Annotation Summary for Cell Line: UACC-257  

Cell line primary name: UACC-257
Cell line aliases:
Gender:
Site Primary: skin
Histology: malignant_melanoma
Hist Subtype1: NS
Notes:
Source: NCI/DCTD
Expression arrays: PARES_p_NCLE_RNA_Redo_HG-U133_Plus_2_E01_257694
SNP arrays: LIMPS_p_NCLE_DNA2N_GenomeWideSNP_6_H08_246792
Oncomap: yes
Hybrid Capture Sequencing: yes


Mutations in UACC-257

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 UACC257_SKIN 37 In_Frame_Del Del TGT - rs55712143 uc002sfp.2 AAK1_uc010fdk.2... Hybrid_Cap...
ACACA 17 35766564 35766564 UACC257_SKIN 37 5'UTR Del A - uc002hno.2 ACACA_uc002hnn.... Hybrid_Cap...
ADAM17 2 9630245 9630245 UACC257_SKIN 37 3'UTR Del T - uc002qzu.2 IAH1_uc010yiz.1... Hybrid_Cap...
ADAM28 8 24211994 24211997 UACC257_SKIN 37 3'UTR Del CTAT - rs10610134 uc003xdy.2 ADAM28_uc011laa... Hybrid_Cap...
AKAP12 p.1531_1532insE 6 151674116 151674117 UACC257_SKIN 37 In_Frame_Ins Ins - GAG rs34737819 uc011eep.1 AKAP12_uc003qoe... Hybrid_Cap...
AKAP9 p.1335_1336insQ 7 91652178 91652179 UACC257_SKIN 37 In_Frame_Ins Ins - AAC rs34756483 uc003ulg.2 AKAP9_uc003ule.... Hybrid_Cap...
ALS2 p.L760fs 2 202606468 202606468 UACC257_SKIN 37 Frame_Shift_Del Del A - uc002uyo.2 ALS2_uc002uyp.3... Hybrid_Cap...
ASPH p.A264_splice 8 62550924 62550925 UACC257_SKIN 37 Splice_Site_Ins Ins - A rs5891816 uc003xuj.2 ASPH_uc011leg.1... Hybrid_Cap...
BRAF p.V600E 7 140453136 140453136 UACC257_SKIN 37 Missense_Mutation SNP A T rs113488022 uc003vwc.3 Hybrid_Cap... view
BRCA2 p.P2735S 13 32937542 32937542 UACC257_SKIN 37 Missense_Mutation SNP C T uc001uub.1 Hybrid_Cap... view
BRF2 p.R304H 8 37702357 37702357 UACC257_SKIN 37 Missense_Mutation SNP C T uc003xkk.2 Hybrid_Cap... view
CACNB2 10 18828721 18828722 UACC257_SKIN 37 3'UTR Ins - AA rs3841459 uc001ipr.2 CACNB2_uc009xjz... Hybrid_Cap...
CDK11B 1 1654066 1654068 UACC257_SKIN 37 Intron Del GCG - uc001agv.1 CDK11B_uc001aha... Hybrid_Cap...
CHD5 p.P230L 1 6214775 6214776 UACC257_SKIN 37 Missense_Mutation DNP GG AA uc001amb.1 Hybrid_Cap...
CLTCL1 p.V1201_splice 22 19189003 19189004 UACC257_SKIN 37 Splice_Site_Ins Ins - C rs11386977 uc002zpb.2 CLTCL1_uc011agv... Hybrid_Cap...
CREB3L2 p.T100del 7 137612914 137612916 UACC257_SKIN 37 In_Frame_Del Del TGG - uc003vtw.2 CREB3L2_uc003vt... Hybrid_Cap...
CTLA4 2 204737686 204737686 UACC257_SKIN 37 3'UTR SNP C T uc002vak.1 CTLA4_uc002val.... Hybrid_Cap... view
CTSL2 9 99796931 99796931 UACC257_SKIN 37 Intron SNP G A uc004awt.2 CTSL2_uc010msi.... Hybrid_Cap... view
CXCL12 10 44873992 44873993 UACC257_SKIN 37 Intron Ins - CT rs117617571 uc001jbh.2 CXCL12_uc001jbf... Hybrid_Cap...
DICER1 p.Y1874H 14 95556984 95556984 UACC257_SKIN 37 Missense_Mutation SNP A G uc001ydw.2 DICER1_uc010avh... Hybrid_Cap... view
DUSP6 p.S300L 12 89743278 89743278 UACC257_SKIN 37 Missense_Mutation SNP G A uc001tay.2 DUSP6_uc001taz.... Hybrid_Cap... view
EDN1 6 12290729 12290729 UACC257_SKIN 37 5'UTR Del A - uc003nae.3 EDN1_uc010jpb.2... Hybrid_Cap...
