Annotation Summary for Cell Line: HEL  

Cell line primary name: HEL
Cell line aliases:
Gender: M
Site Primary: haematopoietic_and_lymphoid_tissue
Histology: haematopoietic_neoplasm
Hist Subtype1: acute_myeloid_leukaemia
Notes: Identical lines: HEL 92.1.7 is a subclone of HEL
Source: DSMZ
Expression arrays: BITTS_p_NCLE_RNA12_HG-U133_Plus_2_B04_698780
SNP arrays: VAULT_p_NCLE_DNAAffy14_GenomeWideSNP_6_C09_698706
Oncomap: yes
Hybrid Capture Sequencing: yes


Mutations in HEL

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 HEL_HAEMATOPOIE... 37 In_Frame_Del Del TGT - rs55712143 uc002sfp.2 AAK1_uc010fdk.2... Hybrid_Cap...
ADAM28 8 24211994 24211997 HEL_HAEMATOPOIE... 37 3'UTR Del CTAT - rs10610134 uc003xdy.2 ADAM28_uc011laa... Hybrid_Cap...
AKAP9 p.1335_1336insQ 7 91652178 91652179 HEL_HAEMATOPOIE... 37 In_Frame_Ins Ins - AAC rs34756483 uc003ulg.2 AKAP9_uc003ule.... Hybrid_Cap...
ALPK1 4 113347609 113347610 HEL_HAEMATOPOIE... 37 Intron Ins - T rs68137453 uc003iap.3 ALPK1_uc003ian.... Hybrid_Cap...
ALPK2 p.1388_1389FF>F 18 56203253 56203255 HEL_HAEMATOPOIE... 37 In_Frame_Del Del AAG - uc002lhj.3 ALPK2_uc002lhk.... Hybrid_Cap...
AMZ2 p.F209L 17 66250583 66250583 HEL_HAEMATOPOIE... 37 Missense_Mutation SNP T C uc002jgs.1 AMZ2_uc002jgr.1... Hybrid_Cap... view
APC p.N862K 5 112173877 112173877 HEL_HAEMATOPOIE... 37 Missense_Mutation SNP C G uc010jby.2 APC_uc011cvt.1_... Hybrid_Cap... view
ARHGEF12 p.D308Y 11 120302618 120302618 HEL_HAEMATOPOIE... 37 Missense_Mutation SNP G T uc001pxl.1 ARHGEF12_uc009z... Hybrid_Cap... view
ASPH p.A264_splice 8 62550924 62550925 HEL_HAEMATOPOIE... 37 Splice_Site_Ins Ins - A rs5891816 uc003xuj.2 ASPH_uc011leg.1... Hybrid_Cap...
BCR 22 23631813 23631814 HEL_HAEMATOPOIE... 37 Intron Ins - C rs66503844 uc002zww.2 BCR_uc002zwx.2_... Hybrid_Cap...
BMP4 14 54416600 54416600 HEL_HAEMATOPOIE... 37 3'UTR Del C - rs115689554 uc001xal.3 BMP4_uc010aoh.2... Hybrid_Cap...
BMP4 14 54416601 54416602 HEL_HAEMATOPOIE... 37 3'UTR Del CT - rs74495140;rs76335800 uc001xal.3 BMP4_uc010aoh.2... Hybrid_Cap...
C15ORF2 p.D304N 15 24921924 24921924 HEL_HAEMATOPOIE... 37 Missense_Mutation SNP G A uc001ywo.2 Hybrid_Cap... view
C6ORF97 p.S658L 6 151939107 151939107 HEL_HAEMATOPOIE... 37 Missense_Mutation SNP C T uc003qol.2 Hybrid_Cap... view
CABC1 1 227171585 227171585 HEL_HAEMATOPOIE... 37 Intron Del T - uc001hqm.1 CABC1_uc001hqn.... Hybrid_Cap...
CACNB2 10 18828721 18828722 HEL_HAEMATOPOIE... 37 3'UTR Ins - AA rs3841459 uc001ipr.2 CACNB2_uc009xjz... Hybrid_Cap...
CASP9 p.G402A 1 15819484 15819484 HEL_HAEMATOPOIE... 37 Missense_Mutation SNP C G uc001awn.2 CASP9_uc001awm.... Hybrid_Cap... view
CDC42BPA p.A19S 1 227504829 227504829 HEL_HAEMATOPOIE... 37 Missense_Mutation SNP C A uc001hqr.2 CDC42BPA_uc001h... Hybrid_Cap... view
CDK11B 1 1654066 1654068 HEL_HAEMATOPOIE... 37 Intron Del GCG - uc001agv.1 CDK11B_uc001aha... Hybrid_Cap...
