Annotation Summary for Cell Line: NB-4  

Cell line primary name: NB-4
Cell line aliases:
Gender: F
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_E09_474724
SNP arrays: CHARY_p_NCLE_DNAAffy9_GenomeWideSNP_6_B06_490494
Oncomap: yes
Hybrid Capture Sequencing: yes


Mutations in NB-4

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 NB4_HAEMATOPOIE... 37 5'UTR Del A - uc002hno.2 ACACA_uc002hnn.... Hybrid_Cap...
ACVR1C p.K347N 2 158399277 158399277 NB4_HAEMATOPOIE... 37 Missense_Mutation SNP C G uc002tzk.3 ACVR1C_uc002tzl... Hybrid_Cap... view
ADAM17 2 9630245 9630245 NB4_HAEMATOPOIE... 37 3'UTR Del T - uc002qzu.2 IAH1_uc010yiz.1... Hybrid_Cap...
ADAM28 8 24211994 24211997 NB4_HAEMATOPOIE... 37 3'UTR Del CTAT - rs10610134 uc003xdy.2 ADAM28_uc011laa... Hybrid_Cap...
ADHFE1 p.V434L 8 67372680 67372680 NB4_HAEMATOPOIE... 37 Missense_Mutation SNP G C uc003xwb.3 ADHFE1_uc003xwd... Hybrid_Cap... view
AKAP12 p.1531_1532insE 6 151674116 151674117 NB4_HAEMATOPOIE... 37 In_Frame_Ins Ins - GAG rs34737819 uc011eep.1 AKAP12_uc003qoe... Hybrid_Cap...
AKAP9 p.1335_1336insQ 7 91652178 91652179 NB4_HAEMATOPOIE... 37 In_Frame_Ins Ins - AAC rs34756483 uc003ulg.2 AKAP9_uc003ule.... Hybrid_Cap...
BCR 22 23631813 23631814 NB4_HAEMATOPOIE... 37 Intron Ins - C rs66503844 uc002zww.2 BCR_uc002zwx.2_... Hybrid_Cap...
C15ORF2 p.S634R 15 24922916 24922916 NB4_HAEMATOPOIE... 37 Missense_Mutation SNP T G uc001ywo.2 Hybrid_Cap... view
CACNB2 10 18828669 18828670 NB4_HAEMATOPOIE... 37 3'UTR Ins - C rs34022725;rs58830289 uc001ipr.2 CACNB2_uc009xjz... Hybrid_Cap...
CDH11 p.P142L 16 65032563 65032563 NB4_HAEMATOPOIE... 37 Missense_Mutation SNP G A uc002eoi.2 CDH11_uc010cdn.... Hybrid_Cap... view
CHD1 p.P1684del 5 98192165 98192167 NB4_HAEMATOPOIE... 37 In_Frame_Del Del AGG - rs79267787;rs61749618 uc003knf.2 CHD1_uc010jbn.2... Hybrid_Cap...
CIT 12 120125896 120125896 NB4_HAEMATOPOIE... 37 3'UTR SNP C T uc001txj.1 CIT_uc001txh.1_... Hybrid_Cap... view
DACH1 13 72014625 72014626 NB4_HAEMATOPOIE... 37 3'UTR Ins - T rs117109529 uc010thn.1 DACH1_uc010tho.... Hybrid_Cap...
DNAH8 p.L3176F 6 38885051 38885051 NB4_HAEMATOPOIE... 37 Missense_Mutation SNP C T uc003ooe.1 Hybrid_Cap... view
DST p.A1825T 6 56463372 56463372 NB4_HAEMATOPOIE... 37 Missense_Mutation SNP C T uc003pdf.2 DST_uc003pcz.3_... Hybrid_Cap... view
EIF4E 4 99808137 99808141 NB4_HAEMATOPOIE... 37 Intron Del TTAAA - uc011ceb.1 EIF4E_uc011cea.... Hybrid_Cap...
EP300 p.L2393V 22 41574892 41574892 NB4_HAEMATOPOIE... 37 Missense_Mutation SNP C G uc003azl.3 Hybrid_Cap... view
EPHA6 3 97367230 97367231 NB4_HAEMATOPOIE... 37 Intron Ins - A rs115253553 uc010how.1 EPHA6_uc003drs.... Hybrid_Cap...
