Annotation Summary for Cell Line: SK-MEL-3  

Cell line primary name: SK-MEL-3
Cell line aliases:
Gender: F
Site Primary: skin
Histology: malignant_melanoma
Hist Subtype1: NS
Notes:
Source: ATCC
Expression arrays: METIS_p_NCLE_RNA1_Human_U133_Plus_2.0_E01_240946
SNP arrays: HONEY_p_NCLE_DNAAffy3_S_GenomeWideSNP_6_A12_293302
Oncomap: yes
Hybrid Capture Sequencing: yes


Mutations in SK-MEL-3

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 SKMEL3_SKIN 37 In_Frame_Del Del TGT - rs55712143 uc002sfp.2 AAK1_uc010fdk.2... Hybrid_Cap...
ADAM17 2 9630245 9630245 SKMEL3_SKIN 37 3'UTR Del T - uc002qzu.2 IAH1_uc010yiz.1... Hybrid_Cap...
ADAM28 8 24211994 24211997 SKMEL3_SKIN 37 3'UTR Del CTAT - rs10610134 uc003xdy.2 ADAM28_uc011laa... Hybrid_Cap...
AKAP12 p.1531_1532insE 6 151674116 151674117 SKMEL3_SKIN 37 In_Frame_Ins Ins - GAG rs34737819 uc011eep.1 AKAP12_uc003qoe... Hybrid_Cap...
AKAP9 p.1335_1336insQ 7 91652178 91652179 SKMEL3_SKIN 37 In_Frame_Ins Ins - AAC rs34756483 uc003ulg.2 AKAP9_uc003ule.... Hybrid_Cap...
ANAPC5 12 121746114 121746114 SKMEL3_SKIN 37 3'UTR SNP G A uc001uag.2 ANAPC5_uc010szu... Hybrid_Cap... view
ASPH p.A264_splice 8 62550924 62550925 SKMEL3_SKIN 37 Splice_Site_Ins Ins - A rs5891816 uc003xuj.2 ASPH_uc011leg.1... Hybrid_Cap...
BCR 22 23631813 23631814 SKMEL3_SKIN 37 Intron Ins - C rs66503844 uc002zww.2 BCR_uc002zwx.2_... Hybrid_Cap...
BRAF p.V600E 7 140453136 140453136 SKMEL3_SKIN 37 Missense_Mutation SNP A T rs113488022 uc003vwc.3 Hybrid_Cap... view
BRD2 6 32948599 32948599 SKMEL3_SKIN 37 3'UTR Del C - uc010juh.2 BRD2_uc003ocn.3... Hybrid_Cap...
CARD10 p.KE272del 22 37906309 37906314 SKMEL3_SKIN 37 In_Frame_Del Del CTCCT... - uc003asx.1 CARD10_uc003ast... Hybrid_Cap...
CHD1 p.P1684del 5 98192165 98192167 SKMEL3_SKIN 37 In_Frame_Del Del AGG - rs79267787;rs61749618 uc003knf.2 CHD1_uc010jbn.2... Hybrid_Cap...
CLTCL1 p.V1201_splice 22 19189003 19189004 SKMEL3_SKIN 37 Splice_Site_Ins Ins - C rs11386977 uc002zpb.2 CLTCL1_uc011agv... Hybrid_Cap...
COL14A1 p.A1186T 8 121292248 121292248 SKMEL3_SKIN 37 Missense_Mutation SNP G A uc003yox.2 COL14A1_uc003yo... Hybrid_Cap... view
CREB3L2 p.T100del 7 137612914 137612916 SKMEL3_SKIN 37 In_Frame_Del Del TGG - uc003vtw.2 CREB3L2_uc003vt... Hybrid_Cap...
CTBP2 p.K974fs 10 126678123 126678123 SKMEL3_SKIN 37 Frame_Shift_Del Del T - uc001lie.3 CTBP2_uc009yak.... Hybrid_Cap...
