Annotation Summary for Cell Line: SKM-1  

Cell line primary name: SKM-1
Cell line aliases:
Gender: M
Site Primary: haematopoietic_and_lymphoid_tissue
Histology: haematopoietic_neoplasm
Hist Subtype1: acute_myeloid_leukaemia
Notes:
Source: HSRRB
Expression arrays: MAKER_p_NCLE_RNA7_HG-U133_Plus_2_B06_454594
SNP arrays: BOWER_p_NCLE_DNAAffy8_GenomeWideSNP_6_H04_464638
Oncomap: yes
Hybrid Capture Sequencing: yes


Mutations in SKM-1

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 SKM1_HAEMATOPOI... 37 In_Frame_Del Del TGT - rs55712143 uc002sfp.2 AAK1_uc010fdk.2... Hybrid_Cap...
ACACA 17 35766564 35766564 SKM1_HAEMATOPOI... 37 5'UTR Del A - uc002hno.2 ACACA_uc002hnn.... Hybrid_Cap...
ADAM28 8 24211994 24211997 SKM1_HAEMATOPOI... 37 3'UTR Del CTAT - rs10610134 uc003xdy.2 ADAM28_uc011laa... Hybrid_Cap...
ADAMTSL3 p.A137T 15 84488608 84488608 SKM1_HAEMATOPOI... 37 Missense_Mutation SNP G A uc002bjz.3 ADAMTSL3_uc002b... Hybrid_Cap... view
AKAP12 p.1531_1532insE 6 151674116 151674117 SKM1_HAEMATOPOI... 37 In_Frame_Ins Ins - GAG rs34737819 uc011eep.1 AKAP12_uc003qoe... Hybrid_Cap...
AKAP6 p.L760fs 14 33016139 33016139 SKM1_HAEMATOPOI... 37 Frame_Shift_Del Del A - uc001wrq.2 AKAP6_uc010aml.... Hybrid_Cap...
ALPK1 4 113347609 113347610 SKM1_HAEMATOPOI... 37 Intron Ins - T rs68137453 uc003iap.3 ALPK1_uc003ian.... Hybrid_Cap...
ALPK2 p.EDTST1006del 18 56204388 56204402 SKM1_HAEMATOPOI... 37 In_Frame_Del Del CAGTT... - rs60644017;rs117623369 uc002lhj.3 ALPK2_uc002lhk.... Hybrid_Cap...
ASPH p.A264_splice 8 62550924 62550925 SKM1_HAEMATOPOI... 37 Splice_Site_Ins Ins - A rs5891816 uc003xuj.2 ASPH_uc011leg.1... Hybrid_Cap...
AURKC 19 57742494 57742507 SKM1_HAEMATOPOI... 37 5'UTR Del GGACG... - rs67926438;rs112039303;rs59094959 uc002qoe.2 AURKC_uc002qoc.... Hybrid_Cap...
CACNB2 10 18828721 18828722 SKM1_HAEMATOPOI... 37 3'UTR Ins - AA rs3841459 uc001ipr.2 CACNB2_uc009xjz... Hybrid_Cap...
CBFA2T3 p.P329L 16 88951585 88951585 SKM1_HAEMATOPOI... 37 Missense_Mutation SNP G A uc002fmm.1 CBFA2T3_uc002fm... Hybrid_Cap... view
CDK11B 1 1654066 1654068 SKM1_HAEMATOPOI... 37 Intron Del GCG - uc001agv.1 CDK11B_uc001aha... Hybrid_Cap...
CHRNA5 15 78885615 78885616 SKM1_HAEMATOPOI... 37 3'UTR Ins - TA rs72534078 uc002bdy.2 CHRNA3_uc002bea... Hybrid_Cap...
CLTCL1 p.V1201_splice 22 19189003 19189004 SKM1_HAEMATOPOI... 37 Splice_Site_Ins Ins - C rs11386977 uc002zpb.2 CLTCL1_uc011agv... Hybrid_Cap...
CREB3L2 p.T100del 7 137612914 137612916 SKM1_HAEMATOPOI... 37 In_Frame_Del Del TGG - uc003vtw.2 CREB3L2_uc003vt... Hybrid_Cap...
CTBP2 p.K974fs 10 126678123 126678123 SKM1_HAEMATOPOI... 37 Frame_Shift_Del Del T - uc001lie.3 CTBP2_uc009yak.... Hybrid_Cap...
CXCL12 10 44873992 44873993 SKM1_HAEMATOPOI... 37 Intron Ins - CT rs117617571 uc001jbh.2 CXCL12_uc001jbf... Hybrid_Cap...
DACH1 13 72014625 72014626 SKM1_HAEMATOPOI... 37 3'UTR Ins - T rs117109529 uc010thn.1 DACH1_uc010tho.... Hybrid_Cap...
