Annotation Summary for Cell Line: SK-MEL-5  

Cell line primary name: SK-MEL-5
Cell line aliases:
Gender: F
Site Primary: skin
Histology: malignant_melanoma
Hist Subtype1: NS
Notes:
Source: ATCC
Expression arrays: PARES_p_NCLE_RNA_Redo_HG-U133_Plus_2_B06_257632
SNP arrays: LIMPS_p_NCLE_DNA2N_GenomeWideSNP_6_F02_246732
Oncomap: yes
Hybrid Capture Sequencing: yes


Mutations in SK-MEL-5

GeneProtein
Change
ChrStartEnd SampleNCBI
Build
Variant
Classification
Variant TypeReference
Allele
Tumor
Allele 1
dbSNP IDAnnotation
Transcript
Other
Transcripts
Method View
Reads
Mutation
Assessor
ACACA 17 35766564 35766564 SKMEL5_SKIN 37 5'UTR Del A - uc002hno.2 ACACA_uc002hnn.... Hybrid_Cap...
ADAM17 2 9630245 9630245 SKMEL5_SKIN 37 3'UTR Del T - uc002qzu.2 IAH1_uc010yiz.1... Hybrid_Cap...
ADAM18 p.R255K 8 39495159 39495159 SKMEL5_SKIN 37 Missense_Mutation SNP G A uc003xni.2 ADAM18_uc010lww... Hybrid_Cap... view
ADAM28 8 24211994 24211997 SKMEL5_SKIN 37 3'UTR Del CTAT - rs10610134 uc003xdy.2 ADAM28_uc011laa... Hybrid_Cap...
ADAM32 8 39079124 39079124 SKMEL5_SKIN 37 Intron SNP C T uc003xmt.3 ADAM32_uc011lch... Hybrid_Cap... view
ADAMTS19 p.G784D 5 128994374 128994374 SKMEL5_SKIN 37 Missense_Mutation SNP G A uc003kvb.1 ADAMTS19_uc010j... Hybrid_Cap... view
AKAP4 p.S670F X 49957355 49957355 SKMEL5_SKIN 37 Missense_Mutation SNP G A uc004dow.1 AKAP4_uc004dov.... Hybrid_Cap... view
AKAP9 p.1335_1336insQ 7 91652178 91652179 SKMEL5_SKIN 37 In_Frame_Ins Ins - AAC rs34756483 uc003ulg.2 AKAP9_uc003ule.... Hybrid_Cap...
ALPK2 p.EDTST1006del 18 56204388 56204402 SKMEL5_SKIN 37 In_Frame_Del Del CAGTT... - rs60644017;rs117623369 uc002lhj.3 ALPK2_uc002lhk.... Hybrid_Cap...
APC p.L407F 5 112154948 112154948 SKMEL5_SKIN 37 Missense_Mutation SNP C T uc010jby.2 APC_uc011cvt.1_... Hybrid_Cap... view
ARID1A 1 27107263 27107264 SKMEL5_SKIN 37 3'UTR Ins - C rs3841356 uc001bmv.1 ARID1A_uc001bmu... Hybrid_Cap...
BIRC6 p.D2349N 2 32702628 32702628 SKMEL5_SKIN 37 Missense_Mutation SNP G A uc010ezu.2 Hybrid_Cap... view
BRAF p.V600E 7 140453136 140453136 SKMEL5_SKIN 37 Missense_Mutation SNP A T rs113488022 uc003vwc.3 Hybrid_Cap... view
BRD3 p.Q662* 9 136899904 136899904 SKMEL5_SKIN 37 Nonsense_Mutation SNP G A uc004cew.2 Hybrid_Cap... view
BRSK1 19 55813500 55813500 SKMEL5_SKIN 37 Intron SNP C T uc002qkf.2 BRSK1_uc002qkg.... Hybrid_Cap... view
CABC1 1 227171736 227171737 SKMEL5_SKIN 37 Intron Ins - T rs1574184 uc001hqm.1 CABC1_uc001hqn.... Hybrid_Cap...
