Annotation Summary for Cell Line: KYSE-520  

Cell line primary name: KYSE-520
Cell line aliases:
Gender: F
Site Primary: oesophagus
Histology: carcinoma
Hist Subtype1: squamous_cell_carcinoma
Notes:
Source: DSMZ
Expression arrays: CASED_p_NCLE_RNA4_HG-U133_Plus_2_F06_383666
SNP arrays: FIEFS_p_NCLE_DNA_Affy5_GenomeWideSNP_6_E09_410992
Oncomap: yes
Hybrid Capture Sequencing: yes


Mutations in KYSE-520

GeneProtein
Change
ChrStartEnd SampleNCBI
Build
Variant
Classification
Variant TypeReference
Allele
Tumor
Allele 1
dbSNP IDAnnotation
Transcript
Other
Transcripts
Method View
Reads
Mutation
Assessor
ADAM12 p.R74W 10 127967524 127967524 KYSE520_OESOPHA... 37 Missense_Mutation SNP G A uc001ljk.2 ADAM12_uc010qul... Hybrid_Cap... view
ADAM28 8 24193269 24193269 KYSE520_OESOPHA... 37 Intron SNP T G uc003xdy.2 ADAM28_uc003xdx... Hybrid_Cap... view
ADAM28 8 24211994 24211997 KYSE520_OESOPHA... 37 3'UTR Del CTAT - rs10610134 uc003xdy.2 ADAM28_uc011laa... Hybrid_Cap...
AGAP2 p.D483Y 12 58127911 58127911 KYSE520_OESOPHA... 37 Missense_Mutation SNP C A uc001spq.2 AGAP2_uc001spp.... Hybrid_Cap... view
AKAP12 p.1531_1532insE 6 151674116 151674117 KYSE520_OESOPHA... 37 In_Frame_Ins Ins - GAG rs34737819 uc011eep.1 AKAP12_uc003qoe... Hybrid_Cap...
AKAP9 p.1335_1336insQ 7 91652178 91652179 KYSE520_OESOPHA... 37 In_Frame_Ins Ins - AAC rs34756483 uc003ulg.2 AKAP9_uc003ule.... Hybrid_Cap...
AKT1 14 105236655 105236655 KYSE520_OESOPHA... 37 3'UTR SNP G A uc001ypk.2 INF2_uc010tyi.1... Hybrid_Cap... view
ALK p.V163L 2 30143039 30143039 KYSE520_OESOPHA... 37 Missense_Mutation SNP C A rs55697431 uc002rmy.2 Hybrid_Cap... view
ALPK1 4 113347609 113347610 KYSE520_OESOPHA... 37 Intron Ins - T rs68137453 uc003iap.3 ALPK1_uc003ian.... Hybrid_Cap...
ATP13A5 p.A398S 3 193051619 193051619 KYSE520_OESOPHA... 37 Missense_Mutation SNP C A uc011bsq.1 Hybrid_Cap... view
AURKC 19 57742531 57742532 KYSE520_OESOPHA... 37 5'UTR Ins - C uc002qoe.2 AURKC_uc002qoc.... Hybrid_Cap...
AXIN2 p.A292S 17 63545720 63545720 KYSE520_OESOPHA... 37 Missense_Mutation SNP C A uc002jfi.2 AXIN2_uc010den.... Hybrid_Cap... view
BIRC6 p.S4791Y 2 32836627 32836627 KYSE520_OESOPHA... 37 Missense_Mutation SNP C A uc010ezu.2 Hybrid_Cap... view
CACNB2 10 18828721 18828722 KYSE520_OESOPHA... 37 3'UTR Ins - AA rs3841459 uc001ipr.2 CACNB2_uc009xjz... Hybrid_Cap...
