Annotation Summary for Cell Line: CADO-ES1  

Cell line primary name: CADO-ES1
Cell line aliases:
Gender: F
Site Primary: bone
Histology: Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour
Hist Subtype1: NS
Notes:
Source: DSMZ
Expression arrays: WATCH_p_NCLE_RNA8_HG-U133_Plus_2_D08_474656
SNP arrays: CHARY_p_NCLE_DNAAffy9_GenomeWideSNP_6_E12_490484
Oncomap: yes
Hybrid Capture Sequencing: yes


Mutations in CADO-ES1

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 CADOES1_BONE 37 In_Frame_Del Del TGT - rs55712143 uc002sfp.2 AAK1_uc010fdk.2... Hybrid_Cap...
ACVRL1 p.H312Q 12 52309172 52309172 CADOES1_BONE 37 Missense_Mutation SNP C G uc001rzj.2 ACVRL1_uc001rzk... Hybrid_Cap... view
ADAM28 8 24211994 24211997 CADOES1_BONE 37 3'UTR Del CTAT - rs10610134 uc003xdy.2 ADAM28_uc011laa... Hybrid_Cap...
ADCK1 14 78390632 78390637 CADOES1_BONE 37 Intron Del AAACT... - rs78274857;rs74969652 uc001xui.2 ADCK1_uc010tvo.... Hybrid_Cap...
AKAP9 p.1335_1336insQ 7 91652178 91652179 CADOES1_BONE 37 In_Frame_Ins Ins - AAC rs34756483 uc003ulg.2 AKAP9_uc003ule.... Hybrid_Cap...
AR p.T282S X 66765833 66765833 CADOES1_BONE 37 Missense_Mutation SNP C G uc004dwu.1 AR_uc011mpd.1_M... Hybrid_Cap... view
ATF1 p.K263M 12 51213534 51213534 CADOES1_BONE 37 Missense_Mutation SNP A T uc001rww.3 ATF1_uc010smu.1... Hybrid_Cap... view
ATP13A5 p.M476I 3 193048945 193048945 CADOES1_BONE 37 Missense_Mutation SNP C A uc011bsq.1 Hybrid_Cap... view
ATRX X 76763816 76763816 CADOES1_BONE 37 3'UTR SNP T C uc004ecp.3 ATRX_uc004ecq.3... Hybrid_Cap... view
AURKC 19 57742494 57742507 CADOES1_BONE 37 5'UTR Del GGACG... - rs67926438;rs112039303;rs59094959 uc002qoe.2 AURKC_uc002qoc.... Hybrid_Cap...
BAX 19 49464486 49464486 CADOES1_BONE 37 3'UTR Del C - uc002plf.1 BAX_uc002plg.1_... Hybrid_Cap...
BRCA2 p.S2616F 13 32936701 32936701 CADOES1_BONE 37 Missense_Mutation SNP C T uc001uub.1 Hybrid_Cap... view
C6ORF97 6 151939461 151939461 CADOES1_BONE 37 3'UTR SNP C T uc003qol.2 Hybrid_Cap... view
C6ORF97 6 151939536 151939536 CADOES1_BONE 37 3'UTR SNP T C uc003qol.2 Hybrid_Cap... view
CACNB2 10 18828721 18828722 CADOES1_BONE 37 3'UTR Ins - AA rs3841459 uc001ipr.2 CACNB2_uc009xjz... Hybrid_Cap...
CARD10 p.KE272del 22 37906309 37906314 CADOES1_BONE 37 In_Frame_Del Del CTCCT... - uc003asx.1 CARD10_uc003ast... Hybrid_Cap...
CCR1 p.P23L 3 46245737 46245737 CADOES1_BONE 37 Missense_Mutation SNP G A uc003cph.1 CCR3_uc003cpg.1... Hybrid_Cap... view
CDK11B 1 1654066 1654068 CADOES1_BONE 37 Intron Del GCG - uc001agv.1 CDK11B_uc001aha... Hybrid_Cap...
