Annotation Summary for Cell Line: PL-21  

Cell line primary name: PL-21
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_G04_523576
SNP arrays: AWASH_p_NCLE_DNAAffy10_GenomeWideSNP_6_F09_542934
Oncomap: yes
Hybrid Capture Sequencing: yes


Mutations in PL-21

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 PL21_HAEMATOPOI... 37 In_Frame_Del Del TGT - rs55712143 uc002sfp.2 AAK1_uc010fdk.2... Hybrid_Cap...
ADAM28 8 24211994 24211997 PL21_HAEMATOPOI... 37 3'UTR Del CTAT - rs10610134 uc003xdy.2 ADAM28_uc011laa... Hybrid_Cap...
ADAM29 p.C443* 4 175898005 175898005 PL21_HAEMATOPOI... 37 Nonsense_Mutation SNP C A uc003iuc.2 ADAM29_uc003iud... Hybrid_Cap... view
ADCK1 14 78390632 78390637 PL21_HAEMATOPOI... 37 Intron Del AAACT... - rs78274857;rs74969652 uc001xui.2 ADCK1_uc010tvo.... Hybrid_Cap...
AKAP12 p.1531_1532insE 6 151674116 151674117 PL21_HAEMATOPOI... 37 In_Frame_Ins Ins - GAG rs34737819 uc011eep.1 AKAP12_uc003qoe... Hybrid_Cap...
ALPK1 4 113347609 113347610 PL21_HAEMATOPOI... 37 Intron Ins - T rs68137453 uc003iap.3 ALPK1_uc003ian.... Hybrid_Cap...
ALPK2 p.N2106K 18 56149250 56149250 PL21_HAEMATOPOI... 37 Missense_Mutation SNP G C uc002lhj.3 Hybrid_Cap... view
AURKC 19 57742494 57742507 PL21_HAEMATOPOI... 37 5'UTR Del GGACG... - rs67926438;rs112039303;rs59094959 uc002qoe.2 AURKC_uc002qoc.... Hybrid_Cap...
BIRC3 p.E236D 11 102195948 102195948 PL21_HAEMATOPOI... 37 Missense_Mutation SNP A C uc001pgx.2 Hybrid_Cap... view
BIRC6 2 32843092 32843092 PL21_HAEMATOPOI... 37 3'UTR SNP T G uc010ezu.2 Hybrid_Cap... view
C6ORF97 p.K382fs 6 151907077 151907077 PL21_HAEMATOPOI... 37 Frame_Shift_Del Del G - uc003qol.2 Hybrid_Cap...
CACNB2 10 18828721 18828722 PL21_HAEMATOPOI... 37 3'UTR Ins - AA rs3841459 uc001ipr.2 CACNB2_uc009xjz... Hybrid_Cap...
CCND2 p.K146E 12 4387950 4387950 PL21_HAEMATOPOI... 37 Missense_Mutation SNP A G uc001qmo.2 Hybrid_Cap... view
CDK11B 1 1654066 1654068 PL21_HAEMATOPOI... 37 Intron Del GCG - uc001agv.1 CDK11B_uc001aha... Hybrid_Cap...
CDK18 p.R289H 1 205496968 205496968 PL21_HAEMATOPOI... 37 Missense_Mutation SNP G A uc001hcr.2 CDK18_uc001hcp.... Hybrid_Cap... view
CDK8 p.R323L 13 26974624 26974624 PL21_HAEMATOPOI... 37 Missense_Mutation SNP G T uc001uqr.1 CDK8_uc001uqs.1... Hybrid_Cap... view
CHRNA5 15 78885615 78885616 PL21_HAEMATOPOI... 37 3'UTR Ins - TA rs72534078 uc002bdy.2 CHRNA3_uc002bea... Hybrid_Cap...
CIITA p.Q21H 16 10989149 10989149 PL21_HAEMATOPOI... 37 Missense_Mutation SNP G C uc002daj.3 CIITA_uc002dai.... Hybrid_Cap... view
CLTCL1 p.V1201_splice 22 19189003 19189004 PL21_HAEMATOPOI... 37 Splice_Site_Ins Ins - C rs11386977 uc002zpb.2 CLTCL1_uc011agv... Hybrid_Cap...
CTBP2 p.K974fs 10 126678123 126678123 PL21_HAEMATOPOI... 37 Frame_Shift_Del Del T - uc001lie.3 CTBP2_uc009yak.... Hybrid_Cap...
