Annotation Summary for Cell Line: ME-1  

Cell line primary name: ME-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: SILOS_p_NCLE_RNA9_HG-U133_Plus_2_C05_523542
SNP arrays: AWASH_p_NCLE_DNAAffy10_GenomeWideSNP_6_A07_542942
Oncomap: yes
Hybrid Capture Sequencing: yes


Mutations in ME-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 ME1_HAEMATOPOIE... 37 In_Frame_Del Del TGT - rs55712143 uc002sfp.2 AAK1_uc010fdk.2... Hybrid_Cap...
ADAM28 8 24211994 24211997 ME1_HAEMATOPOIE... 37 3'UTR Del CTAT - rs10610134 uc003xdy.2 ADAM28_uc011laa... Hybrid_Cap...
AGAP2 p.A10T 12 58135827 58135827 ME1_HAEMATOPOIE... 37 Missense_Mutation SNP C T uc001spr.2 TSPAN31_uc001sp... Hybrid_Cap... view
ALS2 2 202587706 202587707 ME1_HAEMATOPOIE... 37 Intron Ins - A rs3219165 uc002uyo.2 ALS2_uc002uyp.3... Hybrid_Cap...
ASPH p.A264_splice 8 62550924 62550925 ME1_HAEMATOPOIE... 37 Splice_Site_Ins Ins - A rs5891816 uc003xuj.2 ASPH_uc011leg.1... Hybrid_Cap...
AXL p.V150A 19 41727824 41727824 ME1_HAEMATOPOIE... 37 Missense_Mutation SNP T C uc010ehj.2 CYP2F1_uc010xvw... Hybrid_Cap... view
BTG1 12 92537706 92537707 ME1_HAEMATOPOIE... 37 3'UTR Ins - T rs33983967 uc001tby.3 BTG1_uc001tbv.1... Hybrid_Cap...
CACNB2 10 18828721 18828722 ME1_HAEMATOPOIE... 37 3'UTR Ins - AA rs3841459 uc001ipr.2 CACNB2_uc009xjz... Hybrid_Cap...
CARD10 p.KE272del 22 37906309 37906314 ME1_HAEMATOPOIE... 37 In_Frame_Del Del CTCCT... - uc003asx.1 CARD10_uc003ast... Hybrid_Cap...
CASP4 11 104820058 104820066 ME1_HAEMATOPOIE... 37 Intron Del TACTG... - uc001pid.1 CASP4_uc001pib.... Hybrid_Cap...
CDK11B 1 1654066 1654068 ME1_HAEMATOPOIE... 37 Intron Del GCG - uc001agv.1 CDK11B_uc001aha... Hybrid_Cap...
CDKL2 p.V304A 4 76523370 76523370 ME1_HAEMATOPOIE... 37 Missense_Mutation SNP A G uc011cbp.1 CDKL2_uc003hiq.... Hybrid_Cap... view
CFI p.D411H 4 110667600 110667600 ME1_HAEMATOPOIE... 37 Missense_Mutation SNP C G uc011cft.1 CFI_uc003hzq.2_... Hybrid_Cap... view
CHRNA5 15 78885615 78885616 ME1_HAEMATOPOIE... 37 3'UTR Ins - TA rs72534078 uc002bdy.2 CHRNA3_uc002bea... Hybrid_Cap...
CLTCL1 p.V1201_splice 22 19189003 19189004 ME1_HAEMATOPOIE... 37 Splice_Site_Ins Ins - C rs11386977 uc002zpb.2 CLTCL1_uc011agv... Hybrid_Cap...
CLTCL1 22 19196673 19196674 ME1_HAEMATOPOIE... 37 Intron Ins - A uc002zpb.2 CLTCL1_uc011agv... Hybrid_Cap...
CRKL 22 21272133 21272133 ME1_HAEMATOPOIE... 37 5'UTR SNP C G uc002ztf.2 CRKL_uc002ztg.1... Hybrid_Cap... view
CYP1A2 p.T438I 15 75047191 75047191 ME1_HAEMATOPOIE... 37 Missense_Mutation SNP C T rs45486893 uc002ayr.1 Hybrid_Cap... view
CYP1B1 2 38297654 38297655 ME1_HAEMATOPOIE... 37 3'UTR Ins - A rs9341258 uc002rqo.2 Hybrid_Cap...
DACH1 13 72014625 72014626 ME1_HAEMATOPOIE... 37 3'UTR Ins - T rs117109529 uc010thn.1 DACH1_uc010tho.... Hybrid_Cap...
DGKB 7 14216345 14216346 ME1_HAEMATOPOIE... 37 Intron Ins - AGACT uc003ssz.2 DGKB_uc011jxt.1... Hybrid_Cap...
