Annotation Summary for Cell Line: SK-MEL-1  

Cell line primary name: SK-MEL-1
Cell line aliases:
Gender: M
Site Primary: skin
Histology: malignant_melanoma
Hist Subtype1: NS
Notes:
Source: ATCC
Expression arrays: AGENT_p_NCLE_RNA6_HG-U133_Plus_2_F04_436458
SNP arrays: LOBBY_p_NCLE_DNAAffy6_GenomeWideSNP_6_C11_437278
Oncomap: yes
Hybrid Capture Sequencing: yes


Mutations in SK-MEL-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.R2272* 12 109702063 109702063 SKMEL1_SKIN 37 Nonsense_Mutation SNP C T uc001tob.2 ACACB_uc001toc.... Hybrid_Cap... view
ADAM17 2 9630245 9630245 SKMEL1_SKIN 37 3'UTR Del T - uc002qzu.2 IAH1_uc010yiz.1... Hybrid_Cap...
ADAM28 8 24211994 24211997 SKMEL1_SKIN 37 3'UTR Del CTAT - rs10610134 uc003xdy.2 ADAM28_uc011laa... Hybrid_Cap...
AKAP12 p.1531_1532insE 6 151674116 151674117 SKMEL1_SKIN 37 In_Frame_Ins Ins - GAG rs34737819 uc011eep.1 AKAP12_uc003qoe... Hybrid_Cap...
AKAP9 p.1335_1336insQ 7 91652178 91652179 SKMEL1_SKIN 37 In_Frame_Ins Ins - AAC rs34756483 uc003ulg.2 AKAP9_uc003ule.... Hybrid_Cap...
ARHGEF10 p.L193fs 8 1814725 1814726 SKMEL1_SKIN 37 Frame_Shift_Ins Ins - G uc003wpr.2 ARHGEF10_uc003w... Hybrid_Cap...
ASPH p.E746* 8 62415959 62415959 SKMEL1_SKIN 37 Nonsense_Mutation SNP C A uc003xuj.2 ASPH_uc011leg.1... Hybrid_Cap... view
ASPH p.A264_splice 8 62550924 62550925 SKMEL1_SKIN 37 Splice_Site_Ins Ins - A rs5891816 uc003xuj.2 ASPH_uc011leg.1... Hybrid_Cap...
BAG4 p.W103* 8 38050243 38050243 SKMEL1_SKIN 37 Nonsense_Mutation SNP G A uc003xky.1 BAG4_uc003xkz.1... Hybrid_Cap... view
BCR 22 23631813 23631814 SKMEL1_SKIN 37 Intron Ins - C rs66503844 uc002zww.2 BCR_uc002zwx.2_... Hybrid_Cap...
BCR 22 23632777 23632778 SKMEL1_SKIN 37 Intron Ins - T uc002zww.2 BCR_uc002zwx.2_... Hybrid_Cap...
BMP4 14 54416602 54416602 SKMEL1_SKIN 37 3'UTR Del T - rs76335800 uc001xal.3 BMP4_uc010aoh.2... Hybrid_Cap...
BRAF p.V600E 7 140453136 140453136 SKMEL1_SKIN 37 Missense_Mutation SNP A T rs113488022 uc003vwc.3 Hybrid_Cap... view
CACNB2 10 18828721 18828722 SKMEL1_SKIN 37 3'UTR Ins - AA rs3841459 uc001ipr.2 CACNB2_uc009xjz... Hybrid_Cap...
CDK11B 1 1654066 1654068 SKMEL1_SKIN 37 Intron Del GCG - uc001agv.1 CDK11B_uc001aha... Hybrid_Cap...
CDK17 12 96674440 96674440 SKMEL1_SKIN 37 Intron SNP C T rs116956294 uc001tep.1 CDK17_uc009ztk.... Hybrid_Cap... view
CHD1 p.P1684del 5 98192165 98192167 SKMEL1_SKIN 37 In_Frame_Del Del AGG - rs79267787;rs61749618 uc003knf.2 CHD1_uc010jbn.2... Hybrid_Cap...
CLTCL1 p.V1201_splice 22 19189003 19189004 SKMEL1_SKIN 37 Splice_Site_Ins Ins - C rs11386977 uc002zpb.2 CLTCL1_uc011agv... Hybrid_Cap...
CLTCL1 22 19196673 19196674 SKMEL1_SKIN 37 Intron Ins - A uc002zpb.2 CLTCL1_uc011agv... Hybrid_Cap...