CHD1 p.P1684del 5 98192165 98192167 HEL_HAEMATOPOIE... 37 In_Frame_Del Del AGG - rs79267787;rs61749618 uc003knf.2 CHD1_uc010jbn.2... Hybrid_Cap...
CHL1 p.L427V 3 402080 402080 HEL_HAEMATOPOIE... 37 Missense_Mutation SNP C G uc003bot.2 CHL1_uc003bou.2... Hybrid_Cap... view
CLTCL1 p.V1201_splice 22 19189003 19189004 HEL_HAEMATOPOIE... 37 Splice_Site_Ins Ins - C rs11386977 uc002zpb.2 CLTCL1_uc011agv... Hybrid_Cap...
CTBP2 p.K974fs 10 126678123 126678123 HEL_HAEMATOPOIE... 37 Frame_Shift_Del Del T - uc001lie.3 CTBP2_uc009yak.... Hybrid_Cap...
CYP27B1 p.I198V 12 58158992 58158992 HEL_HAEMATOPOIE... 37 Missense_Mutation SNP T C uc001spz.1 CYP27B1_uc001sq... Hybrid_Cap... view
DACH1 13 72014625 72014626 HEL_HAEMATOPOIE... 37 3'UTR Ins - T rs117109529 uc010thn.1 DACH1_uc010tho.... Hybrid_Cap...
DNAH8 6 38952246 38952247 HEL_HAEMATOPOIE... 37 Intron Ins - CA rs34819199 uc003ooe.1 DNAH8_uc003oog.... Hybrid_Cap...
EIF4E 4 99808137 99808141 HEL_HAEMATOPOIE... 37 Intron Del TTAAA - uc011ceb.1 EIF4E_uc011cea.... Hybrid_Cap...
EP300 22 41574970 41574972 HEL_HAEMATOPOIE... 37 3'UTR Del GTA - rs76489032 uc003azl.3 Hybrid_Cap...
EPHA6 3 97467610 97467611 HEL_HAEMATOPOIE... 37 3'UTR Ins - CT uc010how.1 Hybrid_Cap...
ETV1 7 14028708 14028708 HEL_HAEMATOPOIE... 37 5'UTR Del A - rs77190713 uc011jxq.1 ETV1_uc011jxn.1... Hybrid_Cap...
FGFR1OP 6 167453519 167453520 HEL_HAEMATOPOIE... 37 3'UTR Ins - T rs115519488 uc003qvj.2 CCR6_uc003qvl.2... Hybrid_Cap...
FGFR3 4 1809128 1809129 HEL_HAEMATOPOIE... 37 3'UTR Del GT - uc003gdu.2 FGFR3_uc003gdr.... Hybrid_Cap...
FLI1 11 128638217 128638217 HEL_HAEMATOPOIE... 37 Intron Del G - uc010sbu.1 FLI1_uc010sbt.1... Hybrid_Cap...
FN1 2 216244182 216244185 HEL_HAEMATOPOIE... 37 Intron Del GTAC - uc002vfa.2 FN1_uc002vfb.2_... Hybrid_Cap...
GATA2 3 128199782 128199782 HEL_HAEMATOPOIE... 37 3'UTR SNP G A uc003ekm.3 GATA2_uc003ekn.... Hybrid_Cap... view
GPR112 p.D2657del X 135474445 135474447 HEL_HAEMATOPOIE... 37 In_Frame_Del Del GAT - rs3030295 uc004ezu.1 GPR112_uc010nsb... Hybrid_Cap...
GRIA3 X 122318386 122318387 HEL_HAEMATOPOIE... 37 Splice_Site_Ins Ins - G rs66632982 uc004etq.3 GRIA3_uc004etr.... Hybrid_Cap...
GUCY2C 12 14827464 14827466 HEL_HAEMATOPOIE... 37 Intron Del ATC - rs72525754;rs3083879 uc001rcd.2 GUCY2C_uc009zhz... Hybrid_Cap...
ILK 11 6630029 6630029 HEL_HAEMATOPOIE... 37 Intron Del C - uc001mee.2 ILK_uc001mef.2_... Hybrid_Cap...
ITPR2 p.R470_splice 12 26834804 26834805 HEL_HAEMATOPOIE... 37 Splice_Site_Ins Ins - ACTC rs66696203;rs59199365 uc001rhg.2 Hybrid_Cap...