CD44 p.P379A 11 35223316 35223316 KYSE520_OESOPHA... 37 Missense_Mutation SNP C G uc001mvu.2 CD44_uc001mvv.2... Hybrid_Cap... view
CDC42BPA p.M1649T 1 227182606 227182606 KYSE520_OESOPHA... 37 Missense_Mutation SNP A G uc001hqr.2 CDC42BPA_uc001h... Hybrid_Cap... view
CDC42BPA p.A808V 1 227268651 227268651 KYSE520_OESOPHA... 37 Missense_Mutation SNP G A uc001hqr.2 CDC42BPA_uc001h... Hybrid_Cap... view
CDK11B p.G51Q 1 1653110 1653111 KYSE520_OESOPHA... 37 Missense_Mutation DNP CC TG uc001agv.1 CDK11B_uc001aha... Hybrid_Cap...
CDK11B 1 1654066 1654068 KYSE520_OESOPHA... 37 Intron Del GCG - uc001agv.1 CDK11B_uc001aha... Hybrid_Cap...
CIITA 16 11017162 11017162 KYSE520_OESOPHA... 37 3'UTR SNP C T uc002daj.3 CIITA_uc002dai.... Hybrid_Cap... view
CLTCL1 p.V1201_splice 22 19189003 19189004 KYSE520_OESOPHA... 37 Splice_Site_Ins Ins - C rs11386977 uc002zpb.2 CLTCL1_uc011agv... Hybrid_Cap...
CSF3R p.P823P 1 36932081 36932081 KYSE520_OESOPHA... 37 Silent SNP G A uc001cax.1 MRPS15_uc001cas... Hybrid_Cap... view
CTNNA2 p.Q661E 2 80808918 80808918 KYSE520_OESOPHA... 37 Missense_Mutation SNP C G uc010ysh.1 CTNNA2_uc010yse... Hybrid_Cap... view
CXCL12 10 44873992 44873993 KYSE520_OESOPHA... 37 Intron Ins - CT rs117617571 uc001jbh.2 CXCL12_uc001jbf... Hybrid_Cap...
DGKB 7 14216345 14216346 KYSE520_OESOPHA... 37 Intron Ins - AGACT uc003ssz.2 DGKB_uc011jxt.1... Hybrid_Cap...
DICER1 p.N1112D 14 95570399 95570399 KYSE520_OESOPHA... 37 Missense_Mutation SNP T C uc001ydw.2 DICER1_uc010avh... Hybrid_Cap... view
DST p.R4861H 6 56352010 56352010 KYSE520_OESOPHA... 37 Missense_Mutation SNP C T uc003pdf.2 DST_uc003pcz.3_... Hybrid_Cap... view
EDN1 6 12290729 12290729 KYSE520_OESOPHA... 37 5'UTR Del A - uc003nae.3 EDN1_uc010jpb.2... Hybrid_Cap...
EIF3H p.S17C 8 117768029 117768029 KYSE520_OESOPHA... 37 Missense_Mutation SNP G C uc003yob.2 EIF3H_uc003yoa.... Hybrid_Cap... view
ERG p.A42T 21 39817460 39817460 KYSE520_OESOPHA... 37 Missense_Mutation SNP C T uc010gnw.2 ERG_uc002yxa.2_... Hybrid_Cap... view
FANCA 16 89804959 89804959 KYSE520_OESOPHA... 37 3'UTR SNP T C uc002fou.1 ZNF276_uc010ciq... Hybrid_Cap... view
FBN2 p.F1981I 5 127637179 127637179 KYSE520_OESOPHA... 37 Missense_Mutation SNP A T uc003kuu.2 Hybrid_Cap... view
FGFR1OP 6 167453519 167453520 KYSE520_OESOPHA... 37 3'UTR Ins - T rs115519488 uc003qvj.2 CCR6_uc003qvl.2... Hybrid_Cap...
FH p.T285A 1 241669354 241669354 KYSE520_OESOPHA... 37 Missense_Mutation SNP T C uc001hyx.2 Hybrid_Cap... view
FN1 2 216244182 216244185 KYSE520_OESOPHA... 37 Intron Del GTAC - uc002vfa.2 FN1_uc002vfb.2_... Hybrid_Cap...
