Annotation Summary for Cell Line: EM-2  

Cell line primary name: EM-2
Cell line aliases:
Gender: F
Site Primary: haematopoietic_and_lymphoid_tissue
Histology: haematopoietic_neoplasm
Hist Subtype1: blast_phase_chronic_myeloid_leukaemia
Notes:
Source: DSMZ
Expression arrays: WATCH_p_NCLE_RNA8_HG-U133_Plus_2_D10_474678
SNP arrays: CHARY_p_NCLE_DNAAffy9_GenomeWideSNP_6_B05_490454
Oncomap: yes
Hybrid Capture Sequencing: yes


Mutations in EM-2

GeneProtein
Change
ChrStartEnd SampleNCBI
Build
Variant
Classification
Variant TypeReference
Allele
Tumor
Allele 1
dbSNP IDAnnotation
Transcript
Other
Transcripts
Method View
Reads
Mutation
Assessor
ACACA p.D198Y 17 35640186 35640186 EM2_HAEMATOPOIE... 37 Missense_Mutation SNP C A uc002hno.2 ACACA_uc002hnk.... Hybrid_Cap... view
ACACA 17 35766564 35766564 EM2_HAEMATOPOIE... 37 5'UTR Del A - uc002hno.2 ACACA_uc002hnn.... Hybrid_Cap...
ACSL6 p.V56M 5 131329828 131329828 EM2_HAEMATOPOIE... 37 Missense_Mutation SNP C T uc003kvx.1 ACSL6_uc003kvv.... Hybrid_Cap... view
ACVR1 p.G264S 2 158626880 158626880 EM2_HAEMATOPOIE... 37 Missense_Mutation SNP C T uc002tzm.3 ACVR1_uc002tzn.... Hybrid_Cap... view
ADAM17 2 9630245 9630245 EM2_HAEMATOPOIE... 37 3'UTR Del T - uc002qzu.2 IAH1_uc010yiz.1... Hybrid_Cap...
ADAM28 8 24211994 24211997 EM2_HAEMATOPOIE... 37 3'UTR Del CTAT - rs10610134 uc003xdy.2 ADAM28_uc011laa... Hybrid_Cap...
AKAP12 p.1531_1532insE 6 151674116 151674117 EM2_HAEMATOPOIE... 37 In_Frame_Ins Ins - GAG rs34737819 uc011eep.1 AKAP12_uc003qoe... Hybrid_Cap...
ALPK1 4 113347609 113347610 EM2_HAEMATOPOIE... 37 Intron Ins - T rs68137453 uc003iap.3 ALPK1_uc003ian.... Hybrid_Cap...
ALPK2 p.EDTST1006del 18 56204388 56204402 EM2_HAEMATOPOIE... 37 In_Frame_Del Del CAGTT... - rs60644017;rs117623369 uc002lhj.3 ALPK2_uc002lhk.... Hybrid_Cap...
ALPK2 p.T2164N 18 56149077 56149077 EM2_HAEMATOPOIE... 37 Missense_Mutation SNP G T uc002lhj.3 Hybrid_Cap... view
AURKC 19 57742494 57742507 EM2_HAEMATOPOIE... 37 5'UTR Del GGACG... - rs67926438;rs112039303;rs59094959 uc002qoe.2 AURKC_uc002qoc.... Hybrid_Cap...
BCR 22 23631813 23631814 EM2_HAEMATOPOIE... 37 Intron Ins - C rs66503844 uc002zww.2 BCR_uc002zwx.2_... Hybrid_Cap...
BCR 22 23632777 23632778 EM2_HAEMATOPOIE... 37 Intron Ins - T uc002zww.2 BCR_uc002zwx.2_... Hybrid_Cap...
BMP4 p.C337F 14 54416967 54416967 EM2_HAEMATOPOIE... 37 Missense_Mutation SNP C A uc001xal.3 BMP4_uc010aoh.2... Hybrid_Cap... view
BRD2 p.P192S 6 32943910 32943910 EM2_HAEMATOPOIE... 37 Missense_Mutation SNP C T uc010juh.2 BRD2_uc003ocn.3... Hybrid_Cap... view
C15ORF55 p.V3F 15 34638143 34638143 EM2_HAEMATOPOIE... 37 Missense_Mutation SNP G T uc010ucc.1 NOP10_uc001zie.... Hybrid_Cap... view
C17ORF37 17 37885640 37885641 EM2_HAEMATOPOIE... 37 3'UTR Ins - G rs75811535 uc002hsq.2 Hybrid_Cap...
