Annotation Summary for Cell Line: KASUMI-1  

Cell line primary name: KASUMI-1
Cell line aliases:
Gender: M
Site Primary: haematopoietic_and_lymphoid_tissue
Histology: haematopoietic_neoplasm
Hist Subtype1: acute_myeloid_leukaemia
Notes:
Source: DSMZ
Expression arrays: CRAZY_p_NCLE_RNA10_HG-U133_Plus_2_G04_569524
SNP arrays: HONEY_p_NCLE_DNAAffy3_S_GenomeWideSNP_6_D04_293358
Oncomap: yes
Hybrid Capture Sequencing: yes


Mutations in KASUMI-1

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 KASUMI1_HAEMATO... 37 In_Frame_Del Del TGT - rs55712143 uc002sfp.2 AAK1_uc010fdk.2... Hybrid_Cap...
ABCC3 17 48768562 48768562 KASUMI1_HAEMATO... 37 3'UTR SNP A G uc002isl.2 ABCC3_uc002isn.... Hybrid_Cap... view
ADAM17 2 9630245 9630245 KASUMI1_HAEMATO... 37 3'UTR Del T - uc002qzu.2 IAH1_uc010yiz.1... Hybrid_Cap...
ADAM28 8 24211994 24211997 KASUMI1_HAEMATO... 37 3'UTR Del CTAT - rs10610134 uc003xdy.2 ADAM28_uc011laa... Hybrid_Cap...
ADAMTS18 p.T161M 16 77465205 77465205 KASUMI1_HAEMATO... 37 Missense_Mutation SNP G A uc002ffc.3 ADAMTS18_uc002f... Hybrid_Cap... view
AKAP12 p.1531_1532insE 6 151674116 151674117 KASUMI1_HAEMATO... 37 In_Frame_Ins Ins - GAG rs34737819 uc011eep.1 AKAP12_uc003qoe... Hybrid_Cap...
ALPK1 4 113347609 113347610 KASUMI1_HAEMATO... 37 Intron Ins - T rs68137453 uc003iap.3 ALPK1_uc003ian.... Hybrid_Cap...
ARFGEF1 p.A1297V 8 68139398 68139398 KASUMI1_HAEMATO... 37 Missense_Mutation SNP G A uc003xxo.1 ARFGEF1_uc003xx... Hybrid_Cap... view
BCL7A p.S161W 12 122492753 122492753 KASUMI1_HAEMATO... 37 Missense_Mutation SNP C G uc001ubo.2 BCL7A_uc001ubp.... Hybrid_Cap... view
CACNB2 10 18828721 18828722 KASUMI1_HAEMATO... 37 3'UTR Ins - AA rs3841459 uc001ipr.2 CACNB2_uc009xjz... Hybrid_Cap...
CASC5 p.N1551D 15 40917035 40917035 KASUMI1_HAEMATO... 37 Missense_Mutation SNP A G uc010bbs.1 CASC5_uc010ucq.... Hybrid_Cap... view
CDK11B 1 1654066 1654068 KASUMI1_HAEMATO... 37 Intron Del GCG - uc001agv.1 CDK11B_uc001aha... Hybrid_Cap...
CDK2 12 56365605 56365605 KASUMI1_HAEMATO... 37 3'UTR SNP G A rs78839552 uc001sit.3 CDK2_uc001siu.3... Hybrid_Cap... view
CHIC2 4 54876132 54876132 KASUMI1_HAEMATO... 37 3'UTR Del C - rs4437313 uc003haj.1 PDGFRA_uc003haa... Hybrid_Cap...
CHRNA5 15 78885615 78885616 KASUMI1_HAEMATO... 37 3'UTR Ins - TA rs72534078 uc002bdy.2 CHRNA3_uc002bea... Hybrid_Cap...
CLTCL1 p.V1201_splice 22 19189003 19189004 KASUMI1_HAEMATO... 37 Splice_Site_Ins Ins - C rs11386977 uc002zpb.2 CLTCL1_uc011agv... Hybrid_Cap...
CNTN5 p.L1000S 11 100211906 100211906 KASUMI1_HAEMATO... 37 Missense_Mutation SNP T C uc001pga.2 CNTN5_uc001pgb.... Hybrid_Cap... view
CSPG4 p.R333P 15 75982408 75982408 KASUMI1_HAEMATO... 37 Missense_Mutation SNP C G uc002baw.2 Hybrid_Cap... view
CYP1A2 p.T438I 15 75047191 75047191 KASUMI1_HAEMATO... 37 Missense_Mutation SNP C T rs45486893 uc002ayr.1 Hybrid_Cap... view
DACH1 13 72014625 72014626 KASUMI1_HAEMATO... 37 3'UTR Ins - T rs117109529 uc010thn.1 DACH1_uc010tho.... Hybrid_Cap...