CACNB2 10 18828721 18828722 SKMEL5_SKIN 37 3'UTR Ins - AA rs3841459 uc001ipr.2 CACNB2_uc009xjz... Hybrid_Cap...
CDK11B 1 1654066 1654068 SKMEL5_SKIN 37 Intron Del GCG - uc001agv.1 CDK11B_uc001aha... Hybrid_Cap...
CHD1 p.P1684del 5 98192165 98192167 SKMEL5_SKIN 37 In_Frame_Del Del AGG - rs79267787;rs61749618 uc003knf.2 CHD1_uc010jbn.2... Hybrid_Cap...
CIT p.P2024F 12 120128071 120128072 SKMEL5_SKIN 37 Missense_Mutation DNP GG AA uc001txj.1 CIT_uc001txh.1_... Hybrid_Cap...
CLTCL1 p.V1201_splice 22 19189003 19189004 SKMEL5_SKIN 37 Splice_Site_Ins Ins - C rs11386977 uc002zpb.2 CLTCL1_uc011agv... Hybrid_Cap...
CREB3L2 p.T100del 7 137612914 137612916 SKMEL5_SKIN 37 In_Frame_Del Del TGG - uc003vtw.2 CREB3L2_uc003vt... Hybrid_Cap...
DDR1 6 30867243 30867243 SKMEL5_SKIN 37 3'UTR SNP C T uc003nrv.2 DDR1_uc010jse.2... Hybrid_Cap... view
DGKB p.S394L 7 14661109 14661109 SKMEL5_SKIN 37 Missense_Mutation SNP G A uc003ssz.2 DGKB_uc011jxt.1... Hybrid_Cap... view
DOCK3 p.D620N 3 51266981 51266981 SKMEL5_SKIN 37 Missense_Mutation SNP G A uc011bds.1 Hybrid_Cap... view
EHBP1 p.P371S 2 63101488 63101488 SKMEL5_SKIN 37 Missense_Mutation SNP C T uc002sby.2 EHBP1_uc010fcp.... Hybrid_Cap... view
EPHA6 3 97367230 97367231 SKMEL5_SKIN 37 Intron Ins - A rs115253553 uc010how.1 EPHA6_uc003drs.... Hybrid_Cap...
EPHB6 p.Y132* 7 142561954 142561954 SKMEL5_SKIN 37 Nonsense_Mutation SNP C A uc011kst.1 EPHB6_uc011ksu.... Hybrid_Cap... view
EPHB6 7 142568771 142568771 SKMEL5_SKIN 37 3'UTR Del C - uc011kst.1 EPHB6_uc011ksu.... Hybrid_Cap...
ETV1 7 14028708 14028708 SKMEL5_SKIN 37 5'UTR Del A - rs77190713 uc011jxq.1 ETV1_uc011jxn.1... Hybrid_Cap...
FGFR1OP 6 167453519 167453520 SKMEL5_SKIN 37 3'UTR Ins - T rs115519488 uc003qvj.2 CCR6_uc003qvl.2... Hybrid_Cap...
FLI1 11 128638217 128638217 SKMEL5_SKIN 37 Intron Del G - uc010sbu.1 FLI1_uc010sbt.1... Hybrid_Cap...
FN1 2 216244182 216244185 SKMEL5_SKIN 37 Intron Del GTAC - uc002vfa.2 FN1_uc002vfb.2_... Hybrid_Cap...
FNBP1 p.337_344PHQPPPPP>P 9 132686262 132686282 SKMEL5_SKIN 37 In_Frame_Del Del GGGGG... - uc004byw.1 FNBP1_uc011mbv.... Hybrid_Cap...
