Annotation Summary for Cell Line: SH-4  

Cell line primary name: SH-4
Cell line aliases:
Gender: F
Site Primary: skin
Histology: malignant_melanoma
Hist Subtype1: NS
Notes:
Source: ATCC
Expression arrays: BITTS_p_NCLE_RNA12_HG-U133_Plus_2_A11_698760
SNP arrays: MISTS_p_NCLE_DNAAffy11_GenomeWideSNP_6_C06_578404
Oncomap: yes
Hybrid Capture Sequencing: yes


Mutations in SH-4

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 SH4_SKIN 37 In_Frame_Del Del TGT - rs55712143 uc002sfp.2 AAK1_uc010fdk.2... Hybrid_Cap...
ACACA 17 35766564 35766564 SH4_SKIN 37 5'UTR Del A - uc002hno.2 ACACA_uc002hnn.... Hybrid_Cap...
ACVRL1 p.H328Y 12 52309218 52309218 SH4_SKIN 37 Missense_Mutation SNP C T uc001rzj.2 ACVRL1_uc001rzk... Hybrid_Cap... view
ADAM17 2 9630245 9630245 SH4_SKIN 37 3'UTR Del T - uc002qzu.2 IAH1_uc010yiz.1... Hybrid_Cap...
ADAM28 8 24211994 24211997 SH4_SKIN 37 3'UTR Del CTAT - rs10610134 uc003xdy.2 ADAM28_uc011laa... Hybrid_Cap...
ADAMTS18 p.D337N 16 77397746 77397746 SH4_SKIN 37 Missense_Mutation SNP C T uc002ffc.3 ADAMTS18_uc010c... Hybrid_Cap... view
AKAP12 p.1531_1532insE 6 151674116 151674117 SH4_SKIN 37 In_Frame_Ins Ins - GAG rs34737819 uc011eep.1 AKAP12_uc003qoe... Hybrid_Cap...
AKAP9 p.1335_1336insQ 7 91652178 91652179 SH4_SKIN 37 In_Frame_Ins Ins - AAC rs34756483 uc003ulg.2 AKAP9_uc003ule.... Hybrid_Cap...
ALPK2 p.EDTST1006del 18 56204388 56204402 SH4_SKIN 37 In_Frame_Del Del CAGTT... - rs60644017;rs117623369 uc002lhj.3 ALPK2_uc002lhk.... Hybrid_Cap...
ASTN1 p.S597T 1 176926912 176926912 SH4_SKIN 37 Missense_Mutation SNP A T uc001glc.2 ASTN1_uc001glb.... Hybrid_Cap... view
AURKC p.K137N 19 57744024 57744024 SH4_SKIN 37 Missense_Mutation SNP A T uc002qoe.2 AURKC_uc002qoc.... Hybrid_Cap... view
BCL11A 2 60687400 60687401 SH4_SKIN 37 3'UTR Ins - TGTT rs34355930 uc002sae.1 BCL11A_uc002sab... Hybrid_Cap...
BCL9 p.H552Y 1 147091615 147091615 SH4_SKIN 37 Missense_Mutation SNP C T uc001epq.2 BCL9_uc010ozr.1... Hybrid_Cap... view
BLK p.P335Q 8 11415522 11415522 SH4_SKIN 37 Missense_Mutation SNP C A uc003wty.2 BLK_uc003wtz.2_... Hybrid_Cap... view
BRAF p.V600E 7 140453136 140453136 SH4_SKIN 37 Missense_Mutation SNP A T rs113488022 uc003vwc.3 Hybrid_Cap... view
C17ORF37 17 37885640 37885641 SH4_SKIN 37 3'UTR Ins - G rs75811535 uc002hsq.2 Hybrid_Cap...
CABC1 1 227171585 227171585 SH4_SKIN 37 Intron Del T - uc001hqm.1 CABC1_uc001hqn.... Hybrid_Cap...
CAMK2A 5 149602223 149602224 SH4_SKIN 37 3'UTR Del AC - uc003lrt.2 CAMK2A_uc003lrs... Hybrid_Cap...
