Annotation Summary for Cell Line: SK-MEL-28  

Cell line primary name: SK-MEL-28
Cell line aliases:
Gender: M
Site Primary: skin
Histology: malignant_melanoma
Hist Subtype1: NS
Notes:
Source: ATCC
Expression arrays: BITTS_p_NCLE_RNA12_HG-U133_Plus_2_A06_698750
SNP arrays: LIMPS_p_NCLE_DNA2N_GenomeWideSNP_6_B12_246656
Oncomap: yes
Hybrid Capture Sequencing: yes


Mutations in SK-MEL-28

GeneProtein
Change
ChrStartEnd SampleNCBI
Build
Variant
Classification
Variant TypeReference
Allele
Tumor
Allele 1
dbSNP IDAnnotation
Transcript
Other
Transcripts
Method View
Reads
Mutation
Assessor
ABCA3 p.P138L 16 2374439 2374439 SKMEL28_SKIN 37 Missense_Mutation SNP G A uc002cpy.1 ABCA3_uc010bsk.... Hybrid_Cap... view
ACACA 17 35766564 35766564 SKMEL28_SKIN 37 5'UTR Del A - uc002hno.2 ACACA_uc002hnn.... Hybrid_Cap...
ADAM28 8 24211994 24211997 SKMEL28_SKIN 37 3'UTR Del CTAT - rs10610134 uc003xdy.2 ADAM28_uc011laa... Hybrid_Cap...
ADAMTS19 p.D1084V 5 129040041 129040041 SKMEL28_SKIN 37 Missense_Mutation SNP A T uc003kvb.1 ADAMTS19_uc010j... Hybrid_Cap... view
AKAP12 p.1531_1532insE 6 151674116 151674117 SKMEL28_SKIN 37 In_Frame_Ins Ins - GAG rs34737819 uc011eep.1 AKAP12_uc003qoe... Hybrid_Cap...
ALDH7A1 5 125930919 125930919 SKMEL28_SKIN 37 5'UTR SNP A G uc003ktx.2 ALDH7A1_uc003kt... Hybrid_Cap... view
ALPK1 4 113347609 113347610 SKMEL28_SKIN 37 Intron Ins - T rs68137453 uc003iap.3 ALPK1_uc003ian.... Hybrid_Cap...
APC p.S130G 5 112103053 112103053 SKMEL28_SKIN 37 Missense_Mutation SNP A G uc010jby.2 APC_uc011cvt.1_... Hybrid_Cap... view
ARFGEF1 p.H256Y 8 68204232 68204232 SKMEL28_SKIN 37 Missense_Mutation SNP G A uc003xxo.1 Hybrid_Cap... view
ARID1A p.P1456L 1 27101085 27101085 SKMEL28_SKIN 37 Missense_Mutation SNP C T uc001bmv.1 ARID1A_uc001bmt... Hybrid_Cap... view
ASPH p.A264_splice 8 62550924 62550925 SKMEL28_SKIN 37 Splice_Site_Ins Ins - A rs5891816 uc003xuj.2 ASPH_uc011leg.1... Hybrid_Cap...
ATP11A 13 113536404 113536405 SKMEL28_SKIN 37 3'UTR Del TG - uc001vsj.3 ATP11A_uc001vsi... Hybrid_Cap...
AURKC 19 57742494 57742507 SKMEL28_SKIN 37 5'UTR Del GGACG... - rs67926438;rs112039303;rs59094959 uc002qoe.2 AURKC_uc002qoc.... Hybrid_Cap...
BCR 22 23631813 23631814 SKMEL28_SKIN 37 Intron Ins - C rs66503844 uc002zww.2 BCR_uc002zwx.2_... Hybrid_Cap...
BCR 22 23632777 23632778 SKMEL28_SKIN 37 Intron Ins - T uc002zww.2 BCR_uc002zwx.2_... Hybrid_Cap...
