMATOPO... 37 Silent SNP C A uc002ona.2 MAP3K10_uc002on... Hybrid_Cap... view
MCL1 1 150552096 150552096 OCIM1_HAEMATOPO... 37 5'UTR SNP C G uc001euz.2 MCL1_uc010pch.1... Hybrid_Cap... view
MLLT3 9 20620908 20620909 OCIM1_HAEMATOPO... 37 Intron Ins - T uc003zoe.2 MLLT3_uc011lne.... Hybrid_Cap...
MYLK2 p.R549H 20 30419875 30419875 OCIM1_HAEMATOPO... 37 Missense_Mutation SNP G A uc002wwq.2 MYLK2_uc002wws.... Hybrid_Cap... view
NCAM1 11 112832307 112832308 OCIM1_HAEMATOPO... 37 5'UTR Ins - A rs117108942 uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCAM1 11 112832340 112832340 OCIM1_HAEMATOPO... 37 5'UTR Del C - uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NEK3 p.K313_splice 13 52718050 52718051 OCIM1_HAEMATOPO... 37 Splice_Site_Ins Ins - T rs72514762 uc001vgh.2 NEK3_uc001vgg.2... Hybrid_Cap...
NFATC1 18 77287653 77287654 OCIM1_HAEMATOPO... 37 3'UTR Del AA - uc010xfg.1 NFATC1_uc002lnd... Hybrid_Cap...
NFIA 1 61921185 61921186 OCIM1_HAEMATOPO... 37 3'UTR Ins - T rs57270124;rs76131997 uc010oos.1 NFIA_uc001czy.2... Hybrid_Cap...
NIN 14 51194354 51194354 OCIM1_HAEMATOPO... 37 Intron SNP G T uc001wyi.2 NIN_uc001wyj.2_... Hybrid_Cap... view
NR1H2 p.176_177insQ 19 50881820 50881821 OCIM1_HAEMATOPO... 37 In_Frame_Ins Ins - AAC rs66783852;rs112359270 uc010enw.2 NR1H2_uc002prv.... Hybrid_Cap...
NUP214 9 134067556 134067557 OCIM1_HAEMATOPO... 37 Intron Ins - T rs66652901 uc004cag.2 NUP214_uc004cah... Hybrid_Cap...
PAX3 2 223158653 223158653 OCIM1_HAEMATOPO... 37 Intron Del T - rs112753212 uc002vmt.1 PAX3_uc002vmy.1... Hybrid_Cap...
PHIP p.G1242V 6 79668249 79668249 OCIM1_HAEMATOPO... 37 Missense_Mutation SNP C A uc003pir.2 PHIP_uc003piq.2... Hybrid_Cap... view
PKHD1 p.A3969S 6 51484199 51484199 OCIM1_HAEMATOPO... 37 Missense_Mutation SNP C A uc003pah.1 Hybrid_Cap... view
PKHD1 p.R3637C 6 51524015 51524015 OCIM1_HAEMATOPO... 37 Missense_Mutation SNP G A uc003pah.1 Hybrid_Cap... view
PKMYT1 16 3022901 3022901 OCIM1_HAEMATOPO... 37 3'UTR SNP G A uc002csn.2 PAQR4_uc002csj.... Hybrid_Cap... view
PML 15 74327941 74327941 OCIM1_HAEMATOPO... 37 Intron SNP C G uc002awv.2 PML_uc002awm.2_... Hybrid_Cap... view
PMS1 2 190670539 190670540 OCIM1_HAEMATOPO... 37 Intron Ins - A rs3214425 uc002urh.3 PMS1_uc010zga.1... Hybrid_Cap...
PRKDC p.L1244fs 8 48805816 48805817 OCIM1_HAEMATOPO... 37 Frame_Shift_Ins Ins - G rs67588121 uc003xqi.2 PRKDC_uc003xqj.... Hybrid_Cap...