DACH1 13 72014625 72014626 PL21_HAEMATOPOI... 37 3'UTR Ins - T rs117109529 uc010thn.1 DACH1_uc010tho.... Hybrid_Cap...
DACH1 p.N359D 13 72204739 72204739 PL21_HAEMATOPOI... 37 Missense_Mutation SNP T C uc010thn.1 DACH1_uc010tho.... Hybrid_Cap... view
DGKB p.W674* 7 14378243 14378243 PL21_HAEMATOPOI... 37 Nonsense_Mutation SNP C T uc003ssz.2 DGKB_uc011jxt.1... Hybrid_Cap... view
EDN1 6 12290729 12290729 PL21_HAEMATOPOI... 37 5'UTR Del A - uc003nae.3 EDN1_uc010jpb.2... Hybrid_Cap...
EPHA6 3 97367230 97367231 PL21_HAEMATOPOI... 37 Intron Ins - A rs115253553 uc010how.1 EPHA6_uc003drs.... Hybrid_Cap...
ETV1 7 14028708 14028708 PL21_HAEMATOPOI... 37 5'UTR Del A - rs77190713 uc011jxq.1 ETV1_uc011jxn.1... Hybrid_Cap...
FGFR3 4 1809128 1809129 PL21_HAEMATOPOI... 37 3'UTR Del GT - uc003gdu.2 FGFR3_uc003gdr.... Hybrid_Cap...
FLI1 11 128638217 128638217 PL21_HAEMATOPOI... 37 Intron Del G - uc010sbu.1 FLI1_uc010sbt.1... Hybrid_Cap...
FLT1 13 28896583 28896583 PL21_HAEMATOPOI... 37 Intron SNP T A uc001usb.3 FLT1_uc010aap.2... Hybrid_Cap... view
FLT3 p.P336L 13 28623550 28623550 PL21_HAEMATOPOI... 37 Missense_Mutation SNP G A uc001urw.2 FLT3_uc010aao.2... Hybrid_Cap... view
FN1 2 216244182 216244185 PL21_HAEMATOPOI... 37 Intron Del GTAC - uc002vfa.2 FN1_uc002vfb.2_... Hybrid_Cap...
FOXP1 3 71008341 71008342 PL21_HAEMATOPOI... 37 3'UTR Ins - T rs11433724;rs114233617 uc003dol.2 FOXP1_uc003dom.... Hybrid_Cap...
FSCB p.E604* 14 44974381 44974381 PL21_HAEMATOPOI... 37 Nonsense_Mutation SNP C A uc001wvn.2 Hybrid_Cap... view
GATS 7 99798851 99798851 PL21_HAEMATOPOI... 37 3'UTR SNP C A uc003uua.3 STAG3_uc010lgs.... Hybrid_Cap... view
GLI3 p.A803S 7 42007218 42007218 PL21_HAEMATOPOI... 37 Missense_Mutation SNP C A uc011kbh.1 GLI3_uc011kbg.1... Hybrid_Cap... view
GPR112 p.D2657del X 135474445 135474447 PL21_HAEMATOPOI... 37 In_Frame_Del Del GAT - rs3030295 uc004ezu.1 GPR112_uc010nsb... Hybrid_Cap...
GRIA3 X 122318386 122318387 PL21_HAEMATOPOI... 37 Splice_Site_Ins Ins - G rs66632982 uc004etq.3 GRIA3_uc004etr.... Hybrid_Cap...
GRIN2B p.G1040S 12 13717054 13717054 PL21_HAEMATOPOI... 37 Missense_Mutation SNP C T uc001rbt.2 Hybrid_Cap... view
GUCY2C 12 14827464 14827466 PL21_HAEMATOPOI... 37 Intron Del ATC - rs72525754;rs3083879 uc001rcd.2 GUCY2C_uc009zhz... Hybrid_Cap...
HNF1A 12 121434630 121434631 PL21_HAEMATOPOI... 37 Intron Ins - TCATTCAT rs75100977 uc010szn.1 HNF1A_uc001tze.... Hybrid_Cap...
HNRNPA2B1 7 26240411 26240411 PL21_HAEMATOPOI... 37 5'UTR SNP A C uc003sxr.3 HNRNPA2B1_uc003... Hybrid_Cap... view
IGF1R 15 99192755 99192763 PL21_HAEMATOPOI... 37 5'UTR Del TTTTT... - uc002bul.2 IGF1R_uc010urq.... Hybrid_Cap...