BLM p.T221I 15 91293160 91293160 SKMEL28_SKIN 37 Missense_Mutation SNP C T uc002bpr.2 BLM_uc010uqh.1_... Hybrid_Cap... view
BRAF p.V600E 7 140453136 140453136 SKMEL28_SKIN 37 Missense_Mutation SNP A T rs113488022 uc003vwc.3 Hybrid_Cap... view
CARS p.R96R 11 3063473 3063473 SKMEL28_SKIN 37 Silent SNP A C uc001lxf.2 CARS_uc001lxe.2... Hybrid_Cap... view
CDK4 p.R24C 12 58145431 58145431 SKMEL28_SKIN 37 Missense_Mutation SNP G A rs11547328 uc001spv.2 CDK4_uc010ssb.1... Hybrid_Cap... view
CDKN2C 1 51435977 51435977 SKMEL28_SKIN 37 Intron SNP C T uc001csf.2 CDKN2C_uc001csg... Hybrid_Cap... view
CEP110 9 123939569 123939569 SKMEL28_SKIN 37 3'UTR SNP T C uc004bkx.1 CEP110_uc004blb... Hybrid_Cap... view
CHEK2 p.E437K 22 29091777 29091777 SKMEL28_SKIN 37 Missense_Mutation SNP C T uc003adt.1 CHEK2_uc003ads.... Hybrid_Cap... view
CHEK2 22 29120751 29120751 SKMEL28_SKIN 37 Intron SNP T A uc003adt.1 CHEK2_uc003ads.... Hybrid_Cap... view
CLTCL1 p.V1201_splice 22 19189003 19189004 SKMEL28_SKIN 37 Splice_Site_Ins Ins - C rs11386977 uc002zpb.2 CLTCL1_uc011agv... Hybrid_Cap...
CLTCL1 p.P253S 22 19226836 19226836 SKMEL28_SKIN 37 Missense_Mutation SNP G A uc002zpb.2 CLTCL1_uc011agv... Hybrid_Cap... view
CNTN6 3 1339681 1339686 SKMEL28_SKIN 37 Intron Del GTTTT... - uc003boz.2 CNTN6_uc010hbo.... Hybrid_Cap...
CSMD3 p.S2119C 8 113358413 113358413 SKMEL28_SKIN 37 Missense_Mutation SNP T A uc003ynu.2 CSMD3_uc003yns.... Hybrid_Cap... view
DST p.E4564G 6 56362700 56362700 SKMEL28_SKIN 37 Missense_Mutation SNP T C uc003pdf.2 DST_uc003pcz.3_... Hybrid_Cap... view
DYRK1A 21 38884966 38884967 SKMEL28_SKIN 37 3'UTR Ins - T rs72430212 uc002ywk.2 DYRK1A_uc002ywi... Hybrid_Cap...
EDN1 6 12290729 12290729 SKMEL28_SKIN 37 5'UTR Del A - uc003nae.3 EDN1_uc010jpb.2... Hybrid_Cap...
EGFR p.P753S 7 55242487 55242487 SKMEL28_SKIN 37 Missense_Mutation SNP C T uc003tqk.2 EGFR_uc010kzg.1... Hybrid_Cap... view
EP300 22 41574970 41574972 SKMEL28_SKIN 37 3'UTR Del GTA - rs76489032 uc003azl.3 Hybrid_Cap...
EPHA6 3 97367230 97367231 SKMEL28_SKIN 37 Intron Ins - A rs115253553 uc010how.1 EPHA6_uc003drs.... Hybrid_Cap...
EPHA8 1 22928305 22928305 SKMEL28_SKIN 37 3'UTR SNP G T uc001bfx.1 Hybrid_Cap... view
FLI1 11 128638217 128638217 SKMEL28_SKIN 37 Intron Del G - uc010sbu.1 FLI1_uc010sbt.1... Hybrid_Cap...
FN1 2 216244182 216244185 SKMEL28_SKIN 37 Intron Del GTAC - uc002vfa.2 FN1_uc002vfb.2_... Hybrid_Cap...
GPR112 p.S53N X 135405024 135405024 SKMEL28_SKIN 37 Missense_Mutation SNP G A uc004ezu.1 GPR112_uc010nsb... Hybrid_Cap... view
GPR112 p.D2657del X 135474445 135474447 SKMEL28_SKIN 37 In_Frame_Del Del GAT - rs3030295 uc004ezu.1 GPR112_uc010nsb... Hybrid_Cap...
GRIA3 X 122318386 122318387 SKMEL28_SKIN 37 Splice_Site_Ins Ins - G rs66632982 uc004etq.3 GRIA3_uc004etr.... Hybrid_Cap...