JAK2 p.V617F 9 5073770 5073770 HEL_HAEMATOPOIE... 37 Missense_Mutation SNP G T rs77375493 uc010mhm.2 JAK2_uc003ziw.2... Hybrid_Cap... view
KLK3 p.R201L 19 51361823 51361823 HEL_HAEMATOPOIE... 37 Missense_Mutation SNP G T uc002pts.1 KLK3_uc010ycj.1... Hybrid_Cap... view
LRP2 p.T2086S 2 170068502 170068502 HEL_HAEMATOPOIE... 37 Missense_Mutation SNP T A uc002ues.2 Hybrid_Cap... view
MAML2 p.604_607QQQQ>Q 11 95825375 95825383 HEL_HAEMATOPOIE... 37 In_Frame_Del Del TGCTG... - rs113349418 uc001pfw.1 Hybrid_Cap...
MAML3 p.Q767_splice 4 140651585 140651587 HEL_HAEMATOPOIE... 37 Splice_Site_Del Del CTG - uc003ihz.1 MGST2_uc010ioi.... Hybrid_Cap...
MAP2K1 15 66679649 66679650 HEL_HAEMATOPOIE... 37 5'UTR Ins - C rs67229745 uc010bhq.2 Hybrid_Cap...
MAP3K7 p.S328T 6 91257863 91257863 HEL_HAEMATOPOIE... 37 Missense_Mutation SNP C G uc003pnz.1 MAP3K7_uc003poa... Hybrid_Cap... view
MAPKBP1 15 42111746 42111746 HEL_HAEMATOPOIE... 37 Intron Del G - uc001zok.3 MAPKBP1_uc001zo... Hybrid_Cap...
MCM3AP p.S493N 21 47700455 47700455 HEL_HAEMATOPOIE... 37 Missense_Mutation SNP C T uc002zir.1 Hybrid_Cap... view
MLL3 p.Y816fs 7 151945071 151945072 HEL_HAEMATOPOIE... 37 Frame_Shift_Ins Ins - T uc003wla.2 Hybrid_Cap...
MSH3 p.PPA66del 5 79950742 79950750 HEL_HAEMATOPOIE... 37 In_Frame_Del Del CCCCC... - rs60484572;rs1047489 uc003kgz.2 DHFR_uc011ctl.1... Hybrid_Cap...
MUSK 9 113431167 113431167 HEL_HAEMATOPOIE... 37 5'UTR SNP C T uc004bey.2 MUSK_uc004bex.2... Hybrid_Cap... view
MYST4 p.E1104del 10 76781906 76781908 HEL_HAEMATOPOIE... 37 In_Frame_Del Del GAA - rs79644703 uc001jwn.1 MYST4_uc001jwm.... Hybrid_Cap...
NCAM1 11 112832307 112832308 HEL_HAEMATOPOIE... 37 5'UTR Ins - A rs117108942 uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCAM1 11 112832340 112832340 HEL_HAEMATOPOIE... 37 5'UTR Del C - uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCOA3 p.Q1276del 20 46279864 46279866 HEL_HAEMATOPOIE... 37 In_Frame_Del Del CAA - rs1132443;rs28529067 uc002xtk.2 NCOA3_uc010ght.... Hybrid_Cap...
NEK3 p.K313_splice 13 52718050 52718051 HEL_HAEMATOPOIE... 37 Splice_Site_Ins Ins - T rs72514762 uc001vgh.2 NEK3_uc001vgg.2... Hybrid_Cap...
NR1H2 p.176_177insQ 19 50881820 50881821 HEL_HAEMATOPOIE... 37 In_Frame_Ins Ins - AAC rs66783852;rs112359270 uc010enw.2 NR1H2_uc002prv.... Hybrid_Cap...
NR1H2 p.176_177insQ 19 50881822 50881823 HEL_HAEMATOPOIE... 37 In_Frame_Ins Ins - CAG rs61751954;rs1052533 uc010enw.2 NR1H2_uc002prv.... Hybrid_Cap...
PASK p.G1311fs 2 242046041 242046042 HEL_HAEMATOPOIE... 37 Frame_Shift_Ins Ins - C uc010fzl.1 PASK_uc010zol.1... Hybrid_Cap...
PAX3 2 223158653 223158653 HEL_HAEMATOPOIE... 37 Intron Del T - rs112753212 uc002vmt.1 PAX3_uc002vmy.1... Hybrid_Cap...
PCM1 p.S2010C 8 17883147 17883147 HEL_HAEMATOPOIE... 37 Missense_Mutation SNP C G rs1130732 uc003wyi.3 PCM1_uc011kyh.1... Hybrid_Cap... view
PHF3 p.N99S 6 64389952 64389952 HEL_HAEMATOPOIE... 37 Missense_Mutation SNP A G uc003pep.1 PHF3_uc010kaf.1... Hybrid_Cap... view
PPP3R1 p.F15_splice 2 68415824 68415824 HEL_HAEMATOPOIE... 37 Splice_Site_SNP SNP T A uc002sei.1 Hybrid_Cap... view
PRKCE p.P507A 2 46313428 46313428 HEL_HAEMATOPOIE... 37 Missense_Mutation SNP C G uc002rut.2 Hybrid_Cap... view
PRKD3 2 37480319 37480320 HEL_HAEMATOPOIE... 37 Stop_Codon_Ins Ins - T rs79875666 uc002rqd.2 Hybrid_Cap...