GLI3 p.V1299L 7 42004776 42004776 SKMEL5_SKIN 37 Missense_Mutation SNP C A uc011kbh.1 GLI3_uc011kbg.1... Hybrid_Cap... view
GLTSCR1 p.S1052F 19 48198700 48198700 SKMEL5_SKIN 37 Missense_Mutation SNP C T uc002phh.3 GLTSCR1_uc002ph... Hybrid_Cap... view
GPR112 p.D2657del X 135474445 135474447 SKMEL5_SKIN 37 In_Frame_Del Del GAT - rs3030295 uc004ezu.1 GPR112_uc010nsb... Hybrid_Cap...
GRIA3 X 122318386 122318387 SKMEL5_SKIN 37 Splice_Site_Ins Ins - G rs66632982 uc004etq.3 GRIA3_uc004etr.... Hybrid_Cap...
GUCY1A2 p.R351* 11 106810341 106810341 SKMEL5_SKIN 37 Nonsense_Mutation SNP G A uc009yxn.1 GUCY1A2_uc001pj... Hybrid_Cap... view
HNF1A 12 121434630 121434631 SKMEL5_SKIN 37 Intron Ins - TCATTCAT rs75100977 uc010szn.1 HNF1A_uc001tze.... Hybrid_Cap...
HNF1B p.D141N 17 36099554 36099554 SKMEL5_SKIN 37 Missense_Mutation SNP C T uc002hok.3 HNF1B_uc010wdi.... Hybrid_Cap... view
HSP90B1 12 104341645 104341648 SKMEL5_SKIN 37 3'UTR Del ACTG - rs2307842 uc001tkb.1 HSP90B1_uc010sw... Hybrid_Cap...
IL1RAP p.L66F 3 190322048 190322048 SKMEL5_SKIN 37 Missense_Mutation SNP C T uc003fsq.2 IL1RAP_uc003fsk... Hybrid_Cap... view
ILK 11 6630029 6630029 SKMEL5_SKIN 37 Intron Del C - uc001mee.2 ILK_uc001mef.2_... Hybrid_Cap...
INSRR p.R108H 1 156823858 156823858 SKMEL5_SKIN 37 Missense_Mutation SNP C T uc010pht.1 NTRK1_uc001fqf.... Hybrid_Cap... view
ITPR1 3 4687470 4687471 SKMEL5_SKIN 37 Intron Ins - CT rs33946275 uc003bqa.2 ITPR1_uc010hbz.... Hybrid_Cap...
KALRN p.S393F 3 124044918 124044918 SKMEL5_SKIN 37 Missense_Mutation SNP C T uc003ehg.2 KALRN_uc010hrv.... Hybrid_Cap... view
KDM6A X 44970788 44970788 SKMEL5_SKIN 37 3'UTR SNP G A uc011mkz.1 KDM6A_uc004dge.... Hybrid_Cap... view
KDR p.S633F 4 55970899 55970899 SKMEL5_SKIN 37 Missense_Mutation SNP G A uc003has.2 KDR_uc003hat.1_... Hybrid_Cap... view
LETM2 8 38265796 38265798 SKMEL5_SKIN 37 3'UTR Del ACT - uc003xlm.1 LETM2_uc003xll.... Hybrid_Cap...
LMTK3 p.L202fs 19 49012148 49012148 SKMEL5_SKIN 37 Frame_Shift_Del Del G - uc002pjk.2 Hybrid_Cap...
LRP1 p.P1029L 12 57563013 57563013 SKMEL5_SKIN 37 Missense_Mutation SNP C T uc001snd.2 LRP1_uc009zpi.1... Hybrid_Cap... view
LRP1B p.E72K 2 142238094 142238094 SKMEL5_SKIN 37 Missense_Mutation SNP C T uc002tvj.1 LRP1B_uc010fnl.... Hybrid_Cap... view
LRRC2 p.S227F 3 46571488 46571488 SKMEL5_SKIN 37 Missense_Mutation SNP G A uc010hji.2 LRRC2_uc003cpu.... Hybrid_Cap... view
MAML2 p.604_607QQQQ>Q 11 95825375 95825383 SKMEL5_SKIN 37 In_Frame_Del Del TGCTG... - rs113349418 uc001pfw.1 Hybrid_Cap...