ILK 11 6630029 6630029 PL21_HAEMATOPOI... 37 Intron Del C - uc001mee.2 ILK_uc001mef.2_... Hybrid_Cap...
ITGAV p.E151* 2 187490242 187490242 PL21_HAEMATOPOI... 37 Nonsense_Mutation SNP G T uc002upq.2 ITGAV_uc010frs.... Hybrid_Cap... view
ITPR2 p.R470_splice 12 26834804 26834805 PL21_HAEMATOPOI... 37 Splice_Site_Ins Ins - ACTC rs66696203;rs59199365 uc001rhg.2 Hybrid_Cap...
KLK7 19 51480672 51480675 PL21_HAEMATOPOI... 37 3'UTR Del GGTT - uc002puo.2 KLK7_uc002pup.2... Hybrid_Cap...
KRAS p.A146V 12 25378561 25378561 PL21_HAEMATOPOI... 37 Missense_Mutation SNP G A uc001rgp.1 KRAS_uc001rgq.1... Hybrid_Cap... view
LCP1 p.I130V 13 46730676 46730676 PL21_HAEMATOPOI... 37 Missense_Mutation SNP T C uc001vaz.3 LCP1_uc001vba.3... Hybrid_Cap... view
MAF 16 79628537 79628537 PL21_HAEMATOPOI... 37 Intron Del T - uc002ffm.2 MAF_uc002ffn.2_... Hybrid_Cap...
MAML3 p.Q767_splice 4 140651585 140651587 PL21_HAEMATOPOI... 37 Splice_Site_Del Del CTG - uc003ihz.1 MGST2_uc010ioi.... Hybrid_Cap...
MAP3K1 p.T949del 5 56177849 56177851 PL21_HAEMATOPOI... 37 In_Frame_Del Del CAA - uc003jqw.3 Hybrid_Cap...
MAP3K14 p.R218_splice 17 43364293 43364294 PL21_HAEMATOPOI... 37 Splice_Site_Ins Ins - G rs66766023 uc002iiw.1 MAP3K14_uc010da... Hybrid_Cap...
MAST2 1 46489767 46489767 PL21_HAEMATOPOI... 37 Intron SNP C T uc001cov.2 MAST2_uc001cow.... Hybrid_Cap... view
MAST4 p.H502R 5 66427758 66427758 PL21_HAEMATOPOI... 37 Missense_Mutation SNP A G uc003jut.1 MAST4_uc003juu.... Hybrid_Cap... view
MCL1 1 150549737 150549744 PL21_HAEMATOPOI... 37 3'UTR Del GCTAG... - rs116997851 uc001euz.2 MCL1_uc010pch.1... Hybrid_Cap...
MDM4 1 204494610 204494610 PL21_HAEMATOPOI... 37 Splice_Site_SNP SNP A T uc001hba.2 MDM4_uc001hbd.1... Hybrid_Cap... view
MECOM p.W1220C 3 168802757 168802757 PL21_HAEMATOPOI... 37 Missense_Mutation SNP C A uc011bpj.1 MECOM_uc010hwk.... Hybrid_Cap... view
MIF p.V10M 22 24236689 24236689 PL21_HAEMATOPOI... 37 Missense_Mutation SNP G A uc002zyr.1 MIF_uc011aje.1_... Hybrid_Cap... view
MN1 p.544_546QQQ>Q 22 28194895 28194900 PL21_HAEMATOPOI... 37 In_Frame_Del Del TGCTG... - rs75719175 uc003adj.2 Hybrid_Cap...
MSN p.R294H X 64955214 64955214 PL21_HAEMATOPOI... 37 Missense_Mutation SNP G A uc004dwf.2 Hybrid_Cap... view
MST1R p.R528C 3 49936088 49936088 PL21_HAEMATOPOI... 37 Missense_Mutation SNP G A uc003cxy.3 MST1R_uc011bdd.... Hybrid_Cap... view
MTUS2 p.T491M 13 29600277 29600277 PL21_HAEMATOPOI... 37 Missense_Mutation SNP C T uc001usl.3 Hybrid_Cap... view
MYC p.P74L 8 128750684 128750684 PL21_HAEMATOPOI... 37 Missense_Mutation SNP C T uc003ysi.2 MYC_uc003ysh.1_... Hybrid_Cap... view
NCAM1 11 112832307 112832308 PL21_HAEMATOPOI... 37 5'UTR Ins - A rs117108942 uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCAM1 11 112832340 112832340 PL21_HAEMATOPOI... 37 5'UTR Del C - uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCOA3 p.Q1276del 20 46279837 46279839 PL21_HAEMATOPOI... 37 In_Frame_Del Del CAG - rs2664555 uc002xtk.2 NCOA3_uc010ght.... Hybrid_Cap...