CDK14 7 90339221 90339221 CADOES1_BONE 37 Intron SNP A G uc003uky.2 CDK14_uc003ukt.... Hybrid_Cap... view
CDKL5 p.K776M X 18638037 18638037 CADOES1_BONE 37 Missense_Mutation SNP A T uc004cym.2 CDKL5_uc004cyn.... Hybrid_Cap... view
CDKN2C 1 51439954 51439954 CADOES1_BONE 37 3'UTR SNP G T rs34803100 uc001csf.2 CDKN2C_uc001csg... Hybrid_Cap... view
CHIC2 4 54876132 54876132 CADOES1_BONE 37 3'UTR Del C - rs4437313 uc003haj.1 PDGFRA_uc003haa... Hybrid_Cap...
CLTCL1 p.V1201_splice 22 19189003 19189004 CADOES1_BONE 37 Splice_Site_Ins Ins - C rs11386977 uc002zpb.2 CLTCL1_uc011agv... Hybrid_Cap...
CNTN6 p.R471T 3 1394055 1394055 CADOES1_BONE 37 Missense_Mutation SNP G C uc003boz.2 CNTN6_uc011asj.... Hybrid_Cap... view
CSF1R p.A792P 5 149435850 149435850 CADOES1_BONE 37 Missense_Mutation SNP C G uc003lrl.2 CSF1R_uc011dcd.... Hybrid_Cap... view
CSMD3 p.P2053H 8 113364742 113364742 CADOES1_BONE 37 Missense_Mutation SNP G T uc003ynu.2 CSMD3_uc003yns.... Hybrid_Cap... view
CTTN p.S368L 11 70277334 70277334 CADOES1_BONE 37 Missense_Mutation SNP C T rs61885860 uc001opu.2 CTTN_uc001opv.3... Hybrid_Cap... view
DDR2 1 162750211 162750211 CADOES1_BONE 37 3'UTR Del T - uc001gcf.2 DDR2_uc001gcg.2... Hybrid_Cap...
DGKB 7 14216345 14216346 CADOES1_BONE 37 Intron Ins - AGACT uc003ssz.2 DGKB_uc011jxt.1... Hybrid_Cap...
DICER1 p.Q1832R 14 95557572 95557572 CADOES1_BONE 37 Missense_Mutation SNP T C uc001ydw.2 DICER1_uc010avh... Hybrid_Cap... view
DST p.S2605fs 6 56426245 56426246 CADOES1_BONE 37 Frame_Shift_Del Del GA - uc003pdf.2 DST_uc003pcz.3_... Hybrid_Cap...
EPHA4 2 222291171 222291171 CADOES1_BONE 37 Intron SNP G A uc002vmq.2 EPHA4_uc002vmr.... Hybrid_Cap... view
EPHA6 3 97367230 97367231 CADOES1_BONE 37 Intron Ins - A rs115253553 uc010how.1 EPHA6_uc003drs.... Hybrid_Cap...
ETV1 7 14028708 14028708 CADOES1_BONE 37 5'UTR Del A - rs77190713 uc011jxq.1 ETV1_uc011jxn.1... Hybrid_Cap...
FGFR1OP 6 167453519 167453520 CADOES1_BONE 37 3'UTR Ins - T rs115519488 uc003qvj.2 CCR6_uc003qvl.2... Hybrid_Cap...
FLI1 11 128638217 128638217 CADOES1_BONE 37 Intron Del G - uc010sbu.1 FLI1_uc010sbt.1... Hybrid_Cap...
FN1 2 216244182 216244185 CADOES1_BONE 37 Intron Del GTAC - uc002vfa.2 FN1_uc002vfb.2_... Hybrid_Cap...
FOXP1 3 71008341 71008342 CADOES1_BONE 37 3'UTR Ins - T rs11433724;rs114233617 uc003dol.2 FOXP1_uc003dom.... Hybrid_Cap...
GLI2 p.E1577K 2 121748219 121748219 CADOES1_BONE 37 Missense_Mutation SNP G A uc010flp.2 GLI2_uc002tmq.1... Hybrid_Cap... view
GPR112 p.D2657del X 135474445 135474447 CADOES1_BONE 37 In_Frame_Del Del GAT - rs3030295 uc004ezu.1 GPR112_uc010nsb... Hybrid_Cap...
GRIA3 X 122318386 122318387 CADOES1_BONE 37 Splice_Site_Ins Ins - G rs66632982 uc004etq.3 GRIA3_uc004etr.... Hybrid_Cap...
