Annotation Summary for Cell Line: THP-1  

Cell line primary name: THP-1
Cell line aliases:
Gender: M
Site Primary: haematopoietic_and_lymphoid_tissue
Histology: haematopoietic_neoplasm
Hist Subtype1: acute_myeloid_leukaemia
Notes:
Source: ATCC
Expression arrays: BUNDS_p_NCLE_RNA5_HG-U133_Plus_2_F05_419794
SNP arrays: FIEFS_p_NCLE_DNA_Affy5_GenomeWideSNP_6_H03_410938
Oncomap: yes
Hybrid Capture Sequencing: yes


Mutations in THP-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 THP1_HAEMATOPOI... 37 In_Frame_Del Del TGT - rs55712143 uc002sfp.2 AAK1_uc010fdk.2... Hybrid_Cap...
ADAM28 8 24211994 24211997 THP1_HAEMATOPOI... 37 3'UTR Del CTAT - rs10610134 uc003xdy.2 ADAM28_uc011laa... Hybrid_Cap...
AKAP12 p.1531_1532insE 6 151674116 151674117 THP1_HAEMATOPOI... 37 In_Frame_Ins Ins - GAG rs34737819 uc011eep.1 AKAP12_uc003qoe... Hybrid_Cap...
AKAP9 p.1335_1336insQ 7 91652178 91652179 THP1_HAEMATOPOI... 37 In_Frame_Ins Ins - AAC rs34756483 uc003ulg.2 AKAP9_uc003ule.... Hybrid_Cap...
AKAP9 7 91670318 91670319 THP1_HAEMATOPOI... 37 Intron Ins - T rs66490357 uc003ulg.2 AKAP9_uc003ule.... Hybrid_Cap...
ALPK1 4 113347609 113347610 THP1_HAEMATOPOI... 37 Intron Ins - T rs68137453 uc003iap.3 ALPK1_uc003ian.... Hybrid_Cap...
ALPK2 p.EDTST1006del 18 56204388 56204402 THP1_HAEMATOPOI... 37 In_Frame_Del Del CAGTT... - rs60644017;rs117623369 uc002lhj.3 ALPK2_uc002lhk.... Hybrid_Cap...
ASPH p.A264_splice 8 62550924 62550925 THP1_HAEMATOPOI... 37 Splice_Site_Ins Ins - A rs5891816 uc003xuj.2 ASPH_uc011leg.1... Hybrid_Cap...
ATF1 p.T146R 12 51207901 51207901 THP1_HAEMATOPOI... 37 Missense_Mutation SNP C G uc001rww.3 ATF1_uc010smu.1... Hybrid_Cap... view
ATM p.T935R 11 108139302 108139302 THP1_HAEMATOPOI... 37 Missense_Mutation SNP C G rs3218708 uc001pkb.1 ATM_uc009yxr.1_... Hybrid_Cap... view
ATP11A p.R789Q 13 113510347 113510347 THP1_HAEMATOPOI... 37 Missense_Mutation SNP G A uc001vsj.3 ATP11A_uc001vsi... Hybrid_Cap... view
BCL3 19 45262891 45262891 THP1_HAEMATOPOI... 37 3'UTR SNP T C uc010xxe.1 Hybrid_Cap... view
BCL9 p.P439L 1 147091277 147091277 THP1_HAEMATOPOI... 37 Missense_Mutation SNP C T uc001epq.2 BCL9_uc010ozr.1... Hybrid_Cap... view
BLNK p.V182M 10 97976472 97976472 THP1_HAEMATOPOI... 37 Missense_Mutation SNP C T uc001kls.3 BLNK_uc001kme.3... Hybrid_Cap... view
CACNB2 10 18828721 18828722 THP1_HAEMATOPOI... 37 3'UTR Ins - AA rs3841459 uc001ipr.2 CACNB2_uc009xjz... Hybrid_Cap...