CACNB2 10 18828721 18828722 EM2_HAEMATOPOIE... 37 3'UTR Ins - AA rs3841459 uc001ipr.2 CACNB2_uc009xjz... Hybrid_Cap...
CDK11B 1 1654066 1654068 EM2_HAEMATOPOIE... 37 Intron Del GCG - uc001agv.1 CDK11B_uc001aha... Hybrid_Cap...
CDKL3 p.H59Q 5 133695771 133695771 EM2_HAEMATOPOIE... 37 Missense_Mutation SNP G T uc003kzf.3 CDKL3_uc011cxm.... Hybrid_Cap... view
CHD8 p.S156I 14 21896325 21896325 EM2_HAEMATOPOIE... 37 Missense_Mutation SNP C A uc001was.1 CHD8_uc001war.1... Hybrid_Cap... view
CLTCL1 p.V1201_splice 22 19189003 19189004 EM2_HAEMATOPOIE... 37 Splice_Site_Ins Ins - C rs11386977 uc002zpb.2 CLTCL1_uc011agv... Hybrid_Cap...
CLTCL1 22 19196673 19196674 EM2_HAEMATOPOIE... 37 Intron Ins - A uc002zpb.2 CLTCL1_uc011agv... Hybrid_Cap...
CTBP2 p.K974fs 10 126678123 126678123 EM2_HAEMATOPOIE... 37 Frame_Shift_Del Del T - uc001lie.3 CTBP2_uc009yak.... Hybrid_Cap...
CUBN p.D3492Y 10 16873305 16873305 EM2_HAEMATOPOIE... 37 Missense_Mutation SNP C A uc001ioo.2 Hybrid_Cap... view
CXCL12 10 44873992 44873993 EM2_HAEMATOPOIE... 37 Intron Ins - CT rs117617571 uc001jbh.2 CXCL12_uc001jbf... Hybrid_Cap...
DIP2C p.R379W 10 454880 454880 EM2_HAEMATOPOIE... 37 Missense_Mutation SNP G A uc001ifp.2 DIP2C_uc009xhj.... Hybrid_Cap... view
DLC1 p.V759F 8 12957571 12957571 EM2_HAEMATOPOIE... 37 Missense_Mutation SNP C A uc003wwm.2 DLC1_uc003wwk.1... Hybrid_Cap... view
DLC1 8 12990485 12990485 EM2_HAEMATOPOIE... 37 Intron SNP C A uc003wwm.2 DLC1_uc003wwk.1... Hybrid_Cap... view
DTX1 p.D573E 12 113534600 113534600 EM2_HAEMATOPOIE... 37 Missense_Mutation SNP C A uc001tuk.1 Hybrid_Cap... view
EGF p.V605I 4 110895947 110895947 EM2_HAEMATOPOIE... 37 Missense_Mutation SNP G A uc003hzy.3 EGF_uc011cfu.1_... Hybrid_Cap... view
FGFR1OP 6 167453519 167453520 EM2_HAEMATOPOIE... 37 3'UTR Ins - T rs115519488 uc003qvj.2 CCR6_uc003qvl.2... Hybrid_Cap...
FLI1 11 128638217 128638217 EM2_HAEMATOPOIE... 37 Intron Del G - uc010sbu.1 FLI1_uc010sbt.1... Hybrid_Cap...
GRIN2A p.G951V 16 9858549 9858549 EM2_HAEMATOPOIE... 37 Missense_Mutation SNP C A uc002czo.3 GRIN2A_uc010uym... Hybrid_Cap... view
GUCY2C 12 14827464 14827466 EM2_HAEMATOPOIE... 37 Intron Del ATC - rs72525754;rs3083879 uc001rcd.2 GUCY2C_uc009zhz... Hybrid_Cap...
HDAC2 p.81_82insS 6 114292109 114292110 EM2_HAEMATOPOIE... 37 In_Frame_Ins Ins - CTG uc003pwd.1 HDAC2_uc003pwc.... Hybrid_Cap...
