Annotation Summary for Cell Line: SK-MEL-24  

Cell line primary name: SK-MEL-24
Cell line aliases:
Gender: M
Site Primary: skin
Histology: malignant_melanoma
Hist Subtype1: NS
Notes:
Source: ATCC
Expression arrays: METIS_p_NCLE_RNA1_Human_U133_Plus_2.0_C11_240918
SNP arrays: ARLES_p_NCLE_DNAAffy2_S_GenomeWideSNP_6_A09_256018
Oncomap: yes
Hybrid Capture Sequencing: yes


Mutations in SK-MEL-24

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 SKMEL24_SKIN 37 In_Frame_Del Del TGT - rs55712143 uc002sfp.2 AAK1_uc010fdk.2... Hybrid_Cap...
ADAM17 2 9630245 9630245 SKMEL24_SKIN 37 3'UTR Del T - uc002qzu.2 IAH1_uc010yiz.1... Hybrid_Cap...
ADAM28 8 24211994 24211997 SKMEL24_SKIN 37 3'UTR Del CTAT - rs10610134 uc003xdy.2 ADAM28_uc011laa... Hybrid_Cap...
ADCK1 p.T172M 14 78353525 78353525 SKMEL24_SKIN 37 Missense_Mutation SNP C T uc001xui.2 ADCK1_uc010tvo.... Hybrid_Cap... view
ADCK2 p.W343* 7 140374506 140374506 SKMEL24_SKIN 37 Nonsense_Mutation SNP G A uc003vvy.1 ADCK2_uc003vvz.... Hybrid_Cap... view
AIFM3 p.E69G 22 21327770 21327770 SKMEL24_SKIN 37 Missense_Mutation SNP A G uc002ztj.2 AIFM3_uc002ztk.... Hybrid_Cap... view
AKAP12 p.F810C 6 151671955 151671955 SKMEL24_SKIN 37 Missense_Mutation SNP T G uc011eep.1 AKAP12_uc003qoe... Hybrid_Cap... view
AKAP12 p.1531_1532insE 6 151674116 151674117 SKMEL24_SKIN 37 In_Frame_Ins Ins - GAG rs34737819 uc011eep.1 AKAP12_uc003qoe... Hybrid_Cap...
AKAP9 p.1335_1336insQ 7 91652178 91652179 SKMEL24_SKIN 37 In_Frame_Ins Ins - AAC rs34756483 uc003ulg.2 AKAP9_uc003ule.... Hybrid_Cap...
BCAR1 p.P682F 16 75268890 75268891 SKMEL24_SKIN 37 Missense_Mutation DNP GG AA uc010vnb.1 BCAR1_uc002fdt.... Hybrid_Cap...
BCL11A 2 60687400 60687401 SKMEL24_SKIN 37 3'UTR Ins - TGTT rs34355930 uc002sae.1 BCL11A_uc002sab... Hybrid_Cap...
BRAF p.V600E 7 140453136 140453136 SKMEL24_SKIN 37 Missense_Mutation SNP A T rs113488022 uc003vwc.3 Hybrid_Cap... view
C15ORF2 p.G1017V 15 24924064 24924064 SKMEL24_SKIN 37 Missense_Mutation SNP G T uc001ywo.2 Hybrid_Cap... view
CACNA1F p.E3K X 49089765 49089766 SKMEL24_SKIN 37 Missense_Mutation DNP CC TT uc004dnb.2 CACNA1F_uc010ni... Hybrid_Cap...
CACNB2 10 18828721 18828722 SKMEL24_SKIN 37 3'UTR Ins - AA rs3841459 uc001ipr.2 CACNB2_uc009xjz... Hybrid_Cap...
CAMK1 p.G329E 3 9799457 9799457 SKMEL24_SKIN 37 Missense_Mutation SNP C T uc003bst.2 OGG1_uc003bsk.2... Hybrid_Cap... view
CARS p.S44S 11 3069125 3069125 SKMEL24_SKIN 37 Silent SNP G A uc001lxf.2 CARS_uc001lxe.2... Hybrid_Cap... view
CCDC50 p.P239F 3 191093117 191093118 SKMEL24_SKIN 37 Missense_Mutation DNP CC TT uc003fsv.2 CCDC50_uc003fsw... Hybrid_Cap...