MAML3 p.Q767_splice 4 140651585 140651587 SKMEL5_SKIN 37 Splice_Site_Del Del CTG - uc003ihz.1 MGST2_uc010ioi.... Hybrid_Cap...
MAP3K1 p.T949del 5 56177849 56177851 SKMEL5_SKIN 37 In_Frame_Del Del CAA - uc003jqw.3 Hybrid_Cap...
MAP3K14 p.R218_splice 17 43364293 43364294 SKMEL5_SKIN 37 Splice_Site_Ins Ins - G rs66766023 uc002iiw.1 MAP3K14_uc010da... Hybrid_Cap...
MAP3K5 6 136878752 136878752 SKMEL5_SKIN 37 3'UTR Del T - rs79903899 uc003qhc.2 MAP3K5_uc011edj... Hybrid_Cap...
MAPK14 6 36076345 36076354 SKMEL5_SKIN 37 3'UTR Del GTGTG... - rs80147786 uc003olp.2 MAPK14_uc003olq... Hybrid_Cap...
MAPKAPK3 3 50685575 50685575 SKMEL5_SKIN 37 3'UTR Del A - rs76026164 uc003day.1 MAPKAPK3_uc003d... Hybrid_Cap...
MED13L p.R233C 12 116457706 116457706 SKMEL5_SKIN 37 Missense_Mutation SNP G A uc001tvw.2 Hybrid_Cap... view
MITF 3 69812788 69812788 SKMEL5_SKIN 37 Intron SNP C T uc003dnz.2 MITF_uc011bgb.1... Hybrid_Cap... view
MMP1 p.G255D 11 102666200 102666200 SKMEL5_SKIN 37 Missense_Mutation SNP C T uc001phi.2 MMP1_uc010ruv.1... Hybrid_Cap... view
MYT1 p.G813R 20 62854504 62854504 SKMEL5_SKIN 37 Missense_Mutation SNP G A uc002yii.2 MYT1_uc002yih.2... Hybrid_Cap... view
NCAM1 11 112832307 112832308 SKMEL5_SKIN 37 5'UTR Ins - A rs117108942 uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCAM1 11 112832340 112832340 SKMEL5_SKIN 37 5'UTR Del C - uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NEK3 p.K313_splice 13 52718050 52718051 SKMEL5_SKIN 37 Splice_Site_Ins Ins - T rs72514762 uc001vgh.2 NEK3_uc001vgg.2... Hybrid_Cap...
NFIA 1 61921185 61921186 SKMEL5_SKIN 37 3'UTR Ins - T rs57270124;rs76131997 uc010oos.1 NFIA_uc001czy.2... Hybrid_Cap...
NIN p.P1969S 14 51196414 51196414 SKMEL5_SKIN 37 Missense_Mutation SNP G A uc001wyi.2 NIN_uc001wyj.2_... Hybrid_Cap... view
NOTCH4 p.15_16LL>L 6 32191659 32191661 SKMEL5_SKIN 37 In_Frame_Del Del AGC - uc003obb.2 NOTCH4_uc011dpu... Hybrid_Cap...
NPR1 1 153665919 153665920 SKMEL5_SKIN 37 3'UTR Ins - C rs66682713 uc001fcs.3 NPR1_uc010pdz.1... Hybrid_Cap...
NPR2 p.S943F 9 35808621 35808621 SKMEL5_SKIN 37 Missense_Mutation SNP C T uc003zyd.2 NPR2_uc010mlb.2... Hybrid_Cap... view
NR1H2 p.176_177insQ 19 50881820 50881821 SKMEL5_SKIN 37 In_Frame_Ins Ins - AAC rs66783852;rs112359270 uc010enw.2 NR1H2_uc002prv.... Hybrid_Cap...
