Annotation Summary for Cell Line: KLE  

Cell line primary name: KLE
Cell line aliases:
Gender: F
Site Primary: endometrium
Histology: carcinoma
Hist Subtype1: adenocarcinoma
Notes:
Source: ATCC
Expression arrays: AGENT_p_NCLE_RNA6_HG-U133_Plus_2_B11_436604
SNP arrays: HONEY_p_NCLE_DNAAffy3_S_GenomeWideSNP_6_A08_293294
Oncomap: yes
Hybrid Capture Sequencing: yes


Mutations in KLE

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 KLE_ENDOMETRIUM 37 In_Frame_Del Del TGT - rs55712143 uc002sfp.2 AAK1_uc010fdk.2... Hybrid_Cap...
ABL2 1 179086419 179086420 KLE_ENDOMETRIUM 37 Intron Ins - A rs72207641 uc001gmj.3 ABL2_uc010pnf.1... Hybrid_Cap...
ADAM17 2 9630245 9630245 KLE_ENDOMETRIUM 37 3'UTR Del T - uc002qzu.2 IAH1_uc010yiz.1... Hybrid_Cap...
ADAM28 8 24211994 24211997 KLE_ENDOMETRIUM 37 3'UTR Del CTAT - rs10610134 uc003xdy.2 ADAM28_uc011laa... Hybrid_Cap...
ALPK2 p.EDTST1006del 18 56204388 56204402 KLE_ENDOMETRIUM 37 In_Frame_Del Del CAGTT... - rs60644017;rs117623369 uc002lhj.3 ALPK2_uc002lhk.... Hybrid_Cap...
ATRX X 76763680 76763680 KLE_ENDOMETRIUM 37 3'UTR Del A - uc004ecp.3 ATRX_uc004ecq.3... Hybrid_Cap...
BMP4 14 54416601 54416602 KLE_ENDOMETRIUM 37 3'UTR Ins - A rs74495140;rs76335800 uc001xal.3 BMP4_uc010aoh.2... Hybrid_Cap...
CABC1 1 227171585 227171585 KLE_ENDOMETRIUM 37 Intron Del T - uc001hqm.1 CABC1_uc001hqn.... Hybrid_Cap...
CABC1 1 227171736 227171737 KLE_ENDOMETRIUM 37 Intron Ins - T rs1574184 uc001hqm.1 CABC1_uc001hqn.... Hybrid_Cap...
CACNB2 10 18828721 18828722 KLE_ENDOMETRIUM 37 3'UTR Ins - AA rs3841459 uc001ipr.2 CACNB2_uc009xjz... Hybrid_Cap...
CCR5 p.S63C 3 46414580 46414580 KLE_ENDOMETRIUM 37 Missense_Mutation SNP A T uc003cpo.3 CCR5_uc010hjd.2... Hybrid_Cap... view
CDK11B 1 1654066 1654068 KLE_ENDOMETRIUM 37 Intron Del GCG - uc001agv.1 CDK11B_uc001aha... Hybrid_Cap...
CDK7 5 68551648 68551648 KLE_ENDOMETRIUM 37 Intron SNP G A uc003jvs.3 CDK7_uc010ixd.1... Hybrid_Cap... view
CHD8 14 21853630 21853630 KLE_ENDOMETRIUM 37 3'UTR Del T - rs78520772 uc001was.1 CHD8_uc001war.1... Hybrid_Cap...
CLTCL1 p.V1201_splice 22 19189003 19189004 KLE_ENDOMETRIUM 37 Splice_Site_Ins Ins - C rs11386977 uc002zpb.2 CLTCL1_uc011agv... Hybrid_Cap...
CNTN1 p.P762S 12 41410583 41410583 KLE_ENDOMETRIUM 37 Missense_Mutation SNP C T uc001rmm.1 CNTN1_uc001rmn.... Hybrid_Cap... view
CNTN5 p.W994* 11 100211889 100211889 KLE_ENDOMETRIUM 37 Nonsense_Mutation SNP G A uc001pga.2 CNTN5_uc001pgb.... Hybrid_Cap... view
CNTN6 3 1339681 1339686 KLE_ENDOMETRIUM 37 Intron Del GTTTT... - uc003boz.2 CNTN6_uc010hbo.... Hybrid_Cap...
