Annotation Summary for Cell Line: OCI-AML5  

Cell line primary name: OCI-AML5
Cell line aliases:
Gender: M
Site Primary: haematopoietic_and_lymphoid_tissue
Histology: haematopoietic_neoplasm
Hist Subtype1: acute_myeloid_leukaemia
Notes:
Source: DSMZ
Expression arrays: SILOS_p_NCLE_RNA9_HG-U133_Plus_2_G10_523540
SNP arrays: MISTS_p_NCLE_DNAAffy11_GenomeWideSNP_6_C08_578282
Oncomap: yes
Hybrid Capture Sequencing: yes


Mutations in OCI-AML5

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 OCIAML5_HAEMATO... 37 3'UTR Del T - uc002qzu.2 IAH1_uc010yiz.1... Hybrid_Cap...
ADAM28 8 24211994 24211997 OCIAML5_HAEMATO... 37 3'UTR Del CTAT - rs10610134 uc003xdy.2 ADAM28_uc011laa... Hybrid_Cap...
AKAP12 p.1531_1532insE 6 151674116 151674117 OCIAML5_HAEMATO... 37 In_Frame_Ins Ins - GAG rs34737819 uc011eep.1 AKAP12_uc003qoe... Hybrid_Cap...
AKAP9 p.1335_1336insQ 7 91652178 91652179 OCIAML5_HAEMATO... 37 In_Frame_Ins Ins - AAC rs34756483 uc003ulg.2 AKAP9_uc003ule.... Hybrid_Cap...
ALPK1 4 113347609 113347610 OCIAML5_HAEMATO... 37 Intron Ins - T rs68137453 uc003iap.3 ALPK1_uc003ian.... Hybrid_Cap...
ALPK2 p.1388_1389FF>F 18 56203253 56203255 OCIAML5_HAEMATO... 37 In_Frame_Del Del AAG - uc002lhj.3 ALPK2_uc002lhk.... Hybrid_Cap...
BRD2 6 32948599 32948599 OCIAML5_HAEMATO... 37 3'UTR Del C - uc010juh.2 BRD2_uc003ocn.3... Hybrid_Cap...
BTG1 12 92537706 92537707 OCIAML5_HAEMATO... 37 3'UTR Ins - T rs33983967 uc001tby.3 BTG1_uc001tbv.1... Hybrid_Cap...
CABC1 1 227171585 227171585 OCIAML5_HAEMATO... 37 Intron Del T - uc001hqm.1 CABC1_uc001hqn.... Hybrid_Cap...
CACNB2 10 18828721 18828722 OCIAML5_HAEMATO... 37 3'UTR Ins - AA rs3841459 uc001ipr.2 CACNB2_uc009xjz... Hybrid_Cap...
CAMK2A 5 149602223 149602224 OCIAML5_HAEMATO... 37 3'UTR Del AC - uc003lrt.2 CAMK2A_uc003lrs... Hybrid_Cap...
CARS 11 3078658 3078658 OCIAML5_HAEMATO... 37 5'UTR SNP G A uc001lxf.2 CARS_uc001lxe.2... Hybrid_Cap... view
CDH2 p.C32* 18 25727713 25727714 OCIAML5_HAEMATO... 37 Nonsense_Mutation DNP GC TT uc002kwg.2 Hybrid_Cap...
CDK11B 1 1654066 1654068 OCIAML5_HAEMATO... 37 Intron Del GCG - uc001agv.1 CDK11B_uc001aha... Hybrid_Cap...
CHD1 p.P1684del 5 98192165 98192167 OCIAML5_HAEMATO... 37 In_Frame_Del Del AGG - rs79267787;rs61749618 uc003knf.2 CHD1_uc010jbn.2... Hybrid_Cap...
CLTCL1 p.V1201_splice 22 19189003 19189004 OCIAML5_HAEMATO... 37 Splice_Site_Ins Ins - C rs11386977 uc002zpb.2 CLTCL1_uc011agv... Hybrid_Cap...
CLTCL1 22 19196673 19196674 OCIAML5_HAEMATO... 37 Intron Ins - A uc002zpb.2 CLTCL1_uc011agv... Hybrid_Cap...
