Annotation Summary for Cell Line: SK-N-AS  

Cell line primary name: SK-N-AS
Cell line aliases:
Gender: F
Site Primary: autonomic_ganglia
Histology: neuroblastoma
Hist Subtype1: NS
Notes:
Source: ATCC
Expression arrays: CASED_p_NCLE_RNA4_HG-U133_Plus_2_G03_383634
SNP arrays: FIEFS_p_NCLE_DNA_Affy5_GenomeWideSNP_6_C08_411042
Oncomap: yes
Hybrid Capture Sequencing: yes


Mutations in SK-N-AS

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 SKNAS_AUTONOMIC... 37 In_Frame_Del Del TGT - rs55712143 uc002sfp.2 AAK1_uc010fdk.2... Hybrid_Cap...
ACOXL p.A140S 2 111556259 111556259 SKNAS_AUTONOMIC... 37 Missense_Mutation SNP G T uc010yxk.1 ACOXL_uc010fkc.... Hybrid_Cap... view
ADAM17 2 9630245 9630245 SKNAS_AUTONOMIC... 37 3'UTR Del T - uc002qzu.2 IAH1_uc010yiz.1... Hybrid_Cap...
ADAM28 8 24211994 24211997 SKNAS_AUTONOMIC... 37 3'UTR Del CTAT - rs10610134 uc003xdy.2 ADAM28_uc011laa... Hybrid_Cap...
AKAP12 p.1531_1532insE 6 151674116 151674117 SKNAS_AUTONOMIC... 37 In_Frame_Ins Ins - GAG rs34737819 uc011eep.1 AKAP12_uc003qoe... Hybrid_Cap...
ALPK1 4 113347609 113347610 SKNAS_AUTONOMIC... 37 Intron Ins - T rs68137453 uc003iap.3 ALPK1_uc003ian.... Hybrid_Cap...
ALPK2 p.EDTST1006del 18 56204388 56204402 SKNAS_AUTONOMIC... 37 In_Frame_Del Del CAGTT... - rs60644017;rs117623369 uc002lhj.3 ALPK2_uc002lhk.... Hybrid_Cap...
ASTN1 p.S653T 1 176918418 176918418 SKNAS_AUTONOMIC... 37 Missense_Mutation SNP A T uc001glc.2 ASTN1_uc001glb.... Hybrid_Cap... view
ATR p.V2158F 3 142188259 142188259 SKNAS_AUTONOMIC... 37 Missense_Mutation SNP C A uc003eux.3 ATR_uc003euy.1_... Hybrid_Cap... view
BAI3 p.A1095T 6 70048902 70048902 SKNAS_AUTONOMIC... 37 Missense_Mutation SNP G A uc003pev.3 BAI3_uc010kak.2... Hybrid_Cap... view
BCL3 19 45262965 45262965 SKNAS_AUTONOMIC... 37 3'UTR Del C - uc010xxe.1 Hybrid_Cap...
BCR 22 23631813 23631814 SKNAS_AUTONOMIC... 37 Intron Ins - C rs66503844 uc002zww.2 BCR_uc002zwx.2_... Hybrid_Cap...
BMP4 14 54416601 54416602 SKNAS_AUTONOMIC... 37 3'UTR Ins - A rs74495140;rs76335800 uc001xal.3 BMP4_uc010aoh.2... Hybrid_Cap...
BNIP3 10 133784120 133784120 SKNAS_AUTONOMIC... 37 Intron SNP G A uc001lkv.1 BNIP3_uc001lku.... Hybrid_Cap... view
CABC1 1 227171585 227171585 SKNAS_AUTONOMIC... 37 Intron Del T - uc001hqm.1 CABC1_uc001hqn.... Hybrid_Cap...
CAMK1 p.R116W 3 9804681 9804681 SKNAS_AUTONOMIC... 37 Missense_Mutation SNP G A uc003bst.2 OGG1_uc003bsk.2... Hybrid_Cap... view
CATSPERB p.G1013D 14 92054341 92054341 SKNAS_AUTONOMIC... 37 Missense_Mutation SNP C T uc001xzs.1 CATSPERB_uc010a... Hybrid_Cap... view
CHD1 p.P1684del 5 98192165 98192167 SKNAS_AUTONOMIC... 37 In_Frame_Del Del AGG - rs79267787;rs61749618 uc003knf.2 CHD1_uc010jbn.2... Hybrid_Cap...
CHIC2 4 54876132 54876132 SKNAS_AUTONOMIC... 37 3'UTR Del C - rs4437313 uc003haj.1 PDGFRA_uc003haa... Hybrid_Cap...