CREB3L2 p.T100del 7 137612914 137612916 KLE_ENDOMETRIUM 37 In_Frame_Del Del TGG - uc003vtw.2 CREB3L2_uc003vt... Hybrid_Cap...
DFNA5 7 24783982 24783982 KLE_ENDOMETRIUM 37 Intron Del C - uc010kus.1 DFNA5_uc003swz.... Hybrid_Cap...
DNMT1 p.D1632H 19 10244348 10244348 KLE_ENDOMETRIUM 37 Missense_Mutation SNP C G uc010xlc.1 DNMT1_uc002mne.... Hybrid_Cap... view
DRD2 11 113285077 113285077 KLE_ENDOMETRIUM 37 Intron SNP T C uc001pnz.2 DRD2_uc010rwv.1... Hybrid_Cap... view
DST 6 56480052 56480053 KLE_ENDOMETRIUM 37 Intron Ins - AA rs71687626 uc003pdf.2 DST_uc003pcz.3_... Hybrid_Cap...
EDNRB 13 78472157 78472157 KLE_ENDOMETRIUM 37 3'UTR SNP G A uc001vkp.1 EDNRB_uc001vkq.... Hybrid_Cap... view
EPHA6 3 97367230 97367231 KLE_ENDOMETRIUM 37 Intron Ins - A rs115253553 uc010how.1 EPHA6_uc003drs.... Hybrid_Cap...
ERN2 p.R576H 16 23707242 23707242 KLE_ENDOMETRIUM 37 Missense_Mutation SNP C T uc002dma.3 ERN2_uc010bxp.2... Hybrid_Cap... view
ETV1 7 14028708 14028708 KLE_ENDOMETRIUM 37 5'UTR Del A - rs77190713 uc011jxq.1 ETV1_uc011jxn.1... Hybrid_Cap...
FBXW7 p.R479Q 4 153247366 153247366 KLE_ENDOMETRIUM 37 Missense_Mutation SNP C T uc003ims.2 FBXW7_uc011cii.... Hybrid_Cap... view
FGFR1OP 6 167453519 167453520 KLE_ENDOMETRIUM 37 3'UTR Ins - T rs115519488 uc003qvj.2 CCR6_uc003qvl.2... Hybrid_Cap...
FGFR3 4 1809128 1809129 KLE_ENDOMETRIUM 37 3'UTR Del GT - uc003gdu.2 FGFR3_uc003gdr.... Hybrid_Cap...
FLI1 11 128638217 128638217 KLE_ENDOMETRIUM 37 Intron Del G - uc010sbu.1 FLI1_uc010sbt.1... Hybrid_Cap...
FN1 2 216244182 216244185 KLE_ENDOMETRIUM 37 Intron Del GTAC - uc002vfa.2 FN1_uc002vfb.2_... Hybrid_Cap...
GMPS 3 155588592 155588592 KLE_ENDOMETRIUM 37 5'UTR SNP C T uc003faq.2 GMPS_uc011bom.1... Hybrid_Cap... view
GNAS p.S571R 20 57430031 57430031 KLE_ENDOMETRIUM 37 Missense_Mutation SNP A C uc002xzw.2 GNAS_uc002xzt.2... Hybrid_Cap... view
GPR112 p.D2657del X 135474445 135474447 KLE_ENDOMETRIUM 37 In_Frame_Del Del GAT - rs3030295 uc004ezu.1 GPR112_uc010nsb... Hybrid_Cap...
GRIA3 X 122318386 122318387 KLE_ENDOMETRIUM 37 Splice_Site_Ins Ins - G rs66632982 uc004etq.3 GRIA3_uc004etr.... Hybrid_Cap...
GUCY2C 12 14827464 14827466 KLE_ENDOMETRIUM 37 Intron Del ATC - rs72525754;rs3083879 uc001rcd.2 GUCY2C_uc009zhz... Hybrid_Cap...