CSMD3 p.C1701* 8 113504893 113504893 SKMEL1_SKIN 37 Nonsense_Mutation SNP G T uc003ynu.2 CSMD3_uc003yns.... Hybrid_Cap... view
CTBP2 p.K974fs 10 126678123 126678123 SKMEL1_SKIN 37 Frame_Shift_Del Del T - uc001lie.3 CTBP2_uc009yak.... Hybrid_Cap...
CTNNB1 p.S33C 3 41266101 41266101 SKMEL1_SKIN 37 Missense_Mutation SNP C G uc010hia.1 CTNNB1_uc003ckp... Hybrid_Cap... view
DNAH8 p.A4024T 6 38942192 38942192 SKMEL1_SKIN 37 Missense_Mutation SNP G A uc003ooe.1 DNAH8_uc003oog.... Hybrid_Cap... view
DYRK1A 21 38884966 38884967 SKMEL1_SKIN 37 3'UTR Ins - T rs72430212 uc002ywk.2 DYRK1A_uc002ywi... Hybrid_Cap...
EDN1 6 12290729 12290729 SKMEL1_SKIN 37 5'UTR Del A - uc003nae.3 EDN1_uc010jpb.2... Hybrid_Cap...
EPHA6 3 97367230 97367231 SKMEL1_SKIN 37 Intron Ins - A rs115253553 uc010how.1 EPHA6_uc003drs.... Hybrid_Cap...
EPHB4 p.P36S 7 100421842 100421842 SKMEL1_SKIN 37 Missense_Mutation SNP G A uc003uwn.1 EPHB4_uc003uwm.... Hybrid_Cap... view
EPHB6 p.S167F 7 142562058 142562058 SKMEL1_SKIN 37 Missense_Mutation SNP C T uc011kst.1 EPHB6_uc011ksu.... Hybrid_Cap... view
EPHB6 p.R902H 7 142568064 142568064 SKMEL1_SKIN 37 Missense_Mutation SNP G A uc011kst.1 EPHB6_uc011ksu.... Hybrid_Cap... view
ETV1 7 14028708 14028708 SKMEL1_SKIN 37 5'UTR Del A - rs77190713 uc011jxq.1 ETV1_uc011jxn.1... Hybrid_Cap...
FGFR1OP 6 167453519 167453520 SKMEL1_SKIN 37 3'UTR Ins - T rs115519488 uc003qvj.2 CCR6_uc003qvl.2... Hybrid_Cap...
FGFR3 4 1809128 1809129 SKMEL1_SKIN 37 3'UTR Del GT - uc003gdu.2 FGFR3_uc003gdr.... Hybrid_Cap...
FIP1L1 p.A582G 4 54325576 54325576 SKMEL1_SKIN 37 Missense_Mutation SNP C G uc003gzy.2 PDGFRA_uc003haa... Hybrid_Cap... view
FN1 2 216244182 216244185 SKMEL1_SKIN 37 Intron Del GTAC - uc002vfa.2 FN1_uc002vfb.2_... Hybrid_Cap...
FOXP1 3 71008341 71008342 SKMEL1_SKIN 37 3'UTR Ins - T rs11433724;rs114233617 uc003dol.2 FOXP1_uc003dom.... Hybrid_Cap...
FUS p.R384H 16 31201442 31201442 SKMEL1_SKIN 37 Missense_Mutation SNP G A uc002ebi.2 FUS_uc002ebf.2_... Hybrid_Cap... view
GNAS p.R217C 20 57415810 57415810 SKMEL1_SKIN 37 Missense_Mutation SNP C T uc002xzt.2 GNASAS_uc002xzs... Hybrid_Cap... view
GNAS p.S666N 20 57430317 57430317 SKMEL1_SKIN 37 Missense_Mutation SNP G A uc002xzw.2 GNAS_uc002xzt.2... Hybrid_Cap... view
GRIA3 X 122318386 122318387 SKMEL1_SKIN 37 Splice_Site_Ins Ins - G rs66632982 uc004etq.3 GRIA3_uc004etr.... Hybrid_Cap...
GUCY2C p.L785M 12 14778746 14778746 SKMEL1_SKIN 37 Missense_Mutation SNP G T uc001rcd.2 Hybrid_Cap... view
GUCY2C 12 14827464 14827466 SKMEL1_SKIN 37 Intron Del ATC - rs72525754;rs3083879 uc001rcd.2 GUCY2C_uc009zhz... Hybrid_Cap...
