Annotation Summary for Cell Line: KO52  

Cell line primary name: KO52
Cell line aliases: K052
Gender: M
Site Primary: haematopoietic_and_lymphoid_tissue
Histology: haematopoietic_neoplasm
Hist Subtype1: acute_myeloid_leukaemia
Notes:
Source: HSRRB
Expression arrays: BUNDS_p_NCLE_RNA5_HG-U133_Plus_2_B07_419852
SNP arrays: FIEFS_p_NCLE_DNA_Affy5_GenomeWideSNP_6_H07_410920
Oncomap: yes
Hybrid Capture Sequencing: yes


Mutations in KO52

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 KO52_HAEMATOPOI... 37 In_Frame_Del Del TGT - rs55712143 uc002sfp.2 AAK1_uc010fdk.2... Hybrid_Cap...
ABCC3 17 48745203 48745203 KO52_HAEMATOPOI... 37 Intron Del C - uc002isl.2 ABCC3_uc002isk.... Hybrid_Cap...
ABL2 1 179086419 179086420 KO52_HAEMATOPOI... 37 Intron Ins - A rs72207641 uc001gmj.3 ABL2_uc010pnf.1... Hybrid_Cap...
ADAM28 8 24211994 24211997 KO52_HAEMATOPOI... 37 3'UTR Del CTAT - rs10610134 uc003xdy.2 ADAM28_uc011laa... Hybrid_Cap...
AKAP12 p.1531_1532insE 6 151674116 151674117 KO52_HAEMATOPOI... 37 In_Frame_Ins Ins - GAG rs34737819 uc011eep.1 AKAP12_uc003qoe... Hybrid_Cap...
ALPK1 4 113347609 113347610 KO52_HAEMATOPOI... 37 Intron Ins - T rs68137453 uc003iap.3 ALPK1_uc003ian.... Hybrid_Cap...
ALPK3 p.R733Q 15 85384102 85384102 KO52_HAEMATOPOI... 37 Missense_Mutation SNP G A uc002ble.2 Hybrid_Cap... view
ASH2L p.P18L 8 37963121 37963121 KO52_HAEMATOPOI... 37 Missense_Mutation SNP C T uc003xkt.3 ASH2L_uc011lbk.... Hybrid_Cap... view
ASPH p.A264_splice 8 62550924 62550925 KO52_HAEMATOPOI... 37 Splice_Site_Ins Ins - A rs5891816 uc003xuj.2 ASPH_uc011leg.1... Hybrid_Cap...
AURKC 19 57742531 57742532 KO52_HAEMATOPOI... 37 5'UTR Ins - C uc002qoe.2 AURKC_uc002qoc.... Hybrid_Cap...
CACNB2 10 18828721 18828722 KO52_HAEMATOPOI... 37 3'UTR Ins - AA rs3841459 uc001ipr.2 CACNB2_uc009xjz... Hybrid_Cap...
CDK11B 1 1654066 1654068 KO52_HAEMATOPOI... 37 Intron Del GCG - uc001agv.1 CDK11B_uc001aha... Hybrid_Cap...
CEBPA p.L324P 19 33792350 33792350 KO52_HAEMATOPOI... 37 Missense_Mutation SNP A G uc002nun.2 LOC80054_uc002n... Hybrid_Cap... view
CLTCL1 p.V1201_splice 22 19189003 19189004 KO52_HAEMATOPOI... 37 Splice_Site_Ins Ins - C rs11386977 uc002zpb.2 CLTCL1_uc011agv... Hybrid_Cap...
CPAMD8 p.R284W 19 17113125 17113125 KO52_HAEMATOPOI... 37 Missense_Mutation SNP G A uc002nfb.2 Hybrid_Cap... view
CTBP2 p.K974fs 10 126678123 126678123 KO52_HAEMATOPOI... 37 Frame_Shift_Del Del T - uc001lie.3 CTBP2_uc009yak.... Hybrid_Cap...