EP300 22 41574970 41574972 UACC257_SKIN 37 3'UTR Del GTA - rs76489032 uc003azl.3 Hybrid_Cap...
EPHA6 3 97367230 97367231 UACC257_SKIN 37 Intron Ins - A rs115253553 uc010how.1 EPHA6_uc003drs.... Hybrid_Cap...
ETV1 7 14028708 14028708 UACC257_SKIN 37 5'UTR Del A - rs77190713 uc011jxq.1 ETV1_uc011jxn.1... Hybrid_Cap...
FGFR1OP 6 167453519 167453520 UACC257_SKIN 37 3'UTR Ins - T rs115519488 uc003qvj.2 CCR6_uc003qvl.2... Hybrid_Cap...
FGFR3 p.Q771Q 4 1808875 1808875 UACC257_SKIN 37 Silent SNP G A uc003gdu.2 FGFR3_uc003gdr.... Hybrid_Cap... view
FLI1 11 128638217 128638217 UACC257_SKIN 37 Intron Del G - uc010sbu.1 FLI1_uc010sbt.1... Hybrid_Cap...
FLNB p.R1463Q 3 58116633 58116633 UACC257_SKIN 37 Missense_Mutation SNP G A uc010hne.2 FLNB_uc003djj.2... Hybrid_Cap... view
FLNB p.S2278L 3 58140623 58140623 UACC257_SKIN 37 Missense_Mutation SNP C T uc010hne.2 FLNB_uc003djj.2... Hybrid_Cap... view
FN1 2 216244182 216244185 UACC257_SKIN 37 Intron Del GTAC - uc002vfa.2 FN1_uc002vfb.2_... Hybrid_Cap...
FOXP1 3 71008341 71008342 UACC257_SKIN 37 3'UTR Ins - T rs11433724;rs114233617 uc003dol.2 FOXP1_uc003dom.... Hybrid_Cap...
FOXP1 3 71019797 71019797 UACC257_SKIN 37 Intron SNP A T uc003dol.2 FOXP1_uc003dom.... Hybrid_Cap... view
GPR112 p.D2657del X 135474445 135474447 UACC257_SKIN 37 In_Frame_Del Del GAT - rs3030295 uc004ezu.1 GPR112_uc010nsb... Hybrid_Cap...
GRB7 p.E109D 17 37899171 37899171 UACC257_SKIN 37 Missense_Mutation SNP G T uc002hsr.2 GRB7_uc002hss.2... Hybrid_Cap... view
GRIA3 X 122318386 122318387 UACC257_SKIN 37 Splice_Site_Ins Ins - G rs66632982 uc004etq.3 GRIA3_uc004etr.... Hybrid_Cap...
GUCY2C p.E571K 12 14798249 14798249 UACC257_SKIN 37 Missense_Mutation SNP C T uc001rcd.2 Hybrid_Cap... view
GUCY2C 12 14827464 14827466 UACC257_SKIN 37 Intron Del ATC - rs72525754;rs3083879 uc001rcd.2 GUCY2C_uc009zhz... Hybrid_Cap...
HERC2 p.G3801E 15 28389035 28389035 UACC257_SKIN 37 Missense_Mutation SNP C T uc001zbj.2 Hybrid_Cap... view
HIF1A 14 62213929 62213930 UACC257_SKIN 37 3'UTR Ins - T rs67890419 uc001xfs.2 HIF1A_uc001xfq.... Hybrid_Cap...
HIPK2 p.H322Q 7 139415868 139415868 UACC257_SKIN 37 Missense_Mutation SNP G C uc003vvf.3 HIPK2_uc003vvd.... Hybrid_Cap... view
HNF1A 12 121434630 121434631 UACC257_SKIN 37 Intron Ins - TCATTCAT rs75100977 uc010szn.1 HNF1A_uc001tze.... Hybrid_Cap...
ILK 11 6630029 6630029 UACC257_SKIN 37 Intron Del C - uc001mee.2 ILK_uc001mef.2_... Hybrid_Cap...
ITPR2 p.R470_splice 12 26834804 26834805 UACC257_SKIN 37 Splice_Site_Ins Ins - ACTC rs66696203;rs59199365 uc001rhg.2 Hybrid_Cap...
KLK7 19 51480672 51480675 UACC257_SKIN 37 3'UTR Del GGTT - uc002puo.2 KLK7_uc002pup.2... Hybrid_Cap...
LMNA p.E425E 1 156106122 156106122 UACC257_SKIN 37 Silent SNP G A uc001fni.2 LMNA_uc001fnf.1... Hybrid_Cap... view
LRP1B p.S2164F 2 141458127 141458127 UACC257_SKIN 37 Missense_Mutation SNP G A uc002tvj.1 Hybrid_Cap... view
LRRC7 p.G1505R 1 70587469 70587469 UACC257_SKIN 37 Missense_Mutation SNP G A uc001dep.2 LRRC7_uc009wbg.... Hybrid_Cap... view
MAF 16 79628537 79628537 UACC257_SKIN 37 Intron Del T - uc002ffm.2 MAF_uc002ffn.2_... Hybrid_Cap...
