Annotation Summary for Cell Line: GDM-1  

Cell line primary name: GDM-1
Cell line aliases:
Gender: F
Site Primary: haematopoietic_and_lymphoid_tissue
Histology: haematopoietic_neoplasm
Hist Subtype1: acute_myeloid_leukaemia
Notes:
Source: ATCC
Expression arrays: CASED_p_NCLE_RNA4_HG-U133_Plus_2_E01_383664
SNP arrays: FIEFS_p_NCLE_DNA_Affy5_GenomeWideSNP_6_B09_410896
Oncomap: yes
Hybrid Capture Sequencing: yes


Mutations in GDM-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 GDM1_HAEMATOPOI... 37 In_Frame_Del Del TGT - rs55712143 uc002sfp.2 AAK1_uc010fdk.2... Hybrid_Cap...
ABCA3 p.A54T 16 2376170 2376170 GDM1_HAEMATOPOI... 37 Missense_Mutation SNP C T uc002cpy.1 ABCA3_uc010bsk.... Hybrid_Cap... view
ADAM17 2 9630245 9630245 GDM1_HAEMATOPOI... 37 3'UTR Del T - uc002qzu.2 IAH1_uc010yiz.1... Hybrid_Cap...
ADAM28 8 24211994 24211997 GDM1_HAEMATOPOI... 37 3'UTR Del CTAT - rs10610134 uc003xdy.2 ADAM28_uc011laa... Hybrid_Cap...
ADAM29 p.L691del 4 175898744 175898746 GDM1_HAEMATOPOI... 37 In_Frame_Del Del TTA - uc003iuc.2 ADAM29_uc003iud... Hybrid_Cap...
AKAP12 p.1531_1532insE 6 151674116 151674117 GDM1_HAEMATOPOI... 37 In_Frame_Ins Ins - GAG rs34737819 uc011eep.1 AKAP12_uc003qoe... Hybrid_Cap...
AKAP9 p.1335_1336insQ 7 91652178 91652179 GDM1_HAEMATOPOI... 37 In_Frame_Ins Ins - AAC rs34756483 uc003ulg.2 AKAP9_uc003ule.... Hybrid_Cap...
AKT2 19 40771242 40771242 GDM1_HAEMATOPOI... 37 5'UTR SNP C T uc002onf.2 AKT2_uc010egs.2... Hybrid_Cap... view
ALPK1 4 113347609 113347610 GDM1_HAEMATOPOI... 37 Intron Ins - T rs68137453 uc003iap.3 ALPK1_uc003ian.... Hybrid_Cap...
ALPK1 p.A331T 4 113351694 113351694 GDM1_HAEMATOPOI... 37 Missense_Mutation SNP G A uc003iap.3 ALPK1_uc003ian.... Hybrid_Cap... view
ARNT p.Q162H 1 150811917 150811917 GDM1_HAEMATOPOI... 37 Missense_Mutation SNP C A uc001evr.1 ARNT_uc001evs.1... Hybrid_Cap... view
AXIN2 17 63525941 63525941 GDM1_HAEMATOPOI... 37 3'UTR SNP C A uc002jfi.2 AXIN2_uc002jfh.... Hybrid_Cap... view
BAX p.T167M 19 49464814 49464814 GDM1_HAEMATOPOI... 37 Missense_Mutation SNP C T uc002plk.2 BAX_uc010xzx.1_... Hybrid_Cap... view
BCR 22 23631813 23631814 GDM1_HAEMATOPOI... 37 Intron Ins - C rs66503844 uc002zww.2 BCR_uc002zwx.2_... Hybrid_Cap...
CACNB2 10 18828721 18828722 GDM1_HAEMATOPOI... 37 3'UTR Ins - AA rs3841459 uc001ipr.2 CACNB2_uc009xjz... Hybrid_Cap...
CBL p.R420Q 11 119149251 119149251 GDM1_HAEMATOPOI... 37 Missense_Mutation SNP G A uc001pwe.2 Hybrid_Cap... view
CEBPA 19 33792195 33792195 GDM1_HAEMATOPOI... 37 3'UTR SNP C T uc002nun.2 LOC80054_uc002n... Hybrid_Cap... view
CHD1 p.P1684del 5 98192165 98192167 GDM1_HAEMATOPOI... 37 In_Frame_Del Del AGG - rs79267787;rs61749618 uc003knf.2 CHD1_uc010jbn.2... Hybrid_Cap...
CLTCL1 p.V1201_splice 22 19189003 19189004 GDM1_HAEMATOPOI... 37 Splice_Site_Ins Ins - C rs11386977 uc002zpb.2 CLTCL1_uc011agv... Hybrid_Cap...
