Annotation Summary for Cell Line: SK-ES-1  

Cell line primary name: SK-ES-1
Cell line aliases:
Gender: M
Site Primary: bone
Histology: Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour
Hist Subtype1: NS
Notes:
Source: ATCC
Expression arrays: CASED_p_NCLE_RNA4_HG-U133_Plus_2_H04_383762
SNP arrays: FIEFS_p_NCLE_DNA_Affy5_GenomeWideSNP_6_G04_410952
Oncomap: yes
Hybrid Capture Sequencing: yes


Mutations in SK-ES-1

GeneProtein
Change
ChrStartEnd SampleNCBI
Build
Variant
Classification
Variant TypeReference
Allele
Tumor
Allele 1
dbSNP IDAnnotation
Transcript
Other
Transcripts
Method View
Reads
Mutation
Assessor
ADAM17 2 9630245 9630245 SKES1_BONE 37 3'UTR Del T - uc002qzu.2 IAH1_uc010yiz.1... Hybrid_Cap...
ADAM28 8 24211994 24211997 SKES1_BONE 37 3'UTR Del CTAT - rs10610134 uc003xdy.2 ADAM28_uc011laa... Hybrid_Cap...
ADCK1 14 78390632 78390637 SKES1_BONE 37 Intron Del AAACT... - rs78274857;rs74969652 uc001xui.2 ADCK1_uc010tvo.... Hybrid_Cap...
AKAP12 p.1531_1532insE 6 151674116 151674117 SKES1_BONE 37 In_Frame_Ins Ins - GAG rs34737819 uc011eep.1 AKAP12_uc003qoe... Hybrid_Cap...
ALPK2 p.EDTST1006del 18 56204388 56204402 SKES1_BONE 37 In_Frame_Del Del CAGTT... - rs60644017;rs117623369 uc002lhj.3 ALPK2_uc002lhk.... Hybrid_Cap...
APC p.2122_2123insA 5 112177642 112177643 SKES1_BONE 37 In_Frame_Ins Ins - GCT uc010jby.2 APC_uc011cvt.1_... Hybrid_Cap...
AURKC 19 57742494 57742507 SKES1_BONE 37 5'UTR Del GGACG... - rs67926438;rs112039303;rs59094959 uc002qoe.2 AURKC_uc002qoc.... Hybrid_Cap...
BCR 22 23631813 23631814 SKES1_BONE 37 Intron Ins - C rs66503844 uc002zww.2 BCR_uc002zwx.2_... Hybrid_Cap...
BCR 22 23632777 23632778 SKES1_BONE 37 Intron Ins - T uc002zww.2 BCR_uc002zwx.2_... Hybrid_Cap...
CAMK2A 5 149602223 149602224 SKES1_BONE 37 3'UTR Del AC - uc003lrt.2 CAMK2A_uc003lrs... Hybrid_Cap...
CASC5 15 40954532 40954532 SKES1_BONE 37 3'UTR SNP A G uc010bbs.1 CASC5_uc010bbt.... Hybrid_Cap... view
CHD5 p.L47H 1 6228277 6228277 SKES1_BONE 37 Missense_Mutation SNP A T uc001amb.1 Hybrid_Cap... view
CLK4 p.G171G 5 178043912 178043912 SKES1_BONE 37 Silent SNP G C uc003mjf.1 CLK4_uc003mjg.1... Hybrid_Cap... view
CLTCL1 p.V1201_splice 22 19189003 19189004 SKES1_BONE 37 Splice_Site_Ins Ins - C rs11386977 uc002zpb.2 CLTCL1_uc011agv... Hybrid_Cap...
CYP1B1 p.Y249S 2 38301786 38301786 SKES1_BONE 37 Missense_Mutation SNP T G uc002rqo.2 Hybrid_Cap... view
DDR2 1 162750211 162750212 SKES1_BONE 37 3'UTR Del TT - uc001gcf.2 DDR2_uc001gcg.2... Hybrid_Cap...
DNMT1 p.V937fs 19 10257106 10257110 SKES1_BONE 37 Frame_Shift_Del Del AGAGG - uc010xlc.1 DNMT1_uc002mnf.... Hybrid_Cap...