CTSL2 9 99798642 99798642 KO52_HAEMATOPOI... 37 Intron SNP C T uc004awt.2 CTSL2_uc010msi.... Hybrid_Cap... view
CXCL12 10 44873992 44873993 KO52_HAEMATOPOI... 37 Intron Ins - CT rs117617571 uc001jbh.2 CXCL12_uc001jbf... Hybrid_Cap...
DGKB 7 14216330 14216332 KO52_HAEMATOPOI... 37 Intron Del AAC - uc003ssz.2 DGKB_uc011jxt.1... Hybrid_Cap...
EIF4G1 3 184038651 184038651 KO52_HAEMATOPOI... 37 Intron SNP G A uc010hxx.2 EIF4G1_uc003fno... Hybrid_Cap... view
EPHA6 p.R766P 3 97251298 97251298 KO52_HAEMATOPOI... 37 Missense_Mutation SNP G C uc010how.1 EPHA6_uc011bgo.... Hybrid_Cap... view
EPHA6 3 97367230 97367231 KO52_HAEMATOPOI... 37 Intron Ins - A rs115253553 uc010how.1 EPHA6_uc003drs.... Hybrid_Cap...
ETV1 7 14028708 14028708 KO52_HAEMATOPOI... 37 5'UTR Del A - rs77190713 uc011jxq.1 ETV1_uc011jxn.1... Hybrid_Cap...
FLI1 11 128638217 128638217 KO52_HAEMATOPOI... 37 Intron Del G - uc010sbu.1 FLI1_uc010sbt.1... Hybrid_Cap...
FLT4 5 180035183 180035185 KO52_HAEMATOPOI... 37 Intron Del AGT - uc003mlz.3 FLT4_uc003mma.3... Hybrid_Cap...
FMO4 p.R223H 1 171301888 171301888 KO52_HAEMATOPOI... 37 Missense_Mutation SNP G A uc001gho.2 Hybrid_Cap... view
FN1 2 216244182 216244185 KO52_HAEMATOPOI... 37 Intron Del GTAC - uc002vfa.2 FN1_uc002vfb.2_... Hybrid_Cap...
FOXP1 3 71008341 71008342 KO52_HAEMATOPOI... 37 3'UTR Ins - T rs11433724;rs114233617 uc003dol.2 FOXP1_uc003dom.... Hybrid_Cap...
GPR112 p.D2657del X 135474445 135474447 KO52_HAEMATOPOI... 37 In_Frame_Del Del GAT - rs3030295 uc004ezu.1 GPR112_uc010nsb... Hybrid_Cap...
GRIA3 X 122318386 122318387 KO52_HAEMATOPOI... 37 Splice_Site_Ins Ins - G rs66632982 uc004etq.3 GRIA3_uc004etr.... Hybrid_Cap...
GUCY2C 12 14827464 14827466 KO52_HAEMATOPOI... 37 Intron Del ATC - rs72525754;rs3083879 uc001rcd.2 GUCY2C_uc009zhz... Hybrid_Cap...
HIF1A 14 62213929 62213930 KO52_HAEMATOPOI... 37 3'UTR Ins - T rs67890419 uc001xfs.2 HIF1A_uc001xfq.... Hybrid_Cap...
HNF1A 12 121434630 121434631 KO52_HAEMATOPOI... 37 Intron Ins - TCATTCAT rs75100977 uc010szn.1 HNF1A_uc001tze.... Hybrid_Cap...
ILK 11 6630029 6630029 KO52_HAEMATOPOI... 37 Intron Del C - uc001mee.2 ILK_uc001mef.2_... Hybrid_Cap...
IRAK4 p.S169L 12 44166730 44166730 KO52_HAEMATOPOI... 37 Missense_Mutation SNP C T uc001rnu.3 IRAK4_uc001rnt.... Hybrid_Cap... view
ITGB1 10 33197131 33197134 KO52_HAEMATOPOI... 37 Intron Del CTTT - rs116966876 uc001iwq.3 ITGB1_uc001iwp.... Hybrid_Cap...