GRIA3 p.R591H X 122551524 122551524 CADOES1_BONE 37 Missense_Mutation SNP G A uc004etq.3 GRIA3_uc004etr.... Hybrid_Cap... view
HDAC4 p.A1011T 2 239976487 239976487 CADOES1_BONE 37 Missense_Mutation SNP C T rs114831484 uc002vyk.3 HDAC4_uc010fyy.... Hybrid_Cap... view
HIF1A 14 62213929 62213930 CADOES1_BONE 37 3'UTR Ins - T rs67890419 uc001xfs.2 HIF1A_uc001xfq.... Hybrid_Cap...
HNF1A 12 121434630 121434631 CADOES1_BONE 37 Intron Ins - TCATTCAT rs75100977 uc010szn.1 HNF1A_uc001tze.... Hybrid_Cap...
IL21R p.R139C 16 27454345 27454345 CADOES1_BONE 37 Missense_Mutation SNP C T uc002doq.1 IL21R_uc002dor.... Hybrid_Cap... view
ILK 11 6630029 6630029 CADOES1_BONE 37 Intron Del C - uc001mee.2 ILK_uc001mef.2_... Hybrid_Cap...
ITGB1 10 33197131 33197134 CADOES1_BONE 37 Intron Del CTTT - rs116966876 uc001iwq.3 ITGB1_uc001iwp.... Hybrid_Cap...
ITPR2 p.R470_splice 12 26834804 26834805 CADOES1_BONE 37 Splice_Site_Ins Ins - ACTC rs66696203;rs59199365 uc001rhg.2 Hybrid_Cap...
LATS2 13 21620222 21620223 CADOES1_BONE 37 5'UTR Ins - A rs61240127;rs115723063 uc009zzs.2 LATS2_uc001unr.... Hybrid_Cap...
MAF 16 79628537 79628537 CADOES1_BONE 37 Intron Del T - uc002ffm.2 MAF_uc002ffn.2_... Hybrid_Cap...
MAML3 p.Q767_splice 4 140651585 140651587 CADOES1_BONE 37 Splice_Site_Del Del CTG - uc003ihz.1 MGST2_uc010ioi.... Hybrid_Cap...
MAP3K4 p.D67V 6 161455338 161455338 CADOES1_BONE 37 Missense_Mutation SNP A T uc003qtn.2 MAP3K4_uc010kkc... Hybrid_Cap... view
MAPKAPK3 3 50685575 50685575 CADOES1_BONE 37 3'UTR Del A - rs76026164 uc003day.1 MAPKAPK3_uc003d... Hybrid_Cap...
MYD88 p.D255D 3 38182305 38182305 CADOES1_BONE 37 Silent SNP C T uc003chx.2 MYD88_uc011ayi.... Hybrid_Cap... view
MYH11 16 15797811 15797811 CADOES1_BONE 37 3'UTR SNP G T rs75821286 uc002ddx.2 MYH11_uc002ddv.... Hybrid_Cap... view
MYLK p.E1066del 3 123419117 123419119 CADOES1_BONE 37 In_Frame_Del Del TTC - rs72491150 uc003ego.2 MYLK_uc011bjw.1... Hybrid_Cap...
MYO3B p.N480D 2 171243679 171243679 CADOES1_BONE 37 Missense_Mutation SNP A G uc002ufy.2 MYO3B_uc002ufv.... Hybrid_Cap... view
NCAM1 11 112832307 112832308 CADOES1_BONE 37 5'UTR Ins - A rs117108942 uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCAM1 11 112832340 112832340 CADOES1_BONE 37 5'UTR Del C - uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCOA2 p.N412T 8 71069365 71069365 CADOES1_BONE 37 Missense_Mutation SNP T G uc003xyn.1 Hybrid_Cap... view
NEK3 p.K313_splice 13 52718050 52718051 CADOES1_BONE 37 Splice_Site_Ins Ins - T rs72514762 uc001vgh.2 NEK3_uc001vgg.2... Hybrid_Cap...
NPM1 5 170837734 170837734 CADOES1_BONE 37 3'UTR Del T - uc011dex.1 NPM1_uc003mbi.2... Hybrid_Cap...