CLTCL1 p.R1226C 22 19188929 19188929 SKNAS_AUTONOMIC... 37 Missense_Mutation SNP G A uc002zpb.2 CLTCL1_uc011agv... Hybrid_Cap... view
CLTCL1 p.V1201_splice 22 19189003 19189004 SKNAS_AUTONOMIC... 37 Splice_Site_Ins Ins - C rs11386977 uc002zpb.2 CLTCL1_uc011agv... Hybrid_Cap...
CLTCL1 22 19196673 19196674 SKNAS_AUTONOMIC... 37 Intron Ins - A uc002zpb.2 CLTCL1_uc011agv... Hybrid_Cap...
CREB3L2 p.T100del 7 137612914 137612916 SKNAS_AUTONOMIC... 37 In_Frame_Del Del TGG - uc003vtw.2 CREB3L2_uc003vt... Hybrid_Cap...
DDR2 1 162750211 162750212 SKNAS_AUTONOMIC... 37 3'UTR Del TT - uc001gcf.2 DDR2_uc001gcg.2... Hybrid_Cap...
DNAH8 p.K984N 6 38790693 38790693 SKNAS_AUTONOMIC... 37 Missense_Mutation SNP G T uc003ooe.1 Hybrid_Cap... view
DNAH8 p.D1019H 6 38790796 38790796 SKNAS_AUTONOMIC... 37 Missense_Mutation SNP G C uc003ooe.1 Hybrid_Cap... view
EPHA6 3 97367230 97367231 SKNAS_AUTONOMIC... 37 Intron Ins - A rs115253553 uc010how.1 EPHA6_uc003drs.... Hybrid_Cap...
ETV1 7 14028708 14028708 SKNAS_AUTONOMIC... 37 5'UTR Del A - rs77190713 uc011jxq.1 ETV1_uc011jxn.1... Hybrid_Cap...
EWSR1 22 29687480 29687481 SKNAS_AUTONOMIC... 37 Intron Ins - C rs66871950 uc003aev.2 EWSR1_uc003aet.... Hybrid_Cap...
FBN2 p.C706S 5 127705007 127705007 SKNAS_AUTONOMIC... 37 Missense_Mutation SNP A T uc003kuu.2 FBN2_uc003kuv.2... Hybrid_Cap... view
FGFR1OP 6 167453519 167453520 SKNAS_AUTONOMIC... 37 3'UTR Ins - T rs115519488 uc003qvj.2 CCR6_uc003qvl.2... Hybrid_Cap...
FGFR3 4 1809128 1809129 SKNAS_AUTONOMIC... 37 3'UTR Del GT - uc003gdu.2 FGFR3_uc003gdr.... Hybrid_Cap...
FLI1 11 128638217 128638217 SKNAS_AUTONOMIC... 37 Intron Del G - uc010sbu.1 FLI1_uc010sbt.1... Hybrid_Cap...
FLT3 p.G739R 13 28599073 28599073 SKNAS_AUTONOMIC... 37 Missense_Mutation SNP C G uc001urw.2 FLT3_uc010aao.2... Hybrid_Cap... view
FN1 2 216244182 216244185 SKNAS_AUTONOMIC... 37 Intron Del GTAC - uc002vfa.2 FN1_uc002vfb.2_... Hybrid_Cap...
FZD1 p.G265V 7 90894989 90894989 SKNAS_AUTONOMIC... 37 Missense_Mutation SNP G T uc003ula.2 Hybrid_Cap... view
GPR112 p.D2657del X 135474445 135474447 SKNAS_AUTONOMIC... 37 In_Frame_Del Del GAT - rs3030295 uc004ezu.1 GPR112_uc010nsb... Hybrid_Cap...
GPR183 13 99947250 99947250 SKNAS_AUTONOMIC... 37 3'UTR SNP T C uc001vog.2 UBAC2_uc001voa.... Hybrid_Cap... view
GRIA3 X 122318386 122318387 SKNAS_AUTONOMIC... 37 Splice_Site_Ins Ins - G rs66632982 uc004etq.3 GRIA3_uc004etr.... Hybrid_Cap...
GUCY2C 12 14827464 14827466 SKNAS_AUTONOMIC... 37 Intron Del ATC - rs72525754;rs3083879 uc001rcd.2 GUCY2C_uc009zhz... Hybrid_Cap...
HIF1A 14 62213929 62213930 SKNAS_AUTONOMIC... 37 3'UTR Ins - T rs67890419 uc001xfs.2 HIF1A_uc001xfq.... Hybrid_Cap...
HSP90B1 p.E791del 12 104341188 104341190 SKNAS_AUTONOMIC... 37 In_Frame_Del Del GAA - rs117491163 uc001tkb.1 HSP90B1_uc010sw... Hybrid_Cap...
