Annotation Summary for Cell Line: OCI-AML3  

Cell line primary name: OCI-AML3
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_E02_523588
SNP arrays: AWASH_p_NCLE_DNAAffy10_GenomeWideSNP_6_F11_542836
Oncomap: yes
Hybrid Capture Sequencing: yes


Mutations in OCI-AML3

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 OCIAML3_HAEMATO... 37 In_Frame_Del Del TGT - rs55712143 uc002sfp.2 AAK1_uc010fdk.2... Hybrid_Cap...
ADAM17 2 9630245 9630245 OCIAML3_HAEMATO... 37 3'UTR Del T - uc002qzu.2 IAH1_uc010yiz.1... Hybrid_Cap...
ADAM28 8 24211994 24211997 OCIAML3_HAEMATO... 37 3'UTR Del CTAT - rs10610134 uc003xdy.2 ADAM28_uc011laa... Hybrid_Cap...
ADAM29 p.L691del 4 175898744 175898746 OCIAML3_HAEMATO... 37 In_Frame_Del Del TTA - uc003iuc.2 ADAM29_uc003iud... Hybrid_Cap...
AKAP12 p.1531_1532insE 6 151674116 151674117 OCIAML3_HAEMATO... 37 In_Frame_Ins Ins - GAG rs34737819 uc011eep.1 AKAP12_uc003qoe... Hybrid_Cap...
ALPK2 p.1388_1389FF>F 18 56203253 56203255 OCIAML3_HAEMATO... 37 In_Frame_Del Del AAG - uc002lhj.3 ALPK2_uc002lhk.... Hybrid_Cap...
ARID1A 1 27107398 27107399 OCIAML3_HAEMATO... 37 3'UTR Del TC - uc001bmv.1 ARID1A_uc001bmu... Hybrid_Cap...
ASTN1 p.V1052A 1 176853546 176853546 OCIAML3_HAEMATO... 37 Missense_Mutation SNP A G uc001glc.2 ASTN1_uc001glb.... Hybrid_Cap... view
BCR 22 23631813 23631814 OCIAML3_HAEMATO... 37 Intron Ins - C rs66503844 uc002zww.2 BCR_uc002zwx.2_... Hybrid_Cap...
BCR 22 23632777 23632778 OCIAML3_HAEMATO... 37 Intron Ins - T uc002zww.2 BCR_uc002zwx.2_... Hybrid_Cap...
BRD2 6 32948607 32948608 OCIAML3_HAEMATO... 37 3'UTR Ins - T rs1049414;rs114195059 uc010juh.2 BRD2_uc003ocn.3... Hybrid_Cap...
CACNB2 10 18828721 18828722 OCIAML3_HAEMATO... 37 3'UTR Ins - AA rs3841459 uc001ipr.2 CACNB2_uc009xjz... Hybrid_Cap...
CAMK2A 5 149602223 149602224 OCIAML3_HAEMATO... 37 3'UTR Del AC - uc003lrt.2 CAMK2A_uc003lrs... Hybrid_Cap...
CLTCL1 p.V1201_splice 22 19189003 19189004 OCIAML3_HAEMATO... 37 Splice_Site_Ins Ins - C rs11386977 uc002zpb.2 CLTCL1_uc011agv... Hybrid_Cap...
CRTC1 p.T594S 19 18888020 18888020 OCIAML3_HAEMATO... 37 Missense_Mutation SNP C G uc010ebv.2 CRTC1_uc002nkb.... Hybrid_Cap... view
EIF4E 4 99808137 99808141 OCIAML3_HAEMATO... 37 Intron Del TTAAA - uc011ceb.1 EIF4E_uc011cea.... Hybrid_Cap...
EPHA6 3 97367230 97367231 OCIAML3_HAEMATO... 37 Intron Ins - A rs115253553 uc010how.1 EPHA6_uc003drs.... Hybrid_Cap...
EPHA6 3 97467610 97467611 OCIAML3_HAEMATO... 37 3'UTR Ins - CT uc010how.1 Hybrid_Cap...
ERCC4 p.N893D 16 14042130 14042130 OCIAML3_HAEMATO... 37 Missense_Mutation SNP A G uc002dce.2 ERCC4_uc010uyz.... Hybrid_Cap... view
FANCD2 3 10143086 10143087 OCIAML3_HAEMATO... 37 3'UTR Ins - A uc003bux.1 FANCD2_uc003buy... Hybrid_Cap...
FGFR1OP 6 167453519 167453520 OCIAML3_HAEMATO... 37 3'UTR Ins - T rs115519488 uc003qvj.2 CCR6_uc003qvl.2... Hybrid_Cap...