ITPR2 p.R470_splice 12 26834804 26834805 KO52_HAEMATOPOI... 37 Splice_Site_Ins Ins - ACTC rs66696203;rs59199365 uc001rhg.2 Hybrid_Cap...
KIAA1549 p.L493V 7 138602895 138602895 KO52_HAEMATOPOI... 37 Missense_Mutation SNP G C uc011kql.1 KIAA1549_uc003v... Hybrid_Cap... view
KLK7 19 51480672 51480675 KO52_HAEMATOPOI... 37 3'UTR Del GGTT - uc002puo.2 KLK7_uc002pup.2... Hybrid_Cap...
LAMP1 p.V285I 13 113974762 113974762 KO52_HAEMATOPOI... 37 Missense_Mutation SNP G A uc001vtm.1 LAMP1_uc010tka.... Hybrid_Cap... view
LATS2 13 21620222 21620223 KO52_HAEMATOPOI... 37 5'UTR Ins - A rs61240127;rs115723063 uc009zzs.2 LATS2_uc001unr.... Hybrid_Cap...
MAML3 p.Q767_splice 4 140651585 140651587 KO52_HAEMATOPOI... 37 Splice_Site_Del Del CTG - uc003ihz.1 MGST2_uc010ioi.... Hybrid_Cap...
MAP3K10 p.P503S 19 40715081 40715081 KO52_HAEMATOPOI... 37 Missense_Mutation SNP C T uc002ona.2 MAP3K10_uc002on... Hybrid_Cap... view
MAP3K14 p.R218_splice 17 43364293 43364294 KO52_HAEMATOPOI... 37 Splice_Site_Ins Ins - G rs66766023 uc002iiw.1 MAP3K14_uc010da... Hybrid_Cap...
MAP3K5 6 136878752 136878752 KO52_HAEMATOPOI... 37 3'UTR Del T - rs79903899 uc003qhc.2 MAP3K5_uc011edj... Hybrid_Cap...
MAP3K5 p.I276V 6 137018506 137018506 KO52_HAEMATOPOI... 37 Missense_Mutation SNP T C uc003qhc.2 MAP3K5_uc011edk... Hybrid_Cap... view
MCL1 1 150552045 150552045 KO52_HAEMATOPOI... 37 5'UTR SNP A T uc001euz.2 MCL1_uc010pch.1... Hybrid_Cap... view
MECOM 3 169381200 169381201 KO52_HAEMATOPOI... 37 5'UTR Ins - T uc011bpj.1 MECOM_uc011bpk.... Hybrid_Cap...
MLL3 p.Y816fs 7 151945071 151945072 KO52_HAEMATOPOI... 37 Frame_Shift_Ins Ins - T uc003wla.2 Hybrid_Cap...
MSH6 p.A1050T 2 48028270 48028270 KO52_HAEMATOPOI... 37 Missense_Mutation SNP G A uc002rwd.3 MSH6_uc002rwc.2... Hybrid_Cap... view
MYH11 16 15808595 15808595 KO52_HAEMATOPOI... 37 Intron SNP T A uc002ddx.2 MYH11_uc002ddv.... Hybrid_Cap... view
MYO18B p.I2329M 22 26422927 26422927 KO52_HAEMATOPOI... 37 Missense_Mutation SNP C G uc003abz.1 MYO18B_uc003aca... Hybrid_Cap... view
NCAM1 11 112832307 112832308 KO52_HAEMATOPOI... 37 5'UTR Ins - A rs117108942 uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCAM1 11 112832340 112832340 KO52_HAEMATOPOI... 37 5'UTR Del C - uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCOA3 p.1276_1277insQ 20 46279860 46279861 KO52_HAEMATOPOI... 37 In_Frame_Ins Ins - CAA uc002xtk.2 NCOA3_uc010ght.... Hybrid_Cap...
NEK3 p.K313_splice 13 52718050 52718051 KO52_HAEMATOPOI... 37 Splice_Site_Ins Ins - T rs72514762 uc001vgh.2 NEK3_uc001vgg.2... Hybrid_Cap...
