Annotation Summary for Cell Line: SK-N-DZ  

Cell line primary name: SK-N-DZ
Cell line aliases:
Gender: F
Site Primary: autonomic_ganglia
Histology: neuroblastoma
Hist Subtype1: NS
Notes:
Source: ATCC
Expression arrays: MAKER_p_NCLE_RNA7_HG-U133_Plus_2_H04_454728
SNP arrays: LOBBY_p_NCLE_DNAAffy6_GenomeWideSNP_6_G05_437368
Oncomap: yes
Hybrid Capture Sequencing: yes


Mutations in SK-N-DZ

GeneProtein
Change
ChrStartEnd SampleNCBI
Build
Variant
Classification
Variant TypeReference
Allele
Tumor
Allele 1
dbSNP IDAnnotation
Transcript
Other
Transcripts
Method View
Reads
Mutation
Assessor
AAK1 2 69702913 69702913 SKNDZ_AUTONOMIC... 37 3'UTR SNP T A rs60198736 uc002sfp.2 Hybrid_Cap... view
AAK1 p.541_542QQ>Q 2 69741754 69741756 SKNDZ_AUTONOMIC... 37 In_Frame_Del Del TGT - rs55712143 uc002sfp.2 AAK1_uc010fdk.2... Hybrid_Cap...
ADAM17 2 9630245 9630245 SKNDZ_AUTONOMIC... 37 3'UTR Del T - uc002qzu.2 IAH1_uc010yiz.1... Hybrid_Cap...
ADAM28 8 24211994 24211997 SKNDZ_AUTONOMIC... 37 3'UTR Del CTAT - rs10610134 uc003xdy.2 ADAM28_uc011laa... Hybrid_Cap...
AKAP12 p.1531_1532insE 6 151674116 151674117 SKNDZ_AUTONOMIC... 37 In_Frame_Ins Ins - GAG rs34737819 uc011eep.1 AKAP12_uc003qoe... Hybrid_Cap...
ALPK2 p.EDTST1006del 18 56204388 56204402 SKNDZ_AUTONOMIC... 37 In_Frame_Del Del CAGTT... - rs60644017;rs117623369 uc002lhj.3 ALPK2_uc002lhk.... Hybrid_Cap...
ATR 3 142168652 142168653 SKNDZ_AUTONOMIC... 37 Intron DNP AC GA uc003eux.3 XRN1_uc003eus.2... Hybrid_Cap...
BCL3 19 45262965 45262967 SKNDZ_AUTONOMIC... 37 3'UTR Del CCC - uc010xxe.1 Hybrid_Cap...
BID 22 18256461 18256461 SKNDZ_AUTONOMIC... 37 5'UTR SNP T A uc002znc.1 BID_uc002znd.1_... Hybrid_Cap... view
BIRC6 p.S4151T 2 32768467 32768467 SKNDZ_AUTONOMIC... 37 Missense_Mutation SNP T A uc010ezu.2 Hybrid_Cap... view
BRD2 6 32948607 32948608 SKNDZ_AUTONOMIC... 37 3'UTR Ins - T rs1049414;rs114195059 uc010juh.2 BRD2_uc003ocn.3... Hybrid_Cap...
BTG1 12 92537706 92537707 SKNDZ_AUTONOMIC... 37 3'UTR Ins - T rs33983967 uc001tby.3 BTG1_uc001tbv.1... Hybrid_Cap...
CACNB2 10 18828721 18828722 SKNDZ_AUTONOMIC... 37 3'UTR Ins - AA rs3841459 uc001ipr.2 CACNB2_uc009xjz... Hybrid_Cap...
CD44 p.S293Y 11 35219749 35219749 SKNDZ_AUTONOMIC... 37 Missense_Mutation SNP C A uc001mvu.2 CD44_uc001mvv.2... Hybrid_Cap... view
CDK10 16 89759900 89759900 SKNDZ_AUTONOMIC... 37 Intron SNP C T uc010cio.2 CDK10_uc010cip.... Hybrid_Cap... view
CHL1 3 361373 361373 SKNDZ_AUTONOMIC... 37 5'UTR SNP G T uc003bot.2 CHL1_uc003bou.2... Hybrid_Cap... view
CLTCL1 p.V1201_splice 22 19189003 19189004 SKNDZ_AUTONOMIC... 37 Splice_Site_Ins Ins - C rs11386977 uc002zpb.2 CLTCL1_uc011agv... Hybrid_Cap...