DGKB 7 14216345 14216346 SKM1_HAEMATOPOI... 37 Intron Ins - AGACT uc003ssz.2 DGKB_uc011jxt.1... Hybrid_Cap...
DST p.T1106I 6 56499338 56499338 SKM1_HAEMATOPOI... 37 Missense_Mutation SNP G A uc003pdf.2 DST_uc003pcz.3_... Hybrid_Cap... view
EDN1 6 12290729 12290729 SKM1_HAEMATOPOI... 37 5'UTR Del A - uc003nae.3 EDN1_uc010jpb.2... Hybrid_Cap...
EPHA6 3 97367230 97367231 SKM1_HAEMATOPOI... 37 Intron Ins - A rs115253553 uc010how.1 EPHA6_uc003drs.... Hybrid_Cap...
ETV1 7 14028708 14028708 SKM1_HAEMATOPOI... 37 5'UTR Del A - rs77190713 uc011jxq.1 ETV1_uc011jxn.1... Hybrid_Cap...
FBXW7 p.E489D 4 153247335 153247335 SKM1_HAEMATOPOI... 37 Missense_Mutation SNP C G uc003ims.2 FBXW7_uc011cii.... Hybrid_Cap... view
FGFR1OP 6 167453519 167453520 SKM1_HAEMATOPOI... 37 3'UTR Ins - T rs115519488 uc003qvj.2 CCR6_uc003qvl.2... Hybrid_Cap...
FGFR3 4 1809128 1809129 SKM1_HAEMATOPOI... 37 3'UTR Del GT - uc003gdu.2 FGFR3_uc003gdr.... Hybrid_Cap...
FMN2 p.PPLPGAGIPPP939del 1 240370914 240370946 SKM1_HAEMATOPOI... 37 In_Frame_Del Del GCCCC... - rs4997328;rs4997329 uc010pye.1 FMN2_uc010pyd.1... Hybrid_Cap...
FN1 2 216244182 216244185 SKM1_HAEMATOPOI... 37 Intron Del GTAC - uc002vfa.2 FN1_uc002vfb.2_... Hybrid_Cap...
GPR112 p.D2657del X 135474445 135474447 SKM1_HAEMATOPOI... 37 In_Frame_Del Del GAT - rs3030295 uc004ezu.1 GPR112_uc010nsb... Hybrid_Cap...
GRIA3 X 122318386 122318387 SKM1_HAEMATOPOI... 37 Splice_Site_Ins Ins - G rs66632982 uc004etq.3 GRIA3_uc004etr.... Hybrid_Cap...
GUCY2C 12 14827464 14827466 SKM1_HAEMATOPOI... 37 Intron Del ATC - rs72525754;rs3083879 uc001rcd.2 GUCY2C_uc009zhz... Hybrid_Cap...
HSP90B1 p.E791del 12 104341188 104341190 SKM1_HAEMATOPOI... 37 In_Frame_Del Del GAA - rs117491163 uc001tkb.1 HSP90B1_uc010sw... Hybrid_Cap...
ILK 11 6630029 6630029 SKM1_HAEMATOPOI... 37 Intron Del C - uc001mee.2 ILK_uc001mef.2_... Hybrid_Cap...
KRAS p.K117N 12 25378647 25378647 SKM1_HAEMATOPOI... 37 Missense_Mutation SNP T G uc001rgp.1 KRAS_uc001rgq.1... Hybrid_Cap... view
KSR1 p.C373F 17 25928937 25928937 SKM1_HAEMATOPOI... 37 Missense_Mutation SNP G T uc010crg.2 KSR1_uc002gzj.1... Hybrid_Cap... view
LATS2 13 21620222 21620223 SKM1_HAEMATOPOI... 37 5'UTR Ins - A rs61240127;rs115723063 uc009zzs.2 LATS2_uc001unr.... Hybrid_Cap...
LRP2 p.G3556E 2 170031804 170031804 SKM1_HAEMATOPOI... 37 Missense_Mutation SNP C T uc002ues.2 Hybrid_Cap... view
MAP2K1 15 66679649 66679650 SKM1_HAEMATOPOI... 37 5'UTR Ins - C rs67229745 uc010bhq.2 Hybrid_Cap...
MAP3K14 p.R218_splice 17 43364293 43364294 SKM1_HAEMATOPOI... 37 Splice_Site_Ins Ins - G rs66766023 uc002iiw.1 MAP3K14_uc010da... Hybrid_Cap...
