Annotation Summary for Cell Line: SK-MES-1  

Cell line primary name: SK-MES-1
Cell line aliases:
Gender: M
Site Primary: lung
Histology: carcinoma
Hist Subtype1: squamous_cell_carcinoma
Notes:
Source: ATCC
Expression arrays: BRAKE_p_NCLE_RNA2_HG-U133_Plus_2_D01_241114
SNP arrays: HONEY_p_NCLE_DNAAffy3_S_GenomeWideSNP_6_H06_293458
Oncomap: yes
Hybrid Capture Sequencing: yes


Mutations in SK-MES-1

GeneProtein
Change
ChrStartEnd SampleNCBI
Build
Variant
Classification
Variant TypeReference
Allele
Tumor
Allele 1
dbSNP IDAnnotation
Transcript
Other
Transcripts
Method View
Reads
Mutation
Assessor
ACACB p.N289K 12 109605781 109605781 SKMES1_LUNG 37 Missense_Mutation SNP C G uc001tob.2 ACACB_uc001toc.... Hybrid_Cap... view
ADAM28 8 24211994 24211997 SKMES1_LUNG 37 3'UTR Del CTAT - rs10610134 uc003xdy.2 ADAM28_uc011laa... Hybrid_Cap...
AFF1 p.S815T 4 88036429 88036429 SKMES1_LUNG 37 Missense_Mutation SNP G C uc011ccz.1 AFF1_uc003hqj.3... Hybrid_Cap... view
AKAP12 p.1531_1532insE 6 151674116 151674117 SKMES1_LUNG 37 In_Frame_Ins Ins - GAG rs34737819 uc011eep.1 AKAP12_uc003qoe... Hybrid_Cap...
CCNA2 4 122738657 122738658 SKMES1_LUNG 37 3'UTR Ins - ATAG uc003iec.3 Hybrid_Cap...
CHD1 p.P1684del 5 98192165 98192167 SKMES1_LUNG 37 In_Frame_Del Del AGG - rs79267787;rs61749618 uc003knf.2 CHD1_uc010jbn.2... Hybrid_Cap...
CLTCL1 p.V1201_splice 22 19189003 19189004 SKMES1_LUNG 37 Splice_Site_Ins Ins - C rs11386977 uc002zpb.2 CLTCL1_uc011agv... Hybrid_Cap...
CNTN6 3 1339681 1339686 SKMES1_LUNG 37 Intron Del GTTTT... - uc003boz.2 CNTN6_uc010hbo.... Hybrid_Cap...
CPNE5 p.R544L 6 36710196 36710196 SKMES1_LUNG 37 Missense_Mutation SNP C A uc003omr.1 CPNE5_uc003omp.... Hybrid_Cap... view
CSMD3 p.G648V 8 113812420 113812420 SKMES1_LUNG 37 Missense_Mutation SNP C A uc003ynu.2 CSMD3_uc003ynt.... Hybrid_Cap... view
CSMD3 p.S472P 8 113966919 113966919 SKMES1_LUNG 37 Missense_Mutation SNP A G uc003ynu.2 CSMD3_uc003ynt.... Hybrid_Cap... view
DICER1 p.D1375N 14 95566200 95566200 SKMES1_LUNG 37 Missense_Mutation SNP C T uc001ydw.2 DICER1_uc010avh... Hybrid_Cap... view
DLC1 p.E329* 8 13356596 13356596 SKMES1_LUNG 37 Nonsense_Mutation SNP C A uc003wwm.2 DLC1_uc003wwn.2... Hybrid_Cap... view
EDNRB 13 78470758 78470758 SKMES1_LUNG 37 3'UTR SNP C A uc001vkp.1 EDNRB_uc001vkq.... Hybrid_Cap... view
EIF2AK4 15 40284870 40284870 SKMES1_LUNG 37 Intron SNP A G uc001zkm.1 EIF2AK4_uc010bb... Hybrid_Cap... view
EP300 22 41574970 41574972 SKMES1_LUNG 37 3'UTR Del GTA - rs76489032 uc003azl.3 Hybrid_Cap...