MAML3 p.Q767_splice 4 140651585 140651587 UACC257_SKIN 37 Splice_Site_Del Del CTG - uc003ihz.1 MGST2_uc010ioi.... Hybrid_Cap...
MAP3K1 p.T949del 5 56177849 56177851 UACC257_SKIN 37 In_Frame_Del Del CAA - uc003jqw.3 Hybrid_Cap...
MAPK4 18 48256237 48256237 UACC257_SKIN 37 3'UTR SNP C T uc002lev.2 MAPK4_uc010xdm.... Hybrid_Cap... view
MAPKAPK3 3 50685575 50685575 UACC257_SKIN 37 3'UTR Del A - rs76026164 uc003day.1 MAPKAPK3_uc003d... Hybrid_Cap...
MRE11A 11 94226065 94226065 UACC257_SKIN 37 5'UTR SNP T C uc001peu.2 MRE11A_uc001pev... Hybrid_Cap... view
MYLK 3 123332875 123332876 UACC257_SKIN 37 3'UTR Ins - T rs35930843;rs115544676 uc003ego.2 MYLK_uc003egl.2... Hybrid_Cap...
MYST4 p.L1989S 10 76790547 76790548 UACC257_SKIN 37 Missense_Mutation DNP CT TC uc001jwn.1 MYST4_uc001jwo.... Hybrid_Cap...
NAV3 p.S1941F 12 78582059 78582059 UACC257_SKIN 37 Missense_Mutation SNP C T uc001syp.2 NAV3_uc001syo.2... Hybrid_Cap... view
NCAM1 11 112832307 112832308 UACC257_SKIN 37 5'UTR Ins - A rs117108942 uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCAM1 11 112832340 112832340 UACC257_SKIN 37 5'UTR Del C - uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCOA3 p.QQQ1272del 20 46279815 46279823 UACC257_SKIN 37 In_Frame_Del Del GCAGC... - uc002xtk.2 NCOA3_uc010ght.... Hybrid_Cap...
NEK3 p.K313_splice 13 52718050 52718051 UACC257_SKIN 37 Splice_Site_Ins Ins - T rs72514762 uc001vgh.2 NEK3_uc001vgg.2... Hybrid_Cap...
NEK8 p.G165S 17 27062264 27062264 UACC257_SKIN 37 Missense_Mutation SNP G A uc002hcp.2 Hybrid_Cap... view
NFIA 1 61921185 61921186 UACC257_SKIN 37 3'UTR Ins - T rs57270124;rs76131997 uc010oos.1 NFIA_uc001czy.2... Hybrid_Cap...
NFKB1 p.D917_splice 4 103534740 103534741 UACC257_SKIN 37 Splice_Site_Ins Ins - A rs35795162 uc011cep.1 NFKB1_uc011ceq.... Hybrid_Cap...
NOS2 p.R314C 17 26107857 26107857 UACC257_SKIN 37 Missense_Mutation SNP G A uc002gzu.2 NOS2_uc010crh.1... Hybrid_Cap... view
NPR1 1 153665919 153665920 UACC257_SKIN 37 3'UTR Ins - C rs66682713 uc001fcs.3 NPR1_uc010pdz.1... Hybrid_Cap...
NR1H2 p.176_177insQ 19 50881820 50881821 UACC257_SKIN 37 In_Frame_Ins Ins - AAC rs66783852;rs112359270 uc010enw.2 NR1H2_uc002prv.... Hybrid_Cap...
NTRK1 p.P387L 1 156843734 156843734 UACC257_SKIN 37 Missense_Mutation SNP C T uc001fqh.1 NTRK1_uc001fqf.... Hybrid_Cap... view
OBSCN p.G6665S 1 228557668 228557668 UACC257_SKIN 37 Missense_Mutation SNP G A uc009xez.1 OBSCN_uc001hsr.... Hybrid_Cap... view
PAX3 2 223158653 223158653 UACC257_SKIN 37 Intron Del T - rs112753212 uc002vmt.1 PAX3_uc002vmy.1... Hybrid_Cap...
PDE4DIP p.S1381P 1 144879309 144879309 UACC257_SKIN 37 Missense_Mutation SNP A G uc001elw.3 NBPF10_uc009wir... Hybrid_Cap... view
PDK2 p.R166C 17 48183411 48183412 UACC257_SKIN 37 Missense_Mutation DNP CC TT uc002iqc.2 PDK2_uc002iqb.2... Hybrid_Cap...
