Annotation Summary for Cell Line: MV-4-11  

Cell line primary name: MV-4-11
Cell line aliases:
Gender: M
Site Primary: haematopoietic_and_lymphoid_tissue
Histology: haematopoietic_neoplasm
Hist Subtype1: acute_myeloid_leukaemia
Notes:
Source: ATCC
Expression arrays: PARES_p_NCLE_RNA_Redo_HG-U133_Plus_2_C10_257664
SNP arrays: LIMPS_p_NCLE_DNA2N_GenomeWideSNP_6_G10_246772
Oncomap: yes
Hybrid Capture Sequencing: yes


Mutations in MV-4-11

GeneProtein
Change
ChrStartEnd SampleNCBI
Build
Variant
Classification
Variant TypeReference
Allele
Tumor
Allele 1
dbSNP IDAnnotation
Transcript
Other
Transcripts
Method View
Reads
Mutation
Assessor
ADAM28 8 24211994 24211997 MV411_HAEMATOPO... 37 3'UTR Del CTAT - rs10610134 uc003xdy.2 ADAM28_uc011laa... Hybrid_Cap...
AKAP12 p.1531_1532insE 6 151674116 151674117 MV411_HAEMATOPO... 37 In_Frame_Ins Ins - GAG rs34737819 uc011eep.1 AKAP12_uc003qoe... Hybrid_Cap...
BMP2K p.QQQQ482del 4 79792137 79792148 MV411_HAEMATOPO... 37 In_Frame_Del Del CAGCA... - rs17855588 uc003hlk.2 BMP2K_uc010ijl.... Hybrid_Cap...
BRD2 6 32948599 32948599 MV411_HAEMATOPO... 37 3'UTR Del C - uc010juh.2 BRD2_uc003ocn.3... Hybrid_Cap...
CACNB2 10 18828721 18828722 MV411_HAEMATOPO... 37 3'UTR Ins - AA rs3841459 uc001ipr.2 CACNB2_uc009xjz... Hybrid_Cap...
CD160 1 145698809 145698809 MV411_HAEMATOPO... 37 Intron SNP C G uc001eol.1 NBPF10_uc001emp... Hybrid_Cap... view
CDK11B 1 1654066 1654068 MV411_HAEMATOPO... 37 Intron Del GCG - uc001agv.1 CDK11B_uc001aha... Hybrid_Cap...
CHD1 p.P1684del 5 98192165 98192167 MV411_HAEMATOPO... 37 In_Frame_Del Del AGG - rs79267787;rs61749618 uc003knf.2 CHD1_uc010jbn.2... Hybrid_Cap...
CLTCL1 p.V1201_splice 22 19189003 19189004 MV411_HAEMATOPO... 37 Splice_Site_Ins Ins - C rs11386977 uc002zpb.2 CLTCL1_uc011agv... Hybrid_Cap...
COL18A1 p.R172H 21 46875959 46875959 MV411_HAEMATOPO... 37 Missense_Mutation SNP G A uc011afs.1 COL18A1_uc002zh... Hybrid_Cap... view
CUBN p.E2310fs 10 16960687 16960693 MV411_HAEMATOPO... 37 Frame_Shift_Del Del TAACC... - uc001ioo.2 Hybrid_Cap...
CXCL12 10 44873992 44873993 MV411_HAEMATOPO... 37 Intron Ins - CT rs117617571 uc001jbh.2 CXCL12_uc001jbf... Hybrid_Cap...
CYP27B1 12 58156782 58156782 MV411_HAEMATOPO... 37 3'UTR SNP C T uc001spz.1 CYP27B1_uc001sq... Hybrid_Cap... view
DACH1 13 72014625 72014626 MV411_HAEMATOPO... 37 3'UTR Ins - T rs117109529 uc010thn.1 DACH1_uc010tho.... Hybrid_Cap...
DYRK1A 21 38884966 38884967 MV411_HAEMATOPO... 37 3'UTR Ins - T rs72430212 uc002ywk.2 DYRK1A_uc002ywi... Hybrid_Cap...
EDN1 6 12290729 12290729 MV411_HAEMATOPO... 37 5'UTR Del A - uc003nae.3 EDN1_uc010jpb.2... Hybrid_Cap...
EDN1 6 12296150 12296151 MV411_HAEMATOPO... 37 Intron Ins - T rs66570617 uc003nae.3 EDN1_uc003nad.2... Hybrid_Cap...
EPHA6 3 97367230 97367231 MV411_HAEMATOPO... 37 Intron Ins - A rs115253553 uc010how.1 EPHA6_uc003drs.... Hybrid_Cap...
ETV1 7 14028708 14028708 MV411_HAEMATOPO... 37 5'UTR Del A - rs77190713 uc011jxq.1 ETV1_uc011jxn.1... Hybrid_Cap...
FLI1 11 128638217 128638217 MV411_HAEMATOPO... 37 Intron Del G - uc010sbu.1 FLI1_uc010sbt.1... Hybrid_Cap...