HDLBP p.K568N 2 242187445 242187445 KLE_ENDOMETRIUM 37 Missense_Mutation SNP T A uc002waz.2 HDLBP_uc002wba.... Hybrid_Cap... view
HIF1A 14 62213929 62213930 KLE_ENDOMETRIUM 37 3'UTR Ins - T rs67890419 uc001xfs.2 HIF1A_uc001xfq.... Hybrid_Cap...
HMMR p.L389S 5 162902576 162902576 KLE_ENDOMETRIUM 37 Missense_Mutation SNP T C uc003lzh.2 HMMR_uc003lzf.2... Hybrid_Cap... view
HNF1A 12 121434630 121434631 KLE_ENDOMETRIUM 37 Intron Ins - TCATTCAT rs75100977 uc010szn.1 HNF1A_uc001tze.... Hybrid_Cap...
HSP90B1 p.E791del 12 104341188 104341190 KLE_ENDOMETRIUM 37 In_Frame_Del Del GAA - rs117491163 uc001tkb.1 HSP90B1_uc010sw... Hybrid_Cap...
IL21R 16 27460779 27460780 KLE_ENDOMETRIUM 37 3'UTR Ins - TG rs66690088 uc002doq.1 IL21R_uc002dor.... Hybrid_Cap...
ILK 11 6630029 6630029 KLE_ENDOMETRIUM 37 Intron Del C - uc001mee.2 ILK_uc001mef.2_... Hybrid_Cap...
ISG15 1 948846 948847 KLE_ENDOMETRIUM 37 5'UTR Ins - A rs33916361 uc001acj.3 Hybrid_Cap...
ITPR2 p.R470_splice 12 26834804 26834805 KLE_ENDOMETRIUM 37 Splice_Site_Ins Ins - ACTC rs66696203;rs59199365 uc001rhg.2 Hybrid_Cap...
KLK7 19 51480672 51480675 KLE_ENDOMETRIUM 37 3'UTR Del GGTT - uc002puo.2 KLK7_uc002pup.2... Hybrid_Cap...
LAMP1 p.Y54C 13 113960899 113960899 KLE_ENDOMETRIUM 37 Missense_Mutation SNP A G uc001vtm.1 LAMP1_uc010tka.... Hybrid_Cap... view
LMNA 1 156109095 156109095 KLE_ENDOMETRIUM 37 3'UTR Del A - uc001fni.2 LMNA_uc001fnh.2... Hybrid_Cap...
LPP p.R507C 3 188584096 188584096 KLE_ENDOMETRIUM 37 Missense_Mutation SNP C T uc003frs.1 LPP_uc011bsg.1_... Hybrid_Cap... view
LRP1 p.G3016S 12 57590918 57590918 KLE_ENDOMETRIUM 37 Missense_Mutation SNP G A uc001snd.2 Hybrid_Cap... view
MAML3 p.Q767_splice 4 140651585 140651587 KLE_ENDOMETRIUM 37 Splice_Site_Del Del CTG - uc003ihz.1 MGST2_uc010ioi.... Hybrid_Cap...
MAP3K1 p.T949del 5 56177849 56177851 KLE_ENDOMETRIUM 37 In_Frame_Del Del CAA - uc003jqw.3 Hybrid_Cap...
MAP3K14 p.R218_splice 17 43364293 43364294 KLE_ENDOMETRIUM 37 Splice_Site_Ins Ins - G rs66766023 uc002iiw.1 MAP3K14_uc010da... Hybrid_Cap...
MCM3APAS 21 47671275 47671276 KLE_ENDOMETRIUM 37 3'UTR Ins - AAT rs67797185 uc002zin.2 MCM3APAS_uc002z... Hybrid_Cap...
MLLT6 17 36881873 36881873 KLE_ENDOMETRIUM 37 3'UTR Del C - uc002hqi.3 MLLT6_uc002hqk.... Hybrid_Cap...
