Annotation Summary for Cell Line: BV-173  

Cell line primary name: BV-173
Cell line aliases:
Gender: M
Site Primary: haematopoietic_and_lymphoid_tissue
Histology: haematopoietic_neoplasm
Hist Subtype1: blast_phase_chronic_myeloid_leukaemia
Notes:
Source: DSMZ
Expression arrays: SILOS_p_NCLE_RNA9_HG-U133_Plus_2_F08_523462
SNP arrays: MISTS_p_NCLE_DNAAffy11_GenomeWideSNP_6_D04_578460
Oncomap: yes
Hybrid Capture Sequencing: yes


Mutations in BV-173

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 BV173_HAEMATOPO... 37 In_Frame_Del Del TGT - rs55712143 uc002sfp.2 AAK1_uc010fdk.2... Hybrid_Cap...
ADAM17 2 9630245 9630245 BV173_HAEMATOPO... 37 3'UTR Del T - uc002qzu.2 IAH1_uc010yiz.1... Hybrid_Cap...
ADAM28 8 24211994 24211997 BV173_HAEMATOPO... 37 3'UTR Del CTAT - rs10610134 uc003xdy.2 ADAM28_uc011laa... Hybrid_Cap...
AKAP12 p.1531_1532insE 6 151674116 151674117 BV173_HAEMATOPO... 37 In_Frame_Ins Ins - GAG rs34737819 uc011eep.1 AKAP12_uc003qoe... Hybrid_Cap...
AKAP9 p.1335_1336insQ 7 91652178 91652179 BV173_HAEMATOPO... 37 In_Frame_Ins Ins - AAC rs34756483 uc003ulg.2 AKAP9_uc003ule.... Hybrid_Cap...
ALPK1 4 113347609 113347610 BV173_HAEMATOPO... 37 Intron Ins - T rs68137453 uc003iap.3 ALPK1_uc003ian.... Hybrid_Cap...
ALPK1 p.S942del 4 113353523 113353525 BV173_HAEMATOPO... 37 In_Frame_Del Del TTC - uc003iap.3 ALPK1_uc003ian.... Hybrid_Cap...
ALPK2 p.EDTST1006del 18 56204388 56204402 BV173_HAEMATOPO... 37 In_Frame_Del Del CAGTT... - rs60644017;rs117623369 uc002lhj.3 ALPK2_uc002lhk.... Hybrid_Cap...
ATP13A5 p.W57fs 3 193081962 193081962 BV173_HAEMATOPO... 37 Frame_Shift_Del Del C - uc011bsq.1 Hybrid_Cap...
CACNB2 10 18828721 18828722 BV173_HAEMATOPO... 37 3'UTR Ins - AA rs3841459 uc001ipr.2 CACNB2_uc009xjz... Hybrid_Cap...
CASP4 p.I254T 11 104820290 104820290 BV173_HAEMATOPO... 37 Missense_Mutation SNP A G uc001pid.1 CASP4_uc001pib.... Hybrid_Cap... view
CDK11B 1 1654066 1654068 BV173_HAEMATOPO... 37 Intron Del GCG - uc001agv.1 CDK11B_uc001aha... Hybrid_Cap...
CDK8 p.L152V 13 26928015 26928015 BV173_HAEMATOPO... 37 Missense_Mutation SNP T G uc001uqr.1 CDK8_uc001uqs.1... Hybrid_Cap... view
CHD9 p.A2648V 16 53358056 53358056 BV173_HAEMATOPO... 37 Missense_Mutation SNP C T uc002ehb.2 CHD9_uc002egy.2... Hybrid_Cap... view
CLTCL1 p.V1201_splice 22 19189003 19189004 BV173_HAEMATOPO... 37 Splice_Site_Ins Ins - C rs11386977 uc002zpb.2 CLTCL1_uc011agv... Hybrid_Cap...
CREBBP p.M1625L 16 3781794 3781794 BV173_HAEMATOPO... 37 Missense_Mutation SNP T A uc002cvv.2 CREBBP_uc002cvw... Hybrid_Cap... view
CXCL12 10 44873992 44873993 BV173_HAEMATOPO... 37 Intron Ins - CT rs117617571 uc001jbh.2 CXCL12_uc001jbf... Hybrid_Cap...