PRKDC p.L1244fs 8 48805816 48805817 HEL_HAEMATOPOIE... 37 Frame_Shift_Ins Ins - G rs67588121 uc003xqi.2 PRKDC_uc003xqj.... Hybrid_Cap...
RECQL4 p.R766fs 8 145738768 145738768 HEL_HAEMATOPOIE... 37 Frame_Shift_Del Del G - uc003zdj.2 Hybrid_Cap...
RNASEL p.I636_splice 1 182545526 182545526 HEL_HAEMATOPOIE... 37 Splice_Site_SNP SNP T A uc001gpj.1 RNASEL_uc009wxz... Hybrid_Cap... view
RPS6KL1 14 75373626 75373627 HEL_HAEMATOPOIE... 37 3'UTR Ins - TGAT uc001xqx.1 RPS6KL1_uc001xq... Hybrid_Cap...
SET 9 131457103 131457103 HEL_HAEMATOPOIE... 37 3'UTR SNP T C uc004bvt.3 SET_uc004bvu.3_... Hybrid_Cap... view
STAT1 2 191840353 191840353 HEL_HAEMATOPOIE... 37 Intron Del T - uc002usj.2 STAT1_uc010fse.... Hybrid_Cap...
STK25 2 242435659 242435662 HEL_HAEMATOPOIE... 37 Intron Del AAGG - rs3215138;rs75497042 uc002wbm.2 STK25_uc002wbk.... Hybrid_Cap...
STK25 2 242438899 242438899 HEL_HAEMATOPOIE... 37 Intron SNP G C uc002wbm.2 STK25_uc002wbk.... Hybrid_Cap... view
STK31 7 23872024 23872025 HEL_HAEMATOPOIE... 37 3'UTR Ins - TTTG rs66787534 uc003sws.3 STK31_uc003swt.... Hybrid_Cap...
TEC 4 48139307 48139310 HEL_HAEMATOPOIE... 37 3'UTR Del TTAT - rs79098351 uc003gxz.2 Hybrid_Cap...
TMEM123 11 102269398 102269398 HEL_HAEMATOPOIE... 37 3'UTR Del G - uc001pha.2 TMEM123_uc009yx... Hybrid_Cap...
TMEM123 11 102269461 102269461 HEL_HAEMATOPOIE... 37 3'UTR Del G - uc001pha.2 TMEM123_uc009yx... Hybrid_Cap...
TNKS2 10 93622951 93622959 HEL_HAEMATOPOIE... 37 3'UTR Del GTTTT... - rs115539654 uc001khp.2 Hybrid_Cap...
TNRC6B p.Q1328del 22 40697177 40697179 HEL_HAEMATOPOIE... 37 In_Frame_Del Del GCA - rs114291931 uc011aor.1 TNRC6B_uc003aym... Hybrid_Cap...
TP53 p.M133K 17 7578532 7578532 HEL_HAEMATOPOIE... 37 Missense_Mutation SNP A T rs28934873 uc002gim.2 TP53_uc002gig.1... Hybrid_Cap... view
TP63 3 189507518 189507519 HEL_HAEMATOPOIE... 37 Intron Ins - AGAG rs62702062;rs79714037 uc003fry.2 TP63_uc003frx.2... Hybrid_Cap...
TP63 p.E636Q 3 189612154 189612154 HEL_HAEMATOPOIE... 37 Missense_Mutation SNP G C uc003fry.2 TP63_uc003frz.2... Hybrid_Cap... view
TRPS1 8 116635872 116635873 HEL_HAEMATOPOIE... 37 5'UTR Ins - A rs76893349 uc003yny.2 TRPS1_uc011lhy.... Hybrid_Cap...
TTN p.V24147A 2 179430714 179430715 HEL_HAEMATOPOIE... 37 Missense_Mutation DNP GA TG uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap...
VEGFC p.S419_splice 4 177605082 177605084 HEL_HAEMATOPOIE... 37 Splice_Site_Del Del TCA - uc003ius.1 Hybrid_Cap...
VPS13B p.Y1164H 8 100479686 100479686 HEL_HAEMATOPOIE... 37 Missense_Mutation SNP T C uc003yiv.2 VPS13B_uc003yiw... Hybrid_Cap... view
ZFYVE9 1 52729616 52729616 HEL_HAEMATOPOIE... 37 Intron SNP T C uc001cto.2 ZFYVE9_uc001ctn... Hybrid_Cap... view