CHEK1 p.R453* 11 125525141 125525141 SKMEL24_SKIN 37 Nonsense_Mutation SNP A T uc009zbo.2 CHEK1_uc010sbh.... Hybrid_Cap... view
CLTCL1 p.V1201_splice 22 19189003 19189004 SKMEL24_SKIN 37 Splice_Site_Ins Ins - C rs11386977 uc002zpb.2 CLTCL1_uc011agv... Hybrid_Cap...
CNTN6 3 1339681 1339686 SKMEL24_SKIN 37 Intron Del GTTTT... - uc003boz.2 CNTN6_uc010hbo.... Hybrid_Cap...
CNTN6 p.W348* 3 1367596 1367596 SKMEL24_SKIN 37 Nonsense_Mutation SNP G A uc003boz.2 CNTN6_uc011asj.... Hybrid_Cap... view
CSMD3 p.G1039V 8 113662467 113662467 SKMEL24_SKIN 37 Missense_Mutation SNP C A uc003ynu.2 CSMD3_uc003yns.... Hybrid_Cap... view
CSMD3 p.N332S 8 114031331 114031331 SKMEL24_SKIN 37 Missense_Mutation SNP T C uc003ynu.2 CSMD3_uc003ynt.... Hybrid_Cap... view
DACH1 p.E204K 13 72440292 72440292 SKMEL24_SKIN 37 Missense_Mutation SNP C T uc010thn.1 DACH1_uc010tho.... Hybrid_Cap... view
DYRK1A 21 38884966 38884967 SKMEL24_SKIN 37 3'UTR Ins - T rs72430212 uc002ywk.2 DYRK1A_uc002ywi... Hybrid_Cap...
EDN1 6 12296150 12296151 SKMEL24_SKIN 37 Intron Ins - T rs66570617 uc003nae.3 EDN1_uc003nad.2... Hybrid_Cap...
EIF4G1 p.S262L 3 184039136 184039136 SKMEL24_SKIN 37 Missense_Mutation SNP C T uc010hxx.2 EIF4G1_uc003fno... Hybrid_Cap... view
EPHA5 4 66197604 66197604 SKMEL24_SKIN 37 Intron SNP T C uc011cah.1 EPHA5_uc003hcx.... Hybrid_Cap... view
EPHA6 3 97467610 97467611 SKMEL24_SKIN 37 3'UTR Ins - CT uc010how.1 Hybrid_Cap...
EPS15 1 51822219 51822220 SKMEL24_SKIN 37 3'UTR Ins - A rs111272942 uc001csq.1 EPS15_uc009vyz.... Hybrid_Cap...
ERCC6 p.E495K 10 50713973 50713973 SKMEL24_SKIN 37 Missense_Mutation SNP C T uc001jhs.3 ERCC6_uc001jhr.... Hybrid_Cap... view
ESR2 p.N181del 14 64735622 64735624 SKMEL24_SKIN 37 In_Frame_Del Del ATT - uc001xha.1 ESR2_uc001xgu.2... Hybrid_Cap...
FBN2 5 127595046 127595048 SKMEL24_SKIN 37 3'UTR Del TTA - uc003kuu.2 Hybrid_Cap...
FLT4 p.A601T 5 180048761 180048761 SKMEL24_SKIN 37 Missense_Mutation SNP C T uc003mlz.3 FLT4_uc003mma.3... Hybrid_Cap... view
FN1 2 216244182 216244185 SKMEL24_SKIN 37 Intron Del GTAC - uc002vfa.2 FN1_uc002vfb.2_... Hybrid_Cap...
FZD1 p.93_94insP 7 90894459 90894460 SKMEL24_SKIN 37 In_Frame_Ins Ins - CCG uc003ula.2 Hybrid_Cap...
GRIA3 X 122318386 122318387 SKMEL24_SKIN 37 Splice_Site_Ins Ins - G rs66632982 uc004etq.3 GRIA3_uc004etr.... Hybrid_Cap...
GUCY2C 12 14827464 14827466 SKMEL24_SKIN 37 Intron Del ATC - rs72525754;rs3083879 uc001rcd.2 GUCY2C_uc009zhz... Hybrid_Cap...
