Annotation Summary for Cell Line: KU812  

Cell line primary name: KU812
Cell line aliases:
Gender: M
Site Primary: haematopoietic_and_lymphoid_tissue
Histology: haematopoietic_neoplasm
Hist Subtype1: chronic_myeloid_leukaemia
Notes:
Source: ATCC
Expression arrays: WATCH_p_NCLE_RNA8_HG-U133_Plus_2_B01_474602
SNP arrays: BOWER_p_NCLE_DNAAffy8_GenomeWideSNP_6_F02_464684
Oncomap: yes
Hybrid Capture Sequencing: yes


Mutations in KU812

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 KU812_HAEMATOPO... 37 In_Frame_Del Del TGT - rs55712143 uc002sfp.2 AAK1_uc010fdk.2... Hybrid_Cap...
ADAM28 8 24211994 24211997 KU812_HAEMATOPO... 37 3'UTR Del CTAT - rs10610134 uc003xdy.2 ADAM28_uc011laa... Hybrid_Cap...
AKAP12 p.1531_1532insE 6 151674116 151674117 KU812_HAEMATOPO... 37 In_Frame_Ins Ins - GAG rs34737819 uc011eep.1 AKAP12_uc003qoe... Hybrid_Cap...
AKAP9 p.1335_1336insQ 7 91652178 91652179 KU812_HAEMATOPO... 37 In_Frame_Ins Ins - AAC rs34756483 uc003ulg.2 AKAP9_uc003ule.... Hybrid_Cap...
ALPK1 4 113347609 113347610 KU812_HAEMATOPO... 37 Intron Ins - T rs68137453 uc003iap.3 ALPK1_uc003ian.... Hybrid_Cap...
ALS2 2 202587706 202587707 KU812_HAEMATOPO... 37 Intron Ins - A rs3219165 uc002uyo.2 ALS2_uc002uyp.3... Hybrid_Cap...
AMHR2 p.W65G 12 53818215 53818215 KU812_HAEMATOPO... 37 Missense_Mutation SNP T G uc001scx.1 AMHR2_uc009zmy.... Hybrid_Cap... view
ASPH p.A264_splice 8 62550924 62550925 KU812_HAEMATOPO... 37 Splice_Site_Ins Ins - A rs5891816 uc003xuj.2 ASPH_uc011leg.1... Hybrid_Cap...
AURKC 19 57742531 57742532 KU812_HAEMATOPO... 37 5'UTR Ins - C uc002qoe.2 AURKC_uc002qoc.... Hybrid_Cap...
BTG1 12 92537706 92537707 KU812_HAEMATOPO... 37 3'UTR Ins - T rs33983967 uc001tby.3 BTG1_uc001tbv.1... Hybrid_Cap...
CACNB2 10 18828721 18828722 KU812_HAEMATOPO... 37 3'UTR Ins - AA rs3841459 uc001ipr.2 CACNB2_uc009xjz... Hybrid_Cap...
CDK11B 1 1654066 1654068 KU812_HAEMATOPO... 37 Intron Del GCG - uc001agv.1 CDK11B_uc001aha... Hybrid_Cap...
CLTCL1 p.A1247D 22 19188865 19188865 KU812_HAEMATOPO... 37 Missense_Mutation SNP G T uc002zpb.2 CLTCL1_uc011agv... Hybrid_Cap... view
CLTCL1 p.V1201_splice 22 19189003 19189004 KU812_HAEMATOPO... 37 Splice_Site_Ins Ins - C rs11386977 uc002zpb.2 CLTCL1_uc011agv... Hybrid_Cap...
CREB3L2 p.T100del 7 137612914 137612916 KU812_HAEMATOPO... 37 In_Frame_Del Del TGG - uc003vtw.2 CREB3L2_uc003vt... Hybrid_Cap...
CTLA4 2 204732652 204732652 KU812_HAEMATOPO... 37 5'UTR SNP G A uc002vak.1 CTLA4_uc002val.... Hybrid_Cap... view
DACH1 13 72014625 72014626 KU812_HAEMATOPO... 37 3'UTR Ins - T rs117109529 uc010thn.1 DACH1_uc010tho.... Hybrid_Cap...
DAPK2 p.F2S 15 64332456 64332456 KU812_HAEMATOPO... 37 Missense_Mutation SNP A G uc002amr.2 DAPK2_uc010uim.... Hybrid_Cap... view
DGKB 7 14216345 14216346 KU812_HAEMATOPO... 37 Intron Ins - AGACT uc003ssz.2 DGKB_uc011jxt.1... Hybrid_Cap...
DST 6 56481343 56481343 KU812_HAEMATOPO... 37 Intron SNP G C uc003pdf.2 DST_uc003pcz.3_... Hybrid_Cap... view
EDN1 6 12290729 12290729 KU812_HAEMATOPO... 37 5'UTR Del A - uc003nae.3 EDN1_uc010jpb.2... Hybrid_Cap...
