Annotation Summary for Cell Line: SIG-M5  

Cell line primary name: SIG-M5
Cell line aliases:
Gender: M
Site Primary: haematopoietic_and_lymphoid_tissue
Histology: haematopoietic_neoplasm
Hist Subtype1: acute_myeloid_leukaemia
Notes:
Source: DSMZ
Expression arrays: WATCH_p_NCLE_RNA8_HG-U133_Plus_2_G01_474646
SNP arrays: CHARY_p_NCLE_DNAAffy9_GenomeWideSNP_6_B11_490510
Oncomap: yes
Hybrid Capture Sequencing: yes


Mutations in SIG-M5

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 SIGM5_HAEMATOPO... 37 In_Frame_Del Del TGT - rs55712143 uc002sfp.2 AAK1_uc010fdk.2... Hybrid_Cap...
ACACA 17 35766564 35766564 SIGM5_HAEMATOPO... 37 5'UTR Del A - uc002hno.2 ACACA_uc002hnn.... Hybrid_Cap...
ADAM28 8 24211994 24211997 SIGM5_HAEMATOPO... 37 3'UTR Del CTAT - rs10610134 uc003xdy.2 ADAM28_uc011laa... Hybrid_Cap...
ADAMTS2 p.P219S 5 178699945 178699945 SIGM5_HAEMATOPO... 37 Missense_Mutation SNP G A uc003mjw.2 ADAMTS2_uc011dg... Hybrid_Cap... view
ADAMTS20 p.E1424V 12 43819330 43819330 SIGM5_HAEMATOPO... 37 Missense_Mutation SNP T A uc010skx.1 ADAMTS20_uc001r... Hybrid_Cap... view
AKAP9 p.1335_1336insQ 7 91652178 91652179 SIGM5_HAEMATOPO... 37 In_Frame_Ins Ins - AAC rs34756483 uc003ulg.2 AKAP9_uc003ule.... Hybrid_Cap...
ALPK1 4 113347609 113347610 SIGM5_HAEMATOPO... 37 Intron Ins - T rs68137453 uc003iap.3 ALPK1_uc003ian.... Hybrid_Cap...
AURKA p.A17G 20 54961582 54961582 SIGM5_HAEMATOPO... 37 Missense_Mutation SNP G C uc002xxd.1 AURKA_uc002xxe.... Hybrid_Cap... view
AURKC 19 57742494 57742507 SIGM5_HAEMATOPO... 37 5'UTR Del GGACG... - rs67926438;rs112039303;rs59094959 uc002qoe.2 AURKC_uc002qoc.... Hybrid_Cap...
BRAF p.V600E 7 140453136 140453136 SIGM5_HAEMATOPO... 37 Missense_Mutation SNP A T rs113488022 uc003vwc.3 Hybrid_Cap... view
CDC42BPA p.K1044E 1 227223273 227223273 SIGM5_HAEMATOPO... 37 Missense_Mutation SNP T C uc001hqr.2 CDC42BPA_uc001h... Hybrid_Cap... view
CDX2 13 28537202 28537202 SIGM5_HAEMATOPO... 37 3'UTR SNP C G uc001urv.2 Hybrid_Cap... view
CLTCL1 p.V1201_splice 22 19189003 19189004 SIGM5_HAEMATOPO... 37 Splice_Site_Ins Ins - C rs11386977 uc002zpb.2 CLTCL1_uc011agv... Hybrid_Cap...
CNTN6 3 1339681 1339686 SIGM5_HAEMATOPO... 37 Intron Del GTTTT... - uc003boz.2 CNTN6_uc010hbo.... Hybrid_Cap...
CREB3L2 p.T100del 7 137612914 137612916 SIGM5_HAEMATOPO... 37 In_Frame_Del Del TGG - uc003vtw.2 CREB3L2_uc003vt... Hybrid_Cap...
EP300 22 41574970 41574972 SIGM5_HAEMATOPO... 37 3'UTR Del GTA - rs76489032 uc003azl.3 Hybrid_Cap...
EPHA6 3 97367230 97367231 SIGM5_HAEMATOPO... 37 Intron Ins - A rs115253553 uc010how.1 EPHA6_uc003drs.... Hybrid_Cap...
ETV1 7 14028708 14028708 SIGM5_HAEMATOPO... 37 5'UTR Del A - rs77190713 uc011jxq.1 ETV1_uc011jxn.1... Hybrid_Cap...
FAM132A 1 1177919 1177919 SIGM5_HAEMATOPO... 37 3'UTR Del T - uc001adl.1 Hybrid_Cap...
FGF4 p.S182N 11 69588153 69588153 SIGM5_HAEMATOPO... 37 Missense_Mutation SNP C T uc001opg.1 FGF4_uc010rqj.1... Hybrid_Cap... view
FGFR3 4 1809128 1809129 SIGM5_HAEMATOPO... 37 3'UTR Del GT - uc003gdu.2 FGFR3_uc003gdr.... Hybrid_Cap...