NTRK2 p.P185L 9 87325677 87325677 SKMEL5_SKIN 37 Missense_Mutation SNP C T uc004anz.1 NTRK2_uc004anv.... Hybrid_Cap... view
NUMA1 p.A96V 11 71734115 71734115 SKMEL5_SKIN 37 Missense_Mutation SNP G A uc001orl.1 NUMA1_uc001ork.... Hybrid_Cap... view
NUP153 6 17616293 17616295 SKMEL5_SKIN 37 3'UTR Del TGT - uc011dje.1 NUP153_uc003ncd... Hybrid_Cap...
ODZ1 p.P1221S X 123630900 123630900 SKMEL5_SKIN 37 Missense_Mutation SNP G A uc010nqy.2 ODZ1_uc011muj.1... Hybrid_Cap... view
PAX3 2 223158653 223158653 SKMEL5_SKIN 37 Intron Del T - rs112753212 uc002vmt.1 PAX3_uc002vmy.1... Hybrid_Cap...
PDE4DIP 1 144931723 144931723 SKMEL5_SKIN 37 Intron SNP G T uc001elw.3 NBPF10_uc009wir... Hybrid_Cap... view
PDGFRA 4 55131002 55131002 SKMEL5_SKIN 37 Intron Del A - uc003han.3 PDGFRA_uc003haa... Hybrid_Cap...
PDK4 7 95221928 95221928 SKMEL5_SKIN 37 Intron Del A - uc003uoa.2 PDK4_uc003unz.2... Hybrid_Cap...
PIK3C2A p.P1402S 11 17118726 17118726 SKMEL5_SKIN 37 Missense_Mutation SNP G A uc001mmq.3 PIK3C2A_uc009yg... Hybrid_Cap... view
PIK3C2G p.P129del 12 18435399 18435401 SKMEL5_SKIN 37 In_Frame_Del Del CCC - uc010sib.1 PIK3C2G_uc001rd... Hybrid_Cap...
PIK3CB p.R48Q 3 138478043 138478043 SKMEL5_SKIN 37 Missense_Mutation SNP C T uc011bmq.1 Hybrid_Cap... view
PRKD1 p.R740W 14 30066913 30066913 SKMEL5_SKIN 37 Missense_Mutation SNP G A uc001wqh.2 Hybrid_Cap... view
PRKDC p.L1244fs 8 48805816 48805817 SKMEL5_SKIN 37 Frame_Shift_Ins Ins - G rs67588121 uc003xqi.2 PRKDC_uc003xqj.... Hybrid_Cap...
PTPRT p.K1053fs 20 40739124 40739125 SKMEL5_SKIN 37 Frame_Shift_Ins Ins - T uc010ggj.2 PTPRT_uc002xkg.... Hybrid_Cap...
PTPRT p.P485S 20 41076967 41076967 SKMEL5_SKIN 37 Missense_Mutation SNP G A uc010ggj.2 PTPRT_uc002xkg.... Hybrid_Cap... view
PTPRU 1 29652320 29652320 SKMEL5_SKIN 37 3'UTR SNP C T uc001bru.2 PTPRU_uc001brv.... Hybrid_Cap... view
RAPGEF2 4 160189200 160189201 SKMEL5_SKIN 37 5'UTR Ins - T rs72011511 uc003iqg.3 Hybrid_Cap...
RCBTB2 p.R479C 13 49070422 49070422 SKMEL5_SKIN 37 Missense_Mutation SNP G A uc010tgg.1 RCBTB2_uc001vch... Hybrid_Cap... view
RECQL4 p.R766fs 8 145738768 145738768 SKMEL5_SKIN 37 Frame_Shift_Del Del G - uc003zdj.2 Hybrid_Cap...
RICTOR p.P1626L 5 38944656 38944656 SKMEL5_SKIN 37 Missense_Mutation SNP G A uc003jlo.2 RICTOR_uc003jlp... Hybrid_Cap... view
ROBO2 3 77666937 77666937 SKMEL5_SKIN 37 Intron Del A - rs78745603 uc003dpz.2 ROBO2_uc003dpy.... Hybrid_Cap...