FGFR3 4 1809128 1809129 OCIAML3_HAEMATO... 37 3'UTR Del GT - uc003gdu.2 FGFR3_uc003gdr.... Hybrid_Cap...
FLI1 11 128638217 128638217 OCIAML3_HAEMATO... 37 Intron Del G - uc010sbu.1 FLI1_uc010sbt.1... Hybrid_Cap...
FN1 2 216244182 216244185 OCIAML3_HAEMATO... 37 Intron Del GTAC - uc002vfa.2 FN1_uc002vfb.2_... Hybrid_Cap...
GPR112 p.D2657del X 135474445 135474447 OCIAML3_HAEMATO... 37 In_Frame_Del Del GAT - rs3030295 uc004ezu.1 GPR112_uc010nsb... Hybrid_Cap...
GRIA3 X 122318386 122318387 OCIAML3_HAEMATO... 37 Splice_Site_Ins Ins - G rs66632982 uc004etq.3 GRIA3_uc004etr.... Hybrid_Cap...
GUCY2C p.V375A 12 14825853 14825853 OCIAML3_HAEMATO... 37 Missense_Mutation SNP A G uc001rcd.2 Hybrid_Cap... view
GUCY2C 12 14827464 14827466 OCIAML3_HAEMATO... 37 Intron Del ATC - rs72525754;rs3083879 uc001rcd.2 GUCY2C_uc009zhz... Hybrid_Cap...
ILK 11 6630029 6630029 OCIAML3_HAEMATO... 37 Intron Del C - uc001mee.2 ILK_uc001mef.2_... Hybrid_Cap...
ITPR2 p.R470_splice 12 26834804 26834805 OCIAML3_HAEMATO... 37 Splice_Site_Ins Ins - ACTC rs66696203;rs59199365 uc001rhg.2 Hybrid_Cap...
KIAA0802 p.A218T 18 8783762 8783762 OCIAML3_HAEMATO... 37 Missense_Mutation SNP G A uc002knr.2 KIAA0802_uc002k... Hybrid_Cap... view
KLK7 19 51480672 51480675 OCIAML3_HAEMATO... 37 3'UTR Del GGTT - uc002puo.2 KLK7_uc002pup.2... Hybrid_Cap...
MAML3 p.Q767_splice 4 140651585 140651587 OCIAML3_HAEMATO... 37 Splice_Site_Del Del CTG - uc003ihz.1 MGST2_uc010ioi.... Hybrid_Cap...
MAP2K1 15 66679649 66679650 OCIAML3_HAEMATO... 37 5'UTR Ins - C rs67229745 uc010bhq.2 Hybrid_Cap...
MAP3K1 p.T949del 5 56177849 56177851 OCIAML3_HAEMATO... 37 In_Frame_Del Del CAA - uc003jqw.3 Hybrid_Cap...
MAP3K14 p.R218_splice 17 43364293 43364294 OCIAML3_HAEMATO... 37 Splice_Site_Ins Ins - G rs66766023 uc002iiw.1 MAP3K14_uc010da... Hybrid_Cap...
MAPKAPK3 3 50685575 50685575 OCIAML3_HAEMATO... 37 3'UTR Del A - rs76026164 uc003day.1 MAPKAPK3_uc003d... Hybrid_Cap...
MAPKBP1 15 42111753 42111754 OCIAML3_HAEMATO... 37 Intron Ins - C rs3034891 uc001zok.3 MAPKBP1_uc001zo... Hybrid_Cap...
MYST4 10 76790936 76790936 OCIAML3_HAEMATO... 37 3'UTR Del A - uc001jwn.1 MYST4_uc001jwo.... Hybrid_Cap...
NCAM1 11 112832307 112832308 OCIAML3_HAEMATO... 37 5'UTR Ins - A rs117108942 uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCAM1 11 112832340 112832340 OCIAML3_HAEMATO... 37 5'UTR Del C - uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NPM1 p.L287fs 5 170837543 170837544 OCIAML3_HAEMATO... 37 Frame_Shift_Ins Ins - TCTG rs17850940 uc011dex.1 NPM1_uc003mbi.2... Hybrid_Cap...
NPR1 1 153665919 153665920 OCIAML3_HAEMATO... 37 3'UTR Ins - C rs66682713 uc001fcs.3 NPR1_uc010pdz.1... Hybrid_Cap...
NR1H2 p.176_177insQ 19 50881822 50881823 OCIAML3_HAEMATO... 37 In_Frame_Ins Ins - CAG rs61751954;rs1052533 uc010enw.2 NR1H2_uc002prv.... Hybrid_Cap...
NRAS p.Q61L 1 115256529 115256529 OCIAML3_HAEMATO... 37 Missense_Mutation SNP T A rs11554290 uc009wgu.2 Hybrid_Cap... view
PAX3 2 223158653 223158653 OCIAML3_HAEMATO... 37 Intron Del T - rs112753212 uc002vmt.1 PAX3_uc002vmy.1... Hybrid_Cap...