MAPK4 p.A9T 18 48190353 48190353 SKM1_HAEMATOPOI... 37 Missense_Mutation SNP G A uc002lev.2 MAPK4_uc010xdm.... Hybrid_Cap... view
MCM3AP p.G138S 21 47704789 47704789 SKM1_HAEMATOPOI... 37 Missense_Mutation SNP C T uc002zir.1 C21orf57_uc002z... Hybrid_Cap... view
MSH2 p.Q419K 2 47657059 47657059 SKM1_HAEMATOPOI... 37 Missense_Mutation SNP C A uc002rvz.2 MSH2_uc010yoh.1... Hybrid_Cap... view
MUTYH 1 45794939 45794941 SKM1_HAEMATOPOI... 37 3'UTR Del AAC - uc009vxp.2 MUTYH_uc009vxn.... Hybrid_Cap...
MYLK p.E1066del 3 123419117 123419119 SKM1_HAEMATOPOI... 37 In_Frame_Del Del TTC - rs72491150 uc003ego.2 MYLK_uc011bjw.1... Hybrid_Cap...
MYST4 p.E1104del 10 76781906 76781908 SKM1_HAEMATOPOI... 37 In_Frame_Del Del GAA - rs79644703 uc001jwn.1 MYST4_uc001jwm.... Hybrid_Cap...
NCAM1 11 112832307 112832308 SKM1_HAEMATOPOI... 37 5'UTR Ins - A rs117108942 uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCAM1 11 112832340 112832340 SKM1_HAEMATOPOI... 37 5'UTR Del C - uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NEK3 p.K313_splice 13 52718050 52718051 SKM1_HAEMATOPOI... 37 Splice_Site_Ins Ins - T rs72514762 uc001vgh.2 NEK3_uc001vgg.2... Hybrid_Cap...
NF2 p.R8R 22 30000011 30000011 SKM1_HAEMATOPOI... 37 Silent SNP C G uc003age.3 NF2_uc003afy.3_... Hybrid_Cap... view
NFIA 1 61921185 61921186 SKM1_HAEMATOPOI... 37 3'UTR Ins - T rs57270124;rs76131997 uc010oos.1 NFIA_uc001czy.2... Hybrid_Cap...
NOTCH4 6 32163930 32163930 SKM1_HAEMATOPOI... 37 Intron SNP G C uc003obb.2 GPSM3_uc003oaz.... Hybrid_Cap... view
NPR1 1 153665919 153665920 SKM1_HAEMATOPOI... 37 3'UTR Ins - C rs66682713 uc001fcs.3 NPR1_uc010pdz.1... Hybrid_Cap...
NPRL2 3 50384978 50384978 SKM1_HAEMATOPOI... 37 3'UTR Del C - rs75013672 uc003daj.1 ZMYND10_uc003da... Hybrid_Cap...
NR1H2 p.176_177insQ 19 50881820 50881821 SKM1_HAEMATOPOI... 37 In_Frame_Ins Ins - AAC rs66783852;rs112359270 uc010enw.2 NR1H2_uc002prv.... Hybrid_Cap...
NUP210 3 13393258 13393258 SKM1_HAEMATOPOI... 37 Intron SNP A G uc003bxv.1 NUP210_uc003bxw... Hybrid_Cap... view
OBSCN p.T1382M 1 228437777 228437777 SKM1_HAEMATOPOI... 37 Missense_Mutation SNP C T uc009xez.1 OBSCN_uc001hsn.... Hybrid_Cap... view
OR2L13 p.I211T 1 248263309 248263309 SKM1_HAEMATOPOI... 37 Missense_Mutation SNP T C uc001ids.2 Hybrid_Cap... view
OSR1 p.D216N 2 19552921 19552921 SKM1_HAEMATOPOI... 37 Missense_Mutation SNP C T uc002rdc.2 Hybrid_Cap... view
PAX3 2 223066017 223066018 SKM1_HAEMATOPOI... 37 Intron Ins - C rs115619343 uc002vmt.1 PAX3_uc002vmy.1... Hybrid_Cap...
PAX3 2 223158653 223158653 SKM1_HAEMATOPOI... 37 Intron Del T - rs112753212 uc002vmt.1 PAX3_uc002vmy.1... Hybrid_Cap...
PCM1 8 17885407 17885408 SKM1_HAEMATOPOI... 37 3'UTR Ins - T rs117750062 uc003wyi.3 PCM1_uc011kyh.1... Hybrid_Cap...
PGR 11 100933598 100933599 SKM1_HAEMATOPOI... 37 Intron Ins - AATGA rs35148438 uc001pgh.2 PGR_uc001pgg.2_... Hybrid_Cap...
PI4KA p.V1467M 22 21083710 21083710 SKM1_HAEMATOPOI... 37 Missense_Mutation SNP C T uc002zsz.3 PI4KA_uc002zsy.... Hybrid_Cap... view
PRKCE p.P627A 2 46378327 46378327 SKM1_HAEMATOPOI... 37 Missense_Mutation SNP C G uc002rut.2 Hybrid_Cap... view
PRKDC p.L1244fs 8 48805816 48805817 SKM1_HAEMATOPOI... 37 Frame_Shift_Ins Ins - G rs67588121 uc003xqi.2 PRKDC_uc003xqj.... Hybrid_Cap...
