Annotation Summary for Cell Line: SK-N-FI  

Cell line primary name: SK-N-FI
Cell line aliases: SK-N-F1
Gender: M
Site Primary: autonomic_ganglia
Histology: neuroblastoma
Hist Subtype1: NS
Notes:
Source: ATCC
Expression arrays: CASED_p_NCLE_RNA4_HG-U133_Plus_2_G02_383638
SNP arrays: FIEFS_p_NCLE_DNA_Affy5_GenomeWideSNP_6_F10_410970
Oncomap: yes
Hybrid Capture Sequencing: yes


Mutations in SK-N-FI

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 SKNFI_AUTONOMIC... 37 In_Frame_Del Del TGT - rs55712143 uc002sfp.2 AAK1_uc010fdk.2... Hybrid_Cap...
ABCC4 p.L1155V 13 95696686 95696686 SKNFI_AUTONOMIC... 37 Missense_Mutation SNP G C uc001vmd.3 ABCC4_uc010afj.... Hybrid_Cap... view
ADAM17 2 9630245 9630245 SKNFI_AUTONOMIC... 37 3'UTR Del T - uc002qzu.2 IAH1_uc010yiz.1... Hybrid_Cap...
ADAM28 8 24211994 24211997 SKNFI_AUTONOMIC... 37 3'UTR Del CTAT - rs10610134 uc003xdy.2 ADAM28_uc011laa... Hybrid_Cap...
AKAP12 p.1531_1532insE 6 151674116 151674117 SKNFI_AUTONOMIC... 37 In_Frame_Ins Ins - GAG rs34737819 uc011eep.1 AKAP12_uc003qoe... Hybrid_Cap...
ALPK3 p.P688Q 15 85383967 85383967 SKNFI_AUTONOMIC... 37 Missense_Mutation SNP C A uc002ble.2 Hybrid_Cap... view
BCR 22 23631813 23631814 SKNFI_AUTONOMIC... 37 Intron Ins - C rs66503844 uc002zww.2 BCR_uc002zwx.2_... Hybrid_Cap...
BCR 22 23632777 23632778 SKNFI_AUTONOMIC... 37 Intron Ins - T uc002zww.2 BCR_uc002zwx.2_... Hybrid_Cap...
BIRC5 17 76219784 76219785 SKNFI_AUTONOMIC... 37 3'UTR Ins - AA uc002jvf.2 BIRC5_uc002jvg.... Hybrid_Cap...
CABC1 1 227171585 227171585 SKNFI_AUTONOMIC... 37 Intron Del T - uc001hqm.1 CABC1_uc001hqn.... Hybrid_Cap...
CACNA1F p.815_815E>EE X 49076224 49076225 SKNFI_AUTONOMIC... 37 In_Frame_Ins Ins - TCC uc004dnb.2 CACNA1F_uc010ni... Hybrid_Cap...
CACNB2 10 18828721 18828722 SKNFI_AUTONOMIC... 37 3'UTR Ins - AA rs3841459 uc001ipr.2 CACNB2_uc009xjz... Hybrid_Cap...
CASP1 p.A208V 11 104901061 104901061 SKNFI_AUTONOMIC... 37 Missense_Mutation SNP G A uc010rve.1 CASP1_uc001pig.... Hybrid_Cap... view
CASP4 p.M184T 11 104820500 104820500 SKNFI_AUTONOMIC... 37 Missense_Mutation SNP A G uc001pid.1 CASP4_uc001pib.... Hybrid_Cap... view
CCNB1 5 68462969 68462969 SKNFI_AUTONOMIC... 37 5'UTR SNP C T uc003jvm.2 CCNB1_uc011crd.... Hybrid_Cap... view
CHIC2 4 54930492 54930492 SKNFI_AUTONOMIC... 37 5'UTR SNP C A uc003haj.1 PDGFRA_uc003haa... Hybrid_Cap... view
CLTCL1 p.V1201_splice 22 19189003 19189004 SKNFI_AUTONOMIC... 37 Splice_Site_Ins Ins - C rs11386977 uc002zpb.2 CLTCL1_uc011agv... Hybrid_Cap...
CLTCL1 22 19196673 19196674 SKNFI_AUTONOMIC... 37 Intron Ins - A uc002zpb.2 CLTCL1_uc011agv... Hybrid_Cap...
CYP2B6 19 41522939 41522940 SKNFI_AUTONOMIC... 37 3'UTR Del AT - uc002opr.1 CYP2A7_uc002opo... Hybrid_Cap...