EIF2AK1 p.I604T 7 6064386 6064386 SKES1_BONE 37 Missense_Mutation SNP A G uc003spp.2 EIF2AK1_uc003sp... Hybrid_Cap... view
EML4 p.Y702C 2 42544615 42544615 SKES1_BONE 37 Missense_Mutation SNP A G uc002rsi.2 EML4_uc010fap.2... Hybrid_Cap... view
EPHA6 3 97367230 97367231 SKES1_BONE 37 Intron Ins - A rs115253553 uc010how.1 EPHA6_uc003drs.... Hybrid_Cap...
ETV1 7 14028708 14028708 SKES1_BONE 37 5'UTR Del A - rs77190713 uc011jxq.1 ETV1_uc011jxn.1... Hybrid_Cap...
EWSR1 22 29687480 29687481 SKES1_BONE 37 Intron Ins - C rs66871950 uc003aev.2 EWSR1_uc003aet.... Hybrid_Cap...
FGFR1OP 6 167453519 167453520 SKES1_BONE 37 3'UTR Ins - T rs115519488 uc003qvj.2 CCR6_uc003qvl.2... Hybrid_Cap...
FGFR3 4 1809128 1809129 SKES1_BONE 37 3'UTR Del GT - uc003gdu.2 FGFR3_uc003gdr.... Hybrid_Cap...
FLI1 11 128638217 128638217 SKES1_BONE 37 Intron Del G - uc010sbu.1 FLI1_uc010sbt.1... Hybrid_Cap...
FMN2 p.G59del 1 240255569 240255571 SKES1_BONE 37 In_Frame_Del Del GGC - uc010pye.1 FMN2_uc010pyd.1... Hybrid_Cap...
FMN2 p.PPLPGAGIPPP939del 1 240370914 240370946 SKES1_BONE 37 In_Frame_Del Del GCCCC... - rs4997328;rs4997329 uc010pye.1 FMN2_uc010pyd.1... Hybrid_Cap...
FN1 2 216244182 216244185 SKES1_BONE 37 Intron Del GTAC - uc002vfa.2 FN1_uc002vfb.2_... Hybrid_Cap...
FZD1 p.93_94insP 7 90894459 90894460 SKES1_BONE 37 In_Frame_Ins Ins - CCG uc003ula.2 Hybrid_Cap...
GRIA3 X 122318386 122318387 SKES1_BONE 37 Splice_Site_Ins Ins - G rs66632982 uc004etq.3 GRIA3_uc004etr.... Hybrid_Cap...
GUCY2C 12 14827464 14827466 SKES1_BONE 37 Intron Del ATC - rs72525754;rs3083879 uc001rcd.2 GUCY2C_uc009zhz... Hybrid_Cap...
HNF1A 12 121434630 121434631 SKES1_BONE 37 Intron Ins - TCATTCAT rs75100977 uc010szn.1 HNF1A_uc001tze.... Hybrid_Cap...
ILK 11 6630029 6630029 SKES1_BONE 37 Intron Del C - uc001mee.2 ILK_uc001mef.2_... Hybrid_Cap...
ITGAV p.A243V 2 187500905 187500905 SKES1_BONE 37 Missense_Mutation SNP C T uc002upq.2 ITGAV_uc010frs.... Hybrid_Cap... view
JAG1 20 10620073 10620073 SKES1_BONE 37 3'UTR SNP C T uc002wnw.2 Hybrid_Cap... view
LRRK2 p.R493C 12 40653340 40653340 SKES1_BONE 37 Missense_Mutation SNP C T uc001rmg.3 LRRK2_uc001rmh.... Hybrid_Cap... view
MAML3 p.Q767_splice 4 140651585 140651587 SKES1_BONE 37 Splice_Site_Del Del CTG - uc003ihz.1 MGST2_uc010ioi.... Hybrid_Cap...
MAP3K1 p.T949del 5 56177849 56177851 SKES1_BONE 37 In_Frame_Del Del CAA - uc003jqw.3 Hybrid_Cap...
MAP3K12 p.K525R 12 53877172 53877172 SKES1_BONE 37 Missense_Mutation SNP T C uc001sdn.1 MAP3K12_uc001sd... Hybrid_Cap... view
MAP3K14 p.R218_splice 17 43364293 43364294 SKES1_BONE 37 Splice_Site_Ins Ins - G rs66766023 uc002iiw.1 MAP3K14_uc010da... Hybrid_Cap...
MAPK14 6 36076345 36076354 SKES1_BONE 37 3'UTR Del GTGTG... - rs80147786 uc003olp.2 MAPK14_uc003olq... Hybrid_Cap...