HNRNPA2B1 p.G222V 7 26236050 26236050 EM2_HAEMATOPOIE... 37 Missense_Mutation SNP C A uc003sxr.3 HNRNPA2B1_uc003... Hybrid_Cap... view
ILK 11 6630029 6630029 EM2_HAEMATOPOIE... 37 Intron Del C - uc001mee.2 ILK_uc001mef.2_... Hybrid_Cap...
ITPR2 p.R470_splice 12 26834804 26834805 EM2_HAEMATOPOIE... 37 Splice_Site_Ins Ins - ACTC rs66696203;rs59199365 uc001rhg.2 Hybrid_Cap...
JAK1 p.K982T 1 65304170 65304170 EM2_HAEMATOPOIE... 37 Missense_Mutation SNP T G uc001dbu.1 JAK1_uc009wam.1... Hybrid_Cap... view
KLK7 19 51480672 51480675 EM2_HAEMATOPOIE... 37 3'UTR Del GGTT - uc002puo.2 KLK7_uc002pup.2... Hybrid_Cap...
MAML3 p.Q767_splice 4 140651585 140651587 EM2_HAEMATOPOIE... 37 Splice_Site_Del Del CTG - uc003ihz.1 MGST2_uc010ioi.... Hybrid_Cap...
MAP3K14 p.R218_splice 17 43364293 43364294 EM2_HAEMATOPOIE... 37 Splice_Site_Ins Ins - G rs66766023 uc002iiw.1 MAP3K14_uc010da... Hybrid_Cap...
MTOR p.G1491S 1 11210282 11210282 EM2_HAEMATOPOIE... 37 Missense_Mutation SNP C T uc001asd.2 Hybrid_Cap... view
MTUS2 p.R329N 13 29599791 29599792 EM2_HAEMATOPOIE... 37 Missense_Mutation DNP GA AT uc001usl.3 Hybrid_Cap...
MYLK2 p.M565T 20 30419923 30419923 EM2_HAEMATOPOIE... 37 Missense_Mutation SNP T C uc002wwq.2 MYLK2_uc002wws.... Hybrid_Cap... view
NCAM1 11 112832307 112832308 EM2_HAEMATOPOIE... 37 5'UTR Ins - A rs117108942 uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCAM1 11 112832340 112832340 EM2_HAEMATOPOIE... 37 5'UTR Del C - uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NEK3 p.K313_splice 13 52718050 52718051 EM2_HAEMATOPOIE... 37 Splice_Site_Ins Ins - T rs72514762 uc001vgh.2 NEK3_uc001vgg.2... Hybrid_Cap...
NFIA 1 61921185 61921186 EM2_HAEMATOPOIE... 37 3'UTR Ins - T rs57270124;rs76131997 uc010oos.1 NFIA_uc001czy.2... Hybrid_Cap...
NLRP6 p.S890P 11 285293 285293 EM2_HAEMATOPOIE... 37 Missense_Mutation SNP T C uc010qvs.1 NLRP6_uc010qvt.... Hybrid_Cap... view
NPR1 1 153665919 153665920 EM2_HAEMATOPOIE... 37 3'UTR Ins - C rs66682713 uc001fcs.3 NPR1_uc010pdz.1... Hybrid_Cap...
NR1H2 p.176_177insQ 19 50881820 50881821 EM2_HAEMATOPOIE... 37 In_Frame_Ins Ins - AAC rs66783852;rs112359270 uc010enw.2 NR1H2_uc002prv.... Hybrid_Cap...
NUP214 9 134067556 134067557 EM2_HAEMATOPOIE... 37 Intron Ins - T rs66652901 uc004cag.2 NUP214_uc004cah... Hybrid_Cap...
PCDH15 p.G1475V 10 55583083 55583083 EM2_HAEMATOPOIE... 37 Missense_Mutation SNP C A uc010qhy.1 PCDH15_uc010qhq... Hybrid_Cap... view
PDE4DIP p.Q1665fs 1 144873963 144873963 EM2_HAEMATOPOIE... 37 Frame_Shift_Del Del T - uc001elw.3 NBPF10_uc009wir... Hybrid_Cap...