FGFR1OP 6 167453519 167453520 NB4_HAEMATOPOIE... 37 3'UTR Ins - T rs115519488 uc003qvj.2 CCR6_uc003qvl.2... Hybrid_Cap...
FGFR3 4 1809128 1809129 NB4_HAEMATOPOIE... 37 3'UTR Del GT - uc003gdu.2 FGFR3_uc003gdr.... Hybrid_Cap...
FLI1 11 128638217 128638217 NB4_HAEMATOPOIE... 37 Intron Del G - uc010sbu.1 FLI1_uc010sbt.1... Hybrid_Cap...
FMN2 p.PPLPGAGIPPP939del 1 240370914 240370946 NB4_HAEMATOPOIE... 37 In_Frame_Del Del GCCCC... - rs4997328;rs4997329 uc010pye.1 FMN2_uc010pyd.1... Hybrid_Cap...
FN1 2 216244182 216244185 NB4_HAEMATOPOIE... 37 Intron Del GTAC - uc002vfa.2 FN1_uc002vfb.2_... Hybrid_Cap...
GRIA3 X 122318386 122318387 NB4_HAEMATOPOIE... 37 Splice_Site_Ins Ins - G rs66632982 uc004etq.3 GRIA3_uc004etr.... Hybrid_Cap...
GUCY2C 12 14827464 14827466 NB4_HAEMATOPOIE... 37 Intron Del ATC - rs72525754;rs3083879 uc001rcd.2 GUCY2C_uc009zhz... Hybrid_Cap...
HIF1A 14 62213929 62213930 NB4_HAEMATOPOIE... 37 3'UTR Ins - T rs67890419 uc001xfs.2 HIF1A_uc001xfq.... Hybrid_Cap...
HNF1A 12 121434630 121434631 NB4_HAEMATOPOIE... 37 Intron Ins - TCATTCAT rs75100977 uc010szn.1 HNF1A_uc001tze.... Hybrid_Cap...
HSP90B1 p.E791del 12 104341188 104341190 NB4_HAEMATOPOIE... 37 In_Frame_Del Del GAA - rs117491163 uc001tkb.1 HSP90B1_uc010sw... Hybrid_Cap...
ILK 11 6630029 6630029 NB4_HAEMATOPOIE... 37 Intron Del C - uc001mee.2 ILK_uc001mef.2_... Hybrid_Cap...
INHBA 7 41729111 41729112 NB4_HAEMATOPOIE... 37 3'UTR Ins - T rs116913029 uc003thq.2 INHBA_uc003thr.... Hybrid_Cap...
ITPR2 p.R470_splice 12 26834804 26834805 NB4_HAEMATOPOIE... 37 Splice_Site_Ins Ins - ACTC rs66696203;rs59199365 uc001rhg.2 Hybrid_Cap...
KRAS p.A18D 12 25398266 25398266 NB4_HAEMATOPOIE... 37 Missense_Mutation SNP G T uc001rgp.1 KRAS_uc001rgq.1... Hybrid_Cap... view
KTN1 p.F792C 14 56116501 56116501 NB4_HAEMATOPOIE... 37 Missense_Mutation SNP T G uc001xcb.2 KTN1_uc001xce.2... Hybrid_Cap... view
MAML3 p.Q767_splice 4 140651585 140651587 NB4_HAEMATOPOIE... 37 Splice_Site_Del Del CTG - uc003ihz.1 MGST2_uc010ioi.... Hybrid_Cap...
MAP3K14 p.R218_splice 17 43364293 43364294 NB4_HAEMATOPOIE... 37 Splice_Site_Ins Ins - G rs66766023 uc002iiw.1 MAP3K14_uc010da... Hybrid_Cap...
MAPKAPK3 3 50685575 50685575 NB4_HAEMATOPOIE... 37 3'UTR Del A - rs76026164 uc003day.1 MAPKAPK3_uc003d... Hybrid_Cap...
MERTK 2 112656206 112656206 NB4_HAEMATOPOIE... 37 5'UTR SNP C A uc002thk.1 MERTK_uc002thl.... Hybrid_Cap... view
MGA p.V1993F 15 42041782 42041782 NB4_HAEMATOPOIE... 37 Missense_Mutation SNP G T rs61754768 uc010ucy.1 MGA_uc010ucz.1_... Hybrid_Cap... view
MLL3 p.Y816fs 7 151945071 151945072 NB4_HAEMATOPOIE... 37 Frame_Shift_Ins Ins - T uc003wla.2 Hybrid_Cap...