CDK11B 1 1654066 1654068 THP1_HAEMATOPOI... 37 Intron Del GCG - uc001agv.1 CDK11B_uc001aha... Hybrid_Cap...
CDK14 p.E308Q 7 90585107 90585107 THP1_HAEMATOPOI... 37 Missense_Mutation SNP G C uc003uky.2 CDK14_uc003ukz.... Hybrid_Cap... view
CDK18 p.S59T 1 205492656 205492656 THP1_HAEMATOPOI... 37 Missense_Mutation SNP G C uc001hcr.2 CDK18_uc009xbk.... Hybrid_Cap... view
CDK2 12 56365605 56365605 THP1_HAEMATOPOI... 37 3'UTR SNP G A rs78839552 uc001sit.3 CDK2_uc001siu.3... Hybrid_Cap... view
CDKL4 p.F234fs 2 39414801 39414802 THP1_HAEMATOPOI... 37 Frame_Shift_Ins Ins - AA uc010fal.1 CDKL4_uc002rrm.... Hybrid_Cap...
CDKN1A 6 36653580 36653580 THP1_HAEMATOPOI... 37 3'UTR SNP C T uc011dtq.1 CDKN1A_uc003omm... Hybrid_Cap... view
CLTCL1 p.V1201_splice 22 19189003 19189004 THP1_HAEMATOPOI... 37 Splice_Site_Ins Ins - C rs11386977 uc002zpb.2 CLTCL1_uc011agv... Hybrid_Cap...
CSK p.A24A 15 75091012 75091012 THP1_HAEMATOPOI... 37 Silent SNP C T rs55904036 uc010bkb.1 CSK_uc010bka.2_... Hybrid_Cap... view
CTBP2 p.K974fs 10 126678123 126678123 THP1_HAEMATOPOI... 37 Frame_Shift_Del Del T - uc001lie.3 CTBP2_uc009yak.... Hybrid_Cap...
CYP1B1 p.I511V 2 38297966 38297966 THP1_HAEMATOPOI... 37 Missense_Mutation SNP T C uc002rqo.2 Hybrid_Cap... view
DGKB 7 14216345 14216346 THP1_HAEMATOPOI... 37 Intron Ins - AGACT uc003ssz.2 DGKB_uc011jxt.1... Hybrid_Cap...
EIF2AK4 p.P662L 15 40268781 40268781 THP1_HAEMATOPOI... 37 Missense_Mutation SNP C T uc001zkm.1 EIF2AK4_uc010bb... Hybrid_Cap... view
EIF2B5 3 183862821 183862821 THP1_HAEMATOPOI... 37 3'UTR SNP T C uc003fmp.2 EIF2B5_uc003fmq... Hybrid_Cap... view
EPHA4 2 222290623 222290624 THP1_HAEMATOPOI... 37 3'UTR Ins - T uc002vmq.2 EPHA4_uc002vmr.... Hybrid_Cap...
EPHA6 3 97367230 97367231 THP1_HAEMATOPOI... 37 Intron Ins - A rs115253553 uc010how.1 EPHA6_uc003drs.... Hybrid_Cap...
EPHB6 p.V405V 7 142563827 142563827 THP1_HAEMATOPOI... 37 Silent SNP C A uc011kst.1 EPHB6_uc011ksu.... Hybrid_Cap... view
F8 p.S596C X 154182283 154182283 THP1_HAEMATOPOI... 37 Missense_Mutation SNP G C uc004fmt.2 Hybrid_Cap... view
FANCD2 p.Y1117F 3 10128832 10128832 THP1_HAEMATOPOI... 37 Missense_Mutation SNP A T uc003buw.2 FANCD2_uc003bux... Hybrid_Cap... view
FANCG p.A153G 9 35078190 35078190 THP1_HAEMATOPOI... 37 Missense_Mutation SNP G C uc003zwb.1 FANCG_uc003zwa.... Hybrid_Cap... view
FBN2 p.V2172A 5 127624941 127624941 THP1_HAEMATOPOI... 37 Missense_Mutation SNP A G uc003kuu.2 Hybrid_Cap... view
FGF2 p.G6D 4 123747947 123747947 THP1_HAEMATOPOI... 37 Missense_Mutation SNP G A uc003iev.1 Hybrid_Cap... view
FGFR1OP 6 167453519 167453520 THP1_HAEMATOPOI... 37 3'UTR Ins - T rs115519488 uc003qvj.2 CCR6_uc003qvl.2... Hybrid_Cap...