CYP3A4 p.L339V 7 99361489 99361489 BV173_HAEMATOPO... 37 Missense_Mutation SNP A C uc003urv.1 CYP3A4_uc003urw... Hybrid_Cap... view
DACH1 13 72014625 72014626 BV173_HAEMATOPO... 37 3'UTR Ins - T rs117109529 uc010thn.1 DACH1_uc010tho.... Hybrid_Cap...
DAPK1 9 90265153 90265153 BV173_HAEMATOPO... 37 Intron SNP C T uc004apc.2 DAPK1_uc004ape.... Hybrid_Cap... view
DCLK1 p.R184W 13 36686179 36686179 BV173_HAEMATOPO... 37 Missense_Mutation SNP G A uc001uvf.2 Hybrid_Cap... view
DPYD p.M599T 1 97915724 97915724 BV173_HAEMATOPO... 37 Missense_Mutation SNP A G uc001drv.2 Hybrid_Cap... view
EP300 22 41574970 41574972 BV173_HAEMATOPO... 37 3'UTR Del GTA - rs76489032 uc003azl.3 Hybrid_Cap...
EPHA6 3 97367230 97367231 BV173_HAEMATOPO... 37 Intron Ins - A rs115253553 uc010how.1 EPHA6_uc003drs.... Hybrid_Cap...
EPS15 1 51822189 51822189 BV173_HAEMATOPO... 37 3'UTR Del A - uc001csq.1 EPS15_uc009vyz.... Hybrid_Cap...
EXT1 8 118811807 118811807 BV173_HAEMATOPO... 37 3'UTR Del T - uc003yok.1 Hybrid_Cap...
FASN 17 80046760 80046760 BV173_HAEMATOPO... 37 Intron SNP C T uc002kdu.2 FASN_uc002kdw.1... Hybrid_Cap... view
FGFR1OP 6 167453519 167453520 BV173_HAEMATOPO... 37 3'UTR Ins - T rs115519488 uc003qvj.2 CCR6_uc003qvl.2... Hybrid_Cap...
FLI1 11 128638217 128638217 BV173_HAEMATOPO... 37 Intron Del G - uc010sbu.1 FLI1_uc010sbt.1... Hybrid_Cap...
FN1 2 216244182 216244185 BV173_HAEMATOPO... 37 Intron Del GTAC - uc002vfa.2 FN1_uc002vfb.2_... Hybrid_Cap...
GPC3 X 132888208 132888208 BV173_HAEMATOPO... 37 Intron Del A - uc010nrn.1 GPC3_uc004exd.1... Hybrid_Cap...
GPR112 p.D2657del X 135474445 135474447 BV173_HAEMATOPO... 37 In_Frame_Del Del GAT - rs3030295 uc004ezu.1 GPR112_uc010nsb... Hybrid_Cap...
GRIA3 X 122318386 122318387 BV173_HAEMATOPO... 37 Splice_Site_Ins Ins - G rs66632982 uc004etq.3 GRIA3_uc004etr.... Hybrid_Cap...
GUCY2C 12 14827464 14827466 BV173_HAEMATOPO... 37 Intron Del ATC - rs72525754;rs3083879 uc001rcd.2 GUCY2C_uc009zhz... Hybrid_Cap...
HIF1A 14 62213929 62213930 BV173_HAEMATOPO... 37 3'UTR Ins - T rs67890419 uc001xfs.2 HIF1A_uc001xfq.... Hybrid_Cap...
HSP90B1 p.E791del 12 104341188 104341190 BV173_HAEMATOPO... 37 In_Frame_Del Del GAA - rs117491163 uc001tkb.1 HSP90B1_uc010sw... Hybrid_Cap...
