Annotation Summary for Cell Line: KOPN-8  

Cell line primary name: KOPN-8
Cell line aliases:
Gender: F
Site Primary: haematopoietic_and_lymphoid_tissue
Histology: lymphoid_neoplasm
Hist Subtype1: acute_lymphoblastic_B_cell_leukaemia
Notes:
Source: DSMZ
Expression arrays: SILOS_p_NCLE_RNA9_HG-U133_Plus_2_H12_523484
SNP arrays: CHARY_p_NCLE_DNAAffy9_GenomeWideSNP_6_C05_490340
Oncomap: yes
Hybrid Capture Sequencing: yes


Mutations in KOPN-8

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 KOPN8_HAEMATOPO... 37 In_Frame_Del Del TGT - rs55712143 uc002sfp.2 AAK1_uc010fdk.2... Hybrid_Cap...
ADAM28 8 24211994 24211997 KOPN8_HAEMATOPO... 37 3'UTR Del CTAT - rs10610134 uc003xdy.2 ADAM28_uc011laa... Hybrid_Cap...
ADAMTS2 p.V714M 5 178559847 178559847 KOPN8_HAEMATOPO... 37 Missense_Mutation SNP C T uc003mjw.2 Hybrid_Cap... view
AKAP12 p.1531_1532insE 6 151674116 151674117 KOPN8_HAEMATOPO... 37 In_Frame_Ins Ins - GAG rs34737819 uc011eep.1 AKAP12_uc003qoe... Hybrid_Cap...
AKAP9 p.1335_1336insQ 7 91652178 91652179 KOPN8_HAEMATOPO... 37 In_Frame_Ins Ins - AAC rs34756483 uc003ulg.2 AKAP9_uc003ule.... Hybrid_Cap...
ATIC p.K199E 2 216191608 216191608 KOPN8_HAEMATOPO... 37 Missense_Mutation SNP A G uc002vex.3 ATIC_uc010zjo.1... Hybrid_Cap... view
ATR p.R109W 3 142281919 142281919 KOPN8_HAEMATOPO... 37 Missense_Mutation SNP G A uc003eux.3 Hybrid_Cap... view
BTK p.D460D X 100611843 100611843 KOPN8_HAEMATOPO... 37 Silent SNP G A uc010nno.2 BTK_uc004ehf.2_... Hybrid_Cap... view
CLTCL1 p.V1201_splice 22 19189003 19189004 KOPN8_HAEMATOPO... 37 Splice_Site_Ins Ins - C rs11386977 uc002zpb.2 CLTCL1_uc011agv... Hybrid_Cap...
CREB3L2 p.T100del 7 137612914 137612916 KOPN8_HAEMATOPO... 37 In_Frame_Del Del TGG - uc003vtw.2 CREB3L2_uc003vt... Hybrid_Cap...
CSMD3 p.D3293E 8 113267640 113267640 KOPN8_HAEMATOPO... 37 Missense_Mutation SNP G T uc003ynu.2 CSMD3_uc003yns.... Hybrid_Cap... view
DGKB 7 14216330 14216332 KOPN8_HAEMATOPO... 37 Intron Del AAC - uc003ssz.2 DGKB_uc011jxt.1... Hybrid_Cap...
DGKG p.C202F 3 185998523 185998523 KOPN8_HAEMATOPO... 37 Missense_Mutation SNP C A uc003fqa.2 DGKG_uc003fqb.2... Hybrid_Cap... view
DLL1 6 170591821 170591821 KOPN8_HAEMATOPO... 37 3'UTR SNP A C uc003qxm.2 Hybrid_Cap... view
DNAH8 p.R4366L 6 38994355 38994355 KOPN8_HAEMATOPO... 37 Missense_Mutation SNP G T uc003ooe.1 Hybrid_Cap... view
DSTYK p.L906F 1 205116760 205116760 KOPN8_HAEMATOPO... 37 Missense_Mutation SNP G A uc001hbw.2 DSTYK_uc001hbx.... Hybrid_Cap... view
EGF p.E1134fs 4 110932389 110932390 KOPN8_HAEMATOPO... 37 Frame_Shift_Ins Ins - C rs11569144 uc003hzy.3 EGF_uc011cfu.1_... Hybrid_Cap...
