Annotation Summary for Cell Line: OCI-AML2  

Cell line primary name: OCI-AML2
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_G07_523548
SNP arrays: MISTS_p_NCLE_DNAAffy11_GenomeWideSNP_6_B10_578298
Oncomap: yes
Hybrid Capture Sequencing: yes


Mutations in OCI-AML2

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 OCIAML2_HAEMATO... 37 3'UTR Del T - uc002qzu.2 IAH1_uc010yiz.1... Hybrid_Cap...
ADAM28 8 24211994 24211997 OCIAML2_HAEMATO... 37 3'UTR Del CTAT - rs10610134 uc003xdy.2 ADAM28_uc011laa... Hybrid_Cap...
ALPK2 p.1388_1389FF>F 18 56203253 56203255 OCIAML2_HAEMATO... 37 In_Frame_Del Del AAG - uc002lhj.3 ALPK2_uc002lhk.... Hybrid_Cap...
ASPH 8 62602296 62602296 OCIAML2_HAEMATO... 37 Intron Del A - uc003xuj.2 ASPH_uc011leg.1... Hybrid_Cap...
BIRC6 2 32843085 32843085 OCIAML2_HAEMATO... 37 3'UTR SNP T C uc010ezu.2 Hybrid_Cap... view
BTG1 12 92537706 92537707 OCIAML2_HAEMATO... 37 3'UTR Ins - T rs33983967 uc001tby.3 BTG1_uc001tbv.1... Hybrid_Cap...
CDC42BPA p.Q1324E 1 227216715 227216715 OCIAML2_HAEMATO... 37 Missense_Mutation SNP G C uc001hqr.2 CDC42BPA_uc001h... Hybrid_Cap... view
CDK18 1 205500767 205500768 OCIAML2_HAEMATO... 37 3'UTR Ins - A uc001hcr.2 CDK18_uc001hcp.... Hybrid_Cap...
CHL1 3 361364 361364 OCIAML2_HAEMATO... 37 Splice_Site_SNP SNP A T uc003bot.2 CHL1_uc003bou.2... Hybrid_Cap... view
CLTCL1 p.V1201_splice 22 19189003 19189004 OCIAML2_HAEMATO... 37 Splice_Site_Ins Ins - C rs11386977 uc002zpb.2 CLTCL1_uc011agv... Hybrid_Cap...
CREB3L2 p.T100del 7 137612914 137612916 OCIAML2_HAEMATO... 37 In_Frame_Del Del TGG - uc003vtw.2 CREB3L2_uc003vt... Hybrid_Cap...
DCLK3 3 36756662 36756663 OCIAML2_HAEMATO... 37 3'UTR Del TT - uc003cgi.2 Hybrid_Cap...
DNAH8 p.G1814V 6 38828366 38828366 OCIAML2_HAEMATO... 37 Missense_Mutation SNP G T uc003ooe.1 Hybrid_Cap... view
DST 6 56484747 56484747 OCIAML2_HAEMATO... 37 Intron SNP T C uc003pdf.2 DST_uc003pcz.3_... Hybrid_Cap... view
FANCA p.E1451K 16 89805026 89805026 OCIAML2_HAEMATO... 37 Missense_Mutation SNP C T uc002fou.1 ZNF276_uc010ciq... Hybrid_Cap... view
FGFR1OP 6 167453519 167453520 OCIAML2_HAEMATO... 37 3'UTR Ins - T rs115519488 uc003qvj.2 CCR6_uc003qvl.2... Hybrid_Cap...
FLCN 17 17116745 17116745 OCIAML2_HAEMATO... 37 3'UTR SNP C T uc002gra.3 PLD6_uc010cpn.2... Hybrid_Cap... view
FLCN p.N184K 17 17127302 17127302 OCIAML2_HAEMATO... 37 Missense_Mutation SNP G T uc002gra.3 PLD6_uc010cpn.2... Hybrid_Cap... view
FLI1 11 128638217 128638217 OCIAML2_HAEMATO... 37 Intron Del G - uc010sbu.1 FLI1_uc010sbt.1... Hybrid_Cap...
FLT3 p.A680V 13 28602329 28602329 OCIAML2_HAEMATO... 37 Missense_Mutation SNP G A uc001urw.2 FLT3_uc010aao.2... Hybrid_Cap... view
FN1 2 216244182 216244185 OCIAML2_HAEMATO... 37 Intron Del GTAC - uc002vfa.2 FN1_uc002vfb.2_... Hybrid_Cap...
GRIA3 X 122318386 122318387 OCIAML2_HAEMATO... 37 Splice_Site_Ins Ins - G rs66632982 uc004etq.3 GRIA3_uc004etr.... Hybrid_Cap...
GUCY2C 12 14827464 14827466 OCIAML2_HAEMATO... 37 Intron Del ATC - rs72525754;rs3083879 uc001rcd.2 GUCY2C_uc009zhz... Hybrid_Cap...