EDN1 6 12290729 12290729 ME1_HAEMATOPOIE... 37 5'UTR Del A - uc003nae.3 EDN1_uc010jpb.2... Hybrid_Cap...
EPHA6 3 97367230 97367231 ME1_HAEMATOPOIE... 37 Intron Ins - A rs115253553 uc010how.1 EPHA6_uc003drs.... Hybrid_Cap...
EPHB6 p.V405V 7 142563827 142563827 ME1_HAEMATOPOIE... 37 Silent SNP C A uc011kst.1 EPHB6_uc011ksu.... Hybrid_Cap... view
ERBB3 p.R1118Q 12 56494996 56494996 ME1_HAEMATOPOIE... 37 Missense_Mutation SNP G A uc001sjh.2 ERBB3_uc009zoj.... Hybrid_Cap... view
ETV1 7 14028708 14028708 ME1_HAEMATOPOIE... 37 5'UTR Del A - rs77190713 uc011jxq.1 ETV1_uc011jxn.1... Hybrid_Cap...
FGFR1OP p.S351S 6 167447387 167447387 ME1_HAEMATOPOIE... 37 Silent SNP T C uc003qvj.2 CCR6_uc003qvl.2... Hybrid_Cap... view
FGFR1OP 6 167453519 167453520 ME1_HAEMATOPOIE... 37 3'UTR Ins - T rs115519488 uc003qvj.2 CCR6_uc003qvl.2... Hybrid_Cap...
FGFR3 4 1809128 1809129 ME1_HAEMATOPOIE... 37 3'UTR Del GT - uc003gdu.2 FGFR3_uc003gdr.... Hybrid_Cap...
FLI1 11 128638217 128638217 ME1_HAEMATOPOIE... 37 Intron Del G - uc010sbu.1 FLI1_uc010sbt.1... Hybrid_Cap...
FLT3 p.T820N 13 28592686 28592686 ME1_HAEMATOPOIE... 37 Missense_Mutation SNP G T uc001urw.2 FLT3_uc010aao.2... Hybrid_Cap... view
FN1 2 216244182 216244185 ME1_HAEMATOPOIE... 37 Intron Del GTAC - uc002vfa.2 FN1_uc002vfb.2_... Hybrid_Cap...
FOXP1 3 71008341 71008342 ME1_HAEMATOPOIE... 37 3'UTR Ins - T rs11433724;rs114233617 uc003dol.2 FOXP1_uc003dom.... Hybrid_Cap...
GPR112 p.D2657del X 135474445 135474447 ME1_HAEMATOPOIE... 37 In_Frame_Del Del GAT - rs3030295 uc004ezu.1 GPR112_uc010nsb... Hybrid_Cap...
GRIA3 X 122318386 122318387 ME1_HAEMATOPOIE... 37 Splice_Site_Ins Ins - G rs66632982 uc004etq.3 GRIA3_uc004etr.... Hybrid_Cap...
GUCY2C 12 14827464 14827466 ME1_HAEMATOPOIE... 37 Intron Del ATC - rs72525754;rs3083879 uc001rcd.2 GUCY2C_uc009zhz... Hybrid_Cap...
HDAC6 X 48664891 48664891 ME1_HAEMATOPOIE... 37 Intron SNP G A uc011mmi.1 HDAC6_uc004dks.... Hybrid_Cap... view
HECW1 7 43477886 43477886 ME1_HAEMATOPOIE... 37 Intron SNP A G uc003tid.1 HECW1_uc011kbi.... Hybrid_Cap... view
HIF1A 14 62213929 62213930 ME1_HAEMATOPOIE... 37 3'UTR Ins - T rs67890419 uc001xfs.2 HIF1A_uc001xfq.... Hybrid_Cap...
HNF1A 12 121434630 121434631 ME1_HAEMATOPOIE... 37 Intron Ins - TCATTCAT rs75100977 uc010szn.1 HNF1A_uc001tze.... Hybrid_Cap...
HSP90B1 p.E791del 12 104341188 104341190 ME1_HAEMATOPOIE... 37 In_Frame_Del Del GAA - rs117491163 uc001tkb.1 HSP90B1_uc010sw... Hybrid_Cap...
ILK 11 6630029 6630029 ME1_HAEMATOPOIE... 37 Intron Del C - uc001mee.2 ILK_uc001mef.2_... Hybrid_Cap...
ITPR2 p.R470_splice 12 26834804 26834805 ME1_HAEMATOPOIE... 37 Splice_Site_Ins Ins - ACTC rs66696203;rs59199365 uc001rhg.2 Hybrid_Cap...
KLK7 19 51480672 51480675 ME1_HAEMATOPOIE... 37 3'UTR Del GGTT - uc002puo.2 KLK7_uc002pup.2... Hybrid_Cap...