EIF2B5 3 183862821 183862821 KOPN8_HAEMATOPO... 37 3'UTR SNP T C uc003fmp.2 EIF2B5_uc003fmq... Hybrid_Cap... view
EIF3H p.R119P 8 117671195 117671195 KOPN8_HAEMATOPO... 37 Missense_Mutation SNP C G uc003yob.2 EIF3H_uc003yoa.... Hybrid_Cap... view
EPHA5 p.S674T 4 66231683 66231683 KOPN8_HAEMATOPO... 37 Missense_Mutation SNP A T rs56359290 uc011cah.1 EPHA5_uc003hcx.... Hybrid_Cap... view
ETV1 7 14028708 14028708 KOPN8_HAEMATOPO... 37 5'UTR Del A - rs77190713 uc011jxq.1 ETV1_uc011jxn.1... Hybrid_Cap...
FANCD2 p.Y1117F 3 10128832 10128832 KOPN8_HAEMATOPO... 37 Missense_Mutation SNP A T uc003buw.2 FANCD2_uc003bux... Hybrid_Cap... view
FGFR1OP 6 167453519 167453520 KOPN8_HAEMATOPO... 37 3'UTR Ins - T rs115519488 uc003qvj.2 CCR6_uc003qvl.2... Hybrid_Cap...
FLI1 11 128638217 128638217 KOPN8_HAEMATOPO... 37 Intron Del G - uc010sbu.1 FLI1_uc010sbt.1... Hybrid_Cap...
FLNA p.R1087C X 153588904 153588904 KOPN8_HAEMATOPO... 37 Missense_Mutation SNP G A uc004fkk.2 FLNA_uc011mzn.1... Hybrid_Cap... view
FMN2 p.PPLPGAGIPPP939del 1 240370914 240370946 KOPN8_HAEMATOPO... 37 In_Frame_Del Del GCCCC... - rs4997328;rs4997329 uc010pye.1 FMN2_uc010pyd.1... Hybrid_Cap...
FZD1 p.93_94insP 7 90894459 90894460 KOPN8_HAEMATOPO... 37 In_Frame_Ins Ins - CCG uc003ula.2 Hybrid_Cap...
GRIA3 X 122318386 122318387 KOPN8_HAEMATOPO... 37 Splice_Site_Ins Ins - G rs66632982 uc004etq.3 GRIA3_uc004etr.... Hybrid_Cap...
GUCY2C 12 14827464 14827466 KOPN8_HAEMATOPO... 37 Intron Del ATC - rs72525754;rs3083879 uc001rcd.2 GUCY2C_uc009zhz... Hybrid_Cap...
HNF1A 12 121434630 121434631 KOPN8_HAEMATOPO... 37 Intron Ins - TCATTCAT rs75100977 uc010szn.1 HNF1A_uc001tze.... Hybrid_Cap...
HSP90B1 p.E791del 12 104341188 104341190 KOPN8_HAEMATOPO... 37 In_Frame_Del Del GAA - rs117491163 uc001tkb.1 HSP90B1_uc010sw... Hybrid_Cap...
ILK 11 6630029 6630029 KOPN8_HAEMATOPO... 37 Intron Del C - uc001mee.2 ILK_uc001mef.2_... Hybrid_Cap...
ITPR2 p.R470_splice 12 26834804 26834805 KOPN8_HAEMATOPO... 37 Splice_Site_Ins Ins - ACTC rs66696203;rs59199365 uc001rhg.2 Hybrid_Cap...
KLK7 19 51480672 51480675 KOPN8_HAEMATOPO... 37 3'UTR Del GGTT - uc002puo.2 KLK7_uc002pup.2... Hybrid_Cap...
KRAS p.G12D 12 25398284 25398284 KOPN8_HAEMATOPO... 37 Missense_Mutation SNP C T uc001rgp.1 KRAS_uc001rgq.1... Hybrid_Cap... view
LATS2 13 21620222 21620223 KOPN8_HAEMATOPO... 37 5'UTR Ins - A rs61240127;rs115723063 uc009zzs.2 LATS2_uc001unr.... Hybrid_Cap...