GLI2 p.S255S 2 121726411 121726411 KYSE520_OESOPHA... 37 Silent SNP G A uc010flp.2 GLI2_uc002tmq.1... Hybrid_Cap... view
GRIA3 X 122318386 122318387 KYSE520_OESOPHA... 37 Splice_Site_Ins Ins - G rs66632982 uc004etq.3 GRIA3_uc004etr.... Hybrid_Cap...
GRIK1 21 30909456 30909456 KYSE520_OESOPHA... 37 3'UTR SNP G A uc011acs.1 GRIK1_uc002ynn.... Hybrid_Cap... view
GUCY2C 12 14827464 14827466 KYSE520_OESOPHA... 37 Intron Del ATC - rs72525754;rs3083879 uc001rcd.2 GUCY2C_uc009zhz... Hybrid_Cap...
HIF1A 14 62213929 62213930 KYSE520_OESOPHA... 37 3'UTR Ins - T rs67890419 uc001xfs.2 HIF1A_uc001xfq.... Hybrid_Cap...
HLF p.A116A 17 53345344 53345344 KYSE520_OESOPHA... 37 Silent SNP T C uc002iug.1 HLF_uc010dce.1_... Hybrid_Cap... view
ILK 11 6630029 6630029 KYSE520_OESOPHA... 37 Intron Del C - uc001mee.2 ILK_uc001mef.2_... Hybrid_Cap...
IRAK3 p.W264* 12 66622054 66622054 KYSE520_OESOPHA... 37 Nonsense_Mutation SNP G A uc001sth.2 IRAK3_uc010ssy.... Hybrid_Cap... view
ITGB6 p.E741* 2 160964237 160964237 KYSE520_OESOPHA... 37 Nonsense_Mutation SNP C A uc002ubh.2 ITGB6_uc010fou.... Hybrid_Cap... view
ITK p.G271E 5 156665162 156665162 KYSE520_OESOPHA... 37 Missense_Mutation SNP G A uc003lwo.1 Hybrid_Cap... view
ITPR2 p.R470_splice 12 26834804 26834805 KYSE520_OESOPHA... 37 Splice_Site_Ins Ins - ACTC rs66696203;rs59199365 uc001rhg.2 Hybrid_Cap...
KDM5A p.R1282C 12 416706 416706 KYSE520_OESOPHA... 37 Missense_Mutation SNP G A uc001qif.1 KDM5A_uc001qie.... Hybrid_Cap... view
KLF6 10 3822607 3822607 KYSE520_OESOPHA... 37 Intron SNP G A uc001iha.2 KLF6_uc010qaj.1... Hybrid_Cap... view
KLK7 19 51480672 51480675 KYSE520_OESOPHA... 37 3'UTR Del GGTT - uc002puo.2 KLK7_uc002pup.2... Hybrid_Cap...
LAMA1 p.V927M 18 7017306 7017306 KYSE520_OESOPHA... 37 Missense_Mutation SNP C T uc002knm.2 LAMA1_uc010wzj.... Hybrid_Cap... view
LATS2 13 21620222 21620223 KYSE520_OESOPHA... 37 5'UTR Ins - A rs61240127;rs115723063 uc009zzs.2 LATS2_uc001unr.... Hybrid_Cap...
MAMDC4 p.P1043H 9 139753704 139753704 KYSE520_OESOPHA... 37 Missense_Mutation SNP C A uc004cjs.2 MAMDC4_uc011mej... Hybrid_Cap... view
MAML2 p.604_607QQQQ>Q 11 95825375 95825383 KYSE520_OESOPHA... 37 In_Frame_Del Del TGCTG... - rs113349418 uc001pfw.1 Hybrid_Cap...
MAML3 p.Q767_splice 4 140651585 140651587 KYSE520_OESOPHA... 37 Splice_Site_Del Del CTG - uc003ihz.1 MGST2_uc010ioi.... Hybrid_Cap...
MAP3K1 p.T949del 5 56177849 56177851 KYSE520_OESOPHA... 37 In_Frame_Del Del CAA - uc003jqw.3 Hybrid_Cap...