DNAH8 6 38952247 38952250 SKNFI_AUTONOMIC... 37 Intron Del CACA - uc003ooe.1 DNAH8_uc003oog.... Hybrid_Cap...
DST 6 56468591 56468591 SKNFI_AUTONOMIC... 37 Intron SNP G T uc003pdf.2 DST_uc003pcz.3_... Hybrid_Cap... view
EHBP1 p.S513N 2 63175414 63175414 SKNFI_AUTONOMIC... 37 Missense_Mutation SNP G A uc002sby.2 EHBP1_uc010fcp.... Hybrid_Cap... view
EIF2AK1 p.A232T 7 6084229 6084229 SKNFI_AUTONOMIC... 37 Missense_Mutation SNP C T uc003spp.2 EIF2AK1_uc003sp... Hybrid_Cap... view
EPHA6 3 97467610 97467611 SKNFI_AUTONOMIC... 37 3'UTR Ins - CT uc010how.1 Hybrid_Cap...
ERC1 p.D1055N 12 1553866 1553866 SKNFI_AUTONOMIC... 37 Missense_Mutation SNP G A uc001qjb.2 ERC1_uc001qiz.2... Hybrid_Cap... view
FBN2 5 127595046 127595048 SKNFI_AUTONOMIC... 37 3'UTR Del TTA - uc003kuu.2 Hybrid_Cap...
FGFR3 4 1809128 1809129 SKNFI_AUTONOMIC... 37 3'UTR Del GT - uc003gdu.2 FGFR3_uc003gdr.... Hybrid_Cap...
FLI1 11 128638217 128638217 SKNFI_AUTONOMIC... 37 Intron Del G - uc010sbu.1 FLI1_uc010sbt.1... Hybrid_Cap...
FN1 2 216244182 216244185 SKNFI_AUTONOMIC... 37 Intron Del GTAC - uc002vfa.2 FN1_uc002vfb.2_... Hybrid_Cap...
FSCB p.E107Q 14 44975872 44975872 SKNFI_AUTONOMIC... 37 Missense_Mutation SNP C G uc001wvn.2 Hybrid_Cap... view
GOPC p.Y462del 6 117884418 117884420 SKNFI_AUTONOMIC... 37 In_Frame_Del Del TAA - rs79419780 uc003pxu.2 GOPC_uc003pxq.1... Hybrid_Cap...
GRIA3 X 122318386 122318387 SKNFI_AUTONOMIC... 37 Splice_Site_Ins Ins - G rs66632982 uc004etq.3 GRIA3_uc004etr.... Hybrid_Cap...
GUCY2C 12 14827464 14827466 SKNFI_AUTONOMIC... 37 Intron Del ATC - rs72525754;rs3083879 uc001rcd.2 GUCY2C_uc009zhz... Hybrid_Cap...
HDAC6 X 48683040 48683040 SKNFI_AUTONOMIC... 37 3'UTR SNP C G uc011mmi.1 HDAC6_uc004dks.... Hybrid_Cap... view
HIF1A 14 62213929 62213930 SKNFI_AUTONOMIC... 37 3'UTR Ins - T rs67890419 uc001xfs.2 HIF1A_uc001xfq.... Hybrid_Cap...
ILK 11 6630029 6630029 SKNFI_AUTONOMIC... 37 Intron Del C - uc001mee.2 ILK_uc001mef.2_... Hybrid_Cap...
ITPR2 p.R470_splice 12 26834804 26834805 SKNFI_AUTONOMIC... 37 Splice_Site_Ins Ins - ACTC rs66696203;rs59199365 uc001rhg.2 Hybrid_Cap...
KIAA0802 p.K1114T 18 8824849 8824849 SKNFI_AUTONOMIC... 37 Missense_Mutation SNP A C uc002knr.2 KIAA0802_uc002k... Hybrid_Cap... view
KLK7 19 51480672 51480675 SKNFI_AUTONOMIC... 37 3'UTR Del GGTT - uc002puo.2 KLK7_uc002pup.2... Hybrid_Cap...
MAML3 p.Q767_splice 4 140651585 140651587 SKNFI_AUTONOMIC... 37 Splice_Site_Del Del CTG - uc003ihz.1 MGST2_uc010ioi.... Hybrid_Cap...
MAP3K4 p.A1199del 6 161519351 161519353 SKNFI_AUTONOMIC... 37 In_Frame_Del Del CTG - uc003qtn.2 MAP3K4_uc010kkc... Hybrid_Cap...