HCK p.V136I 20 30662502 30662502 OCIAML2_HAEMATO... 37 Missense_Mutation SNP G A uc002wxh.2 HCK_uc010gdy.2_... Hybrid_Cap... view
HNF1A 12 121434630 121434631 OCIAML2_HAEMATO... 37 Intron Ins - TCATTCAT rs75100977 uc010szn.1 HNF1A_uc001tze.... Hybrid_Cap...
ILK 11 6630029 6630029 OCIAML2_HAEMATO... 37 Intron Del C - uc001mee.2 ILK_uc001mef.2_... Hybrid_Cap...
ITGAV p.R333H 2 187506154 187506154 OCIAML2_HAEMATO... 37 Missense_Mutation SNP G A uc002upq.2 ITGAV_uc010frs.... Hybrid_Cap... view
ITPR2 p.R470_splice 12 26834804 26834805 OCIAML2_HAEMATO... 37 Splice_Site_Ins Ins - ACTC rs66696203;rs59199365 uc001rhg.2 Hybrid_Cap...
LRP1B p.K3585Q 2 141130592 141130592 OCIAML2_HAEMATO... 37 Missense_Mutation SNP T G uc002tvj.1 Hybrid_Cap... view
LRRK1 p.N375S 15 101550885 101550885 OCIAML2_HAEMATO... 37 Missense_Mutation SNP A G uc002bwr.2 LRRK1_uc010usb.... Hybrid_Cap... view
MAF 16 79628537 79628537 OCIAML2_HAEMATO... 37 Intron Del T - uc002ffm.2 MAF_uc002ffn.2_... Hybrid_Cap...
MAML3 p.Q767_splice 4 140651585 140651587 OCIAML2_HAEMATO... 37 Splice_Site_Del Del CTG - uc003ihz.1 MGST2_uc010ioi.... Hybrid_Cap...
MAP3K1 p.T949del 5 56177849 56177851 OCIAML2_HAEMATO... 37 In_Frame_Del Del CAA - uc003jqw.3 Hybrid_Cap...
MAP3K14 p.R218_splice 17 43364293 43364294 OCIAML2_HAEMATO... 37 Splice_Site_Ins Ins - G rs66766023 uc002iiw.1 MAP3K14_uc010da... Hybrid_Cap...
MAPK14 6 36076345 36076354 OCIAML2_HAEMATO... 37 3'UTR Del GTGTG... - rs80147786 uc003olp.2 MAPK14_uc003olq... Hybrid_Cap...
MAPKAPK3 3 50685575 50685575 OCIAML2_HAEMATO... 37 3'UTR Del A - rs76026164 uc003day.1 MAPKAPK3_uc003d... Hybrid_Cap...
MLL p.K1751* 11 118365075 118365075 OCIAML2_HAEMATO... 37 Nonsense_Mutation SNP A T uc001ptb.2 MLL_uc001pta.2_... Hybrid_Cap... view
NCAM1 11 112832307 112832308 OCIAML2_HAEMATO... 37 5'UTR Ins - A rs117108942 uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCAM1 11 112832340 112832340 OCIAML2_HAEMATO... 37 5'UTR Del C - uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NEK3 p.K313_splice 13 52718050 52718051 OCIAML2_HAEMATO... 37 Splice_Site_Ins Ins - T rs72514762 uc001vgh.2 NEK3_uc001vgg.2... Hybrid_Cap...
NLRP3 1 247611982 247611982 OCIAML2_HAEMATO... 37 3'UTR Del C - uc001icr.2 NLRP3_uc001ics.... Hybrid_Cap...
NR1H2 p.176_177insQ 19 50881820 50881821 OCIAML2_HAEMATO... 37 In_Frame_Ins Ins - AAC rs66783852;rs112359270 uc010enw.2 NR1H2_uc002prv.... Hybrid_Cap...
NUP214 9 134067556 134067557 OCIAML2_HAEMATO... 37 Intron Ins - T rs66652901 uc004cag.2 NUP214_uc004cah... Hybrid_Cap...
PAX3 2 223158653 223158653 OCIAML2_HAEMATO... 37 Intron Del T - rs112753212 uc002vmt.1 PAX3_uc002vmy.1... Hybrid_Cap...
PAX5 9 37034095 37034095 OCIAML2_HAEMATO... 37 5'UTR Del C - uc003zzo.1 PAX5_uc011lpw.1... Hybrid_Cap...
PGGT1B 5 114548071 114548072 OCIAML2_HAEMATO... 37 3'UTR Ins - C uc003kqw.3 PGGT1B_uc003kqx... Hybrid_Cap...
PIK3C2G p.P129del 12 18435399 18435401 OCIAML2_HAEMATO... 37 In_Frame_Del Del CCC - uc010sib.1 PIK3C2G_uc001rd... Hybrid_Cap...