MSH3 p.PPA66del 5 79950742 79950750 NB4_HAEMATOPOIE... 37 In_Frame_Del Del CCCCC... - rs60484572;rs1047489 uc003kgz.2 DHFR_uc011ctl.1... Hybrid_Cap...
MYLK p.E1430_splice 3 123368043 123368044 NB4_HAEMATOPOIE... 37 Splice_Site_Ins Ins - G rs41431347 uc003ego.2 MYLK_uc010hrr.2... Hybrid_Cap...
MYLK 3 123456177 123456177 NB4_HAEMATOPOIE... 37 Intron SNP C G uc003ego.2 MYLK_uc011bjw.1... Hybrid_Cap... view
MYST3 p.R469Q 8 41832298 41832298 NB4_HAEMATOPOIE... 37 Missense_Mutation SNP C T uc010lxb.2 MYST3_uc010lxc.... Hybrid_Cap... view
NCAM1 11 112832307 112832308 NB4_HAEMATOPOIE... 37 5'UTR Ins - A rs117108942 uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCAM1 11 112832340 112832340 NB4_HAEMATOPOIE... 37 5'UTR Del C - uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCOA3 p.Q1276del 20 46279837 46279839 NB4_HAEMATOPOIE... 37 In_Frame_Del Del CAG - rs2664555 uc002xtk.2 NCOA3_uc010ght.... Hybrid_Cap...
NEK3 p.K313_splice 13 52718050 52718051 NB4_HAEMATOPOIE... 37 Splice_Site_Ins Ins - T rs72514762 uc001vgh.2 NEK3_uc001vgg.2... Hybrid_Cap...
NOS3 p.R128Q 7 150693604 150693604 NB4_HAEMATOPOIE... 37 Missense_Mutation SNP G A uc003wif.2 NOS3_uc011kuy.1... Hybrid_Cap... view
NOTCH4 p.12_16LLLLL>L 6 32191659 32191670 NB4_HAEMATOPOIE... 37 In_Frame_Del Del AGCAG... - uc003obb.2 NOTCH4_uc011dpu... Hybrid_Cap...
NPR1 1 153665919 153665920 NB4_HAEMATOPOIE... 37 3'UTR Ins - C rs66682713 uc001fcs.3 NPR1_uc010pdz.1... Hybrid_Cap...
NR1H2 p.176_177insQ 19 50881820 50881821 NB4_HAEMATOPOIE... 37 In_Frame_Ins Ins - AAC rs66783852;rs112359270 uc010enw.2 NR1H2_uc002prv.... Hybrid_Cap...
PAK4 p.A427S 19 39665998 39665998 NB4_HAEMATOPOIE... 37 Missense_Mutation SNP G T uc002okj.1 PAK4_uc002okl.1... Hybrid_Cap... view
PAX3 2 223158653 223158653 NB4_HAEMATOPOIE... 37 Intron Del T - rs112753212 uc002vmt.1 PAX3_uc002vmy.1... Hybrid_Cap...
PDE4DIP p.Q1665fs 1 144873963 144873963 NB4_HAEMATOPOIE... 37 Frame_Shift_Del Del T - uc001elw.3 NBPF10_uc009wir... Hybrid_Cap...
PDE4DIP p.V486fs 1 144917828 144917828 NB4_HAEMATOPOIE... 37 Frame_Shift_Del Del A - uc001elw.3 NBPF10_uc009wir... Hybrid_Cap...
PDGFRA 4 55131002 55131002 NB4_HAEMATOPOIE... 37 Intron Del A - uc003han.3 PDGFRA_uc003haa... Hybrid_Cap...
PGGT1B 5 114548071 114548072 NB4_HAEMATOPOIE... 37 3'UTR Ins - C uc003kqw.3 PGGT1B_uc003kqx... Hybrid_Cap...
PGR 11 100933598 100933599 NB4_HAEMATOPOIE... 37 Intron Ins - AATGA rs35148438 uc001pgh.2 PGR_uc001pgg.2_... Hybrid_Cap...