ILK 11 6630029 6630029 SKNAS_AUTONOMIC... 37 Intron Del C - uc001mee.2 ILK_uc001mef.2_... Hybrid_Cap...
INSRR p.L83M 1 156823934 156823934 SKNAS_AUTONOMIC... 37 Missense_Mutation SNP G T uc010pht.1 NTRK1_uc001fqf.... Hybrid_Cap... view
ITGB1 p.P810L 10 33195411 33195411 SKNAS_AUTONOMIC... 37 Missense_Mutation SNP G A uc001iwq.3 ITGB1_uc001iwp.... Hybrid_Cap... view
ITGB4 p.R1748C 17 73753304 73753304 SKNAS_AUTONOMIC... 37 Missense_Mutation SNP C T uc002jpg.2 ITGB4_uc002jph.... Hybrid_Cap... view
ITPR2 p.R470_splice 12 26834804 26834805 SKNAS_AUTONOMIC... 37 Splice_Site_Ins Ins - ACTC rs66696203;rs59199365 uc001rhg.2 Hybrid_Cap...
KLK7 19 51480672 51480675 SKNAS_AUTONOMIC... 37 3'UTR Del GGTT - uc002puo.2 KLK7_uc002pup.2... Hybrid_Cap...
LRP2 p.G522_splice 2 170134463 170134463 SKNAS_AUTONOMIC... 37 Splice_Site_SNP SNP T A uc002ues.2 LRP2_uc010zdf.1... Hybrid_Cap... view
MAML3 p.Q767_splice 4 140651585 140651587 SKNAS_AUTONOMIC... 37 Splice_Site_Del Del CTG - uc003ihz.1 MGST2_uc010ioi.... Hybrid_Cap...
MAP3K1 p.T949del 5 56177849 56177851 SKNAS_AUTONOMIC... 37 In_Frame_Del Del CAA - uc003jqw.3 Hybrid_Cap...
MAP3K14 p.R218_splice 17 43364293 43364294 SKNAS_AUTONOMIC... 37 Splice_Site_Ins Ins - G rs66766023 uc002iiw.1 MAP3K14_uc010da... Hybrid_Cap...
MAPK14 6 36063793 36063793 SKNAS_AUTONOMIC... 37 Intron SNP C T uc003olp.2 MAPK14_uc011dth... Hybrid_Cap... view
MAPK4 18 48190270 48190271 SKNAS_AUTONOMIC... 37 De_novo_Start_InFrame DNP CT TG rs3752085 uc002lev.2 MAPK4_uc010xdm.... Hybrid_Cap...
MAPKAPK3 3 50685575 50685575 SKNAS_AUTONOMIC... 37 3'UTR Del A - rs76026164 uc003day.1 MAPKAPK3_uc003d... Hybrid_Cap...
MAPKBP1 15 42111753 42111754 SKNAS_AUTONOMIC... 37 Intron Ins - C rs3034891 uc001zok.3 MAPKBP1_uc001zo... Hybrid_Cap...
MSH3 p.PPA66del 5 79950742 79950750 SKNAS_AUTONOMIC... 37 In_Frame_Del Del CCCCC... - rs60484572;rs1047489 uc003kgz.2 DHFR_uc011ctl.1... Hybrid_Cap...
NCAM1 11 112832307 112832308 SKNAS_AUTONOMIC... 37 5'UTR Ins - A rs117108942 uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCAM1 11 112832340 112832340 SKNAS_AUTONOMIC... 37 5'UTR Del C - uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCAM1 p.Y490H 11 113105805 113105805 SKNAS_AUTONOMIC... 37 Missense_Mutation SNP T C uc009yyq.1 Hybrid_Cap... view
NEK3 p.K313_splice 13 52718050 52718051 SKNAS_AUTONOMIC... 37 Splice_Site_Ins Ins - T rs72514762 uc001vgh.2 NEK3_uc001vgg.2... Hybrid_Cap...
NLRP3 1 247611982 247611982 SKNAS_AUTONOMIC... 37 3'UTR Del C - uc001icr.2 NLRP3_uc001ics.... Hybrid_Cap...
NR1H2 p.176_177insQ 19 50881820 50881821 SKNAS_AUTONOMIC... 37 In_Frame_Ins Ins - AAC rs66783852;rs112359270 uc010enw.2 NR1H2_uc002prv.... Hybrid_Cap...