FMN2 p.PPLPGAGIPPP939del 1 240370914 240370946 MV411_HAEMATOPO... 37 In_Frame_Del Del GCCCC... - rs4997328;rs4997329 uc010pye.1 FMN2_uc010pyd.1... Hybrid_Cap...
FN1 2 216244182 216244185 MV411_HAEMATOPO... 37 Intron Del GTAC - uc002vfa.2 FN1_uc002vfb.2_... Hybrid_Cap...
GLYAT 11 58477932 58477932 MV411_HAEMATOPO... 37 Intron Del T - uc001nnb.2 GLYAT_uc001nnc.... Hybrid_Cap...
GPR112 p.D2657del X 135474445 135474447 MV411_HAEMATOPO... 37 In_Frame_Del Del GAT - rs3030295 uc004ezu.1 GPR112_uc010nsb... Hybrid_Cap...
GRIA3 X 122318386 122318387 MV411_HAEMATOPO... 37 Splice_Site_Ins Ins - G rs66632982 uc004etq.3 GRIA3_uc004etr.... Hybrid_Cap...
GUCY2C 12 14827464 14827466 MV411_HAEMATOPO... 37 Intron Del ATC - rs72525754;rs3083879 uc001rcd.2 GUCY2C_uc009zhz... Hybrid_Cap...
HNF1A 12 121434630 121434631 MV411_HAEMATOPO... 37 Intron Ins - TCATTCAT rs75100977 uc010szn.1 HNF1A_uc001tze.... Hybrid_Cap...
ILK 11 6630029 6630029 MV411_HAEMATOPO... 37 Intron Del C - uc001mee.2 ILK_uc001mef.2_... Hybrid_Cap...
ITPR2 p.R470_splice 12 26834804 26834805 MV411_HAEMATOPO... 37 Splice_Site_Ins Ins - ACTC rs66696203;rs59199365 uc001rhg.2 Hybrid_Cap...
MAF 16 79628537 79628537 MV411_HAEMATOPO... 37 Intron Del T - uc002ffm.2 MAF_uc002ffn.2_... Hybrid_Cap...
MAML3 p.Q767_splice 4 140651585 140651587 MV411_HAEMATOPO... 37 Splice_Site_Del Del CTG - uc003ihz.1 MGST2_uc010ioi.... Hybrid_Cap...
MAP3K1 p.T949del 5 56177849 56177851 MV411_HAEMATOPO... 37 In_Frame_Del Del CAA - uc003jqw.3 Hybrid_Cap...
MAP3K14 p.R218_splice 17 43364293 43364294 MV411_HAEMATOPO... 37 Splice_Site_Ins Ins - G rs66766023 uc002iiw.1 MAP3K14_uc010da... Hybrid_Cap...
MAPKAPK3 3 50685575 50685575 MV411_HAEMATOPO... 37 3'UTR Del A - rs76026164 uc003day.1 MAPKAPK3_uc003d... Hybrid_Cap...
MECOM p.E223K 3 168845795 168845795 MV411_HAEMATOPO... 37 Missense_Mutation SNP C T uc011bpj.1 MECOM_uc010hwk.... Hybrid_Cap... view
MECOM p.G19G 3 169099293 169099293 MV411_HAEMATOPO... 37 Silent SNP G T uc011bpj.1 MECOM_uc003ffl.... Hybrid_Cap... view
MLLT6 17 36881873 36881873 MV411_HAEMATOPO... 37 3'UTR Del C - uc002hqi.3 MLLT6_uc002hqk.... Hybrid_Cap...
MSH3 p.PPA66del 5 79950742 79950750 MV411_HAEMATOPO... 37 In_Frame_Del Del CCCCC... - rs60484572;rs1047489 uc003kgz.2 DHFR_uc011ctl.1... Hybrid_Cap...
MYO3B p.G377V 2 171239644 171239644 MV411_HAEMATOPO... 37 Missense_Mutation SNP G T uc002ufy.2 MYO3B_uc002ufv.... Hybrid_Cap... view
NBN p.K690Q 8 90958370 90958370 MV411_HAEMATOPO... 37 Missense_Mutation SNP T G uc003yej.1 NBN_uc003yei.1_... Hybrid_Cap... view
NCAM1 11 112832307 112832308 MV411_HAEMATOPO... 37 5'UTR Ins - A rs117108942 uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCAM1 11 112832340 112832340 MV411_HAEMATOPO... 37 5'UTR Del C - uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCOA3 p.QQQ1272del 20 46279815 46279823 MV411_HAEMATOPO... 37 In_Frame_Del Del GCAGC... - uc002xtk.2 NCOA3_uc010ght.... Hybrid_Cap...
NEDD8 14 24701530 24701530 MV411_HAEMATOPO... 37 5'UTR SNP G C uc001wnn.2 NEDD8_uc001wno.... Hybrid_Cap... view
NEK4 p.G284V 3 52794923 52794923 MV411_HAEMATOPO... 37 Missense_Mutation SNP C A uc003dfq.3 NEK4_uc011bej.1... Hybrid_Cap... view
NFIA 1 61921185 61921186 MV411_HAEMATOPO... 37 3'UTR Ins - T rs57270124;rs76131997 uc010oos.1 NFIA_uc001czy.2... Hybrid_Cap...