HDAC4 2 240274426 240274426 SKMEL1_SKIN 37 5'UTR SNP G A uc002vyk.3 HDAC4_uc010fza.... Hybrid_Cap... view
HGF p.E174K 7 81381541 81381541 SKMEL1_SKIN 37 Missense_Mutation SNP C T uc003uhl.2 HGF_uc003uhm.2_... Hybrid_Cap... view
HIF1A 14 62213929 62213930 SKMEL1_SKIN 37 3'UTR Ins - T rs67890419 uc001xfs.2 HIF1A_uc001xfq.... Hybrid_Cap...
HNF1A 12 121434630 121434631 SKMEL1_SKIN 37 Intron Ins - TCATTCAT rs75100977 uc010szn.1 HNF1A_uc001tze.... Hybrid_Cap...
HSP90AA1 p.E390del 14 102551195 102551197 SKMEL1_SKIN 37 In_Frame_Del Del TTC - uc001ykv.3 HSP90AA1_uc001y... Hybrid_Cap...
ILK 11 6630029 6630029 SKMEL1_SKIN 37 Intron Del C - uc001mee.2 ILK_uc001mef.2_... Hybrid_Cap...
ING1 p.K331fs 13 111372003 111372004 SKMEL1_SKIN 37 Frame_Shift_Del Del GC - uc001vri.2 ING1_uc001vrf.2... Hybrid_Cap...
INHBA 7 41729144 41729144 SKMEL1_SKIN 37 3'UTR SNP A T uc003thq.2 INHBA_uc003thr.... Hybrid_Cap... view
ITIH5L p.D266N X 54800621 54800621 SKMEL1_SKIN 37 Missense_Mutation SNP C T uc004dtj.2 Hybrid_Cap... view
ITPR2 p.R470_splice 12 26834804 26834805 SKMEL1_SKIN 37 Splice_Site_Ins Ins - ACTC rs66696203;rs59199365 uc001rhg.2 Hybrid_Cap...
KLK7 19 51480672 51480675 SKMEL1_SKIN 37 3'UTR Del GGTT - uc002puo.2 KLK7_uc002pup.2... Hybrid_Cap...
KLK7 p.A2A 19 51485650 51485650 SKMEL1_SKIN 37 Silent SNP T G uc002puo.2 KLK7_uc002pup.2... Hybrid_Cap... view
MAF 16 79628325 79628325 SKMEL1_SKIN 37 3'UTR Del A - uc002ffm.2 MAF_uc002ffn.2_... Hybrid_Cap...
MAML2 p.M857V 11 95713014 95713014 SKMEL1_SKIN 37 Missense_Mutation SNP T C uc001pfw.1 Hybrid_Cap... view
MAML3 p.Q767_splice 4 140651585 140651587 SKMEL1_SKIN 37 Splice_Site_Del Del CTG - uc003ihz.1 MGST2_uc010ioi.... Hybrid_Cap...
MAP3K1 p.T949del 5 56177849 56177851 SKMEL1_SKIN 37 In_Frame_Del Del CAA - uc003jqw.3 Hybrid_Cap...
MAP3K14 p.R218_splice 17 43364293 43364294 SKMEL1_SKIN 37 Splice_Site_Ins Ins - G rs66766023 uc002iiw.1 MAP3K14_uc010da... Hybrid_Cap...
MAP3K5 6 136878895 136878895 SKMEL1_SKIN 37 3'UTR SNP G A uc003qhc.2 MAP3K5_uc011edj... Hybrid_Cap... view
MAPK15 p.T381P 8 144803518 144803518 SKMEL1_SKIN 37 Missense_Mutation SNP A C rs56241827 uc003yzj.2 Hybrid_Cap... view
MEN1 p.D253N 11 64575065 64575065 SKMEL1_SKIN 37 Missense_Mutation SNP C T uc001obj.2 MEN1_uc001obk.2... Hybrid_Cap... view
MLLT6 17 36881873 36881873 SKMEL1_SKIN 37 3'UTR Del C - uc002hqi.3 MLLT6_uc002hqk.... Hybrid_Cap...