EPHA5 p.A278T 4 66467437 66467437 KU812_HAEMATOPO... 37 Missense_Mutation SNP C T uc011cah.1 EPHA5_uc003hcx.... Hybrid_Cap... view
EPHA6 3 97367230 97367231 KU812_HAEMATOPO... 37 Intron Ins - A rs115253553 uc010how.1 EPHA6_uc003drs.... Hybrid_Cap...
ETV1 7 14028708 14028708 KU812_HAEMATOPO... 37 5'UTR Del A - rs77190713 uc011jxq.1 ETV1_uc011jxn.1... Hybrid_Cap...
FGFR1OP 6 167453519 167453520 KU812_HAEMATOPO... 37 3'UTR Ins - T rs115519488 uc003qvj.2 CCR6_uc003qvl.2... Hybrid_Cap...
FGFR3 4 1809128 1809129 KU812_HAEMATOPO... 37 3'UTR Del GT - uc003gdu.2 FGFR3_uc003gdr.... Hybrid_Cap...
FLT4 5 180035183 180035185 KU812_HAEMATOPO... 37 Intron Del AGT - uc003mlz.3 FLT4_uc003mma.3... Hybrid_Cap...
FN1 2 216244182 216244185 KU812_HAEMATOPO... 37 Intron Del GTAC - uc002vfa.2 FN1_uc002vfb.2_... Hybrid_Cap...
FOXP1 3 71008341 71008342 KU812_HAEMATOPO... 37 3'UTR Ins - T rs11433724;rs114233617 uc003dol.2 FOXP1_uc003dom.... Hybrid_Cap...
GPR112 p.D2657del X 135474445 135474447 KU812_HAEMATOPO... 37 In_Frame_Del Del GAT - rs3030295 uc004ezu.1 GPR112_uc010nsb... Hybrid_Cap...
GRIA3 X 122318386 122318387 KU812_HAEMATOPO... 37 Splice_Site_Ins Ins - G rs66632982 uc004etq.3 GRIA3_uc004etr.... Hybrid_Cap...
GUCY1A2 11 106558224 106558224 KU812_HAEMATOPO... 37 3'UTR SNP C T uc009yxn.1 GUCY1A2_uc001pj... Hybrid_Cap... view
GUCY2C 12 14766036 14766036 KU812_HAEMATOPO... 37 3'UTR SNP A G uc001rcd.2 Hybrid_Cap... view
GUCY2C 12 14827464 14827466 KU812_HAEMATOPO... 37 Intron Del ATC - rs72525754;rs3083879 uc001rcd.2 GUCY2C_uc009zhz... Hybrid_Cap...
HDAC1 1 32796094 32796094 KU812_HAEMATOPO... 37 Intron SNP T C uc001bvb.1 HDAC1_uc010ohf.... Hybrid_Cap... view
HIF1A 14 62213929 62213930 KU812_HAEMATOPO... 37 3'UTR Ins - T rs67890419 uc001xfs.2 HIF1A_uc001xfq.... Hybrid_Cap...
HNF1A 12 121434630 121434631 KU812_HAEMATOPO... 37 Intron Ins - TCATTCAT rs75100977 uc010szn.1 HNF1A_uc001tze.... Hybrid_Cap...
IGF1R 15 99192755 99192763 KU812_HAEMATOPO... 37 5'UTR Del TTTTT... - uc002bul.2 IGF1R_uc010urq.... Hybrid_Cap...
ILK 11 6630029 6630029 KU812_HAEMATOPO... 37 Intron Del C - uc001mee.2 ILK_uc001mef.2_... Hybrid_Cap...
ITPR2 p.R470_splice 12 26834804 26834805 KU812_HAEMATOPO... 37 Splice_Site_Ins Ins - ACTC rs66696203;rs59199365 uc001rhg.2 Hybrid_Cap...
KIAA2022 p.R1121W X 73961031 73961031 KU812_HAEMATOPO... 37 Missense_Mutation SNP G A uc004eby.2 Hybrid_Cap... view
KLK7 19 51480672 51480675 KU812_HAEMATOPO... 37 3'UTR Del GGTT - uc002puo.2 KLK7_uc002pup.2... Hybrid_Cap...
LAMP1 13 113976798 113976798 KU812_HAEMATOPO... 37 3'UTR SNP C A uc001vtm.1 LAMP1_uc010tka.... Hybrid_Cap... view
LATS2 13 21620222 21620223 KU812_HAEMATOPO... 37 5'UTR Ins - A rs61240127;rs115723063 uc009zzs.2 LATS2_uc001unr.... Hybrid_Cap...