LCK p.R139Q 1 32741208 32741208 KOPN8_HAEMATOPO... 37 Missense_Mutation SNP G A uc001buz.2 LCK_uc001bux.2_... Hybrid_Cap... view
MAF 16 79632621 79632621 KOPN8_HAEMATOPO... 37 Intron SNP G A uc002ffm.2 MAF_uc002ffn.2_... Hybrid_Cap... view
MAML3 p.Q767_splice 4 140651585 140651587 KOPN8_HAEMATOPO... 37 Splice_Site_Del Del CTG - uc003ihz.1 MGST2_uc010ioi.... Hybrid_Cap...
MAML3 p.638_640QQQ>Q 4 140810659 140810664 KOPN8_HAEMATOPO... 37 In_Frame_Del Del TGCTG... - uc003ihz.1 MAML3_uc011chd.... Hybrid_Cap...
MAP2K1 15 66679649 66679650 KOPN8_HAEMATOPO... 37 5'UTR Ins - C rs67229745 uc010bhq.2 Hybrid_Cap...
MAP3K14 p.R218_splice 17 43364293 43364294 KOPN8_HAEMATOPO... 37 Splice_Site_Ins Ins - G rs66766023 uc002iiw.1 MAP3K14_uc010da... Hybrid_Cap...
MAP3K14 p.L693V 17 43345022 43345022 KOPN8_HAEMATOPO... 37 Missense_Mutation SNP G C uc002iiw.1 LOC100133991_uc... Hybrid_Cap... view
MAST4 p.S1871del 5 66461181 66461183 KOPN8_HAEMATOPO... 37 In_Frame_Del Del CTC - uc003jut.1 MAST4_uc003juw.... Hybrid_Cap...
MDM4 p.T6T 1 204494664 204494664 KOPN8_HAEMATOPO... 37 Silent SNP C G uc001hba.2 MDM4_uc001hbd.1... Hybrid_Cap... view
MTMR11 1 149900881 149900881 KOPN8_HAEMATOPO... 37 3'UTR SNP G A uc001etl.3 SF3B4_uc001eti.... Hybrid_Cap... view
MYLK p.E1066del 3 123419117 123419119 KOPN8_HAEMATOPO... 37 In_Frame_Del Del TTC - rs72491150 uc003ego.2 MYLK_uc011bjw.1... Hybrid_Cap...
NCAM1 11 112832307 112832308 KOPN8_HAEMATOPO... 37 5'UTR Ins - A rs117108942 uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCAM1 11 112832340 112832340 KOPN8_HAEMATOPO... 37 5'UTR Del C - uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NEK3 p.K313_splice 13 52718050 52718051 KOPN8_HAEMATOPO... 37 Splice_Site_Ins Ins - T rs72514762 uc001vgh.2 NEK3_uc001vgg.2... Hybrid_Cap...
NOTCH4 p.15_16LL>L 6 32191659 32191661 KOPN8_HAEMATOPO... 37 In_Frame_Del Del AGC - uc003obb.2 NOTCH4_uc011dpu... Hybrid_Cap...
NPR1 1 153665919 153665920 KOPN8_HAEMATOPO... 37 3'UTR Ins - C rs66682713 uc001fcs.3 NPR1_uc010pdz.1... Hybrid_Cap...
NPRL2 3 50384978 50384978 KOPN8_HAEMATOPO... 37 3'UTR Del C - rs75013672 uc003daj.1 ZMYND10_uc003da... Hybrid_Cap...
NR1H2 p.176_177insQ 19 50881820 50881821 KOPN8_HAEMATOPO... 37 In_Frame_Ins Ins - AAC rs66783852;rs112359270 uc010enw.2 NR1H2_uc002prv.... Hybrid_Cap...