MSH3 p.PPA66del 5 79950742 79950750 KLE_ENDOMETRIUM 37 In_Frame_Del Del CCCCC... - rs60484572;rs1047489 uc003kgz.2 DHFR_uc011ctl.1... Hybrid_Cap...
MYLK 3 123332875 123332876 KLE_ENDOMETRIUM 37 3'UTR Ins - TT rs35930843;rs115544676 uc003ego.2 MYLK_uc003egl.2... Hybrid_Cap...
NCAM1 11 112832307 112832308 KLE_ENDOMETRIUM 37 5'UTR Ins - A rs117108942 uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCAM1 11 112832340 112832340 KLE_ENDOMETRIUM 37 5'UTR Del C - uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCOA3 p.Q1276del 20 46279837 46279839 KLE_ENDOMETRIUM 37 In_Frame_Del Del CAG - rs2664555 uc002xtk.2 NCOA3_uc010ght.... Hybrid_Cap...
NFIA 1 61921185 61921186 KLE_ENDOMETRIUM 37 3'UTR Ins - T rs57270124;rs76131997 uc010oos.1 NFIA_uc001czy.2... Hybrid_Cap...
PAX3 2 223158653 223158653 KLE_ENDOMETRIUM 37 Intron Del T - rs112753212 uc002vmt.1 PAX3_uc002vmy.1... Hybrid_Cap...
PAX5 9 37034242 37034242 KLE_ENDOMETRIUM 37 5'UTR SNP G T rs111234296 uc003zzo.1 PAX5_uc011lpw.1... Hybrid_Cap... view
PDE4DIP p.E243fs 1 144923729 144923729 KLE_ENDOMETRIUM 37 Frame_Shift_Del Del T - uc001elw.3 NBPF10_uc009wir... Hybrid_Cap...
PDZRN4 12 41967795 41967795 KLE_ENDOMETRIUM 37 3'UTR SNP A G uc010skn.1 PDZRN4_uc001rmq... Hybrid_Cap... view
PGGT1B 5 114548071 114548072 KLE_ENDOMETRIUM 37 3'UTR Ins - C uc003kqw.3 PGGT1B_uc003kqx... Hybrid_Cap...
PGR 11 100933598 100933599 KLE_ENDOMETRIUM 37 Intron Ins - AATGA rs35148438 uc001pgh.2 PGR_uc001pgg.2_... Hybrid_Cap...
PIK3C2B p.G750S 1 204418411 204418411 KLE_ENDOMETRIUM 37 Missense_Mutation SNP C T rs114917235 uc001haw.2 PIK3C2B_uc010pq... Hybrid_Cap... view
PIK3C2G p.P129del 12 18435399 18435401 KLE_ENDOMETRIUM 37 In_Frame_Del Del CCC - uc010sib.1 PIK3C2G_uc001rd... Hybrid_Cap...
PKDCC p.T149A 2 42275784 42275784 KLE_ENDOMETRIUM 37 Missense_Mutation SNP A G uc002rsg.2 Hybrid_Cap... view
PMS1 p.P5P 2 190656550 190656550 KLE_ENDOMETRIUM 37 Silent SNP T C uc002urh.3 PMS1_uc010zga.1... Hybrid_Cap... view
PMS1 2 190742315 190742315 KLE_ENDOMETRIUM 37 3'UTR SNP C T uc002urh.3 PMS1_uc002urk.3... Hybrid_Cap... view
PRKCA 17 64298959 64298960 KLE_ENDOMETRIUM 37 5'UTR Ins - G rs71160558 uc002jfp.1 PRKCA_uc002jfo.... Hybrid_Cap...
PRKDC p.L1244fs 8 48805816 48805817 KLE_ENDOMETRIUM 37 Frame_Shift_Ins Ins - G rs67588121 uc003xqi.2 PRKDC_uc003xqj.... Hybrid_Cap...
RBPJ 4 26431822 26431822 KLE_ENDOMETRIUM 37 Intron Del A - rs76214390 uc003grx.1 RBPJ_uc003gry.1... Hybrid_Cap...