MAP3K7 p.M131V 6 91269886 91269886 SKNFI_AUTONOMIC... 37 Missense_Mutation SNP T C uc003pnz.1 MAP3K7_uc003poa... Hybrid_Cap... view
MAPKAPK3 3 50685575 50685575 SKNFI_AUTONOMIC... 37 3'UTR Del A - rs76026164 uc003day.1 MAPKAPK3_uc003d... Hybrid_Cap...
MAST1 19 12969701 12969701 SKNFI_AUTONOMIC... 37 Intron SNP C T uc002mvm.2 MAST1_uc002mvk.... Hybrid_Cap... view
MAST2 p.G1679R 1 46501376 46501376 SKNFI_AUTONOMIC... 37 Missense_Mutation SNP G A uc001cov.2 MAST2_uc001cow.... Hybrid_Cap... view
MECOM 3 169381200 169381201 SKNFI_AUTONOMIC... 37 5'UTR Ins - T uc011bpj.1 MECOM_uc011bpk.... Hybrid_Cap...
MLLT3 9 20346377 20346378 SKNFI_AUTONOMIC... 37 3'UTR Ins - A rs66943046 uc003zoe.2 MLLT3_uc011lne.... Hybrid_Cap...
MSH5 p.V307I 6 31721133 31721133 SKNFI_AUTONOMIC... 37 Missense_Mutation SNP G A uc003nwt.1 MSH5_uc003nwu.1... Hybrid_Cap... view
NCAM1 11 112832307 112832308 SKNFI_AUTONOMIC... 37 5'UTR Ins - A rs117108942 uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCAM1 11 112832340 112832340 SKNFI_AUTONOMIC... 37 5'UTR Del C - uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCOA3 p.1276_1277insQ 20 46279860 46279861 SKNFI_AUTONOMIC... 37 In_Frame_Ins Ins - CAA uc002xtk.2 NCOA3_uc010ght.... Hybrid_Cap...
NEK3 p.K313_splice 13 52718050 52718051 SKNFI_AUTONOMIC... 37 Splice_Site_Ins Ins - T rs72514762 uc001vgh.2 NEK3_uc001vgg.2... Hybrid_Cap...
NIPBL p.R868Q 5 36985885 36985885 SKNFI_AUTONOMIC... 37 Missense_Mutation SNP G A uc003jkl.3 NIPBL_uc003jkk.... Hybrid_Cap... view
NLRP3 1 247611982 247611982 SKNFI_AUTONOMIC... 37 3'UTR Del C - uc001icr.2 NLRP3_uc001ics.... Hybrid_Cap...
NOTCH2 p.G118D 1 120548014 120548014 SKNFI_AUTONOMIC... 37 Missense_Mutation SNP C T uc001eik.2 NOTCH2_uc001eil... Hybrid_Cap... view
NOTCH4 p.15_16LL>L 6 32191659 32191661 SKNFI_AUTONOMIC... 37 In_Frame_Del Del AGC - uc003obb.2 NOTCH4_uc011dpu... Hybrid_Cap...
NPR1 p.R843H 1 153661539 153661539 SKNFI_AUTONOMIC... 37 Missense_Mutation SNP G A rs13306001 uc001fcs.3 NPR1_uc010pdz.1... Hybrid_Cap... view
NPR1 1 153665919 153665920 SKNFI_AUTONOMIC... 37 3'UTR Ins - C rs66682713 uc001fcs.3 NPR1_uc010pdz.1... Hybrid_Cap...
NR1H2 p.176_177insQ 19 50881820 50881821 SKNFI_AUTONOMIC... 37 In_Frame_Ins Ins - AAC rs66783852;rs112359270 uc010enw.2 NR1H2_uc002prv.... Hybrid_Cap...
NTRK3 15 88420022 88420023 SKNFI_AUTONOMIC... 37 3'UTR DNP CA TT uc002bme.1 NTRK3_uc002bmh.... Hybrid_Cap...
NTRK3 p.D499N 15 88576178 88576178 SKNFI_AUTONOMIC... 37 Missense_Mutation SNP C T uc002bme.1 NTRK3_uc002bmh.... Hybrid_Cap... view
NUP210 p.E1273G 3 13376979 13376979 SKNFI_AUTONOMIC... 37 Missense_Mutation SNP T C uc003bxv.1 Hybrid_Cap... view
NUP210 3 13395670 13395670 SKNFI_AUTONOMIC... 37 Intron SNP G A uc003bxv.1 NUP210_uc003bxw... Hybrid_Cap... view
PDE4DIP p.E243fs 1 144923729 144923729 SKNFI_AUTONOMIC... 37 Frame_Shift_Del Del T - uc001elw.3 NBPF10_uc009wir... Hybrid_Cap...