PDE4DIP 1 144852294 144852294 OCIAML3_HAEMATO... 37 3'UTR SNP T A uc001elw.3 NBPF10_uc009wir... Hybrid_Cap... view
PIP4K2A 10 22825887 22825887 OCIAML3_HAEMATO... 37 3'UTR Del C - uc001irl.3 PIP4K2A_uc010qc... Hybrid_Cap...
PPP3R1 p.F15_splice 2 68415824 68415824 OCIAML3_HAEMATO... 37 Splice_Site_SNP SNP T A uc002sei.1 Hybrid_Cap... view
PRCC p.P320H 1 156756842 156756842 OCIAML3_HAEMATO... 37 Missense_Mutation SNP C A uc001fqa.2 PRCC_uc001fqb.2... Hybrid_Cap... view
PRKDC p.L1244fs 8 48805816 48805817 OCIAML3_HAEMATO... 37 Frame_Shift_Ins Ins - G rs67588121 uc003xqi.2 PRKDC_uc003xqj.... Hybrid_Cap...
RANBP17 p.A721V 5 170632547 170632547 OCIAML3_HAEMATO... 37 Missense_Mutation SNP C T uc003mba.2 RANBP17_uc003mb... Hybrid_Cap... view
RASGRF1 15 79277150 79277151 OCIAML3_HAEMATO... 37 Intron Ins - C rs67045840;rs77640668 uc002beq.2 RASGRF1_uc002be... Hybrid_Cap...
RECQL4 p.R766fs 8 145738768 145738768 OCIAML3_HAEMATO... 37 Frame_Shift_Del Del G - uc003zdj.2 Hybrid_Cap...
RPGRIP1 p.A635G 14 21792918 21792918 OCIAML3_HAEMATO... 37 Missense_Mutation SNP C G uc001wag.2 RPGRIP1_uc001wa... Hybrid_Cap... view
RPS6KL1 14 75377826 75377826 OCIAML3_HAEMATO... 37 Intron SNP C T uc010tux.1 RPS6KL1_uc001xq... Hybrid_Cap... view
SEPT9 17 75494787 75494788 OCIAML3_HAEMATO... 37 3'UTR Ins - C rs5822173 uc002jts.3 SEPT9_uc010wtk.... Hybrid_Cap...
SKP2 p.Q387R 5 36182018 36182018 OCIAML3_HAEMATO... 37 Missense_Mutation SNP A G uc003jkc.1 SKP2_uc011cou.1... Hybrid_Cap... view
STK25 2 242435659 242435662 OCIAML3_HAEMATO... 37 Intron Del AAGG - rs3215138;rs75497042 uc002wbm.2 STK25_uc002wbk.... Hybrid_Cap...
STK31 7 23872024 23872025 OCIAML3_HAEMATO... 37 3'UTR Ins - TTTG rs66787534 uc003sws.3 STK31_uc003swt.... Hybrid_Cap...
TAOK2 p.R1043Q 16 29998700 29998700 OCIAML3_HAEMATO... 37 Missense_Mutation SNP G A uc010bzm.1 BOLA2_uc010bzb.... Hybrid_Cap... view
TEC 4 48139307 48139310 OCIAML3_HAEMATO... 37 3'UTR Del TTAT - rs79098351 uc003gxz.2 Hybrid_Cap...
TET1 p.P828S 10 70404968 70404968 OCIAML3_HAEMATO... 37 Missense_Mutation SNP C T uc001jok.3 Hybrid_Cap... view
TTN 2 179391639 179391640 OCIAML3_HAEMATO... 37 3'UTR Ins - T rs36037175 uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap...
TTN p.V20310M 2 179442521 179442521 OCIAML3_HAEMATO... 37 Missense_Mutation SNP C T uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
VEGFC p.S419_splice 4 177605082 177605084 OCIAML3_HAEMATO... 37 Splice_Site_Del Del TCA - uc003ius.1 Hybrid_Cap...
WNK3 p.I1207V X 54275162 54275162 OCIAML3_HAEMATO... 37 Missense_Mutation SNP T C uc004dtc.1 WNK3_uc004dtd.1... Hybrid_Cap... view
XPC p.P455A 3 14200020 14200020 OCIAML3_HAEMATO... 37 Missense_Mutation SNP G C uc011ave.1 XPC_uc011avf.1_... Hybrid_Cap... view
XPC p.G64E 3 14214475 14214475 OCIAML3_HAEMATO... 37 Missense_Mutation SNP C T uc011ave.1 XPC_uc011avf.1_... Hybrid_Cap... view