MAP3K14 p.R218_splice 17 43364293 43364294 KYSE520_OESOPHA... 37 Splice_Site_Ins Ins - G rs66766023 uc002iiw.1 MAP3K14_uc010da... Hybrid_Cap...
MAPK14 6 36076345 36076354 KYSE520_OESOPHA... 37 3'UTR Del GTGTG... - rs80147786 uc003olp.2 MAPK14_uc003olq... Hybrid_Cap...
MFSD4 1 205548817 205548817 KYSE520_OESOPHA... 37 Intron SNP G A uc001hcv.3 MFSD4_uc010prk.... Hybrid_Cap... view
MLLT3 9 20346378 20346378 KYSE520_OESOPHA... 37 3'UTR Del A - uc003zoe.2 MLLT3_uc011lne.... Hybrid_Cap...
MYH9 p.R764C 22 36700141 36700141 KYSE520_OESOPHA... 37 Missense_Mutation SNP G A uc003apg.2 MYH9_uc003aph.1... Hybrid_Cap... view
MYLK 3 123332875 123332876 KYSE520_OESOPHA... 37 3'UTR Ins - TT rs35930843;rs115544676 uc003ego.2 MYLK_uc003egl.2... Hybrid_Cap...
MYLK2 p.G484R 20 30419531 30419531 KYSE520_OESOPHA... 37 Missense_Mutation SNP G A uc002wwq.2 MYLK2_uc002wws.... Hybrid_Cap... view
MYO3B p.H316L 2 171225863 171225863 KYSE520_OESOPHA... 37 Missense_Mutation SNP A T rs55633190 uc002ufy.2 MYO3B_uc002ufv.... Hybrid_Cap... view
MYST4 p.E1104del 10 76781906 76781908 KYSE520_OESOPHA... 37 In_Frame_Del Del GAA - rs79644703 uc001jwn.1 MYST4_uc001jwm.... Hybrid_Cap...
NCAM1 11 112832307 112832308 KYSE520_OESOPHA... 37 5'UTR Ins - A rs117108942 uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCAM1 11 112832340 112832340 KYSE520_OESOPHA... 37 5'UTR Del C - uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCAPD3 p.Q817_splice 11 134054531 134054531 KYSE520_OESOPHA... 37 Splice_Site_SNP SNP C T uc001qhd.1 NCAPD3_uc010scm... Hybrid_Cap... view
NCOA1 p.T1305M 2 24980874 24980874 KYSE520_OESOPHA... 37 Missense_Mutation SNP C T uc002rfk.2 NCOA1_uc010eye.... Hybrid_Cap... view
NEK3 p.K313_splice 13 52718050 52718051 KYSE520_OESOPHA... 37 Splice_Site_Ins Ins - T rs72514762 uc001vgh.2 NEK3_uc001vgg.2... Hybrid_Cap...
NFIA 1 61869770 61869770 KYSE520_OESOPHA... 37 Intron SNP C T uc010oos.1 NFIA_uc001czy.2... Hybrid_Cap... view
NOTCH2 p.L389P 1 120510798 120510798 KYSE520_OESOPHA... 37 Missense_Mutation SNP A G uc001eik.2 NOTCH2_uc001eil... Hybrid_Cap... view
NOTCH2 p.Y282fs 1 120529611 120529612 KYSE520_OESOPHA... 37 Frame_Shift_Ins Ins - T uc001eik.2 NOTCH2_uc001eil... Hybrid_Cap...
NPR1 1 153665919 153665920 KYSE520_OESOPHA... 37 3'UTR Ins - C rs66682713 uc001fcs.3 NPR1_uc010pdz.1... Hybrid_Cap...
NR1H2 p.176_177insQ 19 50881822 50881823 KYSE520_OESOPHA... 37 In_Frame_Ins Ins - CAG rs61751954;rs1052533 uc010enw.2 NR1H2_uc002prv.... Hybrid_Cap...