DACH1 13 72014625 72014626 SKMEL3_SKIN 37 3'UTR Ins - T rs117109529 uc010thn.1 DACH1_uc010tho.... Hybrid_Cap...
DNAH8 p.K1324E 6 38810455 38810455 SKMEL3_SKIN 37 Missense_Mutation SNP A G uc003ooe.1 Hybrid_Cap... view
DNAH8 p.A4441T 6 38998016 38998016 SKMEL3_SKIN 37 Missense_Mutation SNP G A uc003ooe.1 Hybrid_Cap... view
DOCK3 p.H681Y 3 51274960 51274960 SKMEL3_SKIN 37 Missense_Mutation SNP C T uc011bds.1 Hybrid_Cap... view
DPYD p.C29Y 1 98348884 98348885 SKMEL3_SKIN 37 Missense_Mutation DNP CG TA rs1801265 uc001drv.2 DPYD_uc010oub.1... Hybrid_Cap...
EDN1 6 12290729 12290729 SKMEL3_SKIN 37 5'UTR Del A - uc003nae.3 EDN1_uc010jpb.2... Hybrid_Cap...
ERC1 p.E708Q 12 1292552 1292552 SKMEL3_SKIN 37 Missense_Mutation SNP G C rs61758142 uc001qjb.2 ERC1_uc001qiz.2... Hybrid_Cap... view
ETV1 7 14028708 14028708 SKMEL3_SKIN 37 5'UTR Del A - rs77190713 uc011jxq.1 ETV1_uc011jxn.1... Hybrid_Cap...
FGFR1OP 6 167453519 167453520 SKMEL3_SKIN 37 3'UTR Ins - T rs115519488 uc003qvj.2 CCR6_uc003qvl.2... Hybrid_Cap...
FGFR3 4 1809128 1809129 SKMEL3_SKIN 37 3'UTR Del GT - uc003gdu.2 FGFR3_uc003gdr.... Hybrid_Cap...
FLI1 11 128638217 128638217 SKMEL3_SKIN 37 Intron Del G - uc010sbu.1 FLI1_uc010sbt.1... Hybrid_Cap...
GPR112 p.D2657del X 135474445 135474447 SKMEL3_SKIN 37 In_Frame_Del Del GAT - rs3030295 uc004ezu.1 GPR112_uc010nsb... Hybrid_Cap...
GRIA3 X 122318386 122318387 SKMEL3_SKIN 37 Splice_Site_Ins Ins - G rs66632982 uc004etq.3 GRIA3_uc004etr.... Hybrid_Cap...
GUCY2C 12 14827464 14827466 SKMEL3_SKIN 37 Intron Del ATC - rs72525754;rs3083879 uc001rcd.2 GUCY2C_uc009zhz... Hybrid_Cap...
HIF1A 14 62213929 62213930 SKMEL3_SKIN 37 3'UTR Ins - T rs67890419 uc001xfs.2 HIF1A_uc001xfq.... Hybrid_Cap...
HIPK4 19 40895911 40895911 SKMEL3_SKIN 37 5'UTR SNP G A uc002onp.2 Hybrid_Cap... view
HNF1A 12 121434630 121434631 SKMEL3_SKIN 37 Intron Ins - TCATTCAT rs75100977 uc010szn.1 HNF1A_uc001tze.... Hybrid_Cap...
HSPA1B 6 31797769 31797770 SKMEL3_SKIN 37 3'UTR Ins - AAGTT rs67206812 uc003nxk.2 Hybrid_Cap...
ILK 11 6630029 6630029 SKMEL3_SKIN 37 Intron Del C - uc001mee.2 ILK_uc001mef.2_... Hybrid_Cap...
ITPR2 p.R470_splice 12 26834804 26834805 SKMEL3_SKIN 37 Splice_Site_Ins Ins - ACTC rs66696203;rs59199365 uc001rhg.2 Hybrid_Cap...