EPHA5 4 66189751 66189751 SKMES1_LUNG 37 3'UTR SNP C T uc011cah.1 EPHA5_uc003hcx.... Hybrid_Cap... view
EPHA5 p.V892L 4 66201831 66201831 SKMES1_LUNG 37 Missense_Mutation SNP C A uc011cah.1 EPHA5_uc003hcx.... Hybrid_Cap... view
ERBB4 p.G936R 2 212288940 212288940 SKMES1_LUNG 37 Missense_Mutation SNP C T uc002veg.1 ERBB4_uc002veh.... Hybrid_Cap... view
FANCF p.L86F 11 22647101 22647101 SKMES1_LUNG 37 Missense_Mutation SNP G A uc001mql.1 Hybrid_Cap... view
FBN2 5 127664381 127664381 SKMES1_LUNG 37 Intron SNP G T uc003kuu.2 FBN2_uc003kuv.2... Hybrid_Cap... view
FGFR1OP 6 167453519 167453520 SKMES1_LUNG 37 3'UTR Ins - T rs115519488 uc003qvj.2 CCR6_uc003qvl.2... Hybrid_Cap...
FN1 2 216244182 216244185 SKMES1_LUNG 37 Intron Del GTAC - uc002vfa.2 FN1_uc002vfb.2_... Hybrid_Cap...
FRK p.R231C 6 116288822 116288822 SKMES1_LUNG 37 Missense_Mutation SNP G A uc003pwi.1 Hybrid_Cap... view
GLI3 p.T1540A 7 42004053 42004053 SKMES1_LUNG 37 Missense_Mutation SNP T C uc011kbh.1 GLI3_uc011kbg.1... Hybrid_Cap... view
GTSE1 p.V680L 22 46725366 46725366 SKMES1_LUNG 37 Missense_Mutation SNP G T uc011aqy.1 GTSE1_uc011aqz.... Hybrid_Cap... view
GUCY1A2 11 106558132 106558132 SKMES1_LUNG 37 3'UTR SNP G T uc009yxn.1 GUCY1A2_uc001pj... Hybrid_Cap... view
GUCY2C 12 14827464 14827466 SKMES1_LUNG 37 Intron Del ATC - rs72525754;rs3083879 uc001rcd.2 GUCY2C_uc009zhz... Hybrid_Cap...
HIF1A 14 62213929 62213930 SKMES1_LUNG 37 3'UTR Ins - T rs67890419 uc001xfs.2 HIF1A_uc001xfq.... Hybrid_Cap...
ILK 11 6630029 6630029 SKMES1_LUNG 37 Intron Del C - uc001mee.2 ILK_uc001mef.2_... Hybrid_Cap...
ITGA5 p.Q932K 12 54793476 54793476 SKMES1_LUNG 37 Missense_Mutation SNP G T uc001sga.2 Hybrid_Cap... view
ITGB1 10 33197131 33197134 SKMES1_LUNG 37 Intron Del CTTT - rs116966876 uc001iwq.3 ITGB1_uc001iwp.... Hybrid_Cap...
ITIH5L p.G787C X 54784148 54784148 SKMES1_LUNG 37 Missense_Mutation SNP C A uc004dtj.2 Hybrid_Cap... view
ITPR2 p.R470_splice 12 26834804 26834805 SKMES1_LUNG 37 Splice_Site_Ins Ins - ACTC rs66696203;rs59199365 uc001rhg.2 Hybrid_Cap...