COL18A1 p.PPG1432del 21 46925298 46925306 SKNDZ_AUTONOMIC... 37 In_Frame_Del Del CCCCC... - uc011afs.1 COL18A1_uc002zh... Hybrid_Cap...
COL3A1 p.A719G 2 189864230 189864230 SKNDZ_AUTONOMIC... 37 Missense_Mutation SNP C G uc002uqj.1 Hybrid_Cap... view
CSNK1G2 19 1980415 1980415 SKNDZ_AUTONOMIC... 37 3'UTR SNP C A uc002lul.3 CSNK1G2_uc010ds... Hybrid_Cap... view
CTBP2 p.H981N 10 126678104 126678104 SKNDZ_AUTONOMIC... 37 Missense_Mutation SNP G T uc001lie.3 CTBP2_uc009yak.... Hybrid_Cap... view
CXCL12 10 44873992 44873993 SKNDZ_AUTONOMIC... 37 Intron Ins - CT rs117617571 uc001jbh.2 CXCL12_uc001jbf... Hybrid_Cap...
CYP19A1 p.R288H 15 51507425 51507425 SKNDZ_AUTONOMIC... 37 Missense_Mutation SNP C T uc001zyz.3 CYP19A1_uc001zz... Hybrid_Cap... view
DACH1 13 72014625 72014626 SKNDZ_AUTONOMIC... 37 3'UTR Ins - T rs117109529 uc010thn.1 DACH1_uc010tho.... Hybrid_Cap...
DLC1 8 12990598 12990598 SKNDZ_AUTONOMIC... 37 Intron SNP G A uc003wwm.2 DLC1_uc003wwk.1... Hybrid_Cap... view
EP300 p.R883G 22 41546032 41546032 SKNDZ_AUTONOMIC... 37 Missense_Mutation SNP A G uc003azl.3 Hybrid_Cap... view
EP300 22 41574970 41574972 SKNDZ_AUTONOMIC... 37 3'UTR Del GTA - rs76489032 uc003azl.3 Hybrid_Cap...
EPHA6 3 97367230 97367231 SKNDZ_AUTONOMIC... 37 Intron Ins - A rs115253553 uc010how.1 EPHA6_uc003drs.... Hybrid_Cap...
ERBB3 12 56492444 56492444 SKNDZ_AUTONOMIC... 37 Intron SNP C G uc001sjh.2 ERBB3_uc009zoj.... Hybrid_Cap... view
ETV1 7 14028708 14028708 SKNDZ_AUTONOMIC... 37 5'UTR Del A - rs77190713 uc011jxq.1 ETV1_uc011jxn.1... Hybrid_Cap...
FANCC p.P282_splice 9 97888864 97888864 SKNDZ_AUTONOMIC... 37 Splice_Site_SNP SNP C G uc004avh.2 FANCC_uc004avi.... Hybrid_Cap... view
FBN2 5 127664235 127664235 SKNDZ_AUTONOMIC... 37 Intron SNP C T uc003kuu.2 FBN2_uc003kuv.2... Hybrid_Cap... view
FGFR1OP 6 167453519 167453520 SKNDZ_AUTONOMIC... 37 3'UTR Ins - T rs115519488 uc003qvj.2 CCR6_uc003qvl.2... Hybrid_Cap...
FGFR3 4 1809128 1809129 SKNDZ_AUTONOMIC... 37 3'UTR Del GT - uc003gdu.2 FGFR3_uc003gdr.... Hybrid_Cap...
FMN2 p.PPLPGAGIPPP939del 1 240370914 240370946 SKNDZ_AUTONOMIC... 37 In_Frame_Del Del GCCCC... - rs4997328;rs4997329 uc010pye.1 FMN2_uc010pyd.1... Hybrid_Cap...
GLYATL2 p.V117F 11 58604615 58604615 SKNDZ_AUTONOMIC... 37 Missense_Mutation SNP C A uc001nnd.3 GLYATL2_uc009ym... Hybrid_Cap... view
GRIA3 X 122318386 122318387 SKNDZ_AUTONOMIC... 37 Splice_Site_Ins Ins - G rs66632982 uc004etq.3 GRIA3_uc004etr.... Hybrid_Cap...