NFIA 1 61921185 61921186 PL21_HAEMATOPOI... 37 3'UTR Ins - T rs57270124;rs76131997 uc010oos.1 NFIA_uc001czy.2... Hybrid_Cap...
NPRL2 3 50384978 50384978 PL21_HAEMATOPOI... 37 3'UTR Del C - rs75013672 uc003daj.1 ZMYND10_uc003da... Hybrid_Cap...
NR1H2 p.176_177insQ 19 50881822 50881823 PL21_HAEMATOPOI... 37 In_Frame_Ins Ins - CAG rs61751954;rs1052533 uc010enw.2 NR1H2_uc002prv.... Hybrid_Cap...
OBSCN p.Q1519H 1 228444599 228444599 PL21_HAEMATOPOI... 37 Missense_Mutation SNP G T uc009xez.1 OBSCN_uc001hsn.... Hybrid_Cap... view
PAX3 2 223066017 223066018 PL21_HAEMATOPOI... 37 Intron Ins - C rs115619343 uc002vmt.1 PAX3_uc002vmy.1... Hybrid_Cap...
PAX3 2 223158653 223158653 PL21_HAEMATOPOI... 37 Intron Del T - rs112753212 uc002vmt.1 PAX3_uc002vmy.1... Hybrid_Cap...
PDGFRA 4 55131002 55131002 PL21_HAEMATOPOI... 37 Intron Del A - uc003han.3 PDGFRA_uc003haa... Hybrid_Cap...
PIK3C2G p.P129del 12 18435399 18435401 PL21_HAEMATOPOI... 37 In_Frame_Del Del CCC - uc010sib.1 PIK3C2G_uc001rd... Hybrid_Cap...
PIK3C2G 12 18800990 18800990 PL21_HAEMATOPOI... 37 3'UTR Del A - rs16914368 uc010sib.1 PIK3C2G_uc001rd... Hybrid_Cap...
PPARA p.D140N 22 46614208 46614208 PL21_HAEMATOPOI... 37 Missense_Mutation SNP G A rs113379388 uc003bgw.1 PPARA_uc003bgx.... Hybrid_Cap... view
PRKAA2 p.I32_splice 1 57140052 57140052 PL21_HAEMATOPOI... 37 Splice_Site_SNP SNP A T uc001cyk.3 Hybrid_Cap... view
PRKDC p.L1244fs 8 48805816 48805817 PL21_HAEMATOPOI... 37 Frame_Shift_Ins Ins - G rs67588121 uc003xqi.2 PRKDC_uc003xqj.... Hybrid_Cap...
PRKG1 10 52751088 52751089 PL21_HAEMATOPOI... 37 5'UTR Ins - GCT rs67900156;rs71029335 uc001jjm.2 PRKG1_uc010qhp.... Hybrid_Cap...
PTPRT p.R1176C 20 40733280 40733280 PL21_HAEMATOPOI... 37 Missense_Mutation SNP G A uc010ggj.2 PTPRT_uc002xkg.... Hybrid_Cap... view
RASA3 p.Y259Y 13 114786888 114786888 PL21_HAEMATOPOI... 37 Silent SNP G A uc001vui.2 RASA3_uc010tkk.... Hybrid_Cap... view
RELA p.P497P 11 65422047 65422047 PL21_HAEMATOPOI... 37 Silent SNP G A uc010ron.1 RELA_uc001ofg.2... Hybrid_Cap... view
RELA 11 65423109 65423109 PL21_HAEMATOPOI... 37 Intron SNP C A uc010ron.1 RELA_uc001ofg.2... Hybrid_Cap... view
RELA 11 65423116 65423116 PL21_HAEMATOPOI... 37 Intron SNP G A uc010ron.1 RELA_uc001ofg.2... Hybrid_Cap... view
RHPN2 p.R425Q 19 33487078 33487078 PL21_HAEMATOPOI... 37 Missense_Mutation SNP C T uc002nuf.2 RHPN2_uc010xro.... Hybrid_Cap... view
RIPK4 p.L104fs 21 43176840 43176847 PL21_HAEMATOPOI... 37 Frame_Shift_Del Del GCTTT... - uc002yzn.1 Hybrid_Cap...