ICAM1 p.A2T 19 10381839 10381839 BV173_HAEMATOPO... 37 Missense_Mutation SNP G A uc002mnq.2 ICAM1_uc010xle.... Hybrid_Cap... view
IL2RA p.R264T 10 6060019 6060019 BV173_HAEMATOPO... 37 Missense_Mutation SNP C G uc001iiz.1 IL2RA_uc009xih.... Hybrid_Cap... view
ILK 11 6630029 6630029 BV173_HAEMATOPO... 37 Intron Del C - uc001mee.2 ILK_uc001mef.2_... Hybrid_Cap...
ITGB1 10 33197131 33197134 BV173_HAEMATOPO... 37 Intron Del CTTT - rs116966876 uc001iwq.3 ITGB1_uc001iwp.... Hybrid_Cap...
ITGB1 p.E339* 10 33211591 33211591 BV173_HAEMATOPO... 37 Nonsense_Mutation SNP C A uc001iwq.3 ITGB1_uc001iwp.... Hybrid_Cap... view
KIAA1804 1 233511629 233511629 BV173_HAEMATOPO... 37 Intron SNP T C uc001hvt.3 KIAA1804_uc001h... Hybrid_Cap... view
LATS1 6 149997325 149997325 BV173_HAEMATOPO... 37 Intron SNP G C uc003qmu.1 LATS1_uc010kif.... Hybrid_Cap... view
LETM2 8 38265999 38265999 BV173_HAEMATOPO... 37 3'UTR SNP A T uc003xlm.1 LETM2_uc003xll.... Hybrid_Cap... view
LRRC7 p.R595C 1 70493956 70493956 BV173_HAEMATOPO... 37 Missense_Mutation SNP C T uc001dep.2 LRRC7_uc009wbg.... Hybrid_Cap... view
MAF 16 79628537 79628537 BV173_HAEMATOPO... 37 Intron Del T - uc002ffm.2 MAF_uc002ffn.2_... Hybrid_Cap...
MAML2 p.K88fs 11 96074791 96074798 BV173_HAEMATOPO... 37 Frame_Shift_Del Del CCAGC... - uc001pfw.1 Hybrid_Cap...
MAML3 p.Q767_splice 4 140651585 140651587 BV173_HAEMATOPO... 37 Splice_Site_Del Del CTG - uc003ihz.1 MGST2_uc010ioi.... Hybrid_Cap...
MAP2K6 17 67516341 67516341 BV173_HAEMATOPO... 37 Intron Del T - uc002jij.2 MAP2K6_uc002jii... Hybrid_Cap...
MAP3K1 p.T949del 5 56177849 56177851 BV173_HAEMATOPO... 37 In_Frame_Del Del CAA - uc003jqw.3 Hybrid_Cap...
MAP3K14 p.R218_splice 17 43364293 43364294 BV173_HAEMATOPO... 37 Splice_Site_Ins Ins - G rs66766023 uc002iiw.1 MAP3K14_uc010da... Hybrid_Cap...
MAP3K5 p.988_989insD 6 136913666 136913667 BV173_HAEMATOPO... 37 In_Frame_Ins Ins - GTC uc003qhc.2 MAP3K5_uc011edj... Hybrid_Cap...
MAPK14 p.E71K 6 36020570 36020570 BV173_HAEMATOPO... 37 Missense_Mutation SNP G A uc003olp.2 MAPK14_uc011dth... Hybrid_Cap... view
MECOM 3 169381262 169381262 BV173_HAEMATOPO... 37 5'UTR SNP G C rs10581416 uc011bpj.1 MECOM_uc011bpk.... Hybrid_Cap... view
MSH3 p.PPA66del 5 79950742 79950750 BV173_HAEMATOPO... 37 In_Frame_Del Del CCCCC... - rs60484572;rs1047489 uc003kgz.2 DHFR_uc011ctl.1... Hybrid_Cap...