DFFB p.A156A 1 3782530 3782530 KASUMI1_HAEMATO... 37 Silent SNP C T uc010nzn.1 DFFB_uc001alc.2... Hybrid_Cap... view
DGKB 7 14216345 14216346 KASUMI1_HAEMATO... 37 Intron Ins - AGACT uc003ssz.2 DGKB_uc011jxt.1... Hybrid_Cap...
DIP2C 10 428447 428448 KASUMI1_HAEMATO... 37 Intron Del AG - uc001ifp.2 DIP2C_uc009xhj.... Hybrid_Cap...
DNAH8 6 38952247 38952248 KASUMI1_HAEMATO... 37 Intron Del CA - uc003ooe.1 DNAH8_uc003oog.... Hybrid_Cap...
DNAH8 p.P4475L 6 38998119 38998119 KASUMI1_HAEMATO... 37 Missense_Mutation SNP C T uc003ooe.1 Hybrid_Cap... view
DOCK3 p.E468D 3 51264740 51264740 KASUMI1_HAEMATO... 37 Missense_Mutation SNP G T uc011bds.1 Hybrid_Cap... view
ELN p.G710E 7 73481086 73481086 KASUMI1_HAEMATO... 37 Missense_Mutation SNP G A uc003tzw.2 RFC2_uc011kfa.1... Hybrid_Cap... view
EPHA4 2 222290624 222290624 KASUMI1_HAEMATO... 37 3'UTR Del T - uc002vmq.2 EPHA4_uc002vmr.... Hybrid_Cap...
EPHA6 3 97367230 97367231 KASUMI1_HAEMATO... 37 Intron Ins - A rs115253553 uc010how.1 EPHA6_uc003drs.... Hybrid_Cap...
EPHA7 p.M893R 6 93956558 93956558 KASUMI1_HAEMATO... 37 Missense_Mutation SNP A C uc003poe.2 EPHA7_uc003pof.... Hybrid_Cap... view
EPHA8 p.N844S 1 22927296 22927296 KASUMI1_HAEMATO... 37 Missense_Mutation SNP A G uc001bfx.1 Hybrid_Cap... view
ERC1 12 1137018 1137020 KASUMI1_HAEMATO... 37 5'UTR Del TTG - uc001qjb.2 ERC1_uc001qiz.2... Hybrid_Cap...
ETV1 7 14028708 14028708 KASUMI1_HAEMATO... 37 5'UTR Del A - rs77190713 uc011jxq.1 ETV1_uc011jxn.1... Hybrid_Cap...
FANCD2 3 10143086 10143087 KASUMI1_HAEMATO... 37 3'UTR Ins - A uc003bux.1 FANCD2_uc003buy... Hybrid_Cap...
FASLG p.A24D 1 172628412 172628412 KASUMI1_HAEMATO... 37 Missense_Mutation SNP C A uc001gis.2 FASLG_uc001git.... Hybrid_Cap... view
FASN p.N978S 17 80045671 80045671 KASUMI1_HAEMATO... 37 Missense_Mutation SNP T C uc002kdu.2 FASN_uc002kdw.1... Hybrid_Cap... view
FGFR1OP 6 167453519 167453520 KASUMI1_HAEMATO... 37 3'UTR Ins - T rs115519488 uc003qvj.2 CCR6_uc003qvl.2... Hybrid_Cap...
FLI1 11 128638217 128638217 KASUMI1_HAEMATO... 37 Intron Del G - uc010sbu.1 FLI1_uc010sbt.1... Hybrid_Cap...
FN1 2 216244182 216244185 KASUMI1_HAEMATO... 37 Intron Del GTAC - uc002vfa.2 FN1_uc002vfb.2_... Hybrid_Cap...
GPR112 p.D2657del X 135474445 135474447 KASUMI1_HAEMATO... 37 In_Frame_Del Del GAT - rs3030295 uc004ezu.1 GPR112_uc010nsb... Hybrid_Cap...
GRIA3 X 122318386 122318387 KASUMI1_HAEMATO... 37 Splice_Site_Ins Ins - G rs66632982 uc004etq.3 GRIA3_uc004etr.... Hybrid_Cap...
GRIN2B p.R439C 12 13769402 13769402 KASUMI1_HAEMATO... 37 Missense_Mutation SNP G A uc001rbt.2 Hybrid_Cap... view
GUCY2C 12 14827464 14827466 KASUMI1_HAEMATO... 37 Intron Del ATC - rs72525754;rs3083879 uc001rcd.2 GUCY2C_uc009zhz... Hybrid_Cap...