KLK7 19 51480672 51480675 SKMEL3_SKIN 37 3'UTR Del GGTT - uc002puo.2 KLK7_uc002pup.2... Hybrid_Cap...
LAMA1 p.I261V 18 7046354 7046354 SKMEL3_SKIN 37 Missense_Mutation SNP T C uc002knm.2 LAMA1_uc010wzj.... Hybrid_Cap... view
LRP1B p.D2393N 2 141356217 141356217 SKMEL3_SKIN 37 Missense_Mutation SNP C T uc002tvj.1 Hybrid_Cap... view
LRP6 12 12419728 12419728 SKMEL3_SKIN 37 5'UTR SNP G T uc001rah.3 LRP6_uc010shl.1... Hybrid_Cap... view
LRRK2 p.R2163G 12 40745446 40745446 SKMEL3_SKIN 37 Missense_Mutation SNP A G uc001rmg.3 LRRK2_uc009zjw.... Hybrid_Cap... view
MAK p.N252S 6 10802201 10802201 SKMEL3_SKIN 37 Missense_Mutation SNP T C uc003mzl.2 SYCP2L_uc011dim... Hybrid_Cap... view
MAML2 p.604_607QQQQ>Q 11 95825375 95825383 SKMEL3_SKIN 37 In_Frame_Del Del TGCTG... - rs113349418 uc001pfw.1 Hybrid_Cap...
MAML3 p.Q767_splice 4 140651585 140651587 SKMEL3_SKIN 37 Splice_Site_Del Del CTG - uc003ihz.1 MGST2_uc010ioi.... Hybrid_Cap...
MAP3K1 p.T949del 5 56177849 56177851 SKMEL3_SKIN 37 In_Frame_Del Del CAA - uc003jqw.3 Hybrid_Cap...
MAP3K4 p.E514G 6 161470845 161470845 SKMEL3_SKIN 37 Missense_Mutation SNP A G uc003qtn.2 MAP3K4_uc010kkc... Hybrid_Cap... view
MAP3K5 6 136878751 136878752 SKMEL3_SKIN 37 3'UTR Ins - T rs34705939;rs79903899 uc003qhc.2 MAP3K5_uc011edj... Hybrid_Cap...
MAP3K6 p.R961S 1 27684706 27684706 SKMEL3_SKIN 37 Missense_Mutation SNP G T uc001bny.1 MAP3K6_uc009vsw... Hybrid_Cap... view
MAPKAPK3 3 50685575 50685575 SKMEL3_SKIN 37 3'UTR Del A - rs76026164 uc003day.1 MAPKAPK3_uc003d... Hybrid_Cap...
MECOM p.S1213F 3 168802779 168802779 SKMEL3_SKIN 37 Missense_Mutation SNP G A uc011bpj.1 MECOM_uc010hwk.... Hybrid_Cap... view
MEN1 p.S577L 11 64571924 64571924 SKMEL3_SKIN 37 Missense_Mutation SNP G A uc001obj.2 MAP4K2_uc001obh... Hybrid_Cap... view
MSH3 p.PPA66del 5 79950742 79950750 SKMEL3_SKIN 37 In_Frame_Del Del CCCCC... - rs60484572;rs1047489 uc003kgz.2 DHFR_uc011ctl.1... Hybrid_Cap...
MST1R p.V1182M 3 49928730 49928730 SKMEL3_SKIN 37 Missense_Mutation SNP C T uc003cxy.3 MST1R_uc011bdc.... Hybrid_Cap... view
MYLK p.E1430_splice 3 123368043 123368044 SKMEL3_SKIN 37 Splice_Site_Ins Ins - G rs41431347 uc003ego.2 MYLK_uc010hrr.2... Hybrid_Cap...