MSH5 6 31725828 31725828 BV173_HAEMATOPO... 37 Intron SNP C T rs114343636 uc003nwt.1 MSH5_uc003nwu.1... Hybrid_Cap... view
MTMR11 1 149902541 149902541 BV173_HAEMATOPO... 37 Intron SNP C A uc001etl.3 SF3B4_uc001etj.... Hybrid_Cap... view
NAV3 p.S1823N 12 78573413 78573413 BV173_HAEMATOPO... 37 Missense_Mutation SNP G A uc001syp.2 NAV3_uc001syo.2... Hybrid_Cap... view
NCAM1 11 112832307 112832308 BV173_HAEMATOPO... 37 5'UTR Ins - A rs117108942 uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCAM1 11 112832340 112832340 BV173_HAEMATOPO... 37 5'UTR Del C - uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCOA3 p.Q1276del 20 46279837 46279839 BV173_HAEMATOPO... 37 In_Frame_Del Del CAG - rs2664555 uc002xtk.2 NCOA3_uc010ght.... Hybrid_Cap...
NCOA3 20 46282339 46282340 BV173_HAEMATOPO... 37 3'UTR Ins - AT uc002xtk.2 NCOA3_uc002xtl.... Hybrid_Cap...
NF1 p.E445K 17 29533330 29533330 BV173_HAEMATOPO... 37 Missense_Mutation SNP G A uc002hgg.2 NF1_uc002hge.1_... Hybrid_Cap... view
NFIA 1 61921185 61921186 BV173_HAEMATOPO... 37 3'UTR Ins - T rs57270124;rs76131997 uc010oos.1 NFIA_uc001czy.2... Hybrid_Cap...
NOTCH4 p.G545S 6 32185035 32185035 BV173_HAEMATOPO... 37 Missense_Mutation SNP C T uc003obb.2 NOTCH4_uc011dpu... Hybrid_Cap... view
NPR1 1 153665919 153665920 BV173_HAEMATOPO... 37 3'UTR Ins - C rs66682713 uc001fcs.3 NPR1_uc010pdz.1... Hybrid_Cap...
NR1H2 p.176_177insQ 19 50881820 50881821 BV173_HAEMATOPO... 37 In_Frame_Ins Ins - AAC rs66783852;rs112359270 uc010enw.2 NR1H2_uc002prv.... Hybrid_Cap...
NR1H2 p.176_177insQ 19 50881822 50881823 BV173_HAEMATOPO... 37 In_Frame_Ins Ins - CAG rs61751954;rs1052533 uc010enw.2 NR1H2_uc002prv.... Hybrid_Cap...
PDK4 7 95221928 95221928 BV173_HAEMATOPO... 37 Intron Del A - uc003uoa.2 PDK4_uc003unz.2... Hybrid_Cap...
PGR 11 100933598 100933599 BV173_HAEMATOPO... 37 Intron Ins - AATGA rs35148438 uc001pgh.2 PGR_uc001pgg.2_... Hybrid_Cap...
PIK3C2G p.P129del 12 18435399 18435401 BV173_HAEMATOPO... 37 In_Frame_Del Del CCC - uc010sib.1 PIK3C2G_uc001rd... Hybrid_Cap...
PKHD1 p.V568I 6 51920519 51920519 BV173_HAEMATOPO... 37 Missense_Mutation SNP C T uc003pah.1 PKHD1_uc003pai.... Hybrid_Cap... view
PKN2 1 89299197 89299197 BV173_HAEMATOPO... 37 3'UTR SNP T C uc001dmn.2 PKN2_uc010osp.1... Hybrid_Cap... view
PORCN X 48370399 48370399 BV173_HAEMATOPO... 37 Intron SNP C T uc010nie.1 PORCN_uc004djr.... Hybrid_Cap... view
PRKDC p.L1244fs 8 48805816 48805817 BV173_HAEMATOPO... 37 Frame_Shift_Ins Ins - G rs67588121 uc003xqi.2 PRKDC_uc003xqj.... Hybrid_Cap...
PTPN1 p.Q157* 20 49191168 49191168 BV173_HAEMATOPO... 37 Nonsense_Mutation SNP C T uc002xvl.2 PTPN1_uc010zys.... Hybrid_Cap... view
PTPRT p.T863M 20 40790143 40790143 BV173_HAEMATOPO... 37 Missense_Mutation SNP G A uc010ggj.2 PTPRT_uc002xkg.... Hybrid_Cap... view
RAP1GDS1 4 99363349 99363353 BV173_HAEMATOPO... 37 3'UTR Del TACCA - uc003htw.3 RAP1GDS1_uc003h... Hybrid_Cap...