KIAA1409 p.V97M 14 93963554 93963554 SKMES1_LUNG 37 Missense_Mutation SNP G A uc001ybv.1 KIAA1409_uc001y... Hybrid_Cap... view
LATS1 p.E574* 6 150004505 150004505 SKMES1_LUNG 37 Nonsense_Mutation SNP C A uc003qmu.1 LATS1_uc010kif.... Hybrid_Cap... view
LRP1B p.D1916H 2 141526794 141526794 SKMES1_LUNG 37 Missense_Mutation SNP C G uc002tvj.1 Hybrid_Cap... view
LRP2 p.W1599R 2 170092475 170092475 SKMES1_LUNG 37 Missense_Mutation SNP A G uc002ues.2 Hybrid_Cap... view
MAML3 p.Q767_splice 4 140651585 140651587 SKMES1_LUNG 37 Splice_Site_Del Del CTG - uc003ihz.1 MGST2_uc010ioi.... Hybrid_Cap...
MAP3K1 p.T949del 5 56177849 56177851 SKMES1_LUNG 37 In_Frame_Del Del CAA - uc003jqw.3 Hybrid_Cap...
MAP3K9 p.V243L 14 71267477 71267477 SKMES1_LUNG 37 Missense_Mutation SNP C A uc001xml.2 MAP3K9_uc001xmm... Hybrid_Cap... view
NCAM1 11 112832307 112832308 SKMES1_LUNG 37 5'UTR Ins - A rs117108942 uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCAM1 11 112832340 112832340 SKMES1_LUNG 37 5'UTR Del C - uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NEK11 p.Q351L 3 130881341 130881341 SKMES1_LUNG 37 Missense_Mutation SNP A T uc003eny.2 NEK11_uc003enx.... Hybrid_Cap... view
NEK3 p.K313_splice 13 52718050 52718051 SKMES1_LUNG 37 Splice_Site_Ins Ins - T rs72514762 uc001vgh.2 NEK3_uc001vgg.2... Hybrid_Cap...
NLRP10 p.E22Q 11 7984979 7984979 SKMES1_LUNG 37 Missense_Mutation SNP C G uc001mfv.1 Hybrid_Cap... view
NR1H2 p.176_177insQ 19 50881820 50881821 SKMES1_LUNG 37 In_Frame_Ins Ins - AAC rs66783852;rs112359270 uc010enw.2 NR1H2_uc002prv.... Hybrid_Cap...
OMG p.A247V 17 29622610 29622610 SKMES1_LUNG 37 Missense_Mutation SNP G A uc002hgj.2 NF1_uc002hgg.2_... Hybrid_Cap... view
PAX3 2 223158653 223158653 SKMES1_LUNG 37 Intron Del T - rs112753212 uc002vmt.1 PAX3_uc002vmy.1... Hybrid_Cap...
PDK4 7 95221928 95221928 SKMES1_LUNG 37 Intron Del A - uc003uoa.2 PDK4_uc003unz.2... Hybrid_Cap...
PIK3C2G p.P129del 12 18435399 18435401 SKMES1_LUNG 37 In_Frame_Del Del CCC - uc010sib.1 PIK3C2G_uc001rd... Hybrid_Cap...
PIK3C3 p.R174H 18 39550410 39550410 SKMES1_LUNG 37 Missense_Mutation SNP G A uc002lap.2 PIK3C3_uc010xcl... Hybrid_Cap... view
PKN3 p.P857L 9 131482785 131482785 SKMES1_LUNG 37 Missense_Mutation SNP C T uc004bvw.2 PKN3_uc010myh.2... Hybrid_Cap... view
PRKDC p.P3623S 8 48701502 48701502 SKMES1_LUNG 37 Missense_Mutation SNP G A uc003xqi.2 PRKDC_uc003xqj.... Hybrid_Cap... view
PTPRU p.Y795* 1 29618417 29618417 SKMES1_LUNG 37 Nonsense_Mutation SNP C A uc001bru.2 PTPRU_uc001brv.... Hybrid_Cap... view
RECQL4 p.R766fs 8 145738768 145738768 SKMES1_LUNG 37 Frame_Shift_Del Del G - uc003zdj.2 Hybrid_Cap...