CREBBP p.G221V 16 3900434 3900434 OCIAML5_HAEMATO... 37 Missense_Mutation SNP C A uc002cvv.2 CREBBP_uc002cvw... Hybrid_Cap... view
CTNNA2 p.E750Q 2 80831257 80831257 OCIAML5_HAEMATO... 37 Missense_Mutation SNP G C uc010ysh.1 CTNNA2_uc010yse... Hybrid_Cap... view
CXCL12 10 44873992 44873993 OCIAML5_HAEMATO... 37 Intron Ins - CT rs117617571 uc001jbh.2 CXCL12_uc001jbf... Hybrid_Cap...
EIF2AK4 p.T791K 15 40278058 40278058 OCIAML5_HAEMATO... 37 Missense_Mutation SNP C A uc001zkm.1 EIF2AK4_uc010bb... Hybrid_Cap... view
EP300 22 41574970 41574972 OCIAML5_HAEMATO... 37 3'UTR Del GTA - rs76489032 uc003azl.3 Hybrid_Cap...
EPHA5 4 66189753 66189754 OCIAML5_HAEMATO... 37 3'UTR Ins - T rs67487372 uc011cah.1 EPHA5_uc003hcx.... Hybrid_Cap...
FANCI p.V1236I 15 89856189 89856189 OCIAML5_HAEMATO... 37 Missense_Mutation SNP G A uc010bnp.1 FANCI_uc002bnm.... Hybrid_Cap... view
FGFR3 4 1809128 1809129 OCIAML5_HAEMATO... 37 3'UTR Del GT - uc003gdu.2 FGFR3_uc003gdr.... Hybrid_Cap...
FLI1 11 128638217 128638217 OCIAML5_HAEMATO... 37 Intron Del G - uc010sbu.1 FLI1_uc010sbt.1... Hybrid_Cap...
FNBP1 9 132658078 132658079 OCIAML5_HAEMATO... 37 Intron Ins - T rs71738364 uc004byw.1 FNBP1_uc011mbv.... Hybrid_Cap...
FOXE1 9 100617332 100617332 OCIAML5_HAEMATO... 37 3'UTR SNP C T uc004axu.2 Hybrid_Cap... view
GRIA3 X 122318386 122318387 OCIAML5_HAEMATO... 37 Splice_Site_Ins Ins - G rs66632982 uc004etq.3 GRIA3_uc004etr.... Hybrid_Cap...
GUCY2C 12 14827464 14827466 OCIAML5_HAEMATO... 37 Intron Del ATC - rs72525754;rs3083879 uc001rcd.2 GUCY2C_uc009zhz... Hybrid_Cap...
HIF1A 14 62213929 62213930 OCIAML5_HAEMATO... 37 3'UTR Ins - T rs67890419 uc001xfs.2 HIF1A_uc001xfq.... Hybrid_Cap...
IL1RAP 3 190366139 190366139 OCIAML5_HAEMATO... 37 Intron SNP A C uc003fsq.2 IL1RAP_uc003fsm... Hybrid_Cap... view
ILK 11 6630029 6630029 OCIAML5_HAEMATO... 37 Intron Del C - uc001mee.2 ILK_uc001mef.2_... Hybrid_Cap...
ITPR2 p.R470_splice 12 26834804 26834805 OCIAML5_HAEMATO... 37 Splice_Site_Ins Ins - ACTC rs66696203;rs59199365 uc001rhg.2 Hybrid_Cap...
KLK7 19 51480672 51480675 OCIAML5_HAEMATO... 37 3'UTR Del GGTT - uc002puo.2 KLK7_uc002pup.2... Hybrid_Cap...
LRRK1 p.E1876K 15 101606268 101606268 OCIAML5_HAEMATO... 37 Missense_Mutation SNP G A uc002bwr.2 LRRK1_uc010usb.... Hybrid_Cap... view
MAML3 p.Q767_splice 4 140651585 140651587 OCIAML5_HAEMATO... 37 Splice_Site_Del Del CTG - uc003ihz.1 MGST2_uc010ioi.... Hybrid_Cap...
MAP3K1 p.T949del 5 56177849 56177851 OCIAML5_HAEMATO... 37 In_Frame_Del Del CAA - uc003jqw.3 Hybrid_Cap...
MAP3K14 p.R218_splice 17 43364293 43364294 OCIAML5_HAEMATO... 37 Splice_Site_Ins Ins - G rs66766023 uc002iiw.1 MAP3K14_uc010da... Hybrid_Cap...
