Annotation Summary for Cell Line: SK-N-SH  

Cell line primary name: SK-N-SH
Cell line aliases:
Gender: F
Site Primary: autonomic_ganglia
Histology: neuroblastoma
Hist Subtype1: NS
Notes: Identical lines: SH-SY5Y is a subclone derived from SK-N-SH and is identical to LAN-5
Source: ATCC
Expression arrays: BUNDS_p_NCLE_RNA5_HG-U133_Plus_2_F07_419790
SNP arrays: BOWER_p_NCLE_DNAAffy8_GenomeWideSNP_6_B02_464602
Oncomap: yes
Hybrid Capture Sequencing: yes


Mutations in SK-N-SH

GeneProtein
Change
ChrStartEnd SampleNCBI
Build
Variant
Classification
Variant TypeReference
Allele
Tumor
Allele 1
dbSNP IDAnnotation
Transcript
Other
Transcripts
Method View
Reads
Mutation
Assessor
ACACA 17 35766564 35766564 SKNSH_AUTONOMIC... 37 5'UTR Del A - uc002hno.2 ACACA_uc002hnn.... Hybrid_Cap...
ADAM17 2 9630245 9630245 SKNSH_AUTONOMIC... 37 3'UTR Del T - uc002qzu.2 IAH1_uc010yiz.1... Hybrid_Cap...
ADAM28 8 24211994 24211997 SKNSH_AUTONOMIC... 37 3'UTR Del CTAT - rs10610134 uc003xdy.2 ADAM28_uc011laa... Hybrid_Cap...
AKAP12 p.1531_1532insE 6 151674116 151674117 SKNSH_AUTONOMIC... 37 In_Frame_Ins Ins - GAG rs34737819 uc011eep.1 AKAP12_uc003qoe... Hybrid_Cap...
AKAP9 p.1335_1336insQ 7 91652178 91652179 SKNSH_AUTONOMIC... 37 In_Frame_Ins Ins - AAC rs34756483 uc003ulg.2 AKAP9_uc003ule.... Hybrid_Cap...
ALPK1 4 113347609 113347610 SKNSH_AUTONOMIC... 37 Intron Ins - T rs68137453 uc003iap.3 ALPK1_uc003ian.... Hybrid_Cap...
AMZ2 17 66246229 66246229 SKNSH_AUTONOMIC... 37 Intron SNP T A uc002jgs.1 AMZ2_uc002jgr.1... Hybrid_Cap... view
ARID1A p.G1254G 1 27099883 27099883 SKNSH_AUTONOMIC... 37 Silent SNP C T uc001bmv.1 ARID1A_uc001bmt... Hybrid_Cap... view
AXIN1 p.V827A 16 338231 338231 SKNSH_AUTONOMIC... 37 Missense_Mutation SNP A G uc002cgp.1 AXIN1_uc002cgq.... Hybrid_Cap... view
AXL 19 41749740 41749740 SKNSH_AUTONOMIC... 37 Intron SNP C T uc010ehj.2 CYP2F1_uc010xvw... Hybrid_Cap... view
CASP10 p.S296F 2 202072871 202072871 SKNSH_AUTONOMIC... 37 Missense_Mutation SNP C T uc002uxj.1 CASP10_uc010zhn... Hybrid_Cap... view
CDK17 12 96673965 96673965 SKNSH_AUTONOMIC... 37 3'UTR SNP A G uc001tep.1 Hybrid_Cap... view
CHD1 p.P1684del 5 98192165 98192167 SKNSH_AUTONOMIC... 37 In_Frame_Del Del AGG - rs79267787;rs61749618 uc003knf.2 CHD1_uc010jbn.2... Hybrid_Cap...
CHD9 p.R2570I 16 53352248 53352248 SKNSH_AUTONOMIC... 37 Missense_Mutation SNP G T uc002ehb.2 CHD9_uc002egy.2... Hybrid_Cap... view
CHEK2 p.T410fs 22 29091857 29091857 SKNSH_AUTONOMIC... 37 Frame_Shift_Del Del G - uc003adt.1 CHEK2_uc003ads.... Hybrid_Cap...
CLTCL1 p.V1201_splice 22 19189003 19189004 SKNSH_AUTONOMIC... 37 Splice_Site_Ins Ins - C rs11386977 uc002zpb.2 CLTCL1_uc011agv... Hybrid_Cap...
CTBP2 p.K974fs 10 126678123 126678123 SKNSH_AUTONOMIC... 37 Frame_Shift_Del Del T - uc001lie.3 CTBP2_uc009yak.... Hybrid_Cap...
CXCL12 10 44873992 44873993 SKNSH_AUTONOMIC... 37 Intron Ins - CT rs117617571 uc001jbh.2 CXCL12_uc001jbf... Hybrid_Cap...