NPR1 1 153665919 153665920 CADOES1_BONE 37 3'UTR Ins - C rs66682713 uc001fcs.3 NPR1_uc010pdz.1... Hybrid_Cap...
NR1H2 p.176_177insQ 19 50881820 50881821 CADOES1_BONE 37 In_Frame_Ins Ins - AAC rs66783852;rs112359270 uc010enw.2 NR1H2_uc002prv.... Hybrid_Cap...
NR1H2 p.176_177insQ 19 50881822 50881823 CADOES1_BONE 37 In_Frame_Ins Ins - CAG rs61751954;rs1052533 uc010enw.2 NR1H2_uc002prv.... Hybrid_Cap...
PAX3 2 223066017 223066018 CADOES1_BONE 37 Intron Ins - C rs115619343 uc002vmt.1 PAX3_uc002vmy.1... Hybrid_Cap...
PAX3 2 223158653 223158653 CADOES1_BONE 37 Intron Del T - rs112753212 uc002vmt.1 PAX3_uc002vmy.1... Hybrid_Cap...
PCDH15 10 55581490 55581491 CADOES1_BONE 37 3'UTR Ins - A uc010qhy.1 PCDH15_uc010qhq... Hybrid_Cap...
PDZRN4 p.A243S 12 41949521 41949521 CADOES1_BONE 37 Missense_Mutation SNP G T uc010skn.1 PDZRN4_uc001rmq... Hybrid_Cap... view
PGR 11 100933598 100933599 CADOES1_BONE 37 Intron Ins - AATGA rs35148438 uc001pgh.2 PGR_uc001pgg.2_... Hybrid_Cap...
PHIP 6 79650265 79650266 CADOES1_BONE 37 3'UTR Ins - TTTT rs70977753;rs13191571 uc003pir.2 PHIP_uc003piq.2... Hybrid_Cap...
PI4K2B p.E335del 4 25265393 25265395 CADOES1_BONE 37 In_Frame_Del Del GAA - uc003grk.2 PI4K2B_uc011bxs... Hybrid_Cap...
PIK3C2G p.G652E 12 18534774 18534774 CADOES1_BONE 37 Missense_Mutation SNP G A uc010sib.1 PIK3C2G_uc001rd... Hybrid_Cap... view
PKHD1 p.S1342Y 6 51890583 51890583 CADOES1_BONE 37 Missense_Mutation SNP G T uc003pah.1 PKHD1_uc003pai.... Hybrid_Cap... view
PKN3 p.C416C 9 131476336 131476336 CADOES1_BONE 37 Silent SNP C T rs114852136 uc004bvw.2 PKN3_uc010myh.2... Hybrid_Cap... view
POU5F1 6 31132300 31132300 CADOES1_BONE 37 3'UTR SNP A G uc003nsv.2 POU5F1_uc003nsu... Hybrid_Cap... view
PRKCZ p.R49C 1 1986953 1986953 CADOES1_BONE 37 Missense_Mutation SNP C T uc001aiq.2 Hybrid_Cap... view
PRKDC p.L1244fs 8 48805816 48805817 CADOES1_BONE 37 Frame_Shift_Ins Ins - G rs67588121 uc003xqi.2 PRKDC_uc003xqj.... Hybrid_Cap...
RECQL4 p.R766fs 8 145738768 145738768 CADOES1_BONE 37 Frame_Shift_Del Del G - uc003zdj.2 Hybrid_Cap...
RELA p.P402P 11 65422332 65422332 CADOES1_BONE 37 Silent SNP T C uc010ron.1 RELA_uc001ofg.2... Hybrid_Cap... view
RPN1 3 128339072 128339072 CADOES1_BONE 37 3'UTR Del G - uc003ekr.1 RPN1_uc011bkq.1... Hybrid_Cap...