PDE4DIP p.V486fs 1 144917828 144917828 EM2_HAEMATOPOIE... 37 Frame_Shift_Del Del A - uc001elw.3 NBPF10_uc009wir... Hybrid_Cap...
PDGFRA 4 55131002 55131002 EM2_HAEMATOPOIE... 37 Intron Del A - uc003han.3 PDGFRA_uc003haa... Hybrid_Cap...
PIK3C2G p.P129del 12 18435399 18435401 EM2_HAEMATOPOIE... 37 In_Frame_Del Del CCC - uc010sib.1 PIK3C2G_uc001rd... Hybrid_Cap...
PKHD1 p.V847M 6 51910855 51910855 EM2_HAEMATOPOIE... 37 Missense_Mutation SNP C T uc003pah.1 PKHD1_uc003pai.... Hybrid_Cap... view
PLK1 p.I296V 16 23695260 23695260 EM2_HAEMATOPOIE... 37 Missense_Mutation SNP A G uc002dlz.1 Hybrid_Cap... view
PMS1 2 190670539 190670540 EM2_HAEMATOPOIE... 37 Intron Ins - A rs3214425 uc002urh.3 PMS1_uc010zga.1... Hybrid_Cap...
PRKDC p.L1244fs 8 48805816 48805817 EM2_HAEMATOPOIE... 37 Frame_Shift_Ins Ins - G rs67588121 uc003xqi.2 PRKDC_uc003xqj.... Hybrid_Cap...
PXN p.K553T 12 120650235 120650235 EM2_HAEMATOPOIE... 37 Missense_Mutation SNP T G uc001txt.2 PXN_uc001txu.2_... Hybrid_Cap... view
RAP1GDS1 4 99363349 99363353 EM2_HAEMATOPOIE... 37 3'UTR Del TACCA - uc003htw.3 RAP1GDS1_uc003h... Hybrid_Cap...
RECQL4 p.R766fs 8 145738768 145738768 EM2_HAEMATOPOIE... 37 Frame_Shift_Del Del G - uc003zdj.2 Hybrid_Cap...
RPS6KL1 14 75373626 75373627 EM2_HAEMATOPOIE... 37 3'UTR Ins - TGAT uc001xqx.1 RPS6KL1_uc001xq... Hybrid_Cap...
STK25 2 242435659 242435662 EM2_HAEMATOPOIE... 37 Intron Del AAGG - rs3215138;rs75497042 uc002wbm.2 STK25_uc002wbk.... Hybrid_Cap...
STK31 7 23872024 23872025 EM2_HAEMATOPOIE... 37 3'UTR Ins - TTTG rs66787534 uc003sws.3 STK31_uc003swt.... Hybrid_Cap...
SULF2 p.P856H 20 46288158 46288158 EM2_HAEMATOPOIE... 37 Missense_Mutation SNP G T uc002xto.2 SULF2_uc002xtr.... Hybrid_Cap... view
TLK1 2 171850178 171850179 EM2_HAEMATOPOIE... 37 3'UTR Ins - AA rs71008739 uc002ugo.2 TLK1_uc002ugn.2... Hybrid_Cap...
TP53 p.R248Q 17 7577538 7577538 EM2_HAEMATOPOIE... 37 Missense_Mutation SNP C T rs11540652 uc002gim.2 TP53_uc002gig.1... Hybrid_Cap... view
TP63 3 189507518 189507519 EM2_HAEMATOPOIE... 37 Intron Ins - AG rs62702062;rs79714037 uc003fry.2 TP63_uc003frx.2... Hybrid_Cap...
TRPM6 9 77339430 77339430 EM2_HAEMATOPOIE... 37 3'UTR SNP G T uc004ajl.1 TRPM6_uc004ajk.... Hybrid_Cap... view
TTN p.P14989S 2 179472941 179472941 EM2_HAEMATOPOIE... 37 Missense_Mutation SNP G A uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
VEGFC p.S419_splice 4 177605082 177605084 EM2_HAEMATOPOIE... 37 Splice_Site_Del Del TCA - uc003ius.1 Hybrid_Cap...
ZAP70 p.M549V 2 98354479 98354479 EM2_HAEMATOPOIE... 37 Missense_Mutation SNP A G uc002syd.1 ZAP70_uc002sye.... Hybrid_Cap... view