GUCY2C 12 14827464 14827466 SKMEL28_SKIN 37 Intron Del ATC - rs72525754;rs3083879 uc001rcd.2 GUCY2C_uc009zhz... Hybrid_Cap...
HDAC1 p.K476Q 1 32798622 32798622 SKMEL28_SKIN 37 Missense_Mutation SNP A C uc001bvb.1 HDAC1_uc010ohf.... Hybrid_Cap... view
HEPH p.P159S X 65393484 65393484 SKMEL28_SKIN 37 Missense_Mutation SNP C T uc011moz.1 HEPH_uc004dwn.2... Hybrid_Cap... view
HIF1A 14 62213929 62213930 SKMEL28_SKIN 37 3'UTR Ins - T rs67890419 uc001xfs.2 HIF1A_uc001xfq.... Hybrid_Cap...
HNF1A 12 121434630 121434631 SKMEL28_SKIN 37 Intron Ins - TCATTCAT rs75100977 uc010szn.1 HNF1A_uc001tze.... Hybrid_Cap...
HNRNPA2B1 7 26240410 26240410 SKMEL28_SKIN 37 5'UTR SNP C T uc003sxr.3 HNRNPA2B1_uc003... Hybrid_Cap... view
ILK 11 6630029 6630029 SKMEL28_SKIN 37 Intron Del C - uc001mee.2 ILK_uc001mef.2_... Hybrid_Cap...
ITPR2 p.R470_splice 12 26834804 26834805 SKMEL28_SKIN 37 Splice_Site_Ins Ins - ACTC rs66696203;rs59199365 uc001rhg.2 Hybrid_Cap...
JAK2 p.E592K 9 5072624 5072624 SKMEL28_SKIN 37 Missense_Mutation SNP G A uc010mhm.2 JAK2_uc003ziw.2... Hybrid_Cap... view
JAK3 p.P693L 19 17945782 17945782 SKMEL28_SKIN 37 Missense_Mutation SNP G A uc002nhn.3 JAK3_uc010ebh.2... Hybrid_Cap... view
KIAA1409 p.P435L 14 94038319 94038319 SKMEL28_SKIN 37 Missense_Mutation SNP C T uc001ybv.1 KIAA1409_uc001y... Hybrid_Cap... view
KLK7 19 51480672 51480675 SKMEL28_SKIN 37 3'UTR Del GGTT - uc002puo.2 KLK7_uc002pup.2... Hybrid_Cap...
LRP1B p.R2161* 2 141458137 141458137 SKMEL28_SKIN 37 Nonsense_Mutation SNP G A uc002tvj.1 Hybrid_Cap... view
LRP2 p.T2086S 2 170068502 170068502 SKMEL28_SKIN 37 Missense_Mutation SNP T A uc002ues.2 Hybrid_Cap... view
MAF 16 79628537 79628537 SKMEL28_SKIN 37 Intron Del T - uc002ffm.2 MAF_uc002ffn.2_... Hybrid_Cap...
MAML3 p.Q767_splice 4 140651585 140651587 SKMEL28_SKIN 37 Splice_Site_Del Del CTG - uc003ihz.1 MGST2_uc010ioi.... Hybrid_Cap...
MAP3K1 p.T949del 5 56177849 56177851 SKMEL28_SKIN 37 In_Frame_Del Del CAA - uc003jqw.3 Hybrid_Cap...
MAPK14 6 36076345 36076354 SKMEL28_SKIN 37 3'UTR Del GTGTG... - rs80147786 uc003olp.2 MAPK14_uc003olq... Hybrid_Cap...
MAPKAPK3 3 50685575 50685575 SKMEL28_SKIN 37 3'UTR Del A - rs76026164 uc003day.1 MAPKAPK3_uc003d... Hybrid_Cap...
MAPKBP1 15 42111746 42111746 SKMEL28_SKIN 37 Intron Del G - uc001zok.3 MAPKBP1_uc001zo... Hybrid_Cap...