MYH1 p.H1594Y 17 10399743 10399743 SKMEL1_SKIN 37 Missense_Mutation SNP G A uc002gmo.2 Hybrid_Cap... view
MYO3A p.R961G 10 26446326 26446326 SKMEL1_SKIN 37 Missense_Mutation SNP A G uc001isn.2 MYO3A_uc009xko.... Hybrid_Cap... view
MYST3 p.M482K 8 41832259 41832259 SKMEL1_SKIN 37 Missense_Mutation SNP A T uc010lxb.2 MYST3_uc010lxc.... Hybrid_Cap... view
NCAM1 11 112832307 112832308 SKMEL1_SKIN 37 5'UTR Ins - A rs117108942 uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCAM1 11 112832340 112832340 SKMEL1_SKIN 37 5'UTR Del C - uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCOA3 p.Q1276del 20 46279837 46279839 SKMEL1_SKIN 37 In_Frame_Del Del CAG - rs2664555 uc002xtk.2 NCOA3_uc010ght.... Hybrid_Cap...
NEK3 p.K313_splice 13 52718050 52718051 SKMEL1_SKIN 37 Splice_Site_Ins Ins - T rs72514762 uc001vgh.2 NEK3_uc001vgg.2... Hybrid_Cap...
NLRP1 p.E256K 17 5463250 5463250 SKMEL1_SKIN 37 Missense_Mutation SNP C T uc002gci.2 NLRP1_uc002gcg.... Hybrid_Cap... view
NOS3 p.R728Q 7 150706088 150706088 SKMEL1_SKIN 37 Missense_Mutation SNP G A uc003wif.2 NOS3_uc011kuy.1... Hybrid_Cap... view
NPM1 5 170837734 170837734 SKMEL1_SKIN 37 3'UTR Del T - uc011dex.1 NPM1_uc003mbi.2... Hybrid_Cap...
NR1H2 p.176_177insQ 19 50881820 50881821 SKMEL1_SKIN 37 In_Frame_Ins Ins - AAC rs66783852;rs112359270 uc010enw.2 NR1H2_uc002prv.... Hybrid_Cap...
NR1H2 p.176_177insQ 19 50881822 50881823 SKMEL1_SKIN 37 In_Frame_Ins Ins - CAG rs61751954;rs1052533 uc010enw.2 NR1H2_uc002prv.... Hybrid_Cap...
PAK3 p.P73S X 110385365 110385365 SKMEL1_SKIN 37 Missense_Mutation SNP C T uc010npv.1 PAK3_uc010npt.1... Hybrid_Cap... view
PDE4DIP p.L601fs 1 144915624 144915624 SKMEL1_SKIN 37 Frame_Shift_Del Del G - rs1778112 uc001elw.3 NBPF10_uc009wir... Hybrid_Cap...
PDE4DIP 1 144930651 144930651 SKMEL1_SKIN 37 Intron SNP A G uc001elw.3 NBPF10_uc009wir... Hybrid_Cap... view
PDGFRA 4 55131002 55131002 SKMEL1_SKIN 37 Intron Del A - uc003han.3 PDGFRA_uc003haa... Hybrid_Cap...
PIK3C2G p.P129del 12 18435399 18435401 SKMEL1_SKIN 37 In_Frame_Del Del CCC - uc010sib.1 PIK3C2G_uc001rd... Hybrid_Cap...
PIP4K2A p.N346T 10 22829003 22829003 SKMEL1_SKIN 37 Missense_Mutation SNP T G uc001irl.3 PIP4K2A_uc010qc... Hybrid_Cap... view
PKHD1 6 51483864 51483864 SKMEL1_SKIN 37 3'UTR SNP C A uc003pah.1 Hybrid_Cap... view
PRKD1 p.R408M 14 30103715 30103715 SKMEL1_SKIN 37 Missense_Mutation SNP C A uc001wqh.2 Hybrid_Cap... view
PRKDC p.L1244fs 8 48805816 48805817 SKMEL1_SKIN 37 Frame_Shift_Ins Ins - G rs67588121 uc003xqi.2 PRKDC_uc003xqj.... Hybrid_Cap...
PXDN p.W1009C 2 1652525 1652525 SKMEL1_SKIN 37 Missense_Mutation SNP C A uc002qxa.2 Hybrid_Cap... view
RAD50 p.K874E 5 131940593 131940593 SKMEL1_SKIN 37 Missense_Mutation SNP A G uc003kxi.2 RAD50_uc003kxh.... Hybrid_Cap... view
RASGRF2 p.E837K 5 80419499 80419499 SKMEL1_SKIN 37 Missense_Mutation SNP G A uc003kha.1 RASGRF2_uc011ct... Hybrid_Cap... view
RECQL4 p.R766fs 8 145738768 145738768 SKMEL1_SKIN 37 Frame_Shift_Del Del G - uc003zdj.2 Hybrid_Cap...