HEPH p.F1028Y X 65479979 65479979 SKMEL24_SKIN 37 Missense_Mutation SNP T A uc011moz.1 HEPH_uc004dwn.2... Hybrid_Cap... view
IFNB1 p.S21F 9 21077807 21077807 SKMEL24_SKIN 37 Missense_Mutation SNP G A uc003zok.2 Hybrid_Cap... view
ILK 11 6630029 6630029 SKMEL24_SKIN 37 Intron Del C - uc001mee.2 ILK_uc001mef.2_... Hybrid_Cap...
ITPR2 p.R470_splice 12 26834804 26834805 SKMEL24_SKIN 37 Splice_Site_Ins Ins - ACTC rs66696203;rs59199365 uc001rhg.2 Hybrid_Cap...
KIAA1549 p.I1528L 7 138554477 138554477 SKMEL24_SKIN 37 Missense_Mutation SNP T G uc011kql.1 KIAA1549_uc011k... Hybrid_Cap... view
KLK7 19 51480672 51480675 SKMEL24_SKIN 37 3'UTR Del GGTT - uc002puo.2 KLK7_uc002pup.2... Hybrid_Cap...
LIFR p.G356E 5 38506659 38506659 SKMEL24_SKIN 37 Missense_Mutation SNP C T uc010ive.1 LIFR_uc003jli.2... Hybrid_Cap... view
LRP1B p.D3061N 2 141245248 141245248 SKMEL24_SKIN 37 Missense_Mutation SNP C T uc002tvj.1 Hybrid_Cap... view
LRP1B p.S1582F 2 141607865 141607865 SKMEL24_SKIN 37 Missense_Mutation SNP G A uc002tvj.1 LRP1B_uc010fnl.... Hybrid_Cap... view
LRP1B p.G401E 2 141819654 141819654 SKMEL24_SKIN 37 Missense_Mutation SNP C T uc002tvj.1 LRP1B_uc010fnl.... Hybrid_Cap... view
MAF 16 79628537 79628537 SKMEL24_SKIN 37 Intron Del T - uc002ffm.2 MAF_uc002ffn.2_... Hybrid_Cap...
MAML3 p.Q767_splice 4 140651585 140651587 SKMEL24_SKIN 37 Splice_Site_Del Del CTG - uc003ihz.1 MGST2_uc010ioi.... Hybrid_Cap...
MAP3K1 p.T949del 5 56177849 56177851 SKMEL24_SKIN 37 In_Frame_Del Del CAA - uc003jqw.3 Hybrid_Cap...
MAP3K14 p.R218_splice 17 43364293 43364294 SKMEL24_SKIN 37 Splice_Site_Ins Ins - G rs66766023 uc002iiw.1 MAP3K14_uc010da... Hybrid_Cap...
MAP3K5 p.G170E 6 137041667 137041667 SKMEL24_SKIN 37 Missense_Mutation SNP C T uc003qhc.2 MAP3K5_uc011edk... Hybrid_Cap... view
MAP3K9 p.P745S 14 71199895 71199895 SKMEL24_SKIN 37 Missense_Mutation SNP G A uc001xml.2 MAP3K9_uc010ttk... Hybrid_Cap... view
MAPKAPK3 3 50685575 50685575 SKMEL24_SKIN 37 3'UTR Del A - rs76026164 uc003day.1 MAPKAPK3_uc003d... Hybrid_Cap...
MAST4 p.V589A 5 66430457 66430457 SKMEL24_SKIN 37 Missense_Mutation SNP T C uc003jut.1 MAST4_uc003juu.... Hybrid_Cap... view
MERTK p.I162L 2 112702538 112702538 SKMEL24_SKIN 37 Missense_Mutation SNP A T uc002thk.1 MERTK_uc002thl.... Hybrid_Cap... view
MYH9 p.H601Y 22 36705369 36705369 SKMEL24_SKIN 37 Missense_Mutation SNP G A uc003apg.2 MYH9_uc003aph.1... Hybrid_Cap... view
NCAM1 11 112832307 112832308 SKMEL24_SKIN 37 5'UTR Ins - A rs117108942 uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCAM1 11 112832340 112832340 SKMEL24_SKIN 37 5'UTR Del C - uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCOA3 p.Q1276del 20 46279837 46279839 SKMEL24_SKIN 37 In_Frame_Del Del CAG - rs2664555 uc002xtk.2 NCOA3_uc010ght.... Hybrid_Cap...
NEK3 p.K313_splice 13 52718050 52718051 SKMEL24_SKIN 37 Splice_Site_Ins Ins - T rs72514762 uc001vgh.2 NEK3_uc001vgg.2... Hybrid_Cap...