CAMK4 p.I148I 5 110730465 110730465 SH4_SKIN 37 Silent SNP C T uc011cvj.1 CAMK4_uc003kpf.... Hybrid_Cap... view
CASP8 2 202151399 202151399 SH4_SKIN 37 3'UTR SNP C T uc002uxt.1 CASP8_uc002uxp.... Hybrid_Cap... view
CDK11B 1 1654066 1654068 SH4_SKIN 37 Intron Del GCG - uc001agv.1 CDK11B_uc001aha... Hybrid_Cap...
CDKN2C p.L107V 1 51439754 51439754 SH4_SKIN 37 Missense_Mutation SNP T G uc001csf.2 CDKN2C_uc001csg... Hybrid_Cap... view
CHRNB4 p.R22R 15 78927919 78927919 SH4_SKIN 37 Silent SNP G A uc002bed.1 CHRNB4_uc002bee... Hybrid_Cap... view
CLTCL1 p.V1201_splice 22 19189003 19189004 SH4_SKIN 37 Splice_Site_Ins Ins - C rs11386977 uc002zpb.2 CLTCL1_uc011agv... Hybrid_Cap...
CPAMD8 p.V1511F 19 17014529 17014529 SH4_SKIN 37 Missense_Mutation SNP C A uc002nfb.2 CPAMD8_uc002nfd... Hybrid_Cap... view
CREB3L2 p.T100del 7 137612914 137612916 SH4_SKIN 37 In_Frame_Del Del TGG - uc003vtw.2 CREB3L2_uc003vt... Hybrid_Cap...
EP300 22 41574970 41574972 SH4_SKIN 37 3'UTR Del GTA - rs76489032 uc003azl.3 Hybrid_Cap...
EPHA6 3 97467610 97467611 SH4_SKIN 37 3'UTR Ins - CT uc010how.1 Hybrid_Cap...
EWSR1 p.S280R 22 29684623 29684623 SH4_SKIN 37 Missense_Mutation SNP C G uc003aev.2 EWSR1_uc003aes.... Hybrid_Cap... view
FFAR2 19 35941629 35941629 SH4_SKIN 37 3'UTR SNP G A uc002nzg.2 FFAR2_uc010eea.... Hybrid_Cap... view
FGFR1OP 6 167453519 167453520 SH4_SKIN 37 3'UTR Ins - T rs115519488 uc003qvj.2 CCR6_uc003qvl.2... Hybrid_Cap...
FGFR3 4 1809128 1809129 SH4_SKIN 37 3'UTR Del GT - uc003gdu.2 FGFR3_uc003gdr.... Hybrid_Cap...
FMO4 1 171311126 171311126 SH4_SKIN 37 3'UTR SNP T C uc001gho.2 Hybrid_Cap... view
FN1 2 216244182 216244185 SH4_SKIN 37 Intron Del GTAC - uc002vfa.2 FN1_uc002vfb.2_... Hybrid_Cap...
GMPS 3 155655502 155655502 SH4_SKIN 37 3'UTR SNP A C uc003faq.2 GMPS_uc011bom.1... Hybrid_Cap... view
GPR112 p.P510Q X 135427394 135427394 SH4_SKIN 37 Missense_Mutation SNP C A uc004ezu.1 GPR112_uc010nsb... Hybrid_Cap... view
GPR112 p.D2657del X 135474445 135474447 SH4_SKIN 37 In_Frame_Del Del GAT - rs3030295 uc004ezu.1 GPR112_uc010nsb... Hybrid_Cap...
GRIA3 X 122318386 122318387 SH4_SKIN 37 Splice_Site_Ins Ins - G rs66632982 uc004etq.3 GRIA3_uc004etr.... Hybrid_Cap...
GRIN2B p.A1271V 12 13716360 13716360 SH4_SKIN 37 Missense_Mutation SNP G A uc001rbt.2 Hybrid_Cap... view
GRK6 5 176858839 176858839 SH4_SKIN 37 Intron SNP C T uc011dfz.1 GRK6_uc003mgp.2... Hybrid_Cap... view
GUCY2C 12 14827464 14827466 SH4_SKIN 37 Intron Del ATC - rs72525754;rs3083879 uc001rcd.2 GUCY2C_uc009zhz... Hybrid_Cap...