NTRK3 p.V21F 15 88799324 88799324 KYSE520_OESOPHA... 37 Missense_Mutation SNP C A uc002bme.1 NTRK3_uc002bmh.... Hybrid_Cap... view
NUP153 p.V1091L 6 17629252 17629252 KYSE520_OESOPHA... 37 Missense_Mutation SNP C A uc011dje.1 NUP153_uc003ncd... Hybrid_Cap... view
NUP210 p.G1065V 3 13383282 13383282 KYSE520_OESOPHA... 37 Missense_Mutation SNP C A uc003bxv.1 Hybrid_Cap... view
NYNRIN p.S297R 14 24877889 24877889 KYSE520_OESOPHA... 37 Missense_Mutation SNP A C uc001wpf.3 Hybrid_Cap... view
PAPPA p.L285F 9 118949870 118949870 KYSE520_OESOPHA... 37 Missense_Mutation SNP C T uc004bjn.2 PAPPA_uc011lxp.... Hybrid_Cap... view
PAX3 2 223066017 223066018 KYSE520_OESOPHA... 37 Intron Ins - C rs115619343 uc002vmt.1 PAX3_uc002vmy.1... Hybrid_Cap...
PAX3 2 223158653 223158653 KYSE520_OESOPHA... 37 Intron Del T - rs112753212 uc002vmt.1 PAX3_uc002vmy.1... Hybrid_Cap...
PAX5 9 37034073 37034073 KYSE520_OESOPHA... 37 5'UTR SNP A C uc003zzo.1 PAX5_uc011lpw.1... Hybrid_Cap... view
PDGFRA 4 55131002 55131002 KYSE520_OESOPHA... 37 Intron Del A - uc003han.3 PDGFRA_uc003haa... Hybrid_Cap...
PGR 11 100933598 100933599 KYSE520_OESOPHA... 37 Intron Ins - AATGA rs35148438 uc001pgh.2 PGR_uc001pgg.2_... Hybrid_Cap...
PIGU 20 33264932 33264932 KYSE520_OESOPHA... 37 5'UTR SNP G A uc002xas.2 PIGU_uc010zul.1... Hybrid_Cap... view
PIK3R1 5 67586584 67586584 KYSE520_OESOPHA... 37 Intron SNP G C uc003jva.2 PIK3R1_uc003jvb... Hybrid_Cap... view
PPARGC1A p.P349R 4 23816060 23816060 KYSE520_OESOPHA... 37 Missense_Mutation SNP G C uc003gqs.2 PPARGC1A_uc003g... Hybrid_Cap... view
PRKDC p.L1244fs 8 48805816 48805817 KYSE520_OESOPHA... 37 Frame_Shift_Ins Ins - G rs67588121 uc003xqi.2 PRKDC_uc003xqj.... Hybrid_Cap...
PTPRT p.Y447H 20 41101017 41101017 KYSE520_OESOPHA... 37 Missense_Mutation SNP A G uc010ggj.2 PTPRT_uc002xkg.... Hybrid_Cap... view
RAPGEF2 4 160189200 160189201 KYSE520_OESOPHA... 37 5'UTR Ins - T rs72011511 uc003iqg.3 Hybrid_Cap...
RECQL4 p.R766fs 8 145738768 145738768 KYSE520_OESOPHA... 37 Frame_Shift_Del Del G - uc003zdj.2 Hybrid_Cap...
ROBO2 3 77666961 77666961 KYSE520_OESOPHA... 37 Intron SNP C T uc003dpz.2 ROBO2_uc003dpy.... Hybrid_Cap... view
RPS6KA5 14 91360733 91360734 KYSE520_OESOPHA... 37 Intron Ins - T rs77438853 uc001xys.2 RPS6KA5_uc010tw... Hybrid_Cap...
SERPINA12 p.L274F 14 94962795 94962796 KYSE520_OESOPHA... 37 Missense_Mutation DNP GG AA uc001ydj.2 Hybrid_Cap...
STAT5A 17 40462797 40462800 KYSE520_OESOPHA... 37 3'UTR Del TGTG - uc002hzj.1 STAT5A_uc010cya... Hybrid_Cap...
STK31 7 23872024 23872025 KYSE520_OESOPHA... 37 3'UTR Ins - TTTG rs66787534 uc003sws.3 STK31_uc003swt.... Hybrid_Cap...