NFIA 1 61921185 61921186 KO52_HAEMATOPOI... 37 3'UTR Ins - T rs57270124;rs76131997 uc010oos.1 NFIA_uc001czy.2... Hybrid_Cap...
NIN p.D671V 14 51226962 51226962 KO52_HAEMATOPOI... 37 Missense_Mutation SNP T A uc001wyi.2 NIN_uc001wyj.2_... Hybrid_Cap... view
NPM1 5 170837734 170837734 KO52_HAEMATOPOI... 37 3'UTR Del T - uc011dex.1 NPM1_uc003mbi.2... Hybrid_Cap...
NPR1 1 153665919 153665920 KO52_HAEMATOPOI... 37 3'UTR Ins - C rs66682713 uc001fcs.3 NPR1_uc010pdz.1... Hybrid_Cap...
NR1H2 p.176_177insQ 19 50881820 50881821 KO52_HAEMATOPOI... 37 In_Frame_Ins Ins - AAC rs66783852;rs112359270 uc010enw.2 NR1H2_uc002prv.... Hybrid_Cap...
NRAS p.G13R 1 115258745 115258745 KO52_HAEMATOPOI... 37 Missense_Mutation SNP C G rs121434595 uc009wgu.2 Hybrid_Cap... view
NRBP2 8 144917801 144917801 KO52_HAEMATOPOI... 37 3'UTR SNP C T uc011lkt.1 NRBP2_uc003yzv.... Hybrid_Cap... view
PAX3 2 223066017 223066018 KO52_HAEMATOPOI... 37 Intron Ins - C rs115619343 uc002vmt.1 PAX3_uc002vmy.1... Hybrid_Cap...
PAX3 2 223158653 223158653 KO52_HAEMATOPOI... 37 Intron Del T - rs112753212 uc002vmt.1 PAX3_uc002vmy.1... Hybrid_Cap...
PAXIP1 7 154775066 154775066 KO52_HAEMATOPOI... 37 Intron SNP C T uc003wlp.2 PAXIP1_uc003wlq... Hybrid_Cap... view
PCDH15 p.I1540M 10 55582887 55582887 KO52_HAEMATOPOI... 37 Missense_Mutation SNP T C uc010qhy.1 PCDH15_uc010qhq... Hybrid_Cap... view
PDE4DIP p.L601fs 1 144915624 144915624 KO52_HAEMATOPOI... 37 Frame_Shift_Del Del G - rs1778112 uc001elw.3 NBPF10_uc009wir... Hybrid_Cap...
PDE4DIP p.E243fs 1 144923729 144923729 KO52_HAEMATOPOI... 37 Frame_Shift_Del Del T - uc001elw.3 NBPF10_uc009wir... Hybrid_Cap...
PGR 11 100933598 100933599 KO52_HAEMATOPOI... 37 Intron Ins - AATGA rs35148438 uc001pgh.2 PGR_uc001pgg.2_... Hybrid_Cap...
PHIP 6 79650265 79650266 KO52_HAEMATOPOI... 37 3'UTR Ins - TT rs70977753;rs13191571 uc003pir.2 PHIP_uc003piq.2... Hybrid_Cap...
PIK3C2A 11 17111198 17111199 KO52_HAEMATOPOI... 37 3'UTR Del GT - uc001mmq.3 PIK3C2A_uc009yg... Hybrid_Cap...
PIK3C2G p.P129del 12 18435399 18435401 KO52_HAEMATOPOI... 37 In_Frame_Del Del CCC - uc010sib.1 PIK3C2G_uc001rd... Hybrid_Cap...
PRCC p.L229F 1 156756568 156756568 KO52_HAEMATOPOI... 37 Missense_Mutation SNP C T uc001fqa.2 PRCC_uc001fqb.2... Hybrid_Cap... view
PRKDC p.L1244fs 8 48805816 48805817 KO52_HAEMATOPOI... 37 Frame_Shift_Ins Ins - G rs67588121 uc003xqi.2 PRKDC_uc003xqj.... Hybrid_Cap...