LDLR 19 11240135 11240135 KU812_HAEMATOPO... 37 Intron SNP C G uc002mqk.3 LDLR_uc010xlk.1... Hybrid_Cap... view
MAML3 p.Q767_splice 4 140651585 140651587 KU812_HAEMATOPO... 37 Splice_Site_Del Del CTG - uc003ihz.1 MGST2_uc010ioi.... Hybrid_Cap...
MAP3K14 p.R218_splice 17 43364293 43364294 KU812_HAEMATOPO... 37 Splice_Site_Ins Ins - G rs66766023 uc002iiw.1 MAP3K14_uc010da... Hybrid_Cap...
MAP4K1 p.D302H 19 39100572 39100572 KU812_HAEMATOPO... 37 Missense_Mutation SNP C G uc002oix.1 MAP4K1_uc002oiw... Hybrid_Cap... view
MAPK14 6 36076345 36076354 KU812_HAEMATOPO... 37 3'UTR Del GTGTG... - rs80147786 uc003olp.2 MAPK14_uc003olq... Hybrid_Cap...
MEF2A p.Q430del 15 100252710 100252712 KU812_HAEMATOPO... 37 In_Frame_Del Del CAG - uc010urw.1 MEF2A_uc010urv.... Hybrid_Cap...
MSH5 6 31725898 31725898 KU812_HAEMATOPO... 37 Intron SNP C T uc003nwt.1 MSH5_uc003nwu.1... Hybrid_Cap... view
MYLK p.E1066del 3 123419117 123419119 KU812_HAEMATOPO... 37 In_Frame_Del Del TTC - rs72491150 uc003ego.2 MYLK_uc011bjw.1... Hybrid_Cap...
MYST4 p.E1104del 10 76781906 76781908 KU812_HAEMATOPO... 37 In_Frame_Del Del GAA - rs79644703 uc001jwn.1 MYST4_uc001jwm.... Hybrid_Cap...
MYST4 10 76790935 76790936 KU812_HAEMATOPO... 37 3'UTR Ins - A rs3832681 uc001jwn.1 MYST4_uc001jwo.... Hybrid_Cap...
NCAM1 11 112832307 112832308 KU812_HAEMATOPO... 37 5'UTR Ins - A rs117108942 uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCAM1 11 112832340 112832340 KU812_HAEMATOPO... 37 5'UTR Del C - uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NEK3 p.K313_splice 13 52718050 52718051 KU812_HAEMATOPO... 37 Splice_Site_Ins Ins - T rs72514762 uc001vgh.2 NEK3_uc001vgg.2... Hybrid_Cap...
NFKB1 p.D958H 4 103537713 103537713 KU812_HAEMATOPO... 37 Missense_Mutation SNP G C uc011cep.1 NFKB1_uc011ceq.... Hybrid_Cap... view
NFKB1 4 103537823 103537823 KU812_HAEMATOPO... 37 3'UTR SNP C G uc011cep.1 NFKB1_uc011ceq.... Hybrid_Cap... view
NPM1 5 170837734 170837734 KU812_HAEMATOPO... 37 3'UTR Del T - uc011dex.1 NPM1_uc003mbi.2... Hybrid_Cap...
NPR1 1 153665919 153665920 KU812_HAEMATOPO... 37 3'UTR Ins - C rs66682713 uc001fcs.3 NPR1_uc010pdz.1... Hybrid_Cap...
NPRL2 3 50384978 50384978 KU812_HAEMATOPO... 37 3'UTR Del C - rs75013672 uc003daj.1 ZMYND10_uc003da... Hybrid_Cap...
NR1H2 p.176_177insQ 19 50881820 50881821 KU812_HAEMATOPO... 37 In_Frame_Ins Ins - AAC rs66783852;rs112359270 uc010enw.2 NR1H2_uc002prv.... Hybrid_Cap...
NR1H2 p.176_177insQ 19 50881822 50881823 KU812_HAEMATOPO... 37 In_Frame_Ins Ins - CAG rs61751954;rs1052533 uc010enw.2 NR1H2_uc002prv.... Hybrid_Cap...
NUP214 9 134067556 134067557 KU812_HAEMATOPO... 37 Intron Ins - T rs66652901 uc004cag.2 NUP214_uc004cah... Hybrid_Cap...
PAX3 2 223066017 223066018 KU812_HAEMATOPO... 37 Intron Ins - C rs115619343 uc002vmt.1 PAX3_uc002vmy.1... Hybrid_Cap...
PAX3 2 223158653 223158653 KU812_HAEMATOPO... 37 Intron Del T - rs112753212 uc002vmt.1 PAX3_uc002vmy.1... Hybrid_Cap...