NFIA 1 61921185 61921186 SKMEL24_SKIN 37 3'UTR Ins - T rs57270124;rs76131997 uc010oos.1 NFIA_uc001czy.2... Hybrid_Cap...
NFKBIA p.P281fs 14 35871662 35871663 SKMEL24_SKIN 37 Frame_Shift_Ins Ins - T uc001wtf.3 NFKBIA_uc001wte... Hybrid_Cap...
NIPBL p.L1840F 5 37022436 37022436 SKMEL24_SKIN 37 Missense_Mutation SNP C T uc003jkl.3 NIPBL_uc003jkk.... Hybrid_Cap... view
NOTCH4 p.15_16LL>L 6 32191659 32191661 SKMEL24_SKIN 37 In_Frame_Del Del AGC - uc003obb.2 NOTCH4_uc011dpu... Hybrid_Cap...
NPR1 1 153665919 153665920 SKMEL24_SKIN 37 3'UTR Ins - C rs66682713 uc001fcs.3 NPR1_uc010pdz.1... Hybrid_Cap...
NR1H2 p.176_177insQ 19 50881822 50881823 SKMEL24_SKIN 37 In_Frame_Ins Ins - CAG rs61751954;rs1052533 uc010enw.2 NR1H2_uc002prv.... Hybrid_Cap...
OBSCN 1 228547523 228547523 SKMEL24_SKIN 37 Intron SNP C T uc009xez.1 OBSCN_uc001hsn.... Hybrid_Cap... view
PARP1 p.P850L 1 226552812 226552812 SKMEL24_SKIN 37 Missense_Mutation SNP G A uc001hqd.3 Hybrid_Cap... view
PAX5 9 37034095 37034095 SKMEL24_SKIN 37 5'UTR Del C - uc003zzo.1 PAX5_uc011lpw.1... Hybrid_Cap...
PGR 11 100933598 100933599 SKMEL24_SKIN 37 Intron Ins - AATGA rs35148438 uc001pgh.2 PGR_uc001pgg.2_... Hybrid_Cap...
PIK3C2A p.A518T 11 17169072 17169072 SKMEL24_SKIN 37 Missense_Mutation SNP C T uc001mmq.3 PIK3C2A_uc009yg... Hybrid_Cap... view
PIK3C2A p.W457C 11 17170291 17170291 SKMEL24_SKIN 37 Missense_Mutation SNP C A uc001mmq.3 PIK3C2A_uc009yg... Hybrid_Cap... view
PIK3C2G p.P129del 12 18435399 18435401 SKMEL24_SKIN 37 In_Frame_Del Del CCC - uc010sib.1 PIK3C2G_uc001rd... Hybrid_Cap...
PRDM16 p.P531L 1 3328353 3328353 SKMEL24_SKIN 37 Missense_Mutation SNP C T uc001akf.2 PRDM16_uc001akc... Hybrid_Cap... view
PRKAR1B p.M47L 7 751004 751004 SKMEL24_SKIN 37 Missense_Mutation SNP T A uc003siu.1 PRKAR1B_uc003si... Hybrid_Cap... view
PRKCI p.S46F 3 169953053 169953054 SKMEL24_SKIN 37 Missense_Mutation DNP CC TT uc003fgs.2 Hybrid_Cap...
PRKDC p.Q3133H 8 48732009 48732009 SKMEL24_SKIN 37 Missense_Mutation SNP C A uc003xqi.2 PRKDC_uc003xqj.... Hybrid_Cap... view
PRKDC p.L1244fs 8 48805816 48805817 SKMEL24_SKIN 37 Frame_Shift_Ins Ins - G rs67588121 uc003xqi.2 PRKDC_uc003xqj.... Hybrid_Cap...
RIMS2 p.V371L 8 104924365 104924365 SKMEL24_SKIN 37 Missense_Mutation SNP G C uc003yls.2 RIMS2_uc003ylp.... Hybrid_Cap... view
RPGRIP1 p.D946N 14 21795907 21795907 SKMEL24_SKIN 37 Missense_Mutation SNP G A uc001wag.2 RPGRIP1_uc001wa... Hybrid_Cap... view
RPS6KA5 14 91360733 91360734 SKMEL24_SKIN 37 Intron Ins - T rs77438853 uc001xys.2 RPS6KA5_uc010tw... Hybrid_Cap...