ROBO2 3 77666937 77666937 PL21_HAEMATOPOI... 37 Intron Del A - rs78745603 uc003dpz.2 ROBO2_uc003dpy.... Hybrid_Cap...
RPGRIP1 p.S432F 14 21785998 21785998 PL21_HAEMATOPOI... 37 Missense_Mutation SNP C T uc001wag.2 RPGRIP1_uc001wa... Hybrid_Cap... view
RPL22 p.K15fs 1 6257784 6257785 PL21_HAEMATOPOI... 37 Frame_Shift_Ins Ins - T uc001amd.2 RPL22_uc001ame.... Hybrid_Cap...
RPS6KA5 14 91360733 91360734 PL21_HAEMATOPOI... 37 Intron Ins - T rs77438853 uc001xys.2 RPS6KA5_uc010tw... Hybrid_Cap...
SMC2 p.T1047A 9 106896726 106896726 PL21_HAEMATOPOI... 37 Missense_Mutation SNP A G uc004bbv.2 SMC2_uc004bbw.2... Hybrid_Cap... view
SNX19 p.C344F 11 130784804 130784804 PL21_HAEMATOPOI... 37 Missense_Mutation SNP C A uc001qgk.3 SNX19_uc010sce.... Hybrid_Cap... view
SSU72 1 1477324 1477325 PL21_HAEMATOPOI... 37 3'UTR Del CA - rs72502747 uc001agd.2 C1orf70_uc009vk... Hybrid_Cap...
STK31 7 23872024 23872025 PL21_HAEMATOPOI... 37 3'UTR Ins - TTTG rs66787534 uc003sws.3 STK31_uc003swt.... Hybrid_Cap...
TAB1 p.P222L 22 39813741 39813741 PL21_HAEMATOPOI... 37 Missense_Mutation SNP C T uc003axr.2 TAB1_uc003axt.2... Hybrid_Cap... view
TAF1L 9 32630062 32630062 PL21_HAEMATOPOI... 37 3'UTR Del C - uc003zrg.1 Hybrid_Cap...
TGFB3 p.T360M 14 76427267 76427267 PL21_HAEMATOPOI... 37 Missense_Mutation SNP G A uc001xsc.2 Hybrid_Cap... view
TLK1 2 171850178 171850179 PL21_HAEMATOPOI... 37 3'UTR Ins - AA rs71008739 uc002ugo.2 TLK1_uc002ugn.2... Hybrid_Cap...
TNIK p.R139W 3 170912316 170912316 PL21_HAEMATOPOI... 37 Missense_Mutation SNP G A uc003fhh.2 TNIK_uc003fhi.2... Hybrid_Cap... view
TP53 p.P36fs 17 7579580 7579580 PL21_HAEMATOPOI... 37 Frame_Shift_Del Del G - uc002gim.2 TP53_uc002gig.1... Hybrid_Cap...
TRPS1 p.R814L 8 116599487 116599487 PL21_HAEMATOPOI... 37 Missense_Mutation SNP C A uc003yny.2 TRPS1_uc011lhy.... Hybrid_Cap... view
TRPS1 8 116635872 116635873 PL21_HAEMATOPOI... 37 5'UTR Ins - A rs76893349 uc003yny.2 TRPS1_uc011lhy.... Hybrid_Cap...
TTN 2 179391639 179391640 PL21_HAEMATOPOI... 37 3'UTR Ins - T rs36037175 uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap...
UBE3B 12 109947357 109947358 PL21_HAEMATOPOI... 37 Intron Ins - T uc001top.2 UBE3B_uc001toq.... Hybrid_Cap...
VEGFC p.S419_splice 4 177605082 177605084 PL21_HAEMATOPOI... 37 Splice_Site_Del Del TCA - uc003ius.1 Hybrid_Cap...
WEE1 11 9603004 9603004 PL21_HAEMATOPOI... 37 Intron SNP G C uc001mhs.2 WEE1_uc001mht.2... Hybrid_Cap... view
XPO4 p.S498_splice 13 21382722 21382722 PL21_HAEMATOPOI... 37 Splice_Site_SNP SNP T A uc001unq.3 Hybrid_Cap... view
YSK4 p.L980P 2 135743503 135743503 PL21_HAEMATOPOI... 37 Missense_Mutation SNP A G uc002tue.1 YSK4_uc002tuf.1... Hybrid_Cap... view