MOS p.S194L 8 57025961 57025961 SKMEL28_SKIN 37 Missense_Mutation SNP G A uc011leb.1 Hybrid_Cap... view
MPPED2 p.R229S 11 30435854 30435854 SKMEL28_SKIN 37 Missense_Mutation SNP T A uc001msr.2 MPPED2_uc001msq... Hybrid_Cap... view
MYH11 p.E1203K 16 15826486 15826486 SKMEL28_SKIN 37 Missense_Mutation SNP C T uc002ddx.2 MYH11_uc002ddv.... Hybrid_Cap... view
NAV3 p.A239fs 12 78388627 78388630 SKMEL28_SKIN 37 Frame_Shift_Del Del CAAC - uc001syp.2 NAV3_uc001syo.2... Hybrid_Cap...
NCAM1 11 112832307 112832308 SKMEL28_SKIN 37 5'UTR Ins - A rs117108942 uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCAM1 11 112832340 112832340 SKMEL28_SKIN 37 5'UTR Del C - uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NEK3 p.K313_splice 13 52718050 52718051 SKMEL28_SKIN 37 Splice_Site_Ins Ins - T rs72514762 uc001vgh.2 NEK3_uc001vgg.2... Hybrid_Cap...
NEK9 p.R142H 14 75587850 75587850 SKMEL28_SKIN 37 Missense_Mutation SNP C T uc001xrl.2 Hybrid_Cap... view
NLRP3 p.D305N 1 247587658 247587658 SKMEL28_SKIN 37 Missense_Mutation SNP G A rs121908153 uc001icr.2 NLRP3_uc001ics.... Hybrid_Cap... view
NR1H2 p.176_177insQ 19 50881820 50881821 SKMEL28_SKIN 37 In_Frame_Ins Ins - AAC rs66783852;rs112359270 uc010enw.2 NR1H2_uc002prv.... Hybrid_Cap...
NR1H2 p.176_177insQ 19 50881822 50881823 SKMEL28_SKIN 37 In_Frame_Ins Ins - CAG rs61751954;rs1052533 uc010enw.2 NR1H2_uc002prv.... Hybrid_Cap...
NRK p.G1029R X 105168796 105168796 SKMEL28_SKIN 37 Missense_Mutation SNP G A uc004emd.2 NRK_uc010npc.1_... Hybrid_Cap... view
NUP210 p.L621P 3 13407516 13407516 SKMEL28_SKIN 37 Missense_Mutation SNP A G uc003bxv.1 NUP210_uc003bxx... Hybrid_Cap... view
OBSCN p.E4661A 1 228505725 228505725 SKMEL28_SKIN 37 Missense_Mutation SNP A C uc009xez.1 OBSCN_uc001hsn.... Hybrid_Cap... view
P2RX7 p.T205_splice 12 121603241 121603241 SKMEL28_SKIN 37 Splice_Site_SNP SNP G A uc001tzm.2 P2RX7_uc001tzn.... Hybrid_Cap... view
PAK7 p.D88N 20 9561520 9561520 SKMEL28_SKIN 37 Missense_Mutation SNP C T uc002wnl.2 PAK7_uc002wnk.2... Hybrid_Cap... view
PAX3 2 223066017 223066018 SKMEL28_SKIN 37 Intron Ins - C rs115619343 uc002vmt.1 PAX3_uc002vmy.1... Hybrid_Cap...
PDE4DIP p.Q1665fs 1 144873963 144873963 SKMEL28_SKIN 37 Frame_Shift_Del Del T - uc001elw.3 NBPF10_uc009wir... Hybrid_Cap...
PDE4DIP p.L601fs 1 144915624 144915624 SKMEL28_SKIN 37 Frame_Shift_Del Del G - rs1778112 uc001elw.3 NBPF10_uc009wir... Hybrid_Cap...
PDE4DIP p.E243fs 1 144923729 144923729 SKMEL28_SKIN 37 Frame_Shift_Del Del T - uc001elw.3 NBPF10_uc009wir... Hybrid_Cap...
PDZRN4 p.S188I 12 41903672 41903672 SKMEL28_SKIN 37 Missense_Mutation SNP G T uc010skn.1 PDZRN4_uc001rmq... Hybrid_Cap... view
PIK3C2B 1 204423610 204423610 SKMEL28_SKIN 37 Intron Del A - uc001haw.2 PIK3C2B_uc010pq... Hybrid_Cap...