LRP1B p.T1305K 2 141643757 141643757 ME1_HAEMATOPOIE... 37 Missense_Mutation SNP G T uc002tvj.1 LRP1B_uc010fnl.... Hybrid_Cap... view
MAF 16 79628537 79628537 ME1_HAEMATOPOIE... 37 Intron Del T - uc002ffm.2 MAF_uc002ffn.2_... Hybrid_Cap...
MAML3 p.Q767_splice 4 140651585 140651587 ME1_HAEMATOPOIE... 37 Splice_Site_Del Del CTG - uc003ihz.1 MGST2_uc010ioi.... Hybrid_Cap...
MAP3K1 p.T949del 5 56177849 56177851 ME1_HAEMATOPOIE... 37 In_Frame_Del Del CAA - uc003jqw.3 Hybrid_Cap...
MAP3K14 p.R218_splice 17 43364293 43364294 ME1_HAEMATOPOIE... 37 Splice_Site_Ins Ins - G rs66766023 uc002iiw.1 MAP3K14_uc010da... Hybrid_Cap...
MAPKBP1 15 42111753 42111754 ME1_HAEMATOPOIE... 37 Intron Ins - C rs3034891 uc001zok.3 MAPKBP1_uc001zo... Hybrid_Cap...
MLLT6 17 36881873 36881873 ME1_HAEMATOPOIE... 37 3'UTR Del C - uc002hqi.3 MLLT6_uc002hqk.... Hybrid_Cap...
MYH9 p.E1653D 22 36682866 36682866 ME1_HAEMATOPOIE... 37 Missense_Mutation SNP C G uc003apg.2 Hybrid_Cap... view
MYO3A p.N723I 10 26417373 26417373 ME1_HAEMATOPOIE... 37 Missense_Mutation SNP A T uc001isn.2 MYO3A_uc009xko.... Hybrid_Cap... view
NCAM1 11 112832307 112832308 ME1_HAEMATOPOIE... 37 5'UTR Ins - A rs117108942 uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCAM1 11 112832340 112832340 ME1_HAEMATOPOIE... 37 5'UTR Del C - uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCOA3 p.Q1276del 20 46279837 46279839 ME1_HAEMATOPOIE... 37 In_Frame_Del Del CAG - rs2664555 uc002xtk.2 NCOA3_uc010ght.... Hybrid_Cap...
NEK11 p.Y198C 3 130852746 130852746 ME1_HAEMATOPOIE... 37 Missense_Mutation SNP A G uc003eny.2 NEK11_uc003enx.... Hybrid_Cap... view
NEK3 p.K313_splice 13 52718050 52718051 ME1_HAEMATOPOIE... 37 Splice_Site_Ins Ins - T rs72514762 uc001vgh.2 NEK3_uc001vgg.2... Hybrid_Cap...
NFIA 1 61921185 61921186 ME1_HAEMATOPOIE... 37 3'UTR Ins - T rs57270124;rs76131997 uc010oos.1 NFIA_uc001czy.2... Hybrid_Cap...
NOTCH4 p.15_16LL>L 6 32191659 32191661 ME1_HAEMATOPOIE... 37 In_Frame_Del Del AGC - uc003obb.2 NOTCH4_uc011dpu... Hybrid_Cap...
NPM1 5 170837734 170837734 ME1_HAEMATOPOIE... 37 3'UTR Del T - uc011dex.1 NPM1_uc003mbi.2... Hybrid_Cap...
NPR1 1 153665919 153665920 ME1_HAEMATOPOIE... 37 3'UTR Ins - C rs66682713 uc001fcs.3 NPR1_uc010pdz.1... Hybrid_Cap...
NPRL2 3 50384978 50384978 ME1_HAEMATOPOIE... 37 3'UTR Del C - rs75013672 uc003daj.1 ZMYND10_uc003da... Hybrid_Cap...
NR1H2 p.176_177insQ 19 50881820 50881821 ME1_HAEMATOPOIE... 37 In_Frame_Ins Ins - AAC rs66783852;rs112359270 uc010enw.2 NR1H2_uc002prv.... Hybrid_Cap...
NRAS p.Q61H 1 115256528 115256528 ME1_HAEMATOPOIE... 37 Missense_Mutation SNP T A uc009wgu.2 Hybrid_Cap... view
NSD1 p.P2075Q 5 176715892 176715892 ME1_HAEMATOPOIE... 37 Missense_Mutation SNP C A uc003mfr.3 NSD1_uc003mft.3... Hybrid_Cap... view
PAX3 2 223066017 223066018 ME1_HAEMATOPOIE... 37 Intron Ins - C rs115619343 uc002vmt.1 PAX3_uc002vmy.1... Hybrid_Cap...