TAF1L p.R1454C 9 32631218 32631218 KYSE520_OESOPHA... 37 Missense_Mutation SNP G A uc003zrg.1 Hybrid_Cap... view
TG p.S2320F 8 134034318 134034318 KYSE520_OESOPHA... 37 Missense_Mutation SNP C T uc003ytw.2 TG_uc010mdw.2_M... Hybrid_Cap... view
TGFB2 1 218519928 218519929 KYSE520_OESOPHA... 37 5'UTR Ins - AAAC uc001hln.2 TGFB2_uc001hll.... Hybrid_Cap...
TLK1 2 171850178 171850179 KYSE520_OESOPHA... 37 3'UTR Ins - AA rs71008739 uc002ugo.2 TLK1_uc002ugn.2... Hybrid_Cap...
TMEM123 11 102269398 102269398 KYSE520_OESOPHA... 37 3'UTR Del G - uc001pha.2 TMEM123_uc009yx... Hybrid_Cap...
TNN p.T985M 1 175096130 175096130 KYSE520_OESOPHA... 37 Missense_Mutation SNP C T uc001gkl.1 Hybrid_Cap... view
TP53 p.Y126_splice 17 7578556 7578556 KYSE520_OESOPHA... 37 Splice_Site_SNP SNP T A uc002gim.2 TP53_uc002gig.1... Hybrid_Cap... view
TP63 3 189507518 189507519 KYSE520_OESOPHA... 37 Intron Ins - AGAG rs62702062;rs79714037 uc003fry.2 TP63_uc003frx.2... Hybrid_Cap...
TRIB2 2 12880931 12880931 KYSE520_OESOPHA... 37 3'UTR SNP C T uc002rbv.3 TRIB2_uc010yjp.... Hybrid_Cap... view
TRIO p.S1891F 5 14465658 14465658 KYSE520_OESOPHA... 37 Missense_Mutation SNP C T uc003jff.2 TRIO_uc003jfg.2... Hybrid_Cap... view
TRPS1 8 116635872 116635873 KYSE520_OESOPHA... 37 5'UTR Ins - A rs76893349 uc003yny.2 TRPS1_uc011lhy.... Hybrid_Cap...
TRRAP p.P3747S 7 98609102 98609102 KYSE520_OESOPHA... 37 Missense_Mutation SNP C T uc003upp.2 TRRAP_uc011kis.... Hybrid_Cap... view
TSC2 p.P1042R 16 2129191 2129191 KYSE520_OESOPHA... 37 Missense_Mutation SNP C G uc002con.2 TSC2_uc010bsd.2... Hybrid_Cap... view
TTN 2 179391639 179391640 KYSE520_OESOPHA... 37 3'UTR Ins - T rs36037175 uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap...
TTN p.S25500N 2 179426656 179426656 KYSE520_OESOPHA... 37 Missense_Mutation SNP C T rs72648219 uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
TTN p.R25126C 2 179427779 179427779 KYSE520_OESOPHA... 37 Missense_Mutation SNP G A uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
TTN p.H22497R 2 179435665 179435665 KYSE520_OESOPHA... 37 Missense_Mutation SNP T C uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
TTN p.E18895K 2 179451241 179451241 KYSE520_OESOPHA... 37 Missense_Mutation SNP C T uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
TTN p.E14742G 2 179474108 179474108 KYSE520_OESOPHA... 37 Missense_Mutation SNP T C uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
VEGFC p.S419_splice 4 177605082 177605084 KYSE520_OESOPHA... 37 Splice_Site_Del Del TCA - uc003ius.1 Hybrid_Cap...
WHSC1 p.F853fs 4 1957458 1957458 KYSE520_OESOPHA... 37 Frame_Shift_Del Del T - uc003gdz.3 WHSC1_uc003geb.... Hybrid_Cap...
YSK4 p.C459Y 2 135745066 135745066 KYSE520_OESOPHA... 37 Missense_Mutation SNP C T uc002tue.1 YSK4_uc002tuf.1... Hybrid_Cap... view