GUCY2C 12 14827464 14827466 SKNDZ_AUTONOMIC... 37 Intron Del ATC - rs72525754;rs3083879 uc001rcd.2 GUCY2C_uc009zhz... Hybrid_Cap...
IGF1R p.L360F 15 99440112 99440112 SKNDZ_AUTONOMIC... 37 Missense_Mutation SNP G T uc002bul.2 IGF1R_uc010urq.... Hybrid_Cap... view
ILK 11 6630029 6630029 SKNDZ_AUTONOMIC... 37 Intron Del C - uc001mee.2 ILK_uc001mef.2_... Hybrid_Cap...
ITPR2 p.R470_splice 12 26834804 26834805 SKNDZ_AUTONOMIC... 37 Splice_Site_Ins Ins - ACTC rs66696203;rs59199365 uc001rhg.2 Hybrid_Cap...
KIAA1549 p.P1759L 7 138536987 138536987 SKNDZ_AUTONOMIC... 37 Missense_Mutation SNP G A uc011kql.1 KIAA1549_uc011k... Hybrid_Cap... view
LATS2 13 21548948 21548948 SKNDZ_AUTONOMIC... 37 3'UTR SNP G C uc009zzs.2 LATS2_uc001unr.... Hybrid_Cap... view
LATS2 13 21620222 21620223 SKNDZ_AUTONOMIC... 37 5'UTR Ins - A rs61240127;rs115723063 uc009zzs.2 LATS2_uc001unr.... Hybrid_Cap...
LCK p.V167I 1 32741532 32741532 SKNDZ_AUTONOMIC... 37 Missense_Mutation SNP G A uc001buz.2 LCK_uc001bux.2_... Hybrid_Cap... view
LMO1 p.R75* 11 8251854 8251854 SKNDZ_AUTONOMIC... 37 Nonsense_Mutation SNP G A uc001mgg.1 LMO1_uc009yfo.1... Hybrid_Cap... view
LYN p.V274L 8 56879303 56879303 SKNDZ_AUTONOMIC... 37 Missense_Mutation SNP G T uc003xsk.3 LYN_uc003xsl.3_... Hybrid_Cap... view
MAML3 p.Q767_splice 4 140651585 140651587 SKNDZ_AUTONOMIC... 37 Splice_Site_Del Del CTG - uc003ihz.1 MGST2_uc010ioi.... Hybrid_Cap...
MAP2K1 15 66679649 66679650 SKNDZ_AUTONOMIC... 37 5'UTR Ins - C rs67229745 uc010bhq.2 Hybrid_Cap...
MAP3K1 p.T949del 5 56177849 56177851 SKNDZ_AUTONOMIC... 37 In_Frame_Del Del CAA - uc003jqw.3 Hybrid_Cap...
MAP3K13 p.G315D 3 185165669 185165669 SKNDZ_AUTONOMIC... 37 Missense_Mutation SNP G A uc010hyf.2 MAP3K13_uc011br... Hybrid_Cap... view
MAP3K14 p.R218_splice 17 43364293 43364294 SKNDZ_AUTONOMIC... 37 Splice_Site_Ins Ins - G rs66766023 uc002iiw.1 MAP3K14_uc010da... Hybrid_Cap...
MAP3K2 p.T522M 2 128066230 128066230 SKNDZ_AUTONOMIC... 37 Missense_Mutation SNP G A uc002toj.1 Hybrid_Cap... view
MYH11 16 15808662 15808662 SKNDZ_AUTONOMIC... 37 Intron SNP C T uc002ddx.2 MYH11_uc002ddv.... Hybrid_Cap... view
MYST4 p.E1104del 10 76781906 76781908 SKNDZ_AUTONOMIC... 37 In_Frame_Del Del GAA - rs79644703 uc001jwn.1 MYST4_uc001jwm.... Hybrid_Cap...