PAX3 2 223158653 223158653 ME1_HAEMATOPOIE... 37 Intron Del T - rs112753212 uc002vmt.1 PAX3_uc002vmy.1... Hybrid_Cap...
PGR 11 100933598 100933599 ME1_HAEMATOPOIE... 37 Intron Ins - AATGA rs35148438 uc001pgh.2 PGR_uc001pgg.2_... Hybrid_Cap...
PIK3C2G p.P129del 12 18435399 18435401 ME1_HAEMATOPOIE... 37 In_Frame_Del Del CCC - uc010sib.1 PIK3C2G_uc001rd... Hybrid_Cap...
PLCG2 16 81954996 81954997 ME1_HAEMATOPOIE... 37 Intron Ins - T uc002fgt.2 PLCG2_uc010chg.... Hybrid_Cap...
PRKDC p.L1244fs 8 48805816 48805817 ME1_HAEMATOPOIE... 37 Frame_Shift_Ins Ins - G rs67588121 uc003xqi.2 PRKDC_uc003xqj.... Hybrid_Cap...
PTCH1 p.R1113S 9 98215872 98215872 ME1_HAEMATOPOIE... 37 Missense_Mutation SNP G T uc004avk.3 PTCH1_uc010mro.... Hybrid_Cap... view
RAPGEF2 4 160189200 160189201 ME1_HAEMATOPOIE... 37 5'UTR Ins - T rs72011511 uc003iqg.3 Hybrid_Cap...
RECQL4 p.R766fs 8 145738768 145738768 ME1_HAEMATOPOIE... 37 Frame_Shift_Del Del G - uc003zdj.2 Hybrid_Cap...
SLC45A3 p.222_234ALGPTEPAEGLSA>A 1 205632218 205632253 ME1_HAEMATOPOIE... 37 In_Frame_Del Del GCCGA... - uc001hda.1 SLC45A3_uc010pr... Hybrid_Cap...
SSU72 1 1477324 1477325 ME1_HAEMATOPOIE... 37 3'UTR Del CA - rs72502747 uc001agd.2 C1orf70_uc009vk... Hybrid_Cap...
STK19 p.A19T 6 31939828 31939828 ME1_HAEMATOPOIE... 37 Missense_Mutation SNP G A uc003nyv.2 DOM3Z_uc003nyo.... Hybrid_Cap... view
STK31 7 23872024 23872025 ME1_HAEMATOPOIE... 37 3'UTR Ins - TTTG rs66787534 uc003sws.3 STK31_uc003swt.... Hybrid_Cap...
TEC 4 48139307 48139310 ME1_HAEMATOPOIE... 37 3'UTR Del TTAT - rs79098351 uc003gxz.2 Hybrid_Cap...
TGFB2 1 218519928 218519929 ME1_HAEMATOPOIE... 37 5'UTR Ins - AAAC uc001hln.2 TGFB2_uc001hll.... Hybrid_Cap...
TMEM123 11 102269398 102269398 ME1_HAEMATOPOIE... 37 3'UTR Del G - uc001pha.2 TMEM123_uc009yx... Hybrid_Cap...
TNFRSF13B p.P35fs 17 16855854 16855854 ME1_HAEMATOPOIE... 37 Frame_Shift_Del Del G - uc002gqs.1 TNFRSF13B_uc010... Hybrid_Cap...
TNFRSF1A p.V154M 12 6442545 6442545 ME1_HAEMATOPOIE... 37 Missense_Mutation SNP C T uc001qnu.2 TNFRSF1A_uc001q... Hybrid_Cap... view
TTN 2 179391639 179391640 ME1_HAEMATOPOIE... 37 3'UTR Ins - T rs36037175 uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap...
UBE3B 12 109947357 109947358 ME1_HAEMATOPOIE... 37 Intron Ins - T uc001top.2 UBE3B_uc001toq.... Hybrid_Cap...
VEGFA 6 43752346 43752346 ME1_HAEMATOPOIE... 37 3'UTR SNP C A uc003owh.2 VEGFA_uc003owd.... Hybrid_Cap... view
VEGFC p.S419_splice 4 177605082 177605084 ME1_HAEMATOPOIE... 37 Splice_Site_Del Del TCA - uc003ius.1 Hybrid_Cap...
WT1 p.R495Q 11 32410674 32410674 ME1_HAEMATOPOIE... 37 Missense_Mutation SNP C T uc001mtn.1 WT1_uc001mtl.1_... Hybrid_Cap... view
ZBTB16 11 114121378 114121378 ME1_HAEMATOPOIE... 37 3'UTR SNP A G uc001pop.2 ZBTB16_uc001poq... Hybrid_Cap... view