HIF1A p.I199N 14 62194193 62194193 SH4_SKIN 37 Missense_Mutation SNP T A uc001xfs.2 HIF1A_uc001xfq.... Hybrid_Cap... view
HNF1A 12 121434630 121434631 SH4_SKIN 37 Intron Ins - TCATTCAT rs75100977 uc010szn.1 HNF1A_uc001tze.... Hybrid_Cap...
HSP90B1 p.E791del 12 104341188 104341190 SH4_SKIN 37 In_Frame_Del Del GAA - rs117491163 uc001tkb.1 HSP90B1_uc010sw... Hybrid_Cap...
HSP90B1 12 104341645 104341648 SH4_SKIN 37 3'UTR Del ACTG - rs2307842 uc001tkb.1 HSP90B1_uc010sw... Hybrid_Cap...
ILK 11 6630029 6630029 SH4_SKIN 37 Intron Del C - uc001mee.2 ILK_uc001mef.2_... Hybrid_Cap...
INSRR p.E1248K 1 156810817 156810817 SH4_SKIN 37 Missense_Mutation SNP C T uc010pht.1 NTRK1_uc001fqf.... Hybrid_Cap... view
IRS2 13 110408409 110408409 SH4_SKIN 37 3'UTR SNP A G uc001vqv.2 Hybrid_Cap... view
ITPR2 p.R470_splice 12 26834804 26834805 SH4_SKIN 37 Splice_Site_Ins Ins - ACTC rs66696203;rs59199365 uc001rhg.2 Hybrid_Cap...
KLK7 19 51480672 51480675 SH4_SKIN 37 3'UTR Del GGTT - uc002puo.2 KLK7_uc002pup.2... Hybrid_Cap...
LRP2 p.A880_splice 2 170113633 170113633 SH4_SKIN 37 Splice_Site_SNP SNP C T uc002ues.2 LRP2_uc010zdf.1... Hybrid_Cap... view
MAF 16 79628537 79628537 SH4_SKIN 37 Intron Del T - uc002ffm.2 MAF_uc002ffn.2_... Hybrid_Cap...
MAML3 p.Q767_splice 4 140651585 140651587 SH4_SKIN 37 Splice_Site_Del Del CTG - uc003ihz.1 MGST2_uc010ioi.... Hybrid_Cap...
MAP2K6 17 67516353 67516353 SH4_SKIN 37 Intron SNP A T rs77138194 uc002jij.2 MAP2K6_uc002jii... Hybrid_Cap... view
MAP3K1 p.T949del 5 56177849 56177851 SH4_SKIN 37 In_Frame_Del Del CAA - uc003jqw.3 Hybrid_Cap...
MAP3K14 p.R218_splice 17 43364293 43364294 SH4_SKIN 37 Splice_Site_Ins Ins - G rs66766023 uc002iiw.1 MAP3K14_uc010da... Hybrid_Cap...
MAPK10 4 86938296 86938297 SH4_SKIN 37 3'UTR Ins - TG rs72228542 uc003hpq.2 MAPK10_uc010ikg... Hybrid_Cap...
MAPK14 6 36076345 36076354 SH4_SKIN 37 3'UTR Del GTGTG... - rs80147786 uc003olp.2 MAPK14_uc003olq... Hybrid_Cap...
MARK2 p.K177_splice 11 63666581 63666582 SH4_SKIN 37 Splice_Site_DNP DNP GT AA uc001nxw.2 MARK2_uc001nxx.... Hybrid_Cap...
MCL1 1 150549834 150549834 SH4_SKIN 37 3'UTR SNP T C uc001euz.2 MCL1_uc010pch.1... Hybrid_Cap... view
MKL1 p.S439C 22 40815127 40815127 SH4_SKIN 37 Missense_Mutation SNP T A uc003ayv.1 MKL1_uc003ayw.1... Hybrid_Cap... view
MYLK p.E1066del 3 123419117 123419119 SH4_SKIN 37 In_Frame_Del Del TTC - rs72491150 uc003ego.2 MYLK_uc011bjw.1... Hybrid_Cap...
NCAM1 11 112832307 112832308 SH4_SKIN 37 5'UTR Ins - A rs117108942 uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCAM1 11 112832340 112832340 SH4_SKIN 37 5'UTR Del C - uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCOA2 p.V204I 8 71078921 71078921 SH4_SKIN 37 Missense_Mutation SNP C T uc003xyn.1 Hybrid_Cap... view
NEK3 p.K313_splice 13 52718050 52718051 SH4_SKIN 37 Splice_Site_Ins Ins - T rs72514762 uc001vgh.2 NEK3_uc001vgg.2... Hybrid_Cap...