NRAS p.Q61K 1 115256530 115256530 SKNAS_AUTONOMIC... 37 Missense_Mutation SNP G T uc009wgu.2 Hybrid_Cap... view
NTRK2 9 87285585 87285585 SKNAS_AUTONOMIC... 37 5'UTR SNP A C uc004anz.1 NTRK2_uc004anv.... Hybrid_Cap... view
OBSCN p.G4978D 1 228509475 228509475 SKNAS_AUTONOMIC... 37 Missense_Mutation SNP G A uc009xez.1 OBSCN_uc001hsn.... Hybrid_Cap... view
OBSCN 1 228548644 228548644 SKNAS_AUTONOMIC... 37 Intron SNP C T uc009xez.1 OBSCN_uc001hsn.... Hybrid_Cap... view
PAX3 2 223158653 223158653 SKNAS_AUTONOMIC... 37 Intron Del T - rs112753212 uc002vmt.1 PAX3_uc002vmy.1... Hybrid_Cap...
PDE4DIP p.Q1665fs 1 144873963 144873963 SKNAS_AUTONOMIC... 37 Frame_Shift_Del Del T - uc001elw.3 NBPF10_uc009wir... Hybrid_Cap...
PDE4DIP p.V486fs 1 144917828 144917828 SKNAS_AUTONOMIC... 37 Frame_Shift_Del Del A - uc001elw.3 NBPF10_uc009wir... Hybrid_Cap...
PIK3C2G p.P129del 12 18435399 18435401 SKNAS_AUTONOMIC... 37 In_Frame_Del Del CCC - uc010sib.1 PIK3C2G_uc001rd... Hybrid_Cap...
PMS1 2 190670539 190670540 SKNAS_AUTONOMIC... 37 Intron Ins - A rs3214425 uc002urh.3 PMS1_uc010zga.1... Hybrid_Cap...
PRKD1 14 30046333 30046333 SKNAS_AUTONOMIC... 37 3'UTR SNP C T uc001wqh.2 Hybrid_Cap... view
PRKDC p.L1244fs 8 48805816 48805817 SKNAS_AUTONOMIC... 37 Frame_Shift_Ins Ins - G rs67588121 uc003xqi.2 PRKDC_uc003xqj.... Hybrid_Cap...
RASGRF1 15 79277150 79277151 SKNAS_AUTONOMIC... 37 Intron Ins - C rs67045840;rs77640668 uc002beq.2 RASGRF1_uc002be... Hybrid_Cap...
RB1 p.L477P 13 48954309 48954309 SKNAS_AUTONOMIC... 37 Missense_Mutation SNP T C uc001vcb.2 Hybrid_Cap... view
RECQL4 p.R766fs 8 145738768 145738768 SKNAS_AUTONOMIC... 37 Frame_Shift_Del Del G - uc003zdj.2 Hybrid_Cap...
RPS6KB1 17 58024224 58024225 SKNAS_AUTONOMIC... 37 3'UTR Ins - AA rs67846207 uc002ixy.2 RPS6KB1_uc010dd... Hybrid_Cap...
RPS6KL1 14 75373626 75373627 SKNAS_AUTONOMIC... 37 3'UTR Ins - TGAT uc001xqx.1 RPS6KL1_uc001xq... Hybrid_Cap...
STK31 7 23872024 23872025 SKNAS_AUTONOMIC... 37 3'UTR Ins - TTTG rs66787534 uc003sws.3 STK31_uc003swt.... Hybrid_Cap...
TEC 4 48139307 48139310 SKNAS_AUTONOMIC... 37 3'UTR Del TTAT - rs79098351 uc003gxz.2 Hybrid_Cap...
TNRC6B p.Q1328del 22 40697177 40697179 SKNAS_AUTONOMIC... 37 In_Frame_Del Del GCA - rs114291931 uc011aor.1 TNRC6B_uc003aym... Hybrid_Cap...
TP63 3 189507518 189507519 SKNAS_AUTONOMIC... 37 Intron Ins - AGAG rs62702062;rs79714037 uc003fry.2 TP63_uc003frx.2... Hybrid_Cap...
TRPS1 p.P312S 8 116631391 116631391 SKNAS_AUTONOMIC... 37 Missense_Mutation SNP G A uc003yny.2 TRPS1_uc011lhy.... Hybrid_Cap... view
TRPS1 8 116635872 116635873 SKNAS_AUTONOMIC... 37 5'UTR Ins - A rs76893349 uc003yny.2 TRPS1_uc011lhy.... Hybrid_Cap...
TSC2 16 2138671 2138672 SKNAS_AUTONOMIC... 37 3'UTR Del AA - uc002con.2 TSC2_uc010bsd.2... Hybrid_Cap...
TTN 2 179391639 179391640 SKNAS_AUTONOMIC... 37 3'UTR Ins - T rs36037175 uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap...
TTN p.R22795C 2 179434772 179434772 SKNAS_AUTONOMIC... 37 Missense_Mutation SNP G A uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
VEGFC p.S419_splice 4 177605082 177605084 SKNAS_AUTONOMIC... 37 Splice_Site_Del Del TCA - uc003ius.1 Hybrid_Cap...