DNAH8 p.Q578* 6 38750903 38750903 SKNSH_AUTONOMIC... 37 Nonsense_Mutation SNP C T uc003ooe.1 Hybrid_Cap... view
EPHA6 3 97367230 97367231 SKNSH_AUTONOMIC... 37 Intron Ins - A rs115253553 uc010how.1 EPHA6_uc003drs.... Hybrid_Cap...
ETV1 7 14028708 14028708 SKNSH_AUTONOMIC... 37 5'UTR Del A - rs77190713 uc011jxq.1 ETV1_uc011jxn.1... Hybrid_Cap...
FGFR1OP 6 167453519 167453520 SKNSH_AUTONOMIC... 37 3'UTR Ins - T rs115519488 uc003qvj.2 CCR6_uc003qvl.2... Hybrid_Cap...
FLI1 11 128638217 128638217 SKNSH_AUTONOMIC... 37 Intron Del G - uc010sbu.1 FLI1_uc010sbt.1... Hybrid_Cap...
GRIA3 X 122318386 122318387 SKNSH_AUTONOMIC... 37 Splice_Site_Ins Ins - G rs66632982 uc004etq.3 GRIA3_uc004etr.... Hybrid_Cap...
GUCY2C 12 14827464 14827466 SKNSH_AUTONOMIC... 37 Intron Del ATC - rs72525754;rs3083879 uc001rcd.2 GUCY2C_uc009zhz... Hybrid_Cap...
HSP90B1 p.E791del 12 104341188 104341190 SKNSH_AUTONOMIC... 37 In_Frame_Del Del GAA - rs117491163 uc001tkb.1 HSP90B1_uc010sw... Hybrid_Cap...
ILK 11 6630029 6630029 SKNSH_AUTONOMIC... 37 Intron Del C - uc001mee.2 ILK_uc001mef.2_... Hybrid_Cap...
ITPR2 p.R470_splice 12 26834804 26834805 SKNSH_AUTONOMIC... 37 Splice_Site_Ins Ins - ACTC rs66696203;rs59199365 uc001rhg.2 Hybrid_Cap...
JUND p.I269M 19 18391488 18391488 SKNSH_AUTONOMIC... 37 Missense_Mutation SNP G C uc002nip.2 Hybrid_Cap... view
LETM2 8 38265796 38265798 SKNSH_AUTONOMIC... 37 3'UTR Del ACT - uc003xlm.1 LETM2_uc003xll.... Hybrid_Cap...
LRRK1 p.A95T 15 101523754 101523754 SKNSH_AUTONOMIC... 37 Missense_Mutation SNP G A uc002bwr.2 LRRK1_uc010usb.... Hybrid_Cap... view
MAF 16 79628537 79628537 SKNSH_AUTONOMIC... 37 Intron Del T - uc002ffm.2 MAF_uc002ffn.2_... Hybrid_Cap...
MAML3 p.Q767_splice 4 140651585 140651587 SKNSH_AUTONOMIC... 37 Splice_Site_Del Del CTG - uc003ihz.1 MGST2_uc010ioi.... Hybrid_Cap...
MAP3K14 p.R218_splice 17 43364293 43364294 SKNSH_AUTONOMIC... 37 Splice_Site_Ins Ins - G rs66766023 uc002iiw.1 MAP3K14_uc010da... Hybrid_Cap...
MLL3 p.P2467R 7 151876961 151876961 SKNSH_AUTONOMIC... 37 Missense_Mutation SNP G C uc003wla.2 MLL3_uc003wkz.2... Hybrid_Cap... view
MLLT10 p.S842F 10 22022502 22022502 SKNSH_AUTONOMIC... 37 Missense_Mutation SNP C T uc001iqs.2 MLLT10_uc001iqt... Hybrid_Cap... view
MPL p.R199S 1 43805147 43805147 SKNSH_AUTONOMIC... 37 Missense_Mutation SNP G C uc001ciw.2 MPL_uc001civ.2_... Hybrid_Cap... view
MTMR11 1 149900985 149900986 SKNSH_AUTONOMIC... 37 3'UTR Ins - A rs114426061 uc001etl.3 SF3B4_uc001etj.... Hybrid_Cap...
MYO18B p.V618V 22 26168462 26168462 SKNSH_AUTONOMIC... 37 Silent SNP G A uc003abz.1 MYO18B_uc003aca... Hybrid_Cap... view
MYST3 p.K198R 8 41905903 41905903 SKNSH_AUTONOMIC... 37 Missense_Mutation SNP T C uc010lxb.2 MYST3_uc010lxc.... Hybrid_Cap... view
NCAM1 11 112832307 112832308 SKNSH_AUTONOMIC... 37 5'UTR Ins - A rs117108942 uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCAM1 11 112832340 112832340 SKNSH_AUTONOMIC... 37 5'UTR Del C - uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCOA3 20 46282339 46282340 SKNSH_AUTONOMIC... 37 3'UTR Ins - AT uc002xtk.2 NCOA3_uc002xtl.... Hybrid_Cap...