CSF1R p.Y571D 5 149441328 149441328 GDM1_HAEMATOPOI... 37 Missense_Mutation SNP A C uc003lrl.2 CSF1R_uc011dcd.... Hybrid_Cap... view
DDR2 p.R680C 1 162745623 162745623 GDM1_HAEMATOPOI... 37 Missense_Mutation SNP C T uc001gcf.2 DDR2_uc001gcg.2... Hybrid_Cap... view
DIP2C p.T1133A 10 390805 390805 GDM1_HAEMATOPOI... 37 Missense_Mutation SNP T C uc001ifp.2 DIP2C_uc009xhi.... Hybrid_Cap... view
DNAH8 6 38952247 38952250 GDM1_HAEMATOPOI... 37 Intron Del CACA - uc003ooe.1 DNAH8_uc003oog.... Hybrid_Cap...
EIF4E 4 99808137 99808141 GDM1_HAEMATOPOI... 37 Intron Del TTAAA - uc011ceb.1 EIF4E_uc011cea.... Hybrid_Cap...
EP300 22 41574970 41574972 GDM1_HAEMATOPOI... 37 3'UTR Del GTA - rs76489032 uc003azl.3 Hybrid_Cap...
EPHA6 3 97367230 97367231 GDM1_HAEMATOPOI... 37 Intron Ins - A rs115253553 uc010how.1 EPHA6_uc003drs.... Hybrid_Cap...
ERG p.D352N 21 39755732 39755732 GDM1_HAEMATOPOI... 37 Missense_Mutation SNP C T uc010gnw.2 ERG_uc002yxa.2_... Hybrid_Cap... view
ERN2 p.L33F 16 23724556 23724556 GDM1_HAEMATOPOI... 37 Missense_Mutation SNP G A uc002dma.3 ERN2_uc010bxp.2... Hybrid_Cap... view
ETV1 7 14028708 14028708 GDM1_HAEMATOPOI... 37 5'UTR Del A - rs77190713 uc011jxq.1 ETV1_uc011jxn.1... Hybrid_Cap...
FANCI p.L619Q 15 89833478 89833478 GDM1_HAEMATOPOI... 37 Missense_Mutation SNP T A uc010bnp.1 FANCI_uc002bnm.... Hybrid_Cap... view
FGFR1OP 6 167453519 167453520 GDM1_HAEMATOPOI... 37 3'UTR Ins - T rs115519488 uc003qvj.2 CCR6_uc003qvl.2... Hybrid_Cap...
FIGF p.V118M X 15376265 15376265 GDM1_HAEMATOPOI... 37 Missense_Mutation SNP C T uc004cwt.1 Hybrid_Cap... view
FLI1 11 128638217 128638217 GDM1_HAEMATOPOI... 37 Intron Del G - uc010sbu.1 FLI1_uc010sbt.1... Hybrid_Cap...
FN1 2 216244182 216244185 GDM1_HAEMATOPOI... 37 Intron Del GTAC - uc002vfa.2 FN1_uc002vfb.2_... Hybrid_Cap...
GOLGA5 14 93305991 93305991 GDM1_HAEMATOPOI... 37 3'UTR SNP A G uc001yaz.1 GOLGA5_uc001yba... Hybrid_Cap... view
GPR112 p.S53N X 135405024 135405024 GDM1_HAEMATOPOI... 37 Missense_Mutation SNP G A uc004ezu.1 GPR112_uc010nsb... Hybrid_Cap... view
GPR112 p.D2657del X 135474445 135474447 GDM1_HAEMATOPOI... 37 In_Frame_Del Del GAT - rs3030295 uc004ezu.1 GPR112_uc010nsb... Hybrid_Cap...
GRIA3 X 122318386 122318387 GDM1_HAEMATOPOI... 37 Splice_Site_Ins Ins - G rs66632982 uc004etq.3 GRIA3_uc004etr.... Hybrid_Cap...
HIF1A 14 62213929 62213930 GDM1_HAEMATOPOI... 37 3'UTR Ins - T rs67890419 uc001xfs.2 HIF1A_uc001xfq.... Hybrid_Cap...
HNF1A 12 121434630 121434631 GDM1_HAEMATOPOI... 37 Intron Ins - TCATTCAT rs75100977 uc010szn.1 HNF1A_uc001tze.... Hybrid_Cap...
IL6ST p.H855N 5 55237104 55237104 GDM1_HAEMATOPOI... 37 Missense_Mutation SNP G T uc003jqq.2 IL6ST_uc010iwb.... Hybrid_Cap... view
ILK 11 6630029 6630029 GDM1_HAEMATOPOI... 37 Intron Del C - uc001mee.2 ILK_uc001mef.2_... Hybrid_Cap...