HIF1A 14 62213929 62213930 KASUMI1_HAEMATO... 37 3'UTR Ins - T rs67890419 uc001xfs.2 HIF1A_uc001xfq.... Hybrid_Cap...
HNF1A 12 121434630 121434631 KASUMI1_HAEMATO... 37 Intron Ins - TCATTCAT rs75100977 uc010szn.1 HNF1A_uc001tze.... Hybrid_Cap...
IGF1R 15 99192755 99192763 KASUMI1_HAEMATO... 37 5'UTR Del TTTTT... - uc002bul.2 IGF1R_uc010urq.... Hybrid_Cap...
IGF1R p.T104M 15 99251007 99251007 KASUMI1_HAEMATO... 37 Missense_Mutation SNP C T uc002bul.2 IGF1R_uc010urq.... Hybrid_Cap... view
ILK 11 6630029 6630029 KASUMI1_HAEMATO... 37 Intron Del C - uc001mee.2 ILK_uc001mef.2_... Hybrid_Cap...
ITGB4 p.P835A 17 73736495 73736495 KASUMI1_HAEMATO... 37 Missense_Mutation SNP C G uc002jpg.2 ITGB4_uc002jph.... Hybrid_Cap... view
ITPR1 p.L1791F 3 4777009 4777009 KASUMI1_HAEMATO... 37 Missense_Mutation SNP C T uc003bqa.2 ITPR1_uc010hca.... Hybrid_Cap... view
ITPR2 p.R470_splice 12 26834804 26834805 KASUMI1_HAEMATO... 37 Splice_Site_Ins Ins - ACTC rs66696203;rs59199365 uc001rhg.2 Hybrid_Cap...
KIT p.N822K 4 55599340 55599340 KASUMI1_HAEMATO... 37 Missense_Mutation SNP T A uc010igr.2 KIT_uc010igs.2_... Hybrid_Cap... view
KLK7 19 51480672 51480675 KASUMI1_HAEMATO... 37 3'UTR Del GGTT - uc002puo.2 KLK7_uc002pup.2... Hybrid_Cap...
LATS2 13 21620222 21620223 KASUMI1_HAEMATO... 37 5'UTR Ins - A rs61240127;rs115723063 uc009zzs.2 LATS2_uc001unr.... Hybrid_Cap...
MAML2 p.S462A 11 95825811 95825811 KASUMI1_HAEMATO... 37 Missense_Mutation SNP A C uc001pfw.1 Hybrid_Cap... view
MAML3 p.Q767_splice 4 140651585 140651587 KASUMI1_HAEMATO... 37 Splice_Site_Del Del CTG - uc003ihz.1 MGST2_uc010ioi.... Hybrid_Cap...
MAP3K1 p.T949del 5 56177849 56177851 KASUMI1_HAEMATO... 37 In_Frame_Del Del CAA - uc003jqw.3 Hybrid_Cap...
MAP3K14 p.R218_splice 17 43364293 43364294 KASUMI1_HAEMATO... 37 Splice_Site_Ins Ins - G rs66766023 uc002iiw.1 MAP3K14_uc010da... Hybrid_Cap...
MCM3APAS 21 47671275 47671276 KASUMI1_HAEMATO... 37 3'UTR Ins - AAT rs67797185 uc002zin.2 MCM3APAS_uc002z... Hybrid_Cap...
MKNK1 p.R32Q 1 47048941 47048941 KASUMI1_HAEMATO... 37 Missense_Mutation SNP C T uc001cqb.2 MKNK1_uc010omd.... Hybrid_Cap... view
MSH3 p.AAAAAA52del 5 79950700 79950717 KASUMI1_HAEMATO... 37 In_Frame_Del Del GCAGC... - rs2405875;rs67658031;rs2431220 uc003kgz.2 DHFR_uc011ctl.1... Hybrid_Cap...
MSH5 p.R532P 6 31727611 31727611 KASUMI1_HAEMATO... 37 Missense_Mutation SNP G C uc003nwt.1 MSH5_uc003nwu.1... Hybrid_Cap... view
MSH6 2 48034033 48034033 KASUMI1_HAEMATO... 37 3'UTR SNP G C uc002rwd.3 MSH6_uc010fbj.2... Hybrid_Cap... view
MYC 8 128753244 128753244 KASUMI1_HAEMATO... 37 3'UTR SNP C G uc003ysi.2 Hybrid_Cap... view
MYLK 3 123332876 123332876 KASUMI1_HAEMATO... 37 3'UTR Del T - rs115544676 uc003ego.2 MYLK_uc003egl.2... Hybrid_Cap...