PDE4DIP p.L601fs 1 144915624 144915624 KU812_HAEMATOPO... 37 Frame_Shift_Del Del G - rs1778112 uc001elw.3 NBPF10_uc009wir... Hybrid_Cap...
PDE4DIP p.L411S 1 144918954 144918954 KU812_HAEMATOPO... 37 Missense_Mutation SNP A G uc001elw.3 NBPF10_uc009wir... Hybrid_Cap... view
PDE4DIP p.E243fs 1 144923729 144923729 KU812_HAEMATOPO... 37 Frame_Shift_Del Del T - uc001elw.3 NBPF10_uc009wir... Hybrid_Cap...
PGR 11 100933598 100933599 KU812_HAEMATOPO... 37 Intron Ins - AATGA rs35148438 uc001pgh.2 PGR_uc001pgg.2_... Hybrid_Cap...
PHIP 6 79650327 79650327 KU812_HAEMATOPO... 37 3'UTR SNP G T uc003pir.2 PHIP_uc003piq.2... Hybrid_Cap... view
PIK3C2A 11 17111198 17111199 KU812_HAEMATOPO... 37 3'UTR Del GT - uc001mmq.3 PIK3C2A_uc009yg... Hybrid_Cap...
PKN1 p.S567T 19 14574916 14574916 KU812_HAEMATOPO... 37 Missense_Mutation SNP G C uc002myq.2 PKN1_uc002myp.2... Hybrid_Cap... view
PMS1 2 190670539 190670540 KU812_HAEMATOPO... 37 Intron Ins - A rs3214425 uc002urh.3 PMS1_uc010zga.1... Hybrid_Cap...
PRKDC p.L1244fs 8 48805816 48805817 KU812_HAEMATOPO... 37 Frame_Shift_Ins Ins - G rs67588121 uc003xqi.2 PRKDC_uc003xqj.... Hybrid_Cap...
RARB 3 25470118 25470119 KU812_HAEMATOPO... 37 Intron Ins - A rs11403838 uc011awl.1 RARB_uc003cdi.1... Hybrid_Cap...
RECQL4 p.R766fs 8 145738768 145738768 KU812_HAEMATOPO... 37 Frame_Shift_Del Del G - uc003zdj.2 Hybrid_Cap...
RGL2 p.R650C 6 33260852 33260852 KU812_HAEMATOPO... 37 Missense_Mutation SNP G A uc003odv.2 RGL2_uc003odu.2... Hybrid_Cap... view
SEPT9 17 75494787 75494788 KU812_HAEMATOPO... 37 3'UTR Ins - C rs5822173 uc002jts.3 SEPT9_uc010wtk.... Hybrid_Cap...
SORL1 p.A1311S 11 121458845 121458845 KU812_HAEMATOPO... 37 Missense_Mutation SNP G T uc001pxx.2 SORL1_uc010rzp.... Hybrid_Cap... view
STK31 7 23872024 23872025 KU812_HAEMATOPO... 37 3'UTR Ins - TTTG rs66787534 uc003sws.3 STK31_uc003swt.... Hybrid_Cap...
TAF1L p.G1287C 9 32631719 32631719 KU812_HAEMATOPO... 37 Missense_Mutation SNP C A uc003zrg.1 Hybrid_Cap... view
TEC p.V465L 4 48147173 48147173 KU812_HAEMATOPO... 37 Missense_Mutation SNP C G uc003gxz.2 Hybrid_Cap... view
TMEM123 11 102269398 102269398 KU812_HAEMATOPO... 37 3'UTR Del G - uc001pha.2 TMEM123_uc009yx... Hybrid_Cap...
TP53 p.K132R 17 7578535 7578535 KU812_HAEMATOPO... 37 Missense_Mutation SNP T C uc002gim.2 TP53_uc002gig.1... Hybrid_Cap... view
TP63 3 189507518 189507519 KU812_HAEMATOPO... 37 Intron Ins - AGAG rs62702062;rs79714037 uc003fry.2 TP63_uc003frx.2... Hybrid_Cap...
TRPS1 8 116635872 116635873 KU812_HAEMATOPO... 37 5'UTR Ins - A rs76893349 uc003yny.2 TRPS1_uc011lhy.... Hybrid_Cap...
TTN p.R26725C 2 179422112 179422112 KU812_HAEMATOPO... 37 Missense_Mutation SNP G A uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
TTN p.C4883G 2 179594601 179594601 KU812_HAEMATOPO... 37 Missense_Mutation SNP A C uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
VEGFC p.S419_splice 4 177605082 177605084 KU812_HAEMATOPO... 37 Splice_Site_Del Del TCA - uc003ius.1 Hybrid_Cap...
ZMYM2 p.Y530Y 13 20600757 20600757 KU812_HAEMATOPO... 37 Silent SNP T C uc001umr.2 ZMYM2_uc001ums.... Hybrid_Cap... view