NCAM1 11 112832307 112832308 SKMEL3_SKIN 37 5'UTR Ins - A rs117108942 uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCAM1 11 112832340 112832340 SKMEL3_SKIN 37 5'UTR Del C - uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NEK11 p.S485F 3 130947426 130947426 SKMEL3_SKIN 37 Missense_Mutation SNP C T uc003eny.2 NEK11_uc003eoa.... Hybrid_Cap... view
NFATC1 18 77287653 77287654 SKMEL3_SKIN 37 3'UTR Del AA - uc010xfg.1 NFATC1_uc002lnd... Hybrid_Cap...
NONO p.F113V X 70511811 70511811 SKMEL3_SKIN 37 Missense_Mutation SNP T G uc004dzo.2 BCYRN1_uc011mpt... Hybrid_Cap... view
NOTCH4 6 32170465 32170465 SKMEL3_SKIN 37 Intron Del G - uc003obb.2 NOTCH4_uc003oba... Hybrid_Cap...
NPM1 5 170837734 170837734 SKMEL3_SKIN 37 3'UTR Del T - uc011dex.1 NPM1_uc003mbi.2... Hybrid_Cap...
NR1H2 p.176_177insQ 19 50881820 50881821 SKMEL3_SKIN 37 In_Frame_Ins Ins - AAC rs66783852;rs112359270 uc010enw.2 NR1H2_uc002prv.... Hybrid_Cap...
NUAK2 p.L368P 1 205273362 205273362 SKMEL3_SKIN 37 Missense_Mutation SNP A G uc001hce.2 Hybrid_Cap... view
PAX3 2 223158653 223158653 SKMEL3_SKIN 37 Intron Del T - rs112753212 uc002vmt.1 PAX3_uc002vmy.1... Hybrid_Cap...
PAX5 9 37034095 37034095 SKMEL3_SKIN 37 5'UTR Del C - uc003zzo.1 PAX5_uc011lpw.1... Hybrid_Cap...
PDGFRA 4 55131002 55131003 SKMEL3_SKIN 37 Intron Del AA - uc003han.3 PDGFRA_uc003haa... Hybrid_Cap...
PDK1 p.A386T 2 173457702 173457702 SKMEL3_SKIN 37 Missense_Mutation SNP G A uc002uhq.1 PDK1_uc010zdz.1... Hybrid_Cap... view
PIK3C2A 11 17111198 17111199 SKMEL3_SKIN 37 3'UTR Del GT - uc001mmq.3 PIK3C2A_uc009yg... Hybrid_Cap...
PIK3C2G p.P129del 12 18435399 18435401 SKMEL3_SKIN 37 In_Frame_Del Del CCC - uc010sib.1 PIK3C2G_uc001rd... Hybrid_Cap...
PKHD1 p.D3266N 6 51612618 51612618 SKMEL3_SKIN 37 Missense_Mutation SNP C T uc003pah.1 PKHD1_uc010jzn.... Hybrid_Cap... view
PPM1E p.E520K 17 57057682 57057682 SKMEL3_SKIN 37 Missense_Mutation SNP G A uc002iwx.2 PPM1E_uc010ddd.... Hybrid_Cap... view
PRKDC p.L1244fs 8 48805816 48805817 SKMEL3_SKIN 37 Frame_Shift_Ins Ins - G rs67588121 uc003xqi.2 PRKDC_uc003xqj.... Hybrid_Cap...
RAPGEF2 4 160189197 160189198 SKMEL3_SKIN 37 5'UTR Ins - CC uc003iqg.3 Hybrid_Cap...
RIOK2 p.L455S 5 96503204 96503204 SKMEL3_SKIN 37 Missense_Mutation SNP A G uc003kmz.2 RIOK2_uc003kna.... Hybrid_Cap... view
RPS6KA5 14 91360733 91360734 SKMEL3_SKIN 37 Intron Ins - T rs77438853 uc001xys.2 RPS6KA5_uc010tw... Hybrid_Cap...