FGFR3 4 1809128 1809129 THP1_HAEMATOPOI... 37 3'UTR Del GT - uc003gdu.2 FGFR3_uc003gdr.... Hybrid_Cap...
FLI1 11 128638217 128638217 THP1_HAEMATOPOI... 37 Intron Del G - uc010sbu.1 FLI1_uc010sbt.1... Hybrid_Cap...
FN1 2 216244182 216244185 THP1_HAEMATOPOI... 37 Intron Del GTAC - uc002vfa.2 FN1_uc002vfb.2_... Hybrid_Cap...
FOXP1 3 71008341 71008342 THP1_HAEMATOPOI... 37 3'UTR Ins - T rs11433724;rs114233617 uc003dol.2 FOXP1_uc003dom.... Hybrid_Cap...
FZD1 p.93_94insP 7 90894459 90894460 THP1_HAEMATOPOI... 37 In_Frame_Ins Ins - CCG uc003ula.2 Hybrid_Cap...
GPR112 p.D2657del X 135474445 135474447 THP1_HAEMATOPOI... 37 In_Frame_Del Del GAT - rs3030295 uc004ezu.1 GPR112_uc010nsb... Hybrid_Cap...
GRIA3 X 122318386 122318387 THP1_HAEMATOPOI... 37 Splice_Site_Ins Ins - G rs66632982 uc004etq.3 GRIA3_uc004etr.... Hybrid_Cap...
GUCY2C 12 14827464 14827466 THP1_HAEMATOPOI... 37 Intron Del ATC - rs72525754;rs3083879 uc001rcd.2 GUCY2C_uc009zhz... Hybrid_Cap...
HERC2 p.R2126L 15 28459400 28459400 THP1_HAEMATOPOI... 37 Missense_Mutation SNP C A uc001zbj.2 Hybrid_Cap... view
HIF1A 14 62213929 62213930 THP1_HAEMATOPOI... 37 3'UTR Ins - T rs67890419 uc001xfs.2 HIF1A_uc001xfq.... Hybrid_Cap...
HNF1A 12 121434630 121434631 THP1_HAEMATOPOI... 37 Intron Ins - TCATTCAT rs75100977 uc010szn.1 HNF1A_uc001tze.... Hybrid_Cap...
IL21R 16 27460779 27460780 THP1_HAEMATOPOI... 37 3'UTR Ins - TG rs66690088 uc002doq.1 IL21R_uc002dor.... Hybrid_Cap...
ILK 11 6630029 6630029 THP1_HAEMATOPOI... 37 Intron Del C - uc001mee.2 ILK_uc001mef.2_... Hybrid_Cap...
ITPR2 p.R470_splice 12 26834804 26834805 THP1_HAEMATOPOI... 37 Splice_Site_Ins Ins - ACTC rs66696203;rs59199365 uc001rhg.2 Hybrid_Cap...
KLK7 19 51480672 51480675 THP1_HAEMATOPOI... 37 3'UTR Del GGTT - uc002puo.2 KLK7_uc002pup.2... Hybrid_Cap...
LATS2 13 21620222 21620223 THP1_HAEMATOPOI... 37 5'UTR Ins - A rs61240127;rs115723063 uc009zzs.2 LATS2_uc001unr.... Hybrid_Cap...