NFIA 1 61921185 61921186 SH4_SKIN 37 3'UTR Ins - T rs57270124;rs76131997 uc010oos.1 NFIA_uc001czy.2... Hybrid_Cap...
NFKB1 p.D917_splice 4 103534740 103534741 SH4_SKIN 37 Splice_Site_Ins Ins - A rs35795162 uc011cep.1 NFKB1_uc011ceq.... Hybrid_Cap...
NLRP3 p.P202L 1 247587350 247587350 SH4_SKIN 37 Missense_Mutation SNP C T uc001icr.2 NLRP3_uc001ics.... Hybrid_Cap... view
NPR1 1 153665919 153665920 SH4_SKIN 37 3'UTR Ins - C rs66682713 uc001fcs.3 NPR1_uc010pdz.1... Hybrid_Cap...
NR1H2 p.176_177insQ 19 50881820 50881821 SH4_SKIN 37 In_Frame_Ins Ins - AAC rs66783852;rs112359270 uc010enw.2 NR1H2_uc002prv.... Hybrid_Cap...
OBSCN p.C2361Y 1 228466612 228466612 SH4_SKIN 37 Missense_Mutation SNP G A uc009xez.1 OBSCN_uc001hsn.... Hybrid_Cap... view
OBSCN p.G4978D 1 228509475 228509475 SH4_SKIN 37 Missense_Mutation SNP G A uc009xez.1 OBSCN_uc001hsn.... Hybrid_Cap... view
OR4E2 p.L225V 14 22133969 22133969 SH4_SKIN 37 Missense_Mutation SNP C G uc010tmd.1 Hybrid_Cap... view
PAX3 2 223158653 223158653 SH4_SKIN 37 Intron Del T - rs112753212 uc002vmt.1 PAX3_uc002vmy.1... Hybrid_Cap...
PCDH15 10 55581525 55581525 SH4_SKIN 37 3'UTR SNP A G uc010qhy.1 PCDH15_uc010qhq... Hybrid_Cap... view
PDE4DIP p.Q1665fs 1 144873963 144873963 SH4_SKIN 37 Frame_Shift_Del Del T - uc001elw.3 NBPF10_uc009wir... Hybrid_Cap...
PDE4DIP p.V486fs 1 144917828 144917828 SH4_SKIN 37 Frame_Shift_Del Del A - uc001elw.3 NBPF10_uc009wir... Hybrid_Cap...
PIK3C2A 11 17111197 17111198 SH4_SKIN 37 3'UTR Ins - GT rs113847613 uc001mmq.3 PIK3C2A_uc009yg... Hybrid_Cap...
PIK3C2G p.P129del 12 18435399 18435401 SH4_SKIN 37 In_Frame_Del Del CCC - uc010sib.1 PIK3C2G_uc001rd... Hybrid_Cap...
PKN2 p.E216Q 1 89237127 89237127 SH4_SKIN 37 Missense_Mutation SNP G C uc001dmn.2 PKN2_uc001dmm.1... Hybrid_Cap... view
POU5F1B 8 128429219 128429219 SH4_SKIN 37 3'UTR SNP C A uc003ysf.2 LOC727677_uc003... Hybrid_Cap... view
PRKDC p.L1244fs 8 48805816 48805817 SH4_SKIN 37 Frame_Shift_Ins Ins - G rs67588121 uc003xqi.2 PRKDC_uc003xqj.... Hybrid_Cap...
PRKG1 10 52751071 52751079 SH4_SKIN 37 5'UTR Del GCCGC... - uc001jjm.2 PRKG1_uc010qhp.... Hybrid_Cap...