RGS22 p.K233I 8 101078421 101078421 SKMES1_LUNG 37 Missense_Mutation SNP T A uc003yjb.1 RGS22_uc003yja.... Hybrid_Cap... view
ROBO1 p.A898S 3 78701002 78701003 SKMES1_LUNG 37 Missense_Mutation DNP CC AT uc003dqe.2 ROBO1_uc003dqb.... Hybrid_Cap...
ROBO2 p.Q474H 3 77607273 77607273 SKMES1_LUNG 37 Missense_Mutation SNP A T uc003dpz.2 ROBO2_uc003dpy.... Hybrid_Cap... view
ROCK1 p.Q249E 18 18622601 18622601 SKMES1_LUNG 37 Missense_Mutation SNP G C uc002kte.2 Hybrid_Cap... view
RPS6KA2 p.D567Y 6 166836863 166836863 SKMES1_LUNG 37 Missense_Mutation SNP C A uc003qvd.1 RPS6KA2_uc011eg... Hybrid_Cap... view
SORL1 11 121461601 121461601 SKMES1_LUNG 37 Intron SNP C T uc001pxx.2 SORL1_uc010rzp.... Hybrid_Cap... view
SP140 p.G208R 2 231109753 231109753 SKMES1_LUNG 37 Missense_Mutation SNP G C uc002vql.2 SP140_uc010zma.... Hybrid_Cap... view
STK31 7 23872024 23872025 SKMES1_LUNG 37 3'UTR Ins - TTTG rs66787534 uc003sws.3 STK31_uc003swt.... Hybrid_Cap...
TEC 4 48139307 48139310 SKMES1_LUNG 37 3'UTR Del TTAT - rs79098351 uc003gxz.2 Hybrid_Cap...
TG p.T2680I 8 134145755 134145755 SKMES1_LUNG 37 Missense_Mutation SNP C T uc003ytw.2 TG_uc010mdw.2_M... Hybrid_Cap... view
TGFB2 1 218578712 218578712 SKMES1_LUNG 37 Intron SNP G A rs115609448 uc001hln.2 TGFB2_uc001hll.... Hybrid_Cap... view
TOP2B p.F1470L 3 25646317 25646317 SKMES1_LUNG 37 Missense_Mutation SNP A G uc003cdj.2 TOP2B_uc011awm.... Hybrid_Cap... view
TP53 p.E298* 17 7577046 7577046 SKMES1_LUNG 37 Nonsense_Mutation SNP C A uc002gim.2 TP53_uc002gig.1... Hybrid_Cap... view
TP63 3 189507518 189507519 SKMES1_LUNG 37 Intron Ins - AGAG rs62702062;rs79714037 uc003fry.2 TP63_uc003frx.2... Hybrid_Cap...
TRIM33 1 114940215 114940216 SKMES1_LUNG 37 3'UTR Ins - G rs68133208 uc001eew.2 TRIM33_uc010owr... Hybrid_Cap...
TRPS1 8 116635872 116635873 SKMES1_LUNG 37 5'UTR Ins - A rs76893349 uc003yny.2 TRPS1_uc011lhy.... Hybrid_Cap...
TTBK2 p.G421A 15 43069376 43069376 SKMES1_LUNG 37 Missense_Mutation SNP C G uc001zqo.2 TTBK2_uc010bcy.... Hybrid_Cap... view
TTN p.R14451V 2 179475800 179475801 SKMES1_LUNG 37 Missense_Mutation DNP CG AC uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap...
TTN p.G11980V 2 179496978 179496978 SKMES1_LUNG 37 Missense_Mutation SNP C A uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
TTN p.Y9101S 2 179560765 179560765 SKMES1_LUNG 37 Missense_Mutation SNP T G uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
TTN 2 179614943 179614943 SKMES1_LUNG 37 Intron SNP C A uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
UNC13C p.Q918R 15 54307853 54307853 SKMES1_LUNG 37 Missense_Mutation SNP A G uc002ack.2 Hybrid_Cap... view
VEGFC p.S419_splice 4 177605082 177605084 SKMES1_LUNG 37 Splice_Site_Del Del TCA - uc003ius.1 Hybrid_Cap...