NPM1 5 170837734 170837734 MV411_HAEMATOPO... 37 3'UTR Del T - uc011dex.1 NPM1_uc003mbi.2... Hybrid_Cap...
NPR1 1 153665919 153665920 MV411_HAEMATOPO... 37 3'UTR Ins - C rs66682713 uc001fcs.3 NPR1_uc010pdz.1... Hybrid_Cap...
NR1H2 p.176_177insQ 19 50881822 50881823 MV411_HAEMATOPO... 37 In_Frame_Ins Ins - CAG rs61751954;rs1052533 uc010enw.2 NR1H2_uc002prv.... Hybrid_Cap...
PAX3 2 223158653 223158653 MV411_HAEMATOPO... 37 Intron Del T - rs112753212 uc002vmt.1 PAX3_uc002vmy.1... Hybrid_Cap...
PDE4DIP 1 144994874 144994874 MV411_HAEMATOPO... 37 5'UTR SNP C T uc001elw.3 NBPF10_uc009wir... Hybrid_Cap... view
PIK3C2G p.P129del 12 18435399 18435401 MV411_HAEMATOPO... 37 In_Frame_Del Del CCC - uc010sib.1 PIK3C2G_uc001rd... Hybrid_Cap...
PMS1 2 190670539 190670540 MV411_HAEMATOPO... 37 Intron Ins - A rs3214425 uc002urh.3 PMS1_uc010zga.1... Hybrid_Cap...
PRKDC p.L1244fs 8 48805816 48805817 MV411_HAEMATOPO... 37 Frame_Shift_Ins Ins - G rs67588121 uc003xqi.2 PRKDC_uc003xqj.... Hybrid_Cap...
RALB p.A138P 2 121047178 121047178 MV411_HAEMATOPO... 37 Missense_Mutation SNP G C uc010yys.1 RALB_uc002tmk.2... Hybrid_Cap... view
RECQL4 p.R766fs 8 145738768 145738768 MV411_HAEMATOPO... 37 Frame_Shift_Del Del G - uc003zdj.2 Hybrid_Cap...
RIF1 p.K923E 2 152314389 152314389 MV411_HAEMATOPO... 37 Missense_Mutation SNP A G uc002txm.2 RIF1_uc002txl.2... Hybrid_Cap... view
RNASEL 1 182556089 182556089 MV411_HAEMATOPO... 37 5'UTR SNP G A uc001gpj.1 RNASEL_uc009wxz... Hybrid_Cap... view
RPS6KA5 14 91360733 91360734 MV411_HAEMATOPO... 37 Intron Ins - T rs77438853 uc001xys.2 RPS6KA5_uc010tw... Hybrid_Cap...
SGK269 p.Q704R 15 77472158 77472158 MV411_HAEMATOPO... 37 Missense_Mutation SNP T C uc002bcm.2 SGK269_uc002bcn... Hybrid_Cap... view
SOX2 3 181431226 181431227 MV411_HAEMATOPO... 37 3'UTR Ins - A rs80135245 uc003fkx.2 SOX2OT_uc003fkv... Hybrid_Cap...
STK31 7 23872024 23872025 MV411_HAEMATOPO... 37 3'UTR Ins - TTTG rs66787534 uc003sws.3 STK31_uc003swt.... Hybrid_Cap...
TEC 4 48139307 48139310 MV411_HAEMATOPO... 37 3'UTR Del TTAT - rs79098351 uc003gxz.2 Hybrid_Cap...
TLE1 9 84202843 84202844 MV411_HAEMATOPO... 37 Intron Ins - TCATCCCGCC uc004alz.2 TLE1_uc004aly.2... Hybrid_Cap...
TLK1 2 171850178 171850179 MV411_HAEMATOPO... 37 3'UTR Ins - AA rs71008739 uc002ugo.2 TLK1_uc002ugn.2... Hybrid_Cap...
TMEM123 11 102269398 102269398 MV411_HAEMATOPO... 37 3'UTR Del G - uc001pha.2 TMEM123_uc009yx... Hybrid_Cap...
TRIM33 1 114940215 114940216 MV411_HAEMATOPO... 37 3'UTR Ins - G rs68133208 uc001eew.2 TRIM33_uc010owr... Hybrid_Cap...
UNC13C 15 54919410 54919410 MV411_HAEMATOPO... 37 3'UTR SNP G T uc002ack.2 UNC13C_uc002acm... Hybrid_Cap... view
VEGFC p.S419_splice 4 177605082 177605084 MV411_HAEMATOPO... 37 Splice_Site_Del Del TCA - uc003ius.1 Hybrid_Cap...
VPS13B 8 100887922 100887923 MV411_HAEMATOPO... 37 3'UTR Del TG - uc003yiv.2 VPS13B_uc003yiw... Hybrid_Cap...
ZNF521 p.E748Q 18 22805640 22805640 MV411_HAEMATOPO... 37 Missense_Mutation SNP C G uc002kvk.2 ZNF521_uc010xbe... Hybrid_Cap... view