NACA p.P1320Q 12 57111355 57111355 KASUMI1_HAEMATO... 37 Missense_Mutation SNP G T uc009zoy.1 NACA_uc001slz.2... Hybrid_Cap... view
NCAM1 11 112832307 112832308 KASUMI1_HAEMATO... 37 5'UTR Ins - A rs117108942 uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCAM1 11 112832340 112832340 KASUMI1_HAEMATO... 37 5'UTR Del C - uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCOA1 p.R867_splice 2 24933982 24933983 KASUMI1_HAEMATO... 37 Splice_Site_Del Del TA - uc002rfk.2 NCOA1_uc010eye.... Hybrid_Cap...
NEDD9 6 11232907 11232907 KASUMI1_HAEMATO... 37 5'UTR SNP C T uc003mzv.2 NEDD9_uc010joz.... Hybrid_Cap... view
NEK3 p.K313_splice 13 52718050 52718051 KASUMI1_HAEMATO... 37 Splice_Site_Ins Ins - T rs72514762 uc001vgh.2 NEK3_uc001vgg.2... Hybrid_Cap...
NFIA 1 61921185 61921186 KASUMI1_HAEMATO... 37 3'UTR Ins - T rs57270124;rs76131997 uc010oos.1 NFIA_uc001czy.2... Hybrid_Cap...
NPR1 1 153665919 153665920 KASUMI1_HAEMATO... 37 3'UTR Ins - C rs66682713 uc001fcs.3 NPR1_uc010pdz.1... Hybrid_Cap...
NPRL2 3 50384978 50384978 KASUMI1_HAEMATO... 37 3'UTR Del C - rs75013672 uc003daj.1 ZMYND10_uc003da... Hybrid_Cap...
NR1H2 p.176_177insQ 19 50881820 50881821 KASUMI1_HAEMATO... 37 In_Frame_Ins Ins - AAC rs66783852;rs112359270 uc010enw.2 NR1H2_uc002prv.... Hybrid_Cap...
NR1H2 p.176_177insQ 19 50881822 50881823 KASUMI1_HAEMATO... 37 In_Frame_Ins Ins - CAG rs61751954;rs1052533 uc010enw.2 NR1H2_uc002prv.... Hybrid_Cap...
PAX3 2 223066017 223066018 KASUMI1_HAEMATO... 37 Intron Ins - C rs115619343 uc002vmt.1 PAX3_uc002vmy.1... Hybrid_Cap...
PAX3 2 223158653 223158653 KASUMI1_HAEMATO... 37 Intron Del T - rs112753212 uc002vmt.1 PAX3_uc002vmy.1... Hybrid_Cap...
PDGFRA p.T124fs 4 54256015 54256016 KASUMI1_HAEMATO... 37 Frame_Shift_Del Del AG - uc003haa.2 FIP1L1_uc003gzx... Hybrid_Cap...
PGGT1B 5 114548071 114548072 KASUMI1_HAEMATO... 37 3'UTR Ins - C uc003kqw.3 PGGT1B_uc003kqx... Hybrid_Cap...
PGR 11 100933598 100933599 KASUMI1_HAEMATO... 37 Intron Ins - AATGA rs35148438 uc001pgh.2 PGR_uc001pgg.2_... Hybrid_Cap...
PIK3C2G 12 18801112 18801115 KASUMI1_HAEMATO... 37 3'UTR Del TTGT - rs35889592 uc010sib.1 PIK3C2G_uc001rd... Hybrid_Cap...
PIK3CG p.A197T 7 106508595 106508595 KASUMI1_HAEMATO... 37 Missense_Mutation SNP G A uc003vdv.3 PIK3CG_uc003vdu... Hybrid_Cap... view
PPARGC1A p.D81H 4 23833368 23833368 KASUMI1_HAEMATO... 37 Missense_Mutation SNP C G uc003gqs.2 PPARGC1A_uc003g... Hybrid_Cap... view
PRKCA 17 64298959 64298960 KASUMI1_HAEMATO... 37 5'UTR Ins - G rs71160558 uc002jfp.1 PRKCA_uc002jfo.... Hybrid_Cap...
PRKDC p.L1244fs 8 48805816 48805817 KASUMI1_HAEMATO... 37 Frame_Shift_Ins Ins - G rs67588121 uc003xqi.2 PRKDC_uc003xqj.... Hybrid_Cap...