PIK3C2G p.P129del 12 18435399 18435401 NB4_HAEMATOPOIE... 37 In_Frame_Del Del CCC - uc010sib.1 PIK3C2G_uc001rd... Hybrid_Cap...
PKHD1 p.G2086V 6 51777239 51777239 NB4_HAEMATOPOIE... 37 Missense_Mutation SNP C A uc003pah.1 PKHD1_uc010jzn.... Hybrid_Cap... view
PMS1 2 190670539 190670540 NB4_HAEMATOPOIE... 37 Intron Ins - A rs3214425 uc002urh.3 PMS1_uc010zga.1... Hybrid_Cap...
PRKDC p.L1244fs 8 48805816 48805817 NB4_HAEMATOPOIE... 37 Frame_Shift_Ins Ins - G rs67588121 uc003xqi.2 PRKDC_uc003xqj.... Hybrid_Cap...
RBBP8 p.L66R 18 20529625 20529625 NB4_HAEMATOPOIE... 37 Missense_Mutation SNP T G uc002kua.2 RBBP8_uc002ktw.... Hybrid_Cap... view
RBM15 p.RVT30del 1 110882115 110882123 NB4_HAEMATOPOIE... 37 In_Frame_Del Del CGGGT... - uc001dzl.1 RBM15_uc001dzm.... Hybrid_Cap...
RECQL4 p.R766fs 8 145738768 145738768 NB4_HAEMATOPOIE... 37 Frame_Shift_Del Del G - uc003zdj.2 Hybrid_Cap...
ROS1 p.V530M 6 117710684 117710684 NB4_HAEMATOPOIE... 37 Missense_Mutation SNP C T uc003pxp.1 ROS1_uc011ebi.1... Hybrid_Cap... view
RUNX1T1 p.R205C 8 93017504 93017504 NB4_HAEMATOPOIE... 37 Missense_Mutation SNP G A uc011lgi.1 RUNX1T1_uc003yf... Hybrid_Cap... view
STK31 7 23872024 23872025 NB4_HAEMATOPOIE... 37 3'UTR Ins - TTTG rs66787534 uc003sws.3 STK31_uc003swt.... Hybrid_Cap...
TAOK3 12 118693380 118693380 NB4_HAEMATOPOIE... 37 5'UTR SNP A C uc001twx.2 TAOK3_uc001twy.... Hybrid_Cap... view
TCF21 6 134210497 134210498 NB4_HAEMATOPOIE... 37 5'UTR Ins - TCTC rs35199378 uc003qei.3 TCF21_uc003qej.... Hybrid_Cap...
TEC 4 48139307 48139310 NB4_HAEMATOPOIE... 37 3'UTR Del TTAT - rs79098351 uc003gxz.2 Hybrid_Cap...
TEK p.E300* 9 27173357 27173357 NB4_HAEMATOPOIE... 37 Nonsense_Mutation SNP G T uc003zqi.3 TEK_uc010mjc.1_... Hybrid_Cap... view
TLK1 2 171850178 171850179 NB4_HAEMATOPOIE... 37 3'UTR Ins - AA rs71008739 uc002ugo.2 TLK1_uc002ugn.2... Hybrid_Cap...
TMEM123 11 102269398 102269398 NB4_HAEMATOPOIE... 37 3'UTR Del G - uc001pha.2 TMEM123_uc009yx... Hybrid_Cap...
TNRC6B p.Q1328del 22 40697177 40697179 NB4_HAEMATOPOIE... 37 In_Frame_Del Del GCA - rs114291931 uc011aor.1 TNRC6B_uc003aym... Hybrid_Cap...
TP53 p.R248Q 17 7577538 7577538 NB4_HAEMATOPOIE... 37 Missense_Mutation SNP C T rs11540652 uc002gim.2 TP53_uc002gig.1... Hybrid_Cap... view
TRIM36 5 114462156 114462156 NB4_HAEMATOPOIE... 37 3'UTR SNP G T uc003kqs.2 TRIM36_uc011cwc... Hybrid_Cap... view
TTN p.K21990R 2 179437186 179437186 NB4_HAEMATOPOIE... 37 Missense_Mutation SNP T C uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
VEGFC p.S419_splice 4 177605082 177605084 NB4_HAEMATOPOIE... 37 Splice_Site_Del Del TCA - uc003ius.1 Hybrid_Cap...