RPS6KA5 14 91360733 91360734 SKMEL5_SKIN 37 Intron Ins - T rs77438853 uc001xys.2 RPS6KA5_uc010tw... Hybrid_Cap...
RPS6KL1 14 75373626 75373627 SKMEL5_SKIN 37 3'UTR Ins - TGAT uc001xqx.1 RPS6KL1_uc001xq... Hybrid_Cap...
SEPT9 17 75494787 75494788 SKMEL5_SKIN 37 3'UTR Ins - C rs5822173 uc002jts.3 SEPT9_uc010wtk.... Hybrid_Cap...
SGK269 p.R1622L 15 77406874 77406874 SKMEL5_SKIN 37 Missense_Mutation SNP C A uc002bcm.2 Hybrid_Cap... view
SMG1 p.P2151S 16 18853545 18853545 SKMEL5_SKIN 37 Missense_Mutation SNP G A uc002dfm.2 SMG1_uc010bwb.2... Hybrid_Cap... view
SPP1 p.D120N 4 88902729 88902729 SKMEL5_SKIN 37 Missense_Mutation SNP G A uc011cde.1 SPP1_uc003hra.2... Hybrid_Cap... view
STARD3 p.S21P 17 37809845 37809845 SKMEL5_SKIN 37 Missense_Mutation SNP T C uc002hsd.2 STARD3_uc010weg... Hybrid_Cap... view
STK31 7 23872024 23872025 SKMEL5_SKIN 37 3'UTR Ins - TTTG rs66787534 uc003sws.3 STK31_uc003swt.... Hybrid_Cap...
TERT 5 1282870 1282870 SKMEL5_SKIN 37 Intron SNP C T uc003jcb.1 TERT_uc003jbz.1... Hybrid_Cap... view
TET2 p.S498F 4 106156529 106156529 SKMEL5_SKIN 37 Missense_Mutation SNP C T uc011cez.1 TET2_uc003hxk.2... Hybrid_Cap... view
TGS1 p.T332A 8 56699451 56699451 SKMEL5_SKIN 37 Missense_Mutation SNP A G uc003xsj.3 TGS1_uc010lyh.2... Hybrid_Cap... view
TMEM123 11 102269398 102269398 SKMEL5_SKIN 37 3'UTR Del G - uc001pha.2 TMEM123_uc009yx... Hybrid_Cap...
TP63 3 189507518 189507519 SKMEL5_SKIN 37 Intron Ins - AGAG rs62702062;rs79714037 uc003fry.2 TP63_uc003frx.2... Hybrid_Cap...
TRIM33 1 114940215 114940216 SKMEL5_SKIN 37 3'UTR Ins - G rs68133208 uc001eew.2 TRIM33_uc010owr... Hybrid_Cap...
TRPM6 p.A917V 9 77400959 77400959 SKMEL5_SKIN 37 Missense_Mutation SNP G A uc004ajl.1 TRPM6_uc004ajk.... Hybrid_Cap... view
TTBK1 p.E771del 6 43250726 43250728 SKMEL5_SKIN 37 In_Frame_Del Del GAA - uc003ouq.1 Hybrid_Cap...
TTN p.I28245T 2 179413915 179413915 SKMEL5_SKIN 37 Missense_Mutation SNP A G uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
TTN p.E3172K 2 179631297 179631297 SKMEL5_SKIN 37 Missense_Mutation SNP C T uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
VEGFC p.S419_splice 4 177605082 177605084 SKMEL5_SKIN 37 Splice_Site_Del Del TCA - uc003ius.1 Hybrid_Cap...
WEE2 p.M147I 7 141414107 141414107 SKMEL5_SKIN 37 Missense_Mutation SNP G A uc003vwn.2 FLJ40852_uc011k... Hybrid_Cap... view
WHSC1 p.P36S 4 1902487 1902487 SKMEL5_SKIN 37 Missense_Mutation SNP C T uc003gdz.3 WHSC1_uc003geb.... Hybrid_Cap... view