RECQL4 p.R766fs 8 145738768 145738768 KLE_ENDOMETRIUM 37 Frame_Shift_Del Del G - uc003zdj.2 Hybrid_Cap...
RPS6KA5 14 91360733 91360734 KLE_ENDOMETRIUM 37 Intron Ins - T rs77438853 uc001xys.2 RPS6KA5_uc010tw... Hybrid_Cap...
SIRT1 10 69676547 69676548 KLE_ENDOMETRIUM 37 3'UTR Ins - T rs61666042 uc001jnd.2 SIRT1_uc010qis.... Hybrid_Cap...
SLC6A8 X 152957656 152957657 KLE_ENDOMETRIUM 37 Intron Ins - A uc004fib.3 SLC6A8_uc004fic... Hybrid_Cap...
SLK p.Q405* 10 105762149 105762149 KLE_ENDOMETRIUM 37 Nonsense_Mutation SNP C T uc001kxo.1 SLK_uc001kxp.1_... Hybrid_Cap... view
SNX19 p.K781R 11 130775949 130775949 KLE_ENDOMETRIUM 37 Missense_Mutation SNP T C uc001qgk.3 SNX19_uc009zcw.... Hybrid_Cap... view
STK25 2 242435659 242435662 KLE_ENDOMETRIUM 37 Intron Del AAGG - rs3215138;rs75497042 uc002wbm.2 STK25_uc002wbk.... Hybrid_Cap...
STK31 7 23872024 23872025 KLE_ENDOMETRIUM 37 3'UTR Ins - TTTG rs66787534 uc003sws.3 STK31_uc003swt.... Hybrid_Cap...
STK38L 12 27470756 27470756 KLE_ENDOMETRIUM 37 Intron SNP G A uc001rhr.2 STK38L_uc001rhs... Hybrid_Cap... view
TAF1 p.G680V X 70603843 70603843 KLE_ENDOMETRIUM 37 Missense_Mutation SNP G T uc004dzt.3 BCYRN1_uc011mpt... Hybrid_Cap... view
TEC 4 48139307 48139310 KLE_ENDOMETRIUM 37 3'UTR Del TTAT - rs79098351 uc003gxz.2 Hybrid_Cap...
TLE1 p.V385F 9 84226815 84226815 KLE_ENDOMETRIUM 37 Missense_Mutation SNP C A uc004alz.2 TLE1_uc004aly.2... Hybrid_Cap... view
TMEM123 11 102269398 102269398 KLE_ENDOMETRIUM 37 3'UTR Del G - uc001pha.2 TMEM123_uc009yx... Hybrid_Cap...
TNRC6B p.Q1328del 22 40697177 40697179 KLE_ENDOMETRIUM 37 In_Frame_Del Del GCA - rs114291931 uc011aor.1 TNRC6B_uc003aym... Hybrid_Cap...
TP53 p.R175H 17 7578406 7578406 KLE_ENDOMETRIUM 37 Missense_Mutation SNP C T rs28934578 uc002gim.2 TP53_uc002gig.1... Hybrid_Cap... view
TRIM33 1 114940215 114940216 KLE_ENDOMETRIUM 37 3'UTR Ins - G rs68133208 uc001eew.2 TRIM33_uc010owr... Hybrid_Cap...
TRPS1 8 116635872 116635873 KLE_ENDOMETRIUM 37 5'UTR Ins - A rs76893349 uc003yny.2 TRPS1_uc011lhy.... Hybrid_Cap...
TTBK1 p.E771del 6 43250726 43250728 KLE_ENDOMETRIUM 37 In_Frame_Del Del GAA - uc003ouq.1 Hybrid_Cap...
TTN 2 179391639 179391640 KLE_ENDOMETRIUM 37 3'UTR Ins - T rs36037175 uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap...
TTN p.D11273N 2 179500777 179500777 KLE_ENDOMETRIUM 37 Missense_Mutation SNP C T uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
VEGFC p.S419_splice 4 177605082 177605084 KLE_ENDOMETRIUM 37 Splice_Site_Del Del TCA - uc003ius.1 Hybrid_Cap...