PDGFRA 4 55131002 55131002 SKNFI_AUTONOMIC... 37 Intron Del A - uc003han.3 PDGFRA_uc003haa... Hybrid_Cap...
PIM1 6 37141896 37141897 SKNFI_AUTONOMIC... 37 3'UTR Del TT - uc003onk.2 PIM1_uc011dtw.1... Hybrid_Cap...
PIP4K2A 10 22825887 22825887 SKNFI_AUTONOMIC... 37 3'UTR Del C - uc001irl.3 PIP4K2A_uc010qc... Hybrid_Cap...
PPM1E p.M240I 17 57043191 57043191 SKNFI_AUTONOMIC... 37 Missense_Mutation SNP G A uc002iwx.2 PPM1E_uc010ddd.... Hybrid_Cap... view
PRKCA 17 64298959 64298960 SKNFI_AUTONOMIC... 37 5'UTR Ins - G rs71160558 uc002jfp.1 PRKCA_uc002jfo.... Hybrid_Cap...
PRKDC p.H1459Y 8 48801117 48801117 SKNFI_AUTONOMIC... 37 Missense_Mutation SNP G A uc003xqi.2 PRKDC_uc003xqj.... Hybrid_Cap... view
PRKDC p.L1244fs 8 48805816 48805817 SKNFI_AUTONOMIC... 37 Frame_Shift_Ins Ins - G rs67588121 uc003xqi.2 PRKDC_uc003xqj.... Hybrid_Cap...
RAPGEF2 4 160189200 160189201 SKNFI_AUTONOMIC... 37 5'UTR Ins - T rs72011511 uc003iqg.3 Hybrid_Cap...
RBL1 20 35632029 35632029 SKNFI_AUTONOMIC... 37 Intron Del A - uc002xgi.2 RBL1_uc010zvt.1... Hybrid_Cap...
RECQL4 p.R766fs 8 145738768 145738768 SKNFI_AUTONOMIC... 37 Frame_Shift_Del Del G - uc003zdj.2 Hybrid_Cap...
SMAD7 p.P208P 18 46474797 46474797 SKNFI_AUTONOMIC... 37 Silent SNP G A uc002ldg.2 SMAD7_uc010xde.... Hybrid_Cap... view
STK31 7 23872024 23872025 SKNFI_AUTONOMIC... 37 3'UTR Ins - TTTG rs66787534 uc003sws.3 STK31_uc003swt.... Hybrid_Cap...
TAF1L p.W880R 9 32632940 32632940 SKNFI_AUTONOMIC... 37 Missense_Mutation SNP A G uc003zrg.1 Hybrid_Cap... view
TEC 4 48139307 48139310 SKNFI_AUTONOMIC... 37 3'UTR Del TTAT - rs79098351 uc003gxz.2 Hybrid_Cap...
TNF 6 31543404 31543405 SKNFI_AUTONOMIC... 37 5'UTR Ins - C rs4645838 uc003nui.2 TNF_uc003nuj.2_... Hybrid_Cap...
TNRC6B p.Q1328del 22 40697177 40697179 SKNFI_AUTONOMIC... 37 In_Frame_Del Del GCA - rs114291931 uc011aor.1 TNRC6B_uc003aym... Hybrid_Cap...
TP53 p.M246R 17 7577544 7577544 SKNFI_AUTONOMIC... 37 Missense_Mutation SNP A C uc002gim.2 TP53_uc002gig.1... Hybrid_Cap... view
TSHR 14 81610796 81610796 SKNFI_AUTONOMIC... 37 3'UTR SNP C A uc001xvd.1 Hybrid_Cap... view
TSSK2 p.V94I 22 19119192 19119192 SKNFI_AUTONOMIC... 37 Missense_Mutation SNP G A uc002zow.2 DGCR14_uc002zot... Hybrid_Cap... view
TTN p.I24464V 2 179429765 179429765 SKNFI_AUTONOMIC... 37 Missense_Mutation SNP T C uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
TTN p.R24284H 2 179430304 179430304 SKNFI_AUTONOMIC... 37 Missense_Mutation SNP C T uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
TTN p.E21445D 2 179438820 179438820 SKNFI_AUTONOMIC... 37 Missense_Mutation SNP C G uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
VEGFC p.S419_splice 4 177605082 177605084 SKNFI_AUTONOMIC... 37 Splice_Site_Del Del TCA - uc003ius.1 Hybrid_Cap...
WNT1 p.A18T 12 49372485 49372485 SKNFI_AUTONOMIC... 37 Missense_Mutation SNP G A uc001rsu.2 Hybrid_Cap... view