PXDN p.K274N 2 1680725 1680725 KASUMI1_HAEMATO... 37 Missense_Mutation SNP C A uc002qxa.2 PXDN_uc002qxb.1... Hybrid_Cap... view
RAD21 p.K330fs 8 117866656 117866657 KASUMI1_HAEMATO... 37 Frame_Shift_Ins Ins - CCCG uc003yod.2 Hybrid_Cap...
RECQL4 p.R766fs 8 145738768 145738768 KASUMI1_HAEMATO... 37 Frame_Shift_Del Del G - uc003zdj.2 Hybrid_Cap...
RPS6KB1 17 58024224 58024225 KASUMI1_HAEMATO... 37 3'UTR Ins - AA rs67846207 uc002ixy.2 RPS6KB1_uc010dd... Hybrid_Cap...
RPS6KL1 14 75373626 75373627 KASUMI1_HAEMATO... 37 3'UTR Ins - TGAT uc001xqx.1 RPS6KL1_uc001xq... Hybrid_Cap...
SEPT9 p.K381N 17 75484827 75484827 KASUMI1_HAEMATO... 37 Missense_Mutation SNP G T uc002jts.3 SEPT9_uc010wtk.... Hybrid_Cap... view
STK31 7 23872024 23872025 KASUMI1_HAEMATO... 37 3'UTR Ins - TTTG rs66787534 uc003sws.3 STK31_uc003swt.... Hybrid_Cap...
STRADA 17 61781331 61781332 KASUMI1_HAEMATO... 37 Intron Ins - AGAACC rs66701913 uc002jbm.2 STRADA_uc002jbn... Hybrid_Cap...
TEC 4 48139307 48139310 KASUMI1_HAEMATO... 37 3'UTR Del TTAT - rs79098351 uc003gxz.2 Hybrid_Cap...
TGFB2 1 218519928 218519929 KASUMI1_HAEMATO... 37 5'UTR Ins - AAAC uc001hln.2 TGFB2_uc001hll.... Hybrid_Cap...
TGFB2 p.P113L 1 218520381 218520381 KASUMI1_HAEMATO... 37 Missense_Mutation SNP C T uc001hln.2 TGFB2_uc001hll.... Hybrid_Cap... view
TLK1 2 171850178 171850179 KASUMI1_HAEMATO... 37 3'UTR Ins - AA rs71008739 uc002ugo.2 TLK1_uc002ugn.2... Hybrid_Cap...
TMEM123 11 102269398 102269398 KASUMI1_HAEMATO... 37 3'UTR Del G - uc001pha.2 TMEM123_uc009yx... Hybrid_Cap...
TP53 p.R248Q 17 7577538 7577538 KASUMI1_HAEMATO... 37 Missense_Mutation SNP C T rs11540652 uc002gim.2 TP53_uc002gig.1... Hybrid_Cap... view
TPO p.P499P 2 1488526 1488526 KASUMI1_HAEMATO... 37 Silent SNP G A uc002qww.2 TPO_uc010ewj.2_... Hybrid_Cap... view
TRIM33 1 114940212 114940212 KASUMI1_HAEMATO... 37 3'UTR Del T - uc001eew.2 TRIM33_uc010owr... Hybrid_Cap...
TRIP11 p.G136S 14 92488082 92488083 KASUMI1_HAEMATO... 37 Missense_Mutation DNP CA TG rs77981249 uc001xzy.2 Hybrid_Cap...
TRPS1 8 116635872 116635873 KASUMI1_HAEMATO... 37 5'UTR Ins - A rs76893349 uc003yny.2 TRPS1_uc011lhy.... Hybrid_Cap...
TTN p.E26399Q 2 179423287 179423287 KASUMI1_HAEMATO... 37 Missense_Mutation SNP C G uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
TTN p.T16277M 2 179463986 179463986 KASUMI1_HAEMATO... 37 Missense_Mutation SNP G A uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
TTN p.S4251R 2 179597303 179597303 KASUMI1_HAEMATO... 37 Missense_Mutation SNP G T uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
VEGFC p.S419_splice 4 177605082 177605084 KASUMI1_HAEMATO... 37 Splice_Site_Del Del TCA - uc003ius.1 Hybrid_Cap...
ZFYVE9 1 52729599 52729599 KASUMI1_HAEMATO... 37 Intron SNP C T uc001cto.2 ZFYVE9_uc001ctn... Hybrid_Cap... view
ZNF423 p.A319T 16 49672108 49672108 KASUMI1_HAEMATO... 37 Missense_Mutation SNP C T uc002efs.2 ZNF423_uc010vgn... Hybrid_Cap... view