PTGS2 p.R455C 1 186644423 186644423 OCIM1_HAEMATOPO... 37 Missense_Mutation SNP G A uc001gsb.2 PTGS2_uc009wyo.... Hybrid_Cap... view
PTK2 8 141669505 141669505 OCIM1_HAEMATOPO... 37 3'UTR SNP T C uc003yvt.2 PTK2_uc011ljp.1... Hybrid_Cap... view
PTPRC p.L1263F 1 198725182 198725182 OCIM1_HAEMATOPO... 37 Missense_Mutation SNP C T uc001gur.1 PTPRC_uc001gus.... Hybrid_Cap... view
RASGRF1 p.D202N 15 79341858 79341858 OCIM1_HAEMATOPO... 37 Missense_Mutation SNP C T uc002beq.2 RASGRF1_uc002be... Hybrid_Cap... view
RBPJ 4 26431822 26431822 OCIM1_HAEMATOPO... 37 Intron Del A - rs76214390 uc003grx.1 RBPJ_uc003gry.1... Hybrid_Cap...
RECQL4 p.R766fs 8 145738768 145738768 OCIM1_HAEMATOPO... 37 Frame_Shift_Del Del G - uc003zdj.2 Hybrid_Cap...
RPS6KA5 14 91360733 91360734 OCIM1_HAEMATOPO... 37 Intron Ins - T rs77438853 uc001xys.2 RPS6KA5_uc010tw... Hybrid_Cap...
SACS p.Y4478fs 13 23904581 23904582 OCIM1_HAEMATOPO... 37 Frame_Shift_Ins Ins - T uc001uon.2 SACS_uc001uoo.2... Hybrid_Cap...
SERPINA12 p.E114K 14 94964395 94964395 OCIM1_HAEMATOPO... 37 Missense_Mutation SNP C T uc001ydj.2 Hybrid_Cap... view
SMARCA4 p.N926I 19 11132561 11132561 OCIM1_HAEMATOPO... 37 Missense_Mutation SNP A T uc010dxo.2 SMARCA4_uc002mq... Hybrid_Cap... view
SMURF1 p.P307Q 7 98647297 98647297 OCIM1_HAEMATOPO... 37 Missense_Mutation SNP G T uc003upu.1 SMURF1_uc003upv... Hybrid_Cap... view
STAT5A 17 40462797 40462800 OCIM1_HAEMATOPO... 37 3'UTR Del TGTG - uc002hzj.1 STAT5A_uc010cya... Hybrid_Cap...
STK31 7 23872024 23872025 OCIM1_HAEMATOPO... 37 3'UTR Ins - TTTG rs66787534 uc003sws.3 STK31_uc003swt.... Hybrid_Cap...
TNFRSF4 p.G226fs 1 1147169 1147169 OCIM1_HAEMATOPO... 37 Frame_Shift_Del Del C - uc001ade.2 TNFRSF4_uc001ad... Hybrid_Cap...
TP53 p.L145R 17 7578496 7578496 OCIM1_HAEMATOPO... 37 Missense_Mutation SNP A C uc002gim.2 TP53_uc002gig.1... Hybrid_Cap... view
TP53 p.V225_splice 17 7577610 7577610 OCIM1_HAEMATOPO... 37 Splice_Site_SNP SNP T G uc002gim.2 TP53_uc002gig.1... Hybrid_Cap... view
TRIM33 1 114940211 114940212 OCIM1_HAEMATOPO... 37 3'UTR Ins - T rs66490349 uc001eew.2 TRIM33_uc010owr... Hybrid_Cap...
TRPS1 8 116635872 116635873 OCIM1_HAEMATOPO... 37 5'UTR Ins - A rs76893349 uc003yny.2 TRPS1_uc011lhy.... Hybrid_Cap...
VEGFC p.S419_splice 4 177605082 177605084 OCIM1_HAEMATOPO... 37 Splice_Site_Del Del TCA - uc003ius.1 Hybrid_Cap...