PTPRC p.Y1097C 1 198721466 198721466 SH4_SKIN 37 Missense_Mutation SNP A G uc001gur.1 PTPRC_uc001gus.... Hybrid_Cap... view
PXK p.R441Q 3 58395272 58395272 SH4_SKIN 37 Missense_Mutation SNP G A uc003djz.1 PXK_uc003djx.1_... Hybrid_Cap... view
RAD50 p.R365Q 5 131924421 131924421 SH4_SKIN 37 Missense_Mutation SNP G A uc003kxi.2 RAD50_uc003kxh.... Hybrid_Cap... view
RAP1GDS1 p.S328L 4 99338590 99338590 SH4_SKIN 37 Missense_Mutation SNP C T uc003htw.3 RAP1GDS1_uc003h... Hybrid_Cap... view
RBPJ p.R238* 4 26426291 26426291 SH4_SKIN 37 Nonsense_Mutation SNP C T rs5007634 uc003grx.1 RBPJ_uc003gry.1... Hybrid_Cap... view
ROBO1 3 78763783 78763783 SH4_SKIN 37 Intron SNP T A uc003dqe.2 ROBO1_uc003dqb.... Hybrid_Cap... view
ROBO2 3 77666937 77666937 SH4_SKIN 37 Intron Del A - rs78745603 uc003dpz.2 ROBO2_uc003dpy.... Hybrid_Cap...
RPS6KA5 14 91360733 91360734 SH4_SKIN 37 Intron Ins - T rs77438853 uc001xys.2 RPS6KA5_uc010tw... Hybrid_Cap...
RPS6KL1 14 75373626 75373627 SH4_SKIN 37 3'UTR Ins - TGAT uc001xqx.1 RPS6KL1_uc001xq... Hybrid_Cap...
SPTAN1 p.A420T 9 131341952 131341952 SH4_SKIN 37 Missense_Mutation SNP G A uc004bvm.3 SPTAN1_uc011mbg... Hybrid_Cap... view
SPTAN1 p.H1263R 9 131367381 131367381 SH4_SKIN 37 Missense_Mutation SNP A G uc004bvm.3 SPTAN1_uc011mbh... Hybrid_Cap... view
STAT1 2 191840353 191840353 SH4_SKIN 37 Intron Del T - uc002usj.2 STAT1_uc010fse.... Hybrid_Cap...
STK31 7 23872024 23872025 SH4_SKIN 37 3'UTR Ins - TTTG rs66787534 uc003sws.3 STK31_uc003swt.... Hybrid_Cap...
TFRC p.P581S 3 195782109 195782109 SH4_SKIN 37 Missense_Mutation SNP G A uc003fvz.3 TFRC_uc003fwa.3... Hybrid_Cap... view
TNK2 3 195595741 195595741 SH4_SKIN 37 Intron SNP C T uc003fvt.1 TNK2_uc003fvq.1... Hybrid_Cap... view
TP63 3 189507518 189507519 SH4_SKIN 37 Intron Ins - AGAG rs62702062;rs79714037 uc003fry.2 TP63_uc003frx.2... Hybrid_Cap...
TRPM6 p.L1222M 9 77377923 77377923 SH4_SKIN 37 Missense_Mutation SNP G T uc004ajl.1 TRPM6_uc004ajk.... Hybrid_Cap... view
TTN 2 179391639 179391640 SH4_SKIN 37 3'UTR Ins - T rs36037175 uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap...
TTN p.K16248N 2 179464072 179464072 SH4_SKIN 37 Missense_Mutation SNP C A uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
TUFT1 p.R261W 1 151547444 151547444 SH4_SKIN 37 Missense_Mutation SNP C T uc001eyl.2 TUFT1_uc001eym.... Hybrid_Cap... view
ULK1 p.P592S 12 132400600 132400600 SH4_SKIN 37 Missense_Mutation SNP C T uc001uje.2 Hybrid_Cap... view
URB2 p.180_181YL>*F 1 229770900 229770901 SH4_SKIN 37 Nonsense_Mutation DNP TC AT uc001hts.1 URB2_uc009xfd.1... Hybrid_Cap...
VEGFA 6 43752302 43752302 SH4_SKIN 37 3'UTR SNP C T uc003owh.2 VEGFA_uc003owd.... Hybrid_Cap... view
VEGFC p.S419_splice 4 177605082 177605084 SH4_SKIN 37 Splice_Site_Del Del TCA - uc003ius.1 Hybrid_Cap...
VPS13B 8 100887955 100887955 SH4_SKIN 37 3'UTR SNP G A uc003yiv.2 VPS13B_uc003yiw... Hybrid_Cap... view