NEK3 p.K313_splice 13 52718050 52718051 SKNSH_AUTONOMIC... 37 Splice_Site_Ins Ins - T rs72514762 uc001vgh.2 NEK3_uc001vgg.2... Hybrid_Cap...
NLRP3 1 247611982 247611982 SKNSH_AUTONOMIC... 37 3'UTR Del C - uc001icr.2 NLRP3_uc001ics.... Hybrid_Cap...
NPM1 5 170837734 170837734 SKNSH_AUTONOMIC... 37 3'UTR Del T - uc011dex.1 NPM1_uc003mbi.2... Hybrid_Cap...
NPR1 1 153665919 153665920 SKNSH_AUTONOMIC... 37 3'UTR Ins - C rs66682713 uc001fcs.3 NPR1_uc010pdz.1... Hybrid_Cap...
NR1H2 p.176_177insQ 19 50881822 50881823 SKNSH_AUTONOMIC... 37 In_Frame_Ins Ins - CAG rs61751954;rs1052533 uc010enw.2 NR1H2_uc002prv.... Hybrid_Cap...
NRAS p.Q61K 1 115256530 115256530 SKNSH_AUTONOMIC... 37 Missense_Mutation SNP G T uc009wgu.2 Hybrid_Cap... view
NUP153 p.P433L 6 17661981 17661981 SKNSH_AUTONOMIC... 37 Missense_Mutation SNP G A uc011dje.1 NUP153_uc003ncd... Hybrid_Cap... view
PCDH15 p.P1049S 10 55700728 55700728 SKNSH_AUTONOMIC... 37 Missense_Mutation SNP G A uc010qhy.1 PCDH15_uc010qhq... Hybrid_Cap... view
PCM1 8 17813249 17813249 SKNSH_AUTONOMIC... 37 Intron SNP C T uc003wyi.3 PCM1_uc011kyh.1... Hybrid_Cap... view
PDGFRA 4 55131002 55131002 SKNSH_AUTONOMIC... 37 Intron Del A - uc003han.3 PDGFRA_uc003haa... Hybrid_Cap...
PGGT1B 5 114548071 114548072 SKNSH_AUTONOMIC... 37 3'UTR Ins - C uc003kqw.3 PGGT1B_uc003kqx... Hybrid_Cap...
PGR 11 100933598 100933599 SKNSH_AUTONOMIC... 37 Intron Ins - AATGA rs35148438 uc001pgh.2 PGR_uc001pgg.2_... Hybrid_Cap...
PIK3C2G p.P129del 12 18435399 18435401 SKNSH_AUTONOMIC... 37 In_Frame_Del Del CCC - uc010sib.1 PIK3C2G_uc001rd... Hybrid_Cap...
PIK3C2G 12 18800990 18800990 SKNSH_AUTONOMIC... 37 3'UTR Del A - rs16914368 uc010sib.1 PIK3C2G_uc001rd... Hybrid_Cap...
PLCG1 p.F1172I 20 39802411 39802411 SKNSH_AUTONOMIC... 37 Missense_Mutation SNP T A uc002xjo.1 PLCG1_uc002xjp.... Hybrid_Cap... view
PRKDC p.L1244fs 8 48805816 48805817 SKNSH_AUTONOMIC... 37 Frame_Shift_Ins Ins - G rs67588121 uc003xqi.2 PRKDC_uc003xqj.... Hybrid_Cap...
RPS6KL1 14 75373626 75373627 SKNSH_AUTONOMIC... 37 3'UTR Ins - TGAT uc001xqx.1 RPS6KL1_uc001xq... Hybrid_Cap...
SACS p.H1260Y 13 23914237 23914237 SKNSH_AUTONOMIC... 37 Missense_Mutation SNP G A uc001uon.2 SACS_uc001uoo.2... Hybrid_Cap... view
SMARCA4 p.R973W 19 11134251 11134251 SKNSH_AUTONOMIC... 37 Missense_Mutation SNP C T uc010dxo.2 SMARCA4_uc002mq... Hybrid_Cap... view
STK31 7 23872024 23872025 SKNSH_AUTONOMIC... 37 3'UTR Ins - TTTG rs66787534 uc003sws.3 STK31_uc003swt.... Hybrid_Cap...
TLK1 2 171850178 171850179 SKNSH_AUTONOMIC... 37 3'UTR Ins - AA rs71008739 uc002ugo.2 TLK1_uc002ugn.2... Hybrid_Cap...
TRPS1 8 116635872 116635873 SKNSH_AUTONOMIC... 37 5'UTR Ins - A rs76893349 uc003yny.2 TRPS1_uc011lhy.... Hybrid_Cap...
VEGFC p.S419_splice 4 177605082 177605084 SKNSH_AUTONOMIC... 37 Splice_Site_Del Del TCA - uc003ius.1 Hybrid_Cap...
WHSC1 p.G945fs 4 1957868 1957869 SKNSH_AUTONOMIC... 37 Frame_Shift_Ins Ins - C uc003gdz.3 WHSC1_uc003geb.... Hybrid_Cap...