ROBO1 p.P1188L 3 78680374 78680374 SKMEL1_SKIN 37 Missense_Mutation SNP G A uc003dqe.2 ROBO1_uc003dqb.... Hybrid_Cap... view
RPS6KB1 17 58024224 58024225 SKMEL1_SKIN 37 3'UTR Ins - AA rs67846207 uc002ixy.2 RPS6KB1_uc010dd... Hybrid_Cap...
RPS6KL1 14 75373626 75373627 SKMEL1_SKIN 37 3'UTR Ins - TGAT uc001xqx.1 RPS6KL1_uc001xq... Hybrid_Cap...
RPTOR 17 78831798 78831798 SKMEL1_SKIN 37 Intron SNP C T uc002jyt.1 RPTOR_uc010wuf.... Hybrid_Cap... view
RUNX2 6 45515197 45515197 SKMEL1_SKIN 37 3'UTR SNP A G uc011dvx.1 RUNX2_uc011dvy.... Hybrid_Cap... view
SGK269 p.R1699G 15 77406644 77406644 SKMEL1_SKIN 37 Missense_Mutation SNP G C rs34004337 uc002bcm.2 Hybrid_Cap... view
SMURF2 17 62541834 62541835 SKMEL1_SKIN 37 3'UTR Ins - A rs59188589 uc002jep.1 SMURF2_uc002jeq... Hybrid_Cap...
STK25 2 242435659 242435662 SKMEL1_SKIN 37 Intron Del AAGG - rs3215138;rs75497042 uc002wbm.2 STK25_uc002wbk.... Hybrid_Cap...
STK31 7 23872024 23872025 SKMEL1_SKIN 37 3'UTR Ins - TTTG rs66787534 uc003sws.3 STK31_uc003swt.... Hybrid_Cap...
TACC3 4 1739519 1739527 SKMEL1_SKIN 37 Intron Del GCCAT... - rs114226356 uc003gdo.2 TACC3_uc010ibz.... Hybrid_Cap...
TAOK2 p.L1003M 16 29998579 29998579 SKMEL1_SKIN 37 Missense_Mutation SNP C A uc010bzm.1 BOLA2_uc010bzb.... Hybrid_Cap... view
TEC 4 48139307 48139310 SKMEL1_SKIN 37 3'UTR Del TTAT - rs79098351 uc003gxz.2 Hybrid_Cap...
TIAM1 21 32496783 32496783 SKMEL1_SKIN 37 Intron SNP A T uc002yow.1 TIAM1_uc011adk.... Hybrid_Cap... view
TMEM123 11 102269398 102269398 SKMEL1_SKIN 37 3'UTR Del G - uc001pha.2 TMEM123_uc009yx... Hybrid_Cap...
TMEM123 11 102269461 102269461 SKMEL1_SKIN 37 3'UTR Del G - uc001pha.2 TMEM123_uc009yx... Hybrid_Cap...
TNIK p.A1181T 3 170789020 170789020 SKMEL1_SKIN 37 Missense_Mutation SNP C T uc003fhh.2 TNIK_uc003fhi.2... Hybrid_Cap... view
TRIM33 1 114940215 114940216 SKMEL1_SKIN 37 3'UTR Ins - G rs68133208 uc001eew.2 TRIM33_uc010owr... Hybrid_Cap...
TRPS1 8 116635872 116635873 SKMEL1_SKIN 37 5'UTR Ins - A rs76893349 uc003yny.2 TRPS1_uc011lhy.... Hybrid_Cap...
TTN p.A15902V 2 179466408 179466408 SKMEL1_SKIN 37 Missense_Mutation SNP G A uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
TTN p.T15478I 2 179469767 179469767 SKMEL1_SKIN 37 Missense_Mutation SNP G A uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
TXK p.R241C 4 48091830 48091830 SKMEL1_SKIN 37 Missense_Mutation SNP G A uc003gxx.3 TXK_uc003gxy.1_... Hybrid_Cap... view
VEGFC p.S419_splice 4 177605082 177605084 SKMEL1_SKIN 37 Splice_Site_Del Del TCA - uc003ius.1 Hybrid_Cap...
VRK2 p.N211S 2 58350324 58350324 SKMEL1_SKIN 37 Missense_Mutation SNP A G rs36081172 uc002rzo.2 VRK2_uc010fcb.2... Hybrid_Cap... view