INHBA p.A297S 7 41729640 41729640 GDM1_HAEMATOPOI... 37 Missense_Mutation SNP C A uc003thq.2 INHBA_uc003thr.... Hybrid_Cap... view
ITPR2 p.R470_splice 12 26834804 26834805 GDM1_HAEMATOPOI... 37 Splice_Site_Ins Ins - ACTC rs66696203;rs59199365 uc001rhg.2 Hybrid_Cap...
JAG2 p.N547N 14 105615619 105615619 GDM1_HAEMATOPOI... 37 Silent SNP G A uc001yqg.2 JAG2_uc010axf.2... Hybrid_Cap... view
KLK7 19 51480672 51480675 GDM1_HAEMATOPOI... 37 3'UTR Del GGTT - uc002puo.2 KLK7_uc002pup.2... Hybrid_Cap...
MAML1 p.G513fs 5 179193548 179193548 GDM1_HAEMATOPOI... 37 Frame_Shift_Del Del G - uc003mkm.2 MAML1_uc003mkn.... Hybrid_Cap...
MAML3 p.Q767_splice 4 140651585 140651587 GDM1_HAEMATOPOI... 37 Splice_Site_Del Del CTG - uc003ihz.1 MGST2_uc010ioi.... Hybrid_Cap...
MAP3K1 p.T949del 5 56177849 56177851 GDM1_HAEMATOPOI... 37 In_Frame_Del Del CAA - uc003jqw.3 Hybrid_Cap...
MAP3K14 p.R218_splice 17 43364293 43364294 GDM1_HAEMATOPOI... 37 Splice_Site_Ins Ins - G rs66766023 uc002iiw.1 MAP3K14_uc010da... Hybrid_Cap...
MAPK14 6 36076345 36076354 GDM1_HAEMATOPOI... 37 3'UTR Del GTGTG... - rs80147786 uc003olp.2 MAPK14_uc003olq... Hybrid_Cap...
MGA 15 42059535 42059535 GDM1_HAEMATOPOI... 37 3'UTR SNP T C uc010ucy.1 MGA_uc010ucz.1_... Hybrid_Cap... view
MGC42105 p.T66M 5 43246074 43246074 GDM1_HAEMATOPOI... 37 Missense_Mutation SNP C T uc003jno.2 Hybrid_Cap... view
MYLK p.E1430_splice 3 123368043 123368044 GDM1_HAEMATOPOI... 37 Splice_Site_Ins Ins - G rs41431347 uc003ego.2 MYLK_uc010hrr.2... Hybrid_Cap...
NCAM1 11 112832307 112832308 GDM1_HAEMATOPOI... 37 5'UTR Ins - A rs117108942 uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCAM1 11 112832340 112832340 GDM1_HAEMATOPOI... 37 5'UTR Del C - uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCOA4 p.A227V 10 51582857 51582857 GDM1_HAEMATOPOI... 37 Missense_Mutation SNP C T uc009xon.2 PARG_uc001jih.2... Hybrid_Cap... view
NFIA 1 61921185 61921186 GDM1_HAEMATOPOI... 37 3'UTR Ins - T rs57270124;rs76131997 uc010oos.1 NFIA_uc001czy.2... Hybrid_Cap...
NFKB1 p.T585M 4 103527654 103527654 GDM1_HAEMATOPOI... 37 Missense_Mutation SNP C T uc011cep.1 NFKB1_uc011ceq.... Hybrid_Cap... view
NR1H2 p.176_177insQ 19 50881822 50881823 GDM1_HAEMATOPOI... 37 In_Frame_Ins Ins - CAG rs61751954;rs1052533 uc010enw.2 NR1H2_uc002prv.... Hybrid_Cap...
NUP214 9 134067556 134067557 GDM1_HAEMATOPOI... 37 Intron Ins - T rs66652901 uc004cag.2 NUP214_uc004cah... Hybrid_Cap...
PAX3 2 223158653 223158653 GDM1_HAEMATOPOI... 37 Intron Del T - rs112753212 uc002vmt.1 PAX3_uc002vmy.1... Hybrid_Cap...
PGR 11 100933598 100933599 GDM1_HAEMATOPOI... 37 Intron Ins - AATGA rs35148438 uc001pgh.2 PGR_uc001pgg.2_... Hybrid_Cap...
PHIP 6 79650272 79650273 GDM1_HAEMATOPOI... 37 3'UTR Ins - G rs71682575 uc003pir.2 PHIP_uc003piq.2... Hybrid_Cap...