PIK3C2G 12 18800990 18800990 SKMEL28_SKIN 37 3'UTR Del A - rs16914368 uc010sib.1 PIK3C2G_uc001rd... Hybrid_Cap...
PKN2 1 89271763 89271763 SKMEL28_SKIN 37 Intron SNP T G uc001dmn.2 PKN2_uc001dmm.1... Hybrid_Cap... view
PRKCA 17 64298959 64298960 SKMEL28_SKIN 37 5'UTR Ins - G rs71160558 uc002jfp.1 PRKCA_uc002jfo.... Hybrid_Cap...
PRKDC p.L1244fs 8 48805816 48805817 SKMEL28_SKIN 37 Frame_Shift_Ins Ins - G rs67588121 uc003xqi.2 PRKDC_uc003xqj.... Hybrid_Cap...
PTEN p.T167A 10 89711881 89711881 SKMEL28_SKIN 37 Missense_Mutation SNP A G uc001kfb.2 Hybrid_Cap... view
PTPRU 1 29652275 29652275 SKMEL28_SKIN 37 3'UTR SNP C T uc001bru.2 PTPRU_uc001brv.... Hybrid_Cap... view
RECQL4 p.R766fs 8 145738768 145738768 SKMEL28_SKIN 37 Frame_Shift_Del Del G - uc003zdj.2 Hybrid_Cap...
RPS6KA5 14 91360733 91360734 SKMEL28_SKIN 37 Intron Ins - T rs77438853 uc001xys.2 RPS6KA5_uc010tw... Hybrid_Cap...
SACS p.F2678L 13 23909981 23909981 SKMEL28_SKIN 37 Missense_Mutation SNP G C uc001uon.2 SACS_uc001uoo.2... Hybrid_Cap... view
SEPT9 17 75494787 75494788 SKMEL28_SKIN 37 3'UTR Ins - C rs5822173 uc002jts.3 SEPT9_uc010wtk.... Hybrid_Cap...
SNRK p.G271E 3 43381859 43381859 SKMEL28_SKIN 37 Missense_Mutation SNP G A uc003cms.3 SNRK_uc003cmt.3... Hybrid_Cap... view
STK25 2 242435659 242435662 SKMEL28_SKIN 37 Intron Del AAGG - rs3215138;rs75497042 uc002wbm.2 STK25_uc002wbk.... Hybrid_Cap...
STK31 7 23872024 23872025 SKMEL28_SKIN 37 3'UTR Ins - TTTG rs66787534 uc003sws.3 STK31_uc003swt.... Hybrid_Cap...
TLK1 2 171850178 171850179 SKMEL28_SKIN 37 3'UTR Ins - AA rs71008739 uc002ugo.2 TLK1_uc002ugn.2... Hybrid_Cap...
TNFRSF1B 1 12267184 12267184 SKMEL28_SKIN 37 3'UTR SNP G C uc001att.2 TNFRSF1B_uc001a... Hybrid_Cap... view
TP53 p.L145R 17 7578495 7578496 SKMEL28_SKIN 37 Missense_Mutation DNP CA AC uc002gim.2 TP53_uc002gig.1... Hybrid_Cap...
TRAF2 9 139793173 139793173 SKMEL28_SKIN 37 5'UTR SNP T G uc010nbu.2 TRAF2_uc010nbv.... Hybrid_Cap... view
TSC1 p.1043_1044insS 9 135771987 135771988 SKMEL28_SKIN 37 In_Frame_Ins Ins - GCT uc004cca.2 TSC1_uc004ccb.3... Hybrid_Cap...
TTN p.E32971K 2 179393863 179393863 SKMEL28_SKIN 37 Missense_Mutation SNP C T uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
TTN p.P18386L 2 179453591 179453591 SKMEL28_SKIN 37 Missense_Mutation SNP G A uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
TTN p.G4811R 2 179594964 179594964 SKMEL28_SKIN 37 Missense_Mutation SNP C T uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
TTN 2 179604474 179604474 SKMEL28_SKIN 37 Intron SNP G A uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
VEGFC p.S419_splice 4 177605082 177605084 SKMEL28_SKIN 37 Splice_Site_Del Del TCA - uc003ius.1 Hybrid_Cap...