NR3C1 5 142659087 142659087 KOPN8_HAEMATOPO... 37 3'UTR SNP G A uc003lmy.2 NR3C1_uc003lmz.... Hybrid_Cap... view
NTRK2 9 87425591 87425591 KOPN8_HAEMATOPO... 37 Intron SNP G A uc004anz.1 NTRK2_uc004anv.... Hybrid_Cap... view
NUP214 p.T1355A 9 134072944 134072944 KOPN8_HAEMATOPO... 37 Missense_Mutation SNP A G uc004cag.2 NUP214_uc004cah... Hybrid_Cap... view
OBSCN p.R1037Q 1 228431064 228431064 KOPN8_HAEMATOPO... 37 Missense_Mutation SNP G A uc009xez.1 OBSCN_uc001hsn.... Hybrid_Cap... view
OR4E2 p.F113V 14 22133633 22133633 KOPN8_HAEMATOPO... 37 Missense_Mutation SNP T G uc010tmd.1 Hybrid_Cap... view
P2RX7 p.K583T 12 121622565 121622565 KOPN8_HAEMATOPO... 37 Missense_Mutation SNP A C uc001tzm.2 P2RX7_uc001tzn.... Hybrid_Cap... view
PAK1 p.S382L 11 77048440 77048440 KOPN8_HAEMATOPO... 37 Missense_Mutation SNP G A uc001oyg.3 PAK1_uc010rso.1... Hybrid_Cap... view
PALB2 p.E837K 16 23640966 23640966 KOPN8_HAEMATOPO... 37 Missense_Mutation SNP C T uc002dlx.1 Hybrid_Cap... view
PAX3 2 223066017 223066018 KOPN8_HAEMATOPO... 37 Intron Ins - C rs115619343 uc002vmt.1 PAX3_uc002vmy.1... Hybrid_Cap...
PAX5 9 37034095 37034095 KOPN8_HAEMATOPO... 37 5'UTR Del C - uc003zzo.1 PAX5_uc011lpw.1... Hybrid_Cap...
PAXIP1 p.T560M 7 154760232 154760232 KOPN8_HAEMATOPO... 37 Missense_Mutation SNP G A uc003wlp.2 PAXIP1_uc003wlq... Hybrid_Cap... view
PDE4DIP 1 144852415 144852415 KOPN8_HAEMATOPO... 37 3'UTR SNP T A uc001elw.3 NBPF10_uc009wir... Hybrid_Cap... view
PDE4DIP 1 144863620 144863620 KOPN8_HAEMATOPO... 37 Intron SNP A G uc001elw.3 NBPF10_uc009wir... Hybrid_Cap... view
PDE4DIP 1 144892080 144892080 KOPN8_HAEMATOPO... 37 Intron SNP C T uc001elw.3 NBPF10_uc009wir... Hybrid_Cap... view
PDIK1L p.R40L 1 26440918 26440918 KOPN8_HAEMATOPO... 37 Missense_Mutation SNP G T uc010oew.1 PDIK1L_uc001blj... Hybrid_Cap... view
PIK3C2A 11 17111198 17111199 KOPN8_HAEMATOPO... 37 3'UTR Del GT - uc001mmq.3 PIK3C2A_uc009yg... Hybrid_Cap...
PIK3C2G p.P129del 12 18435399 18435401 KOPN8_HAEMATOPO... 37 In_Frame_Del Del CCC - uc010sib.1 PIK3C2G_uc001rd... Hybrid_Cap...
PRKDC p.R2727* 8 48744461 48744461 KOPN8_HAEMATOPO... 37 Nonsense_Mutation SNP G A uc003xqi.2 PRKDC_uc003xqj.... Hybrid_Cap... view
PRKDC p.L1244fs 8 48805816 48805817 KOPN8_HAEMATOPO... 37 Frame_Shift_Ins Ins - G rs67588121 uc003xqi.2 PRKDC_uc003xqj.... Hybrid_Cap...
RASGRF1 15 79277150 79277151 KOPN8_HAEMATOPO... 37 Intron Ins - C rs67045840;rs77640668 uc002beq.2 RASGRF1_uc002be... Hybrid_Cap...
RECQL4 p.R766fs 8 145738768 145738768 KOPN8_HAEMATOPO... 37 Frame_Shift_Del Del G - uc003zdj.2 Hybrid_Cap...
RELA 11 65423023 65423023 KOPN8_HAEMATOPO... 37 Intron SNP G A rs76584376 uc010ron.1 RELA_uc001ofg.2... Hybrid_Cap... view
ROBO1 p.S500C 3 78719295 78719295 KOPN8_HAEMATOPO... 37 Missense_Mutation SNP G C uc003dqe.2 ROBO1_uc003dqb.... Hybrid_Cap... view