NCAM1 11 112832307 112832308 SKNDZ_AUTONOMIC... 37 5'UTR Ins - A rs117108942 uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCAM1 11 112832340 112832340 SKNDZ_AUTONOMIC... 37 5'UTR Del C - uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCOA3 p.Q1276del 20 46279837 46279839 SKNDZ_AUTONOMIC... 37 In_Frame_Del Del CAG - rs2664555 uc002xtk.2 NCOA3_uc010ght.... Hybrid_Cap...
NCOA3 20 46282339 46282340 SKNDZ_AUTONOMIC... 37 3'UTR Ins - AT uc002xtk.2 NCOA3_uc002xtl.... Hybrid_Cap...
NEK3 p.K313_splice 13 52718050 52718051 SKNDZ_AUTONOMIC... 37 Splice_Site_Ins Ins - T rs72514762 uc001vgh.2 NEK3_uc001vgg.2... Hybrid_Cap...
NEK3 p.I290F 13 52718122 52718122 SKNDZ_AUTONOMIC... 37 Missense_Mutation SNP T A uc001vgh.2 NEK3_uc001vgg.2... Hybrid_Cap... view
NEK3 p.S248F 13 52718950 52718950 SKNDZ_AUTONOMIC... 37 Missense_Mutation SNP G A uc001vgh.2 NEK3_uc001vgg.2... Hybrid_Cap... view
NFATC1 18 77287653 77287654 SKNDZ_AUTONOMIC... 37 3'UTR Del AA - uc010xfg.1 NFATC1_uc002lnd... Hybrid_Cap...
NPM1 5 170837734 170837734 SKNDZ_AUTONOMIC... 37 3'UTR Del T - uc011dex.1 NPM1_uc003mbi.2... Hybrid_Cap...
NPR1 1 153665919 153665920 SKNDZ_AUTONOMIC... 37 3'UTR Ins - C rs66682713 uc001fcs.3 NPR1_uc010pdz.1... Hybrid_Cap...
NR1H2 p.176_177insQ 19 50881822 50881823 SKNDZ_AUTONOMIC... 37 In_Frame_Ins Ins - CAG rs61751954;rs1052533 uc010enw.2 NR1H2_uc002prv.... Hybrid_Cap...
NUMA1 p.Q1550_splice 11 71723446 71723448 SKNDZ_AUTONOMIC... 37 Splice_Site_Del Del CCT - uc001orl.1 NUMA1_uc009ysw.... Hybrid_Cap...
OR2L13 p.G15C 1 248262720 248262720 SKNDZ_AUTONOMIC... 37 Missense_Mutation SNP G T uc001ids.2 Hybrid_Cap... view
PAX3 2 223066017 223066018 SKNDZ_AUTONOMIC... 37 Intron Ins - C rs115619343 uc002vmt.1 PAX3_uc002vmy.1... Hybrid_Cap...
PAX3 2 223158653 223158653 SKNDZ_AUTONOMIC... 37 Intron Del T - rs112753212 uc002vmt.1 PAX3_uc002vmy.1... Hybrid_Cap...
PGGT1B 5 114548071 114548072 SKNDZ_AUTONOMIC... 37 3'UTR Ins - C uc003kqw.3 PGGT1B_uc003kqx... Hybrid_Cap...
PIK3C2G p.P129del 12 18435399 18435401 SKNDZ_AUTONOMIC... 37 In_Frame_Del Del CCC - uc010sib.1 PIK3C2G_uc001rd... Hybrid_Cap...
PIK3R1 5 67586720 67586720 SKNDZ_AUTONOMIC... 37 Intron SNP G A uc003jva.2 PIK3R1_uc003jvb... Hybrid_Cap... view
PMS2 p.Q402K 7 6027192 6027192 SKNDZ_AUTONOMIC... 37 Missense_Mutation SNP G T uc003spl.2 PMS2_uc003spj.2... Hybrid_Cap... view
PRKDC p.L1244fs 8 48805816 48805817 SKNDZ_AUTONOMIC... 37 Frame_Shift_Ins Ins - G rs67588121 uc003xqi.2 PRKDC_uc003xqj.... Hybrid_Cap...