MLLT3 9 20346377 20346378 SKES1_BONE 37 3'UTR Ins - A rs66943046 uc003zoe.2 MLLT3_uc011lne.... Hybrid_Cap...
MMP8 11 102583935 102583935 SKES1_BONE 37 3'UTR SNP C T uc001phe.2 MMP8_uc010rut.1... Hybrid_Cap... view
MMP9 20 44645067 44645067 SKES1_BONE 37 3'UTR SNP G A uc002xqz.2 Hybrid_Cap... view
MYCN p.T6T 2 16082204 16082204 SKES1_BONE 37 Silent SNP G A uc002rci.2 MYCNOS_uc002rch... Hybrid_Cap... view
MYLK p.S1472_splice 3 123367817 123367817 SKES1_BONE 37 Splice_Site_SNP SNP C T uc003ego.2 MYLK_uc010hrr.2... Hybrid_Cap... view
MYST4 p.E1104del 10 76781906 76781908 SKES1_BONE 37 In_Frame_Del Del GAA - rs79644703 uc001jwn.1 MYST4_uc001jwm.... Hybrid_Cap...
MYST4 10 76790935 76790936 SKES1_BONE 37 3'UTR Ins - A rs3832681 uc001jwn.1 MYST4_uc001jwo.... Hybrid_Cap...
NCAM1 11 112832307 112832308 SKES1_BONE 37 5'UTR Ins - A rs117108942 uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCAM1 11 112832340 112832340 SKES1_BONE 37 5'UTR Del C - uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCOA3 p.Q1276del 20 46279837 46279839 SKES1_BONE 37 In_Frame_Del Del CAG - rs2664555 uc002xtk.2 NCOA3_uc010ght.... Hybrid_Cap...
NEK3 p.K313_splice 13 52718050 52718051 SKES1_BONE 37 Splice_Site_Ins Ins - T rs72514762 uc001vgh.2 NEK3_uc001vgg.2... Hybrid_Cap...
NFATC1 p.E599D 18 77211710 77211710 SKES1_BONE 37 Missense_Mutation SNP G T uc010xfg.1 NFATC1_uc002lnc... Hybrid_Cap... view
NFIA 1 61921185 61921186 SKES1_BONE 37 3'UTR Ins - T rs57270124;rs76131997 uc010oos.1 NFIA_uc001czy.2... Hybrid_Cap...
NPR1 1 153665919 153665920 SKES1_BONE 37 3'UTR Ins - C rs66682713 uc001fcs.3 NPR1_uc010pdz.1... Hybrid_Cap...
NR1H2 p.176_177insQ 19 50881820 50881821 SKES1_BONE 37 In_Frame_Ins Ins - AAC rs66783852;rs112359270 uc010enw.2 NR1H2_uc002prv.... Hybrid_Cap...
PDE4DIP p.Q1665fs 1 144873963 144873963 SKES1_BONE 37 Frame_Shift_Del Del T - uc001elw.3 NBPF10_uc009wir... Hybrid_Cap...
PDE4DIP p.V486fs 1 144917828 144917828 SKES1_BONE 37 Frame_Shift_Del Del A - uc001elw.3 NBPF10_uc009wir... Hybrid_Cap...
PIK3C2G p.P129del 12 18435399 18435401 SKES1_BONE 37 In_Frame_Del Del CCC - uc010sib.1 PIK3C2G_uc001rd... Hybrid_Cap...
PMS1 2 190670539 190670540 SKES1_BONE 37 Intron Ins - A rs3214425 uc002urh.3 PMS1_uc010zga.1... Hybrid_Cap...
PRKCI 3 170021051 170021051 SKES1_BONE 37 3'UTR SNP A G uc003fgs.2 PRKCI_uc003fgt.... Hybrid_Cap... view
PRKDC p.L1244fs 8 48805816 48805817 SKES1_BONE 37 Frame_Shift_Ins Ins - G rs67588121 uc003xqi.2 PRKDC_uc003xqj.... Hybrid_Cap...
PSKH2 p.S241R 8 87076323 87076323 SKES1_BONE 37 Missense_Mutation SNP A C uc011lfy.1 Hybrid_Cap... view
PTCH1 p.G38V 9 98270531 98270531 SKES1_BONE 37 Missense_Mutation SNP C A uc004avk.3 PTCH1_uc010mro.... Hybrid_Cap... view
RAD51L1 p.D91D 14 68301871 68301871 SKES1_BONE 37 Silent SNP C T rs61987495 uc010aqs.1 RAD51L1_uc010aq... Hybrid_Cap... view
RASGRF1 15 79277150 79277151 SKES1_BONE 37 Intron Ins - C rs67045840;rs77640668 uc002beq.2 RASGRF1_uc002be... Hybrid_Cap...