PRKCA 17 64298959 64298960 GDM1_HAEMATOPOI... 37 5'UTR Ins - G rs71160558 uc002jfp.1 PRKCA_uc002jfo.... Hybrid_Cap...
PRKCE p.R377Q 2 46234667 46234667 GDM1_HAEMATOPOI... 37 Missense_Mutation SNP G A uc002rut.2 Hybrid_Cap... view
PRKD1 14 30046261 30046261 GDM1_HAEMATOPOI... 37 3'UTR SNP C T uc001wqh.2 Hybrid_Cap... view
PRKD3 p.R211C 2 37516585 37516585 GDM1_HAEMATOPOI... 37 Missense_Mutation SNP G A rs62001881 uc002rqd.2 PRKD3_uc002rqf.... Hybrid_Cap... view
PRKDC p.L1244fs 8 48805816 48805817 GDM1_HAEMATOPOI... 37 Frame_Shift_Ins Ins - G rs67588121 uc003xqi.2 PRKDC_uc003xqj.... Hybrid_Cap...
PSMA4 15 78834083 78834083 GDM1_HAEMATOPOI... 37 Intron SNP T C uc002bdu.3 PSMA4_uc010blf.... Hybrid_Cap... view
RBPJ p.R238* 4 26426291 26426291 GDM1_HAEMATOPOI... 37 Nonsense_Mutation SNP C T rs5007634 uc003grx.1 RBPJ_uc003gry.1... Hybrid_Cap... view
RGS22 p.K787N 8 101020603 101020603 GDM1_HAEMATOPOI... 37 Missense_Mutation SNP C A uc003yjb.1 RGS22_uc003yja.... Hybrid_Cap... view
RPS6KA6 p.A241P X 83374961 83374961 GDM1_HAEMATOPOI... 37 Missense_Mutation SNP C G uc004eej.1 RPS6KA6_uc011mq... Hybrid_Cap... view
RPS6KL1 14 75373626 75373627 GDM1_HAEMATOPOI... 37 3'UTR Ins - TGAT uc001xqx.1 RPS6KL1_uc001xq... Hybrid_Cap...
RPTOR p.T1035M 17 78919545 78919545 GDM1_HAEMATOPOI... 37 Missense_Mutation SNP C T uc002jyt.1 RPTOR_uc010wug.... Hybrid_Cap... view
SOX2 3 181431227 181431227 GDM1_HAEMATOPOI... 37 3'UTR Del A - uc003fkx.2 SOX2OT_uc003fkv... Hybrid_Cap...
STK31 7 23872024 23872025 GDM1_HAEMATOPOI... 37 3'UTR Ins - TTTG rs66787534 uc003sws.3 STK31_uc003swt.... Hybrid_Cap...
STK40 p.M272V 1 36809806 36809806 GDM1_HAEMATOPOI... 37 Missense_Mutation SNP T C uc001cal.1 STK40_uc001cak.... Hybrid_Cap... view
TCEA1 p.N121D 8 54900779 54900779 GDM1_HAEMATOPOI... 37 Missense_Mutation SNP T C uc003xru.2 TCEA1_uc003xrv.... Hybrid_Cap... view
TEC 4 48139307 48139310 GDM1_HAEMATOPOI... 37 3'UTR Del TTAT - rs79098351 uc003gxz.2 Hybrid_Cap...
TGFB2 1 218519928 218519929 GDM1_HAEMATOPOI... 37 5'UTR Ins - AAAC uc001hln.2 TGFB2_uc001hll.... Hybrid_Cap...
TLK1 2 171850178 171850179 GDM1_HAEMATOPOI... 37 3'UTR Ins - AA rs71008739 uc002ugo.2 TLK1_uc002ugn.2... Hybrid_Cap...
TMEM123 11 102269398 102269398 GDM1_HAEMATOPOI... 37 3'UTR Del G - uc001pha.2 TMEM123_uc009yx... Hybrid_Cap...
TP63 3 189507518 189507519 GDM1_HAEMATOPOI... 37 Intron Ins - AGAG rs62702062;rs79714037 uc003fry.2 TP63_uc003frx.2... Hybrid_Cap...
TRIM33 1 114940215 114940216 GDM1_HAEMATOPOI... 37 3'UTR Ins - G rs68133208 uc001eew.2 TRIM33_uc010owr... Hybrid_Cap...
VEGFC p.S419_splice 4 177605082 177605084 GDM1_HAEMATOPOI... 37 Splice_Site_Del Del TCA - uc003ius.1 Hybrid_Cap...