MAP3K6 p.K1125del 1 27683230 27683232 OCIAML5_HAEMATO... 37 In_Frame_Del Del CTT - uc001bny.1 MAP3K6_uc009vsw... Hybrid_Cap...
MAPK14 6 36076345 36076354 OCIAML5_HAEMATO... 37 3'UTR Del GTGTG... - rs80147786 uc003olp.2 MAPK14_uc003olq... Hybrid_Cap...
MCM3APAS 21 47671275 47671276 OCIAML5_HAEMATO... 37 3'UTR Ins - AAT rs67797185 uc002zin.2 MCM3APAS_uc002z... Hybrid_Cap...
MLH1 3 37092174 37092176 OCIAML5_HAEMATO... 37 3'UTR Del TTC - uc003cgl.2 MLH1_uc011aye.1... Hybrid_Cap...
MLLT6 17 36881873 36881873 OCIAML5_HAEMATO... 37 3'UTR Del C - uc002hqi.3 MLLT6_uc002hqk.... Hybrid_Cap...
MSH3 p.PPA66del 5 79950742 79950750 OCIAML5_HAEMATO... 37 In_Frame_Del Del CCCCC... - rs60484572;rs1047489 uc003kgz.2 DHFR_uc011ctl.1... Hybrid_Cap...
MYH1 p.Y290fs 17 10416219 10416220 OCIAML5_HAEMATO... 37 Frame_Shift_Ins Ins - A uc002gmo.2 Hybrid_Cap...
MYLK p.E1430_splice 3 123368043 123368044 OCIAML5_HAEMATO... 37 Splice_Site_Ins Ins - G rs41431347 uc003ego.2 MYLK_uc010hrr.2... Hybrid_Cap...
NCAM1 11 112832307 112832308 OCIAML5_HAEMATO... 37 5'UTR Ins - A rs117108942 uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCAM1 11 112832340 112832340 OCIAML5_HAEMATO... 37 5'UTR Del C - uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCOA3 p.QQQ1274del 20 46279858 46279866 OCIAML5_HAEMATO... 37 In_Frame_Del Del CAGCA... - rs11472494;rs67218125;rs1132443;rs28529067 uc002xtk.2 NCOA3_uc010ght.... Hybrid_Cap...
NEK3 p.K313_splice 13 52718050 52718051 OCIAML5_HAEMATO... 37 Splice_Site_Ins Ins - T rs72514762 uc001vgh.2 NEK3_uc001vgg.2... Hybrid_Cap...
NF1 p.E244_splice 17 29509524 29509524 OCIAML5_HAEMATO... 37 Splice_Site_SNP SNP A G uc002hgg.2 NF1_uc002hge.1_... Hybrid_Cap... view
NPM1 5 170837734 170837734 OCIAML5_HAEMATO... 37 3'UTR Del T - uc011dex.1 NPM1_uc003mbi.2... Hybrid_Cap...
NPR1 1 153665919 153665920 OCIAML5_HAEMATO... 37 3'UTR Ins - C rs66682713 uc001fcs.3 NPR1_uc010pdz.1... Hybrid_Cap...
NR1H2 p.176_177insQ 19 50881820 50881821 OCIAML5_HAEMATO... 37 In_Frame_Ins Ins - AAC rs66783852;rs112359270 uc010enw.2 NR1H2_uc002prv.... Hybrid_Cap...
OLFM4 p.R51M 13 53603123 53603123 OCIAML5_HAEMATO... 37 Missense_Mutation SNP G T uc001vhl.2 OLFM4_uc001vhk.... Hybrid_Cap... view
PAX3 2 223158653 223158653 OCIAML5_HAEMATO... 37 Intron Del T - rs112753212 uc002vmt.1 PAX3_uc002vmy.1... Hybrid_Cap...
PDE4DIP p.L601fs 1 144915624 144915624 OCIAML5_HAEMATO... 37 Frame_Shift_Del Del G - rs1778112 uc001elw.3 NBPF10_uc009wir... Hybrid_Cap...
PDE4DIP p.E243fs 1 144923729 144923729 OCIAML5_HAEMATO... 37 Frame_Shift_Del Del T - uc001elw.3 NBPF10_uc009wir... Hybrid_Cap...