RECQL4 p.R766fs 8 145738768 145738768 SKES1_BONE 37 Frame_Shift_Del Del G - uc003zdj.2 Hybrid_Cap...
RECQL4 p.P103L 8 145742480 145742480 SKES1_BONE 37 Missense_Mutation SNP G A uc003zdj.2 LRRC14_uc003zdk... Hybrid_Cap... view
RICTOR p.V1003L 5 38952418 38952418 SKES1_BONE 37 Missense_Mutation SNP C A uc003jlo.2 RICTOR_uc003jlp... Hybrid_Cap... view
RIF1 p.A2031G 2 152322126 152322126 SKES1_BONE 37 Missense_Mutation SNP C G uc002txm.2 RIF1_uc002txl.2... Hybrid_Cap... view
RPS6KL1 14 75373626 75373627 SKES1_BONE 37 3'UTR Ins - TGAT uc001xqx.1 RPS6KL1_uc001xq... Hybrid_Cap...
RPS6KL1 14 75377774 75377774 SKES1_BONE 37 Intron SNP T C uc010tux.1 RPS6KL1_uc001xq... Hybrid_Cap... view
RUNX2 p.P296L 6 45480010 45480010 SKES1_BONE 37 Missense_Mutation SNP C T uc011dvx.1 RUNX2_uc011dvy.... Hybrid_Cap... view
SOX2 p.M217I 3 181430799 181430799 SKES1_BONE 37 Missense_Mutation SNP G T uc003fkx.2 SOX2OT_uc003fkv... Hybrid_Cap... view
SPTAN1 p.E2433K 9 131395223 131395223 SKES1_BONE 37 Missense_Mutation SNP G A uc004bvm.3 SPTAN1_uc004bvl... Hybrid_Cap... view
STAT5A 17 40462797 40462800 SKES1_BONE 37 3'UTR Del TGTG - uc002hzj.1 STAT5A_uc010cya... Hybrid_Cap...
STK25 2 242435659 242435662 SKES1_BONE 37 Intron Del AAGG - rs3215138;rs75497042 uc002wbm.2 STK25_uc002wbk.... Hybrid_Cap...
STK31 7 23872024 23872025 SKES1_BONE 37 3'UTR Ins - TTTG rs66787534 uc003sws.3 STK31_uc003swt.... Hybrid_Cap...
STK36 p.S553R 2 219555173 219555173 SKES1_BONE 37 Missense_Mutation SNP C G uc002viu.2 STK36_uc002viv.... Hybrid_Cap... view
TCF21 6 134210497 134210498 SKES1_BONE 37 5'UTR Ins - TCTC rs35199378 uc003qei.3 TCF21_uc003qej.... Hybrid_Cap...
TEC 4 48139307 48139310 SKES1_BONE 37 3'UTR Del TTAT - rs79098351 uc003gxz.2 Hybrid_Cap...
TMEM123 11 102269461 102269461 SKES1_BONE 37 3'UTR Del G - uc001pha.2 TMEM123_uc009yx... Hybrid_Cap...
TNRC6B p.Q1328del 22 40697177 40697179 SKES1_BONE 37 In_Frame_Del Del GCA - rs114291931 uc011aor.1 TNRC6B_uc003aym... Hybrid_Cap...
TP53 p.C176F 17 7578403 7578403 SKES1_BONE 37 Missense_Mutation SNP C A uc002gim.2 TP53_uc002gig.1... Hybrid_Cap... view
TRIM33 1 114940211 114940212 SKES1_BONE 37 3'UTR Ins - T rs66490349 uc001eew.2 TRIM33_uc010owr... Hybrid_Cap...
TRPS1 8 116635872 116635873 SKES1_BONE 37 5'UTR Ins - A rs76893349 uc003yny.2 TRPS1_uc011lhy.... Hybrid_Cap...
TTN 2 179391639 179391640 SKES1_BONE 37 3'UTR Ins - T rs36037175 uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap...
TTN p.Y26704C 2 179422174 179422174 SKES1_BONE 37 Missense_Mutation SNP T C uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
VEGFC p.S419_splice 4 177605082 177605084 SKES1_BONE 37 Splice_Site_Del Del TCA - uc003ius.1 Hybrid_Cap...