FN1 2 216244182 216244185 SIGM5_HAEMATOPO... 37 Intron Del GTAC - uc002vfa.2 FN1_uc002vfb.2_... Hybrid_Cap...
GPR112 p.D2657del X 135474445 135474447 SIGM5_HAEMATOPO... 37 In_Frame_Del Del GAT - rs3030295 uc004ezu.1 GPR112_uc010nsb... Hybrid_Cap...
GRIA3 X 122318386 122318387 SIGM5_HAEMATOPO... 37 Splice_Site_Ins Ins - G rs66632982 uc004etq.3 GRIA3_uc004etr.... Hybrid_Cap...
GUCY2C p.Y397* 12 14822747 14822747 SIGM5_HAEMATOPO... 37 Nonsense_Mutation SNP A T uc001rcd.2 Hybrid_Cap... view
HNF1A 12 121434630 121434631 SIGM5_HAEMATOPO... 37 Intron Ins - TCATTCAT rs75100977 uc010szn.1 HNF1A_uc001tze.... Hybrid_Cap...
HSP90B1 p.E791del 12 104341188 104341190 SIGM5_HAEMATOPO... 37 In_Frame_Del Del GAA - rs117491163 uc001tkb.1 HSP90B1_uc010sw... Hybrid_Cap...
ILK 11 6630029 6630029 SIGM5_HAEMATOPO... 37 Intron Del C - uc001mee.2 ILK_uc001mef.2_... Hybrid_Cap...
IRAK1 p.R366C X 153282028 153282028 SIGM5_HAEMATOPO... 37 Missense_Mutation SNP G A uc004fjs.1 IRAK1_uc004fjr.... Hybrid_Cap... view
ITGA7 p.T665M 12 56089327 56089327 SIGM5_HAEMATOPO... 37 Missense_Mutation SNP G A uc001shh.2 ITGA7_uc001shg.... Hybrid_Cap... view
KLK7 19 51480672 51480675 SIGM5_HAEMATOPO... 37 3'UTR Del GGTT - uc002puo.2 KLK7_uc002pup.2... Hybrid_Cap...
LAMA1 p.T2617M 18 6958590 6958590 SIGM5_HAEMATOPO... 37 Missense_Mutation SNP G A uc002knm.2 LAMA1_uc002knk.... Hybrid_Cap... view
MAML3 p.Q767_splice 4 140651585 140651587 SIGM5_HAEMATOPO... 37 Splice_Site_Del Del CTG - uc003ihz.1 MGST2_uc010ioi.... Hybrid_Cap...
MAP3K1 p.T949del 5 56177849 56177851 SIGM5_HAEMATOPO... 37 In_Frame_Del Del CAA - uc003jqw.3 Hybrid_Cap...
MAP3K14 p.R218_splice 17 43364293 43364294 SIGM5_HAEMATOPO... 37 Splice_Site_Ins Ins - G rs66766023 uc002iiw.1 MAP3K14_uc010da... Hybrid_Cap...
MAPKAPK3 3 50685575 50685575 SIGM5_HAEMATOPO... 37 3'UTR Del A - rs76026164 uc003day.1 MAPKAPK3_uc003d... Hybrid_Cap...
MAPKBP1 15 42104986 42104986 SIGM5_HAEMATOPO... 37 Intron SNP G C uc001zok.3 MAPKBP1_uc001zo... Hybrid_Cap... view
MAPKBP1 15 42111746 42111746 SIGM5_HAEMATOPO... 37 Intron Del G - uc001zok.3 MAPKBP1_uc001zo... Hybrid_Cap...
MAPKBP1 15 42111753 42111754 SIGM5_HAEMATOPO... 37 Intron Ins - C rs3034891 uc001zok.3 MAPKBP1_uc001zo... Hybrid_Cap...
MSH3 p.63_64insAAP 5 79950724 79950725 SIGM5_HAEMATOPO... 37 In_Frame_Ins Ins - CCGCAGCGC rs72432994 uc003kgz.2 DHFR_uc011ctl.1... Hybrid_Cap...
MUSK p.D454N 9 113538243 113538243 SIGM5_HAEMATOPO... 37 Missense_Mutation SNP G A uc004bey.2 MUSK_uc004bez.1... Hybrid_Cap... view
MYH1 p.R148H 17 10419305 10419305 SIGM5_HAEMATOPO... 37 Missense_Mutation SNP C T uc002gmo.2 Hybrid_Cap... view
MYST4 p.S417T 10 76735344 76735344 SIGM5_HAEMATOPO... 37 Missense_Mutation SNP T A uc001jwn.1 MYST4_uc001jwm.... Hybrid_Cap... view
NCAM1 11 112832307 112832308 SIGM5_HAEMATOPO... 37 5'UTR Ins - A rs117108942 uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCAM1 11 112832340 112832340 SIGM5_HAEMATOPO... 37 5'UTR Del C - uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NEK3 p.K313_splice 13 52718050 52718051 SIGM5_HAEMATOPO... 37 Splice_Site_Ins Ins - T rs72514762 uc001vgh.2 NEK3_uc001vgg.2... Hybrid_Cap...