RECQL4 p.R766fs 8 145738768 145738768 KO52_HAEMATOPOI... 37 Frame_Shift_Del Del G - uc003zdj.2 Hybrid_Cap...
RHOA 3 49397568 49397569 KO52_HAEMATOPOI... 37 3'UTR Ins - A rs8179163;rs74809549 uc003cwu.2 RHOA_uc010hku.2... Hybrid_Cap...
RXRA 9 137328489 137328489 KO52_HAEMATOPOI... 37 3'UTR SNP C T rs35678595 uc004cfb.2 RXRA_uc004cfc.1... Hybrid_Cap... view
SMG1 p.M2481L 16 18848738 18848738 KO52_HAEMATOPOI... 37 Missense_Mutation SNP T G uc002dfm.2 SMG1_uc010bwb.2... Hybrid_Cap... view
SP140 p.G506A 2 231149079 231149079 KO52_HAEMATOPOI... 37 Missense_Mutation SNP G C uc002vql.2 SP140_uc010zma.... Hybrid_Cap... view
STRADA 17 61780872 61780872 KO52_HAEMATOPOI... 37 3'UTR SNP G A uc002jbm.2 LIMD2_uc002jbl.... Hybrid_Cap... view
TBCK p.H50Q 4 107229968 107229968 KO52_HAEMATOPOI... 37 Missense_Mutation SNP A T uc010ilv.2 TBCK_uc003hye.2... Hybrid_Cap... view
TLK1 2 171850178 171850179 KO52_HAEMATOPOI... 37 3'UTR Ins - AA rs71008739 uc002ugo.2 TLK1_uc002ugn.2... Hybrid_Cap...
TMEM123 11 102269398 102269398 KO52_HAEMATOPOI... 37 3'UTR Del G - uc001pha.2 TMEM123_uc009yx... Hybrid_Cap...
TNNI3K p.R507I 1 74832979 74832979 KO52_HAEMATOPOI... 37 Missense_Mutation SNP G T uc001dge.1 TNNI3K_uc001dgc... Hybrid_Cap... view
TP53 p.R248W 17 7577539 7577539 KO52_HAEMATOPOI... 37 Missense_Mutation SNP G A uc002gim.2 TP53_uc002gig.1... Hybrid_Cap... view
TP63 3 189507518 189507519 KO52_HAEMATOPOI... 37 Intron Ins - AGAG rs62702062;rs79714037 uc003fry.2 TP63_uc003frx.2... Hybrid_Cap...
TRPM8 p.P767R 2 234879015 234879015 KO52_HAEMATOPOI... 37 Missense_Mutation SNP C G uc002vvh.2 TRPM8_uc010fyj.... Hybrid_Cap... view
TTN 2 179391639 179391640 KO52_HAEMATOPOI... 37 3'UTR Ins - T rs36037175 uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap...
TTN p.I28102T 2 179414440 179414440 KO52_HAEMATOPOI... 37 Missense_Mutation SNP A G uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
TTN 2 179614801 179614801 KO52_HAEMATOPOI... 37 Intron SNP G A uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
TYRO3 15 41854003 41854003 KO52_HAEMATOPOI... 37 Intron SNP A G uc001zof.1 TYRO3_uc001zoe.... Hybrid_Cap... view
VEGFC p.S419_splice 4 177605082 177605084 KO52_HAEMATOPOI... 37 Splice_Site_Del Del TCA - uc003ius.1 Hybrid_Cap...
WLS 1 68698045 68698045 KO52_HAEMATOPOI... 37 5'UTR SNP C T uc001dee.2 WLS_uc001def.1_... Hybrid_Cap... view
WRN p.T781I 8 30973938 30973938 KO52_HAEMATOPOI... 37 Missense_Mutation SNP C T rs17847568 uc003xio.3 WRN_uc010lvk.2_... Hybrid_Cap... view
XIAP p.E350del X 123025155 123025157 KO52_HAEMATOPOI... 37 In_Frame_Del Del GAG - uc010nqu.2 XIAP_uc004etx.2... Hybrid_Cap...