MAML2 p.604_607QQQQ>Q 11 95825375 95825383 THP1_HAEMATOPOI... 37 In_Frame_Del Del TGCTG... - rs113349418 uc001pfw.1 Hybrid_Cap...
MAML3 p.Q767_splice 4 140651585 140651587 THP1_HAEMATOPOI... 37 Splice_Site_Del Del CTG - uc003ihz.1 MGST2_uc010ioi.... Hybrid_Cap...
MAP3K1 p.T949del 5 56177849 56177851 THP1_HAEMATOPOI... 37 In_Frame_Del Del CAA - uc003jqw.3 Hybrid_Cap...
MAP3K4 p.A1199del 6 161519351 161519353 THP1_HAEMATOPOI... 37 In_Frame_Del Del CTG - uc003qtn.2 MAP3K4_uc010kkc... Hybrid_Cap...
MAP3K5 6 136878752 136878752 THP1_HAEMATOPOI... 37 3'UTR Del T - rs79903899 uc003qhc.2 MAP3K5_uc011edj... Hybrid_Cap...
MAPK14 6 36076345 36076354 THP1_HAEMATOPOI... 37 3'UTR Del GTGTG... - rs80147786 uc003olp.2 MAPK14_uc003olq... Hybrid_Cap...
MELK p.T78I 9 36589621 36589621 THP1_HAEMATOPOI... 37 Missense_Mutation SNP C T rs115531852 uc003zzn.2 MELK_uc011lpm.1... Hybrid_Cap... view
MLLT4 p.A780T 6 168315910 168315910 THP1_HAEMATOPOI... 37 Missense_Mutation SNP G A uc003qwd.2 MLLT4_uc003qwb.... Hybrid_Cap... view
MYLK 3 123332876 123332876 THP1_HAEMATOPOI... 37 3'UTR Del T - rs115544676 uc003ego.2 MYLK_uc003egl.2... Hybrid_Cap...
MYLK p.E1066del 3 123419117 123419119 THP1_HAEMATOPOI... 37 In_Frame_Del Del TTC - rs72491150 uc003ego.2 MYLK_uc011bjw.1... Hybrid_Cap...
MYST3 p.E1109del 8 41794797 41794799 THP1_HAEMATOPOI... 37 In_Frame_Del Del TCT - uc010lxb.2 MYST3_uc010lxc.... Hybrid_Cap...
MYST4 p.E1104del 10 76781906 76781908 THP1_HAEMATOPOI... 37 In_Frame_Del Del GAA - rs79644703 uc001jwn.1 MYST4_uc001jwm.... Hybrid_Cap...
NCAM1 11 112832307 112832308 THP1_HAEMATOPOI... 37 5'UTR Ins - A rs117108942 uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCAM1 11 112832340 112832340 THP1_HAEMATOPOI... 37 5'UTR Del C - uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NEK3 p.K313_splice 13 52718050 52718051 THP1_HAEMATOPOI... 37 Splice_Site_Ins Ins - T rs72514762 uc001vgh.2 NEK3_uc001vgg.2... Hybrid_Cap...
NIN p.S1965C 14 51196425 51196425 THP1_HAEMATOPOI... 37 Missense_Mutation SNP G C uc001wyi.2 NIN_uc001wyj.2_... Hybrid_Cap... view
NR1H2 p.176_177insQ 19 50881820 50881821 THP1_HAEMATOPOI... 37 In_Frame_Ins Ins - AAC rs66783852;rs112359270 uc010enw.2 NR1H2_uc002prv.... Hybrid_Cap...
NRAS p.G12D 1 115258747 115258747 THP1_HAEMATOPOI... 37 Missense_Mutation SNP C T uc009wgu.2 Hybrid_Cap... view
NUP214 9 134067556 134067557 THP1_HAEMATOPOI... 37 Intron Ins - TT rs66652901 uc004cag.2 NUP214_uc004cah... Hybrid_Cap...