NLRP3 1 247611960 247611960 SIGM5_HAEMATOPO... 37 3'UTR SNP C T uc001icr.2 NLRP3_uc001ics.... Hybrid_Cap... view
NPR1 1 153665919 153665920 SIGM5_HAEMATOPO... 37 3'UTR Ins - C rs66682713 uc001fcs.3 NPR1_uc010pdz.1... Hybrid_Cap...
NR1H2 p.176_177insQ 19 50881820 50881821 SIGM5_HAEMATOPO... 37 In_Frame_Ins Ins - AAC rs66783852;rs112359270 uc010enw.2 NR1H2_uc002prv.... Hybrid_Cap...
PAX3 2 223158653 223158653 SIGM5_HAEMATOPO... 37 Intron Del T - rs112753212 uc002vmt.1 PAX3_uc002vmy.1... Hybrid_Cap...
PICALM p.P584Q 11 85692200 85692200 SIGM5_HAEMATOPO... 37 Missense_Mutation SNP G T uc001pbm.2 PICALM_uc001pbl... Hybrid_Cap... view
PIK3C2G p.P129del 12 18435399 18435401 SIGM5_HAEMATOPO... 37 In_Frame_Del Del CCC - uc010sib.1 PIK3C2G_uc001rd... Hybrid_Cap...
PRKCZ p.D541D 1 2116069 2116069 SIGM5_HAEMATOPO... 37 Silent SNP C T uc001aiq.2 PRKCZ_uc001air.... Hybrid_Cap... view
PRKDC p.L1244fs 8 48805816 48805817 SIGM5_HAEMATOPO... 37 Frame_Shift_Ins Ins - G rs67588121 uc003xqi.2 PRKDC_uc003xqj.... Hybrid_Cap...
RAD51L1 p.K63E 14 68292283 68292283 SIGM5_HAEMATOPO... 37 Missense_Mutation SNP A G uc010aqs.1 RAD51L1_uc010aq... Hybrid_Cap... view
RECQL4 p.R766fs 8 145738768 145738768 SIGM5_HAEMATOPO... 37 Frame_Shift_Del Del G - uc003zdj.2 Hybrid_Cap...
RGS22 p.Q96Q 8 101092413 101092413 SIGM5_HAEMATOPO... 37 Silent SNP T C uc003yjb.1 RGS22_uc003yja.... Hybrid_Cap... view
RIPK2 p.M515T 8 90802565 90802565 SIGM5_HAEMATOPO... 37 Missense_Mutation SNP T C uc003yee.2 RIPK2_uc003yef.... Hybrid_Cap... view
RPS6KL1 14 75373626 75373627 SIGM5_HAEMATOPO... 37 3'UTR Ins - TGAT uc001xqx.1 RPS6KL1_uc001xq... Hybrid_Cap...
TBCK p.R530L 4 107154145 107154145 SIGM5_HAEMATOPO... 37 Missense_Mutation SNP C A uc010ilv.2 TBCK_uc003hyb.2... Hybrid_Cap... view
TEC 4 48139307 48139310 SIGM5_HAEMATOPO... 37 3'UTR Del TTAT - rs79098351 uc003gxz.2 Hybrid_Cap...
TP63 3 189507518 189507519 SIGM5_HAEMATOPO... 37 Intron Ins - AGAG rs62702062;rs79714037 uc003fry.2 TP63_uc003frx.2... Hybrid_Cap...
TRIM33 1 114940215 114940216 SIGM5_HAEMATOPO... 37 3'UTR Ins - G rs68133208 uc001eew.2 TRIM33_uc010owr... Hybrid_Cap...
TRIM42 p.R107C 3 140397390 140397390 SIGM5_HAEMATOPO... 37 Missense_Mutation SNP C T uc003eto.1 Hybrid_Cap... view
TRPS1 8 116635872 116635873 SIGM5_HAEMATOPO... 37 5'UTR Ins - A rs76893349 uc003yny.2 TRPS1_uc011lhy.... Hybrid_Cap...
TSC2 16 2138671 2138672 SIGM5_HAEMATOPO... 37 3'UTR Del AA - uc002con.2 TSC2_uc010bsd.2... Hybrid_Cap...
TTN p.R25758Q 2 179425882 179425882 SIGM5_HAEMATOPO... 37 Missense_Mutation SNP C T uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
VEGFC p.S419_splice 4 177605082 177605084 SIGM5_HAEMATOPO... 37 Splice_Site_Del Del TCA - uc003ius.1 Hybrid_Cap...
WNK4 17 40945875 40945875 SIGM5_HAEMATOPO... 37 Intron Del T - uc002ibj.2 WNK4_uc010wgx.1... Hybrid_Cap...