PIP5K1A p.R410_splice 1 151211604 151211604 UACC257_SKIN 37 Splice_Site_SNP SNP A G uc001exj.2 PIP5K1A_uc001ex... Hybrid_Cap... view
PRKD1 p.G181S 14 30133060 30133060 UACC257_SKIN 37 Missense_Mutation SNP C T uc001wqh.2 Hybrid_Cap... view
PRKDC p.P2708S 8 48746787 48746787 UACC257_SKIN 37 Missense_Mutation SNP G A uc003xqi.2 PRKDC_uc003xqj.... Hybrid_Cap... view
PRKDC p.L1244fs 8 48805816 48805817 UACC257_SKIN 37 Frame_Shift_Ins Ins - G rs67588121 uc003xqi.2 PRKDC_uc003xqj.... Hybrid_Cap...
RASGRF1 15 79277150 79277151 UACC257_SKIN 37 Intron Ins - C rs67045840;rs77640668 uc002beq.2 RASGRF1_uc002be... Hybrid_Cap...
RBPJ 4 26431822 26431822 UACC257_SKIN 37 Intron Del A - rs76214390 uc003grx.1 RBPJ_uc003gry.1... Hybrid_Cap...
RECQL4 p.R766fs 8 145738768 145738768 UACC257_SKIN 37 Frame_Shift_Del Del G - uc003zdj.2 Hybrid_Cap...
RPS6KL1 14 75373626 75373627 UACC257_SKIN 37 3'UTR Ins - TGAT uc001xqx.1 RPS6KL1_uc001xq... Hybrid_Cap...
SCYL3 p.W570fs 1 169823869 169823870 UACC257_SKIN 37 Frame_Shift_Del Del CC - uc001ggs.2 SCYL3_uc010plw.... Hybrid_Cap...
SLC6A8 X 152957656 152957657 UACC257_SKIN 37 Intron Ins - A uc004fib.3 SLC6A8_uc004fic... Hybrid_Cap...
STK31 7 23872024 23872025 UACC257_SKIN 37 3'UTR Ins - TTTG rs66787534 uc003sws.3 STK31_uc003swt.... Hybrid_Cap...
TCF21 6 134210497 134210498 UACC257_SKIN 37 5'UTR Ins - TCTC rs35199378 uc003qei.3 TCF21_uc003qej.... Hybrid_Cap...
TEC 4 48139307 48139310 UACC257_SKIN 37 3'UTR Del TTAT - rs79098351 uc003gxz.2 Hybrid_Cap...
TLK1 2 171850178 171850179 UACC257_SKIN 37 3'UTR Ins - AA rs71008739 uc002ugo.2 TLK1_uc002ugn.2... Hybrid_Cap...
TMEM123 11 102269398 102269398 UACC257_SKIN 37 3'UTR Del G - uc001pha.2 TMEM123_uc009yx... Hybrid_Cap...
TNN p.G134E 1 175046955 175046955 UACC257_SKIN 37 Missense_Mutation SNP G A uc001gkl.1 TNN_uc010pmx.1_... Hybrid_Cap... view
TP53RK 20 45315157 45315157 UACC257_SKIN 37 3'UTR SNP G A rs45505297 uc002xsk.2 SLC13A3_uc002xs... Hybrid_Cap... view
TRPS1 8 116635872 116635873 UACC257_SKIN 37 5'UTR Ins - A rs76893349 uc003yny.2 TRPS1_uc011lhy.... Hybrid_Cap...
TRRAP p.S221F 7 98497073 98497073 UACC257_SKIN 37 Missense_Mutation SNP C T uc003upp.2 TRRAP_uc011kis.... Hybrid_Cap... view
TTN 2 179391639 179391640 UACC257_SKIN 37 3'UTR Ins - T rs36037175 uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap...
TTN p.E11906K 2 179497313 179497313 UACC257_SKIN 37 Missense_Mutation SNP C T uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
TTN p.G6537E 2 179585147 179585147 UACC257_SKIN 37 Missense_Mutation SNP C T uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
TTN p.L5135V 2 179593630 179593630 UACC257_SKIN 37 Missense_Mutation SNP G C uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
VEGFC p.S419_splice 4 177605082 177605084 UACC257_SKIN 37 Splice_Site_Del Del TCA - uc003ius.1 Hybrid_Cap...
WRN p.K804E 8 30974006 30974006 UACC257_SKIN 37 Missense_Mutation SNP A G uc003xio.3 WRN_uc010lvk.2_... Hybrid_Cap... view
ZMYM2 13 20593781 20593781 UACC257_SKIN 37 Intron SNP T G uc001umr.2 ZMYM2_uc001umq.... Hybrid_Cap... view
ZNF423 p.E1111K 16 49669732 49669732 UACC257_SKIN 37 Missense_Mutation SNP C T uc002efs.2 ZNF423_uc010vgn... Hybrid_Cap... view