PALB2 p.E837K 16 23640966 23640966 THP1_HAEMATOPOI... 37 Missense_Mutation SNP C T uc002dlx.1 Hybrid_Cap... view
PARP9 p.Y476N 3 122269436 122269436 THP1_HAEMATOPOI... 37 Missense_Mutation SNP A T uc010hri.2 PARP9_uc003eff.... Hybrid_Cap... view
PAX3 2 223158653 223158653 THP1_HAEMATOPOI... 37 Intron Del T - rs112753212 uc002vmt.1 PAX3_uc002vmy.1... Hybrid_Cap...
PDE4DIP p.L601fs 1 144915624 144915624 THP1_HAEMATOPOI... 37 Frame_Shift_Del Del G - rs1778112 uc001elw.3 NBPF10_uc009wir... Hybrid_Cap...
PDGFRA p.N232S 4 54257655 54257655 THP1_HAEMATOPOI... 37 Missense_Mutation SNP A G uc003haa.2 FIP1L1_uc003gzx... Hybrid_Cap... view
PDK4 7 95221928 95221928 THP1_HAEMATOPOI... 37 Intron Del A - uc003uoa.2 PDK4_uc003unz.2... Hybrid_Cap...
PICALM p.P434A 11 85701401 85701401 THP1_HAEMATOPOI... 37 Missense_Mutation SNP G C uc001pbm.2 PICALM_uc001pbl... Hybrid_Cap... view
PICALM p.T356T 11 85711772 85711772 THP1_HAEMATOPOI... 37 Silent SNP A G uc001pbm.2 PICALM_uc001pbl... Hybrid_Cap... view
PIK3C2A 11 17111198 17111199 THP1_HAEMATOPOI... 37 3'UTR Del GT - uc001mmq.3 PIK3C2A_uc009yg... Hybrid_Cap...
PIK3R1 5 67584527 67584527 THP1_HAEMATOPOI... 37 Intron SNP T C uc003jva.2 PIK3R1_uc003jvb... Hybrid_Cap... view
PLCG1 p.T61M 20 39766463 39766463 THP1_HAEMATOPOI... 37 Missense_Mutation SNP C T uc002xjo.1 PLCG1_uc002xjp.... Hybrid_Cap... view
PMS1 2 190670539 190670540 THP1_HAEMATOPOI... 37 Intron Ins - A rs3214425 uc002urh.3 PMS1_uc010zga.1... Hybrid_Cap...
PPP3R1 p.F15_splice 2 68415824 68415824 THP1_HAEMATOPOI... 37 Splice_Site_SNP SNP T A uc002sei.1 Hybrid_Cap... view
PRKCA 17 64298959 64298960 THP1_HAEMATOPOI... 37 5'UTR Ins - G rs71160558 uc002jfp.1 PRKCA_uc002jfo.... Hybrid_Cap...
PRKDC p.L1244fs 8 48805816 48805817 THP1_HAEMATOPOI... 37 Frame_Shift_Ins Ins - G rs67588121 uc003xqi.2 PRKDC_uc003xqj.... Hybrid_Cap...
PTPRD p.L770V 9 8499661 8499661 THP1_HAEMATOPOI... 37 Missense_Mutation SNP G C uc003zkk.2 PTPRD_uc003zkp.... Hybrid_Cap... view
RALBP1 p.E609K 18 9535792 9535792 THP1_HAEMATOPOI... 37 Missense_Mutation SNP G A uc002kob.2 RALBP1_uc002koc... Hybrid_Cap... view
RASGRF1 15 79277150 79277151 THP1_HAEMATOPOI... 37 Intron Ins - C rs67045840;rs77640668 uc002beq.2 RASGRF1_uc002be... Hybrid_Cap...
RBPJ p.R238* 4 26426291 26426291 THP1_HAEMATOPOI... 37 Nonsense_Mutation SNP C T rs5007634 uc003grx.1 RBPJ_uc003gry.1... Hybrid_Cap... view
RECQL4 p.R766fs 8 145738768 145738768 THP1_HAEMATOPOI... 37 Frame_Shift_Del Del G - uc003zdj.2 Hybrid_Cap...