RPS6KL1 14 75373626 75373627 SKMEL24_SKIN 37 3'UTR Ins - TGAT uc001xqx.1 RPS6KL1_uc001xq... Hybrid_Cap...
SERPINB4 p.S389F 18 61304960 61304960 SKMEL24_SKIN 37 Missense_Mutation SNP G A uc002ljf.2 SERPINB4_uc002l... Hybrid_Cap... view
SLCO4A1 p.E200G 20 61288405 61288405 SKMEL24_SKIN 37 Missense_Mutation SNP A G uc002ydb.1 SLCO4A1_uc002yd... Hybrid_Cap... view
SPEG p.P2165S 2 220348678 220348678 SKMEL24_SKIN 37 Missense_Mutation SNP C T uc010fwg.2 Hybrid_Cap... view
SS18 18 23598232 23598232 SKMEL24_SKIN 37 3'UTR SNP G T uc002kvm.2 SS18_uc002kvn.2... Hybrid_Cap... view
TAF1 p.S650F X 70602956 70602956 SKMEL24_SKIN 37 Missense_Mutation SNP C T uc004dzt.3 BCYRN1_uc011mpt... Hybrid_Cap... view
TLK1 2 171850178 171850179 SKMEL24_SKIN 37 3'UTR Ins - AA rs71008739 uc002ugo.2 TLK1_uc002ugn.2... Hybrid_Cap...
TLK1 p.P112Q 2 171917662 171917662 SKMEL24_SKIN 37 Missense_Mutation SNP G T uc002ugo.2 TLK1_uc002ugn.2... Hybrid_Cap... view
TMEM123 11 102269398 102269398 SKMEL24_SKIN 37 3'UTR Del G - uc001pha.2 TMEM123_uc009yx... Hybrid_Cap...
TMEM74 8 109796362 109796362 SKMEL24_SKIN 37 3'UTR SNP C T uc003ymy.1 TMEM74_uc003ymx... Hybrid_Cap... view
TRIM33 1 114940215 114940216 SKMEL24_SKIN 37 3'UTR Ins - G rs68133208 uc001eew.2 TRIM33_uc010owr... Hybrid_Cap...
TRIM33 p.R865* 1 114948207 114948207 SKMEL24_SKIN 37 Nonsense_Mutation SNP G A uc001eew.2 TRIM33_uc010owr... Hybrid_Cap... view
TRPS1 8 116635872 116635873 SKMEL24_SKIN 37 5'UTR Ins - A rs76893349 uc003yny.2 TRPS1_uc011lhy.... Hybrid_Cap...
TTBK1 p.P727L 6 43250658 43250658 SKMEL24_SKIN 37 Missense_Mutation SNP C T uc003ouq.1 Hybrid_Cap... view
TTBK1 p.E771del 6 43250726 43250728 SKMEL24_SKIN 37 In_Frame_Del Del GAA - uc003ouq.1 Hybrid_Cap...
TTN 2 179391639 179391640 SKMEL24_SKIN 37 3'UTR Ins - T rs36037175 uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap...
TTN p.P21255S 2 179439392 179439392 SKMEL24_SKIN 37 Missense_Mutation SNP G A uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
TTN p.G13554E 2 179480463 179480463 SKMEL24_SKIN 37 Missense_Mutation SNP C T uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
TTN p.I4687N 2 179595468 179595468 SKMEL24_SKIN 37 Missense_Mutation SNP A T uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
TTN p.E2892K 2 179634634 179634634 SKMEL24_SKIN 37 Missense_Mutation SNP C T uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
VCPIP1 p.Q1154H 8 67546943 67546943 SKMEL24_SKIN 37 Missense_Mutation SNP C G uc003xwn.2 Hybrid_Cap... view
VEGFA 6 43752519 43752519 SKMEL24_SKIN 37 3'UTR SNP G A uc003owh.2 VEGFA_uc003owd.... Hybrid_Cap... view
VEGFC p.S419_splice 4 177605082 177605084 SKMEL24_SKIN 37 Splice_Site_Del Del TCA - uc003ius.1 Hybrid_Cap...
ZAK 2 174074700 174074700 SKMEL24_SKIN 37 Intron SNP T A uc002uhz.2 ZAK_uc002uhx.2_... Hybrid_Cap... view