RAG1 p.D162E 11 36595340 36595340 SKM1_HAEMATOPOI... 37 Missense_Mutation SNP T A uc001mwu.3 RAG1_uc001mwt.2... Hybrid_Cap... view
RECQL4 p.R766fs 8 145738768 145738768 SKM1_HAEMATOPOI... 37 Frame_Shift_Del Del G - uc003zdj.2 Hybrid_Cap...
REM1 p.R267H 20 30072136 30072136 SKM1_HAEMATOPOI... 37 Missense_Mutation SNP G A uc002wwa.2 NCRNA00028_uc01... Hybrid_Cap... view
RICTOR p.R855Q 5 38955742 38955742 SKM1_HAEMATOPOI... 37 Missense_Mutation SNP C T uc003jlo.2 RICTOR_uc003jlp... Hybrid_Cap... view
RIOK3 p.R326H 18 21053554 21053554 SKM1_HAEMATOPOI... 37 Missense_Mutation SNP G A uc002kui.3 RIOK3_uc010dls.... Hybrid_Cap... view
ROCK2 p.R1380* 2 11332299 11332299 SKM1_HAEMATOPOI... 37 Nonsense_Mutation SNP G A uc002rbd.1 Hybrid_Cap... view
RPS6KA5 14 91360733 91360734 SKM1_HAEMATOPOI... 37 Intron Ins - T rs77438853 uc001xys.2 RPS6KA5_uc010tw... Hybrid_Cap...
RPS6KC1 p.K747R 1 213415059 213415059 SKM1_HAEMATOPOI... 37 Missense_Mutation SNP A G uc010ptr.1 RPS6KC1_uc001hk... Hybrid_Cap... view
SEPT9 17 75494787 75494788 SKM1_HAEMATOPOI... 37 3'UTR Ins - C rs5822173 uc002jts.3 SEPT9_uc010wtk.... Hybrid_Cap...
SLC6A8 X 152957656 152957657 SKM1_HAEMATOPOI... 37 Intron Ins - A uc004fib.3 SLC6A8_uc004fic... Hybrid_Cap...
SPEN p.D430H 1 16242667 16242667 SKM1_HAEMATOPOI... 37 Missense_Mutation SNP G C uc001axk.1 SPEN_uc010obp.1... Hybrid_Cap... view
SPTAN1 p.Q959* 9 131351091 131351091 SKM1_HAEMATOPOI... 37 Nonsense_Mutation SNP C T uc004bvm.3 SPTAN1_uc011mbg... Hybrid_Cap... view
STK31 7 23872024 23872025 SKM1_HAEMATOPOI... 37 3'UTR Ins - TTTG rs66787534 uc003sws.3 STK31_uc003swt.... Hybrid_Cap...
TEC 4 48139307 48139310 SKM1_HAEMATOPOI... 37 3'UTR Del TTAT - rs79098351 uc003gxz.2 Hybrid_Cap...
TP53 p.R248Q 17 7577538 7577538 SKM1_HAEMATOPOI... 37 Missense_Mutation SNP C T rs11540652 uc002gim.2 TP53_uc002gig.1... Hybrid_Cap... view
TPH1 p.P268_splice 11 18048034 18048035 SKM1_HAEMATOPOI... 37 Splice_Site_Ins Ins - A uc001mnp.2 TPH1_uc009yhe.2... Hybrid_Cap...
TRIM36 p.I17T 5 114515685 114515685 SKM1_HAEMATOPOI... 37 Missense_Mutation SNP A G uc003kqs.2 TRIM36_uc003kqt... Hybrid_Cap... view
TRPM6 p.R1812W 9 77354692 77354692 SKM1_HAEMATOPOI... 37 Missense_Mutation SNP G A uc004ajl.1 TRPM6_uc004ajk.... Hybrid_Cap... view
TRPS1 8 116635872 116635873 SKM1_HAEMATOPOI... 37 5'UTR Ins - A rs76893349 uc003yny.2 TRPS1_uc011lhy.... Hybrid_Cap...
TTN 2 179391639 179391640 SKM1_HAEMATOPOI... 37 3'UTR Ins - T rs36037175 uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap...
TTN p.P33329S 2 179392026 179392026 SKM1_HAEMATOPOI... 37 Missense_Mutation SNP G A uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
VEGFC p.S419_splice 4 177605082 177605084 SKM1_HAEMATOPOI... 37 Splice_Site_Del Del TCA - uc003ius.1 Hybrid_Cap...
VRK3 p.L168L 19 50510871 50510871 SKM1_HAEMATOPOI... 37 Silent SNP G A uc002prg.2 VRK3_uc002prh.1... Hybrid_Cap... view