ROBO2 3 77666937 77666937 THP1_HAEMATOPOI... 37 Intron Del A - rs78745603 uc003dpz.2 ROBO2_uc003dpy.... Hybrid_Cap...
RPS6KB1 17 58024224 58024225 THP1_HAEMATOPOI... 37 3'UTR Ins - AA rs67846207 uc002ixy.2 RPS6KB1_uc010dd... Hybrid_Cap...
RPS6KL1 14 75373626 75373627 THP1_HAEMATOPOI... 37 3'UTR Ins - TGAT uc001xqx.1 RPS6KL1_uc001xq... Hybrid_Cap...
SMURF2 17 62541865 62541865 THP1_HAEMATOPOI... 37 3'UTR Del A - rs3210656 uc002jep.1 SMURF2_uc002jeq... Hybrid_Cap...
SOX10 22 38379354 38379354 THP1_HAEMATOPOI... 37 Intron SNP G C uc003aun.1 POLR2F_uc003aum... Hybrid_Cap... view
STK25 2 242435659 242435662 THP1_HAEMATOPOI... 37 Intron Del AAGG - rs3215138;rs75497042 uc002wbm.2 STK25_uc002wbk.... Hybrid_Cap...
STK31 7 23872024 23872025 THP1_HAEMATOPOI... 37 3'UTR Ins - TTTG rs66787534 uc003sws.3 STK31_uc003swt.... Hybrid_Cap...
TEC 4 48139307 48139310 THP1_HAEMATOPOI... 37 3'UTR Del TTAT - rs79098351 uc003gxz.2 Hybrid_Cap...
TGFB2 1 218519928 218519929 THP1_HAEMATOPOI... 37 5'UTR Ins - AAAC uc001hln.2 TGFB2_uc001hll.... Hybrid_Cap...
TLK1 2 171850201 171850201 THP1_HAEMATOPOI... 37 3'UTR Del G - rs78172041 uc002ugo.2 TLK1_uc002ugn.2... Hybrid_Cap...
TNFRSF17 p.T161T 16 12061632 12061632 THP1_HAEMATOPOI... 37 Silent SNP G A uc002dbv.2 TNFRSF17_uc010b... Hybrid_Cap... view
TP53 p.R174fs 17 7578385 7578410 THP1_HAEMATOPOI... 37 Frame_Shift_Del Del CAGCG... - rs68130327;rs28934578 uc002gim.2 TP53_uc002gig.1... Hybrid_Cap...
TP73 p.D305N 1 3644262 3644262 THP1_HAEMATOPOI... 37 Missense_Mutation SNP G A uc001akp.2 TP73_uc001akq.2... Hybrid_Cap... view
TRPS1 8 116635872 116635873 THP1_HAEMATOPOI... 37 5'UTR Ins - A rs76893349 uc003yny.2 TRPS1_uc011lhy.... Hybrid_Cap...
TSSK2 p.D111D 22 19119245 19119245 THP1_HAEMATOPOI... 37 Silent SNP C T uc002zow.2 DGCR14_uc002zot... Hybrid_Cap... view
TTN 2 179391639 179391640 THP1_HAEMATOPOI... 37 3'UTR Ins - T rs36037175 uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap...
UBR5 8 103279315 103279315 THP1_HAEMATOPOI... 37 Intron SNP A G uc003ykr.1 UBR5_uc003yks.1... Hybrid_Cap... view
VEGFC p.S419_splice 4 177605082 177605084 THP1_HAEMATOPOI... 37 Splice_Site_Del Del TCA - uc003ius.1 Hybrid_Cap...
ZAP70 p.S320S 2 98351053 98351053 THP1_HAEMATOPOI... 37 Silent SNP C T uc002syd.1 ZAP70_uc010yvf.... Hybrid_Cap... view