PRKG2 p.R518C 4 82058629 82058629 SKNDZ_AUTONOMIC... 37 Missense_Mutation SNP G A uc003hmh.2 PRKG2_uc011ccf.... Hybrid_Cap... view
PSEN1 14 73640564 73640564 SKNDZ_AUTONOMIC... 37 Intron SNP G A uc001xnr.2 PSEN1_uc001xnv.... Hybrid_Cap... view
RAPGEF2 4 160189200 160189201 SKNDZ_AUTONOMIC... 37 5'UTR Ins - T rs72011511 uc003iqg.3 Hybrid_Cap...
RECQL4 p.R766fs 8 145738768 145738768 SKNDZ_AUTONOMIC... 37 Frame_Shift_Del Del G - uc003zdj.2 Hybrid_Cap...
RPS6KA5 14 91360733 91360734 SKNDZ_AUTONOMIC... 37 Intron Ins - T rs77438853 uc001xys.2 RPS6KA5_uc010tw... Hybrid_Cap...
SHH p.R34K 7 155604716 155604716 SKNDZ_AUTONOMIC... 37 Missense_Mutation SNP C T uc003wmk.1 SHH_uc003wmh.1_... Hybrid_Cap... view
SIK2 p.DPAHAFEAF465del 11 111590625 111590651 SKNDZ_AUTONOMIC... 37 In_Frame_Del Del GACCC... - uc001plt.2 Hybrid_Cap...
SOX10 22 38379354 38379354 SKNDZ_AUTONOMIC... 37 Intron SNP G C uc003aun.1 POLR2F_uc003aum... Hybrid_Cap... view
STK25 2 242435659 242435662 SKNDZ_AUTONOMIC... 37 Intron Del AAGG - rs3215138;rs75497042 uc002wbm.2 STK25_uc002wbk.... Hybrid_Cap...
STK31 7 23872024 23872025 SKNDZ_AUTONOMIC... 37 3'UTR Ins - TTTG rs66787534 uc003sws.3 STK31_uc003swt.... Hybrid_Cap...
TET2 p.R144H 4 106155467 106155467 SKNDZ_AUTONOMIC... 37 Missense_Mutation SNP G A uc011cez.1 TET2_uc003hxk.2... Hybrid_Cap... view
TLK1 2 171850178 171850179 SKNDZ_AUTONOMIC... 37 3'UTR Ins - AA rs71008739 uc002ugo.2 TLK1_uc002ugn.2... Hybrid_Cap...
TNF p.Q225K 6 31545285 31545285 SKNDZ_AUTONOMIC... 37 Missense_Mutation SNP C A uc003nui.2 TNF_uc003nuj.2_... Hybrid_Cap... view
TNFRSF12A 16 3071939 3071939 SKNDZ_AUTONOMIC... 37 3'UTR SNP G C uc002csv.3 TNFRSF12A_uc002... Hybrid_Cap... view
TNKS2 10 93622951 93622959 SKNDZ_AUTONOMIC... 37 3'UTR Del GTTTT... - rs115539654 uc001khp.2 Hybrid_Cap...
TRIM33 1 114940211 114940212 SKNDZ_AUTONOMIC... 37 3'UTR Ins - T rs66490349 uc001eew.2 TRIM33_uc010owr... Hybrid_Cap...
TRPS1 8 116635872 116635873 SKNDZ_AUTONOMIC... 37 5'UTR Ins - A rs76893349 uc003yny.2 TRPS1_uc011lhy.... Hybrid_Cap...
TTBK1 p.E771del 6 43250726 43250728 SKNDZ_AUTONOMIC... 37 In_Frame_Del Del GAA - uc003ouq.1 Hybrid_Cap...
TTN 2 179391639 179391640 SKNDZ_AUTONOMIC... 37 3'UTR Ins - T rs36037175 uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap...
UBE3B p.P918H 12 109967820 109967820 SKNDZ_AUTONOMIC... 37 Missense_Mutation SNP C A uc001top.2 UBE3B_uc001toq.... Hybrid_Cap... view
VEGFC p.S419_splice 4 177605082 177605084 SKNDZ_AUTONOMIC... 37 Splice_Site_Del Del TCA - uc003ius.1 Hybrid_Cap...
WHSC1 p.G945fs 4 1957868 1957869 SKNDZ_AUTONOMIC... 37 Frame_Shift_Ins Ins - C uc003gdz.3 WHSC1_uc003geb.... Hybrid_Cap...