RPN1 3 128369656 128369656 CADOES1_BONE 37 5'UTR SNP C T uc003ekr.1 RPN1_uc011bkq.1... Hybrid_Cap... view
SCYL1 p.E690E 11 65305476 65305476 CADOES1_BONE 37 Silent SNP G A uc001oea.1 SCYL1_uc009yqk.... Hybrid_Cap... view
SGK494 p.S40C 17 26940664 26940664 CADOES1_BONE 37 Missense_Mutation SNP T A uc002hbr.1 SGK494_uc010waq... Hybrid_Cap... view
SORL1 p.T1946I 11 121490574 121490574 CADOES1_BONE 37 Missense_Mutation SNP C T uc001pxx.2 SORL1_uc010rzp.... Hybrid_Cap... view
SOX10 22 38379354 38379354 CADOES1_BONE 37 Intron SNP G C uc003aun.1 POLR2F_uc003aum... Hybrid_Cap... view
SPEN p.R2796G 1 16261121 16261121 CADOES1_BONE 37 Missense_Mutation SNP C G uc001axk.1 SPEN_uc010obp.1... Hybrid_Cap... view
STK31 7 23872024 23872025 CADOES1_BONE 37 3'UTR Ins - TTTG rs66787534 uc003sws.3 STK31_uc003swt.... Hybrid_Cap...
TGFB2 1 218519928 218519929 CADOES1_BONE 37 5'UTR Ins - AAAC uc001hln.2 TGFB2_uc001hll.... Hybrid_Cap...
TLK1 2 171850178 171850179 CADOES1_BONE 37 3'UTR Ins - AA rs71008739 uc002ugo.2 TLK1_uc002ugn.2... Hybrid_Cap...
TMEM123 11 102269398 102269398 CADOES1_BONE 37 3'UTR Del G - uc001pha.2 TMEM123_uc009yx... Hybrid_Cap...
TNN p.T985M 1 175096130 175096130 CADOES1_BONE 37 Missense_Mutation SNP C T uc001gkl.1 Hybrid_Cap... view
TP53RK p.R243C 20 45315427 45315427 CADOES1_BONE 37 Missense_Mutation SNP G A uc002xsk.2 SLC13A3_uc002xs... Hybrid_Cap... view
TP63 3 189507518 189507519 CADOES1_BONE 37 Intron Ins - AGAG rs62702062;rs79714037 uc003fry.2 TP63_uc003frx.2... Hybrid_Cap...
TPO p.C808fs 2 1507755 1507755 CADOES1_BONE 37 Frame_Shift_Del Del T - uc002qww.2 TPO_uc010ewj.2_... Hybrid_Cap...
TRIM36 5 114462032 114462032 CADOES1_BONE 37 3'UTR SNP C T uc003kqs.2 TRIM36_uc011cwc... Hybrid_Cap... view
TRPS1 8 116635872 116635873 CADOES1_BONE 37 5'UTR Ins - A rs76893349 uc003yny.2 TRPS1_uc011lhy.... Hybrid_Cap...
TTK p.G855R 6 80751908 80751908 CADOES1_BONE 37 Missense_Mutation SNP G A uc003pjc.2 TTK_uc003pjb.3_... Hybrid_Cap... view
TTN 2 179391639 179391640 CADOES1_BONE 37 3'UTR Ins - T rs36037175 uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap...
TTN p.K12639Q 2 179485718 179485718 CADOES1_BONE 37 Missense_Mutation SNP T G uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
VEGFC p.S419_splice 4 177605082 177605084 CADOES1_BONE 37 Splice_Site_Del Del TCA - uc003ius.1 Hybrid_Cap...
WNK2 p.P1444A 9 96051255 96051255 CADOES1_BONE 37 Missense_Mutation SNP C G uc004ati.1 WNK2_uc011lud.1... Hybrid_Cap... view
ZAK p.H651R 2 174131027 174131027 CADOES1_BONE 37 Missense_Mutation SNP A G uc002uhz.2 Hybrid_Cap... view
ZAK 2 174131512 174131512 CADOES1_BONE 37 3'UTR Del A - uc002uhz.2 Hybrid_Cap...
ZNF497 p.D78V 19 58868769 58868769 CADOES1_BONE 37 Missense_Mutation SNP T A uc002qsh.1 A1BG_uc002qsf.1... Hybrid_Cap... view
ZNF608 5 123973413 123973413 CADOES1_BONE 37 3'UTR SNP A G uc003ktq.1 ZNF608_uc003ktr... Hybrid_Cap... view