PGR 11 100933598 100933599 OCIAML5_HAEMATO... 37 Intron Ins - AATGA rs35148438 uc001pgh.2 PGR_uc001pgg.2_... Hybrid_Cap...
PIK3C2G p.P129del 12 18435399 18435401 OCIAML5_HAEMATO... 37 In_Frame_Del Del CCC - uc010sib.1 PIK3C2G_uc001rd... Hybrid_Cap...
PKN2 p.L384del 1 89250482 89250484 OCIAML5_HAEMATO... 37 In_Frame_Del Del TCT - uc001dmn.2 PKN2_uc001dmm.1... Hybrid_Cap...
PMS1 2 190670539 190670540 OCIAML5_HAEMATO... 37 Intron Ins - A rs3214425 uc002urh.3 PMS1_uc010zga.1... Hybrid_Cap...
PRKD3 2 37494796 37494796 OCIAML5_HAEMATO... 37 Intron SNP T C uc002rqd.2 PRKD3_uc002rqe.... Hybrid_Cap... view
PRKDC p.L1244fs 8 48805816 48805817 OCIAML5_HAEMATO... 37 Frame_Shift_Ins Ins - G rs67588121 uc003xqi.2 PRKDC_uc003xqj.... Hybrid_Cap...
PTPN11 p.R265Q 12 112910785 112910785 OCIAML5_HAEMATO... 37 Missense_Mutation SNP G A uc001ttx.2 PTPN11_uc001ttw... Hybrid_Cap... view
RECQL4 p.R766fs 8 145738768 145738768 OCIAML5_HAEMATO... 37 Frame_Shift_Del Del G - uc003zdj.2 Hybrid_Cap...
RPS6KL1 14 75373626 75373627 OCIAML5_HAEMATO... 37 3'UTR Ins - TGAT uc001xqx.1 RPS6KL1_uc001xq... Hybrid_Cap...
RUNX1 p.T148fs 21 36252919 36252920 OCIAML5_HAEMATO... 37 Frame_Shift_Ins Ins - TAGCA uc010gmu.2 RUNX1_uc002yuh.... Hybrid_Cap...
SOS1 p.N233Y 2 39281778 39281778 OCIAML5_HAEMATO... 37 Missense_Mutation SNP T A uc002rrk.3 SOS1_uc010ynr.1... Hybrid_Cap... view
STAT1 2 191840353 191840353 OCIAML5_HAEMATO... 37 Intron Del T - uc002usj.2 STAT1_uc010fse.... Hybrid_Cap...
STK31 7 23872024 23872025 OCIAML5_HAEMATO... 37 3'UTR Ins - TTTG rs66787534 uc003sws.3 STK31_uc003swt.... Hybrid_Cap...
TET2 p.S846* 4 106157573 106157573 OCIAML5_HAEMATO... 37 Nonsense_Mutation SNP C A uc011cez.1 TET2_uc003hxk.2... Hybrid_Cap... view
TMEM123 11 102269398 102269398 OCIAML5_HAEMATO... 37 3'UTR Del G - uc001pha.2 TMEM123_uc009yx... Hybrid_Cap...
TRIM37 p.S270_splice 17 57141768 57141769 OCIAML5_HAEMATO... 37 Splice_Site_Ins Ins - A uc002iwy.3 TRIM37_uc002iwz... Hybrid_Cap...
TRPS1 8 116635872 116635873 OCIAML5_HAEMATO... 37 5'UTR Ins - A rs76893349 uc003yny.2 TRPS1_uc011lhy.... Hybrid_Cap...
TTBK1 p.L318F 6 43225640 43225640 OCIAML5_HAEMATO... 37 Missense_Mutation SNP C T uc003ouq.1 Hybrid_Cap... view
TTN 2 179391639 179391640 OCIAML5_HAEMATO... 37 3'UTR Ins - T rs36037175 uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap...
TTN p.R19461H 2 179447097 179447097 OCIAML5_HAEMATO... 37 Missense_Mutation SNP C T rs72646868 uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
UBE3B 12 109947357 109947358 OCIAML5_HAEMATO... 37 Intron Ins - T uc001top.2 UBE3B_uc001toq.... Hybrid_Cap...
VEGFC p.S419_splice 4 177605082 177605084 OCIAML5_HAEMATO... 37 Splice_Site_Del Del TCA - uc003ius.1 Hybrid_Cap...