PKHD1 p.D3540G 6 51524305 51524305 OCIAML2_HAEMATO... 37 Missense_Mutation SNP T C uc003pah.1 Hybrid_Cap... view
PLCG2 p.E165K 16 81902832 81902832 OCIAML2_HAEMATO... 37 Missense_Mutation SNP G A uc002fgt.2 PLCG2_uc010chg.... Hybrid_Cap... view
PRKAA2 p.I32_splice 1 57140052 57140052 OCIAML2_HAEMATO... 37 Splice_Site_SNP SNP A T uc001cyk.3 Hybrid_Cap... view
PRKD2 p.T485I 19 47197254 47197254 OCIAML2_HAEMATO... 37 Missense_Mutation SNP G A uc010xye.1 PRKD2_uc010ekt.... Hybrid_Cap... view
PRKDC p.L1244fs 8 48805816 48805817 OCIAML2_HAEMATO... 37 Frame_Shift_Ins Ins - G rs67588121 uc003xqi.2 PRKDC_uc003xqj.... Hybrid_Cap...
RNASEL p.P85L 1 182555688 182555688 OCIAML2_HAEMATO... 37 Missense_Mutation SNP G A uc001gpj.1 RNASEL_uc009wxz... Hybrid_Cap... view
RPS6KA5 14 91360733 91360734 OCIAML2_HAEMATO... 37 Intron Ins - T rs77438853 uc001xys.2 RPS6KA5_uc010tw... Hybrid_Cap...
RPS6KB1 17 58024224 58024225 OCIAML2_HAEMATO... 37 3'UTR Ins - AA rs67846207 uc002ixy.2 RPS6KB1_uc010dd... Hybrid_Cap...
RPS6KL1 14 75373626 75373627 OCIAML2_HAEMATO... 37 3'UTR Ins - TGAT uc001xqx.1 RPS6KL1_uc001xq... Hybrid_Cap...
RUNX2 6 45390219 45390219 OCIAML2_HAEMATO... 37 Intron SNP C T uc011dvx.1 RUNX2_uc011dvy.... Hybrid_Cap... view
SACS p.V3345I 13 23907982 23907982 OCIAML2_HAEMATO... 37 Missense_Mutation SNP C T uc001uon.2 SACS_uc001uoo.2... Hybrid_Cap... view
SEPT5 22 19709594 19709595 OCIAML2_HAEMATO... 37 Intron Ins - C rs71186626 uc002zpv.1 SEPT5_uc002zpw.... Hybrid_Cap...
SETDB1 p.P5S 1 150900203 150900203 OCIAML2_HAEMATO... 37 Missense_Mutation SNP C T uc001evu.2 SETDB1_uc009wmf... Hybrid_Cap... view
SPEN p.T2892fs 1 16261409 16261410 OCIAML2_HAEMATO... 37 Frame_Shift_Del Del AC - uc001axk.1 SPEN_uc010obp.1... Hybrid_Cap...
SPEN p.K1600* 1 16257533 16257533 OCIAML2_HAEMATO... 37 Nonsense_Mutation SNP A T uc001axk.1 SPEN_uc010obp.1... Hybrid_Cap... view
STK31 7 23872024 23872025 OCIAML2_HAEMATO... 37 3'UTR Ins - TTTG rs66787534 uc003sws.3 STK31_uc003swt.... Hybrid_Cap...
TCF3 19 1611608 1611608 OCIAML2_HAEMATO... 37 3'UTR SNP A G uc002ltq.2 TCF3_uc002ltn.2... Hybrid_Cap... view
TEC 4 48139307 48139310 OCIAML2_HAEMATO... 37 3'UTR Del TTAT - rs79098351 uc003gxz.2 Hybrid_Cap...
TMEM123 11 102269398 102269398 OCIAML2_HAEMATO... 37 3'UTR Del G - uc001pha.2 TMEM123_uc009yx... Hybrid_Cap...
TNRC6B p.N817K 22 40662685 40662685 OCIAML2_HAEMATO... 37 Missense_Mutation SNP T A uc011aor.1 TNRC6B_uc003aym... Hybrid_Cap... view
TRIM67 p.D461A 1 231337111 231337111 OCIAML2_HAEMATO... 37 Missense_Mutation SNP A C uc009xfn.1 Hybrid_Cap... view
TRPS1 8 116635872 116635873 OCIAML2_HAEMATO... 37 5'UTR Ins - A rs76893349 uc003yny.2 TRPS1_uc011lhy.... Hybrid_Cap...
VEGFC p.S419_splice 4 177605082 177605084 OCIAML2_HAEMATO... 37 Splice_Site_Del Del TCA - uc003ius.1 Hybrid_Cap...
WNK1 p.T1063I 12 990934 990934 OCIAML2_HAEMATO... 37 Missense_Mutation SNP C T uc001qio.3 WNK1_uc001qip.3... Hybrid_Cap... view