RECQL4 p.R766fs 8 145738768 145738768 BV173_HAEMATOPO... 37 Frame_Shift_Del Del G - uc003zdj.2 Hybrid_Cap...
RGL4 p.R129C 22 24034867 24034867 BV173_HAEMATOPO... 37 Missense_Mutation SNP C T uc002zxn.2 LOC91316_uc002z... Hybrid_Cap... view
RPS6KA5 14 91360733 91360734 BV173_HAEMATOPO... 37 Intron Ins - T rs77438853 uc001xys.2 RPS6KA5_uc010tw... Hybrid_Cap...
SIK3 p.G536R 11 116741075 116741075 BV173_HAEMATOPO... 37 Missense_Mutation SNP C T uc001ppy.2 SIK3_uc001ppz.2... Hybrid_Cap... view
SORL1 p.V1616L 11 121476178 121476178 BV173_HAEMATOPO... 37 Missense_Mutation SNP G C uc001pxx.2 SORL1_uc010rzp.... Hybrid_Cap... view
STK31 7 23872024 23872025 BV173_HAEMATOPO... 37 3'UTR Ins - TTTG rs66787534 uc003sws.3 STK31_uc003swt.... Hybrid_Cap...
TCF12 p.G331V 15 57526262 57526262 BV173_HAEMATOPO... 37 Missense_Mutation SNP G T uc002aea.2 TCF12_uc010ugm.... Hybrid_Cap... view
TCF21 6 134210497 134210498 BV173_HAEMATOPO... 37 5'UTR Ins - TCTC rs35199378 uc003qei.3 TCF21_uc003qej.... Hybrid_Cap...
TEC 4 48139307 48139310 BV173_HAEMATOPO... 37 3'UTR Del TTAT - rs79098351 uc003gxz.2 Hybrid_Cap...
TLK1 2 171850178 171850179 BV173_HAEMATOPO... 37 3'UTR Ins - AA rs71008739 uc002ugo.2 TLK1_uc002ugn.2... Hybrid_Cap...
TMEM123 11 102269398 102269398 BV173_HAEMATOPO... 37 3'UTR Del G - uc001pha.2 TMEM123_uc009yx... Hybrid_Cap...
TMEM200A 6 130763087 130763087 BV173_HAEMATOPO... 37 3'UTR SNP C T uc003qca.2 TMEM200A_uc010k... Hybrid_Cap... view
TNFRSF13B p.S144* 17 16852066 16852066 BV173_HAEMATOPO... 37 Nonsense_Mutation SNP G C rs104894650 uc002gqs.1 TNFRSF13B_uc010... Hybrid_Cap... view
TP63 3 189507518 189507519 BV173_HAEMATOPO... 37 Intron Ins - AGAG rs62702062;rs79714037 uc003fry.2 TP63_uc003frx.2... Hybrid_Cap...
TTBK2 p.V217M 15 43103933 43103933 BV173_HAEMATOPO... 37 Missense_Mutation SNP C T uc001zqo.2 TTBK2_uc010bcy.... Hybrid_Cap... view
UNC13C p.T1586I 15 54685289 54685289 BV173_HAEMATOPO... 37 Missense_Mutation SNP C T uc002ack.2 UNC13C_uc002acl... Hybrid_Cap... view
URB2 p.H179R 1 229770896 229770896 BV173_HAEMATOPO... 37 Missense_Mutation SNP A G uc001hts.1 URB2_uc009xfd.1... Hybrid_Cap... view
VDAC1 p.T211I 5 133311632 133311632 BV173_HAEMATOPO... 37 Missense_Mutation SNP G A uc003kyp.1 VDAC1_uc003kyq.... Hybrid_Cap... view
VEGFC p.S419_splice 4 177605082 177605084 BV173_HAEMATOPO... 37 Splice_Site_Del Del TCA - uc003ius.1 Hybrid_Cap...