SORL1 p.R1243C 11 121456951 121456951 SKMEL3_SKIN 37 Missense_Mutation SNP C T uc001pxx.2 SORL1_uc010rzp.... Hybrid_Cap... view
SRPK3 p.P450S X 153049751 153049751 SKMEL3_SKIN 37 Missense_Mutation SNP C T uc004fik.2 SRPK3_uc010nul.... Hybrid_Cap... view
STK31 7 23872024 23872025 SKMEL3_SKIN 37 3'UTR Ins - TTTG rs66787534 uc003sws.3 STK31_uc003swt.... Hybrid_Cap...
STK33 p.A354_splice 11 8457571 8457572 SKMEL3_SKIN 37 Splice_Site_Ins Ins - A uc001mgi.1 STK33_uc001mgj.... Hybrid_Cap...
TCERG1L 10 132891367 132891367 SKMEL3_SKIN 37 3'UTR SNP C T uc001lkp.2 Hybrid_Cap... view
TCF12 p.R485Q 15 57545653 57545653 SKMEL3_SKIN 37 Missense_Mutation SNP G A uc002aea.2 TCF12_uc010ugm.... Hybrid_Cap... view
TLK1 2 171850178 171850179 SKMEL3_SKIN 37 3'UTR Ins - AA rs71008739 uc002ugo.2 TLK1_uc002ugn.2... Hybrid_Cap...
TLR7 p.N300T X 12904526 12904526 SKMEL3_SKIN 37 Missense_Mutation SNP A C uc004cvc.2 Hybrid_Cap... view
TMEM123 11 102269461 102269461 SKMEL3_SKIN 37 3'UTR Del G - uc001pha.2 TMEM123_uc009yx... Hybrid_Cap...
TNRC6B p.Q1328del 22 40697177 40697179 SKMEL3_SKIN 37 In_Frame_Del Del GCA - rs114291931 uc011aor.1 TNRC6B_uc003aym... Hybrid_Cap...
TP53 p.R267W 17 7577139 7577139 SKMEL3_SKIN 37 Missense_Mutation SNP G A rs55832599 uc002gim.2 TP53_uc002gig.1... Hybrid_Cap... view
TP63 p.R647C 3 189612187 189612187 SKMEL3_SKIN 37 Missense_Mutation SNP C T uc003fry.2 TP63_uc003frz.2... Hybrid_Cap... view
TRIB2 2 12858395 12858396 SKMEL3_SKIN 37 5'UTR Ins - G uc002rbv.3 TRIB2_uc010yjp.... Hybrid_Cap...
TRPS1 8 116635872 116635873 SKMEL3_SKIN 37 5'UTR Ins - A rs76893349 uc003yny.2 TRPS1_uc011lhy.... Hybrid_Cap...
TTBK1 p.E771del 6 43250726 43250728 SKMEL3_SKIN 37 In_Frame_Del Del GAA - uc003ouq.1 Hybrid_Cap...
TTN p.G20387A 2 179442198 179442198 SKMEL3_SKIN 37 Missense_Mutation SNP C G uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
UBR5 p.L892I 8 103317466 103317466 SKMEL3_SKIN 37 Missense_Mutation SNP G T uc003ykr.1 UBR5_uc003yks.1... Hybrid_Cap... view
USP6 p.R1198Q 17 5073849 5073849 SKMEL3_SKIN 37 Missense_Mutation SNP G A uc002gau.1 USP6_uc002gav.1... Hybrid_Cap... view
VEGFC p.S419_splice 4 177605082 177605084 SKMEL3_SKIN 37 Splice_Site_Del Del TCA - uc003ius.1 Hybrid_Cap...
VPS13B p.A2041V 8 100711753 100711753 SKMEL3_SKIN 37 Missense_Mutation SNP C T uc003yiv.2 VPS13B_uc003yiw... Hybrid_Cap... view
WNK2 p.P1423S 9 96051192 96051192 SKMEL3_SKIN 37 Missense_Mutation SNP C T rs41312202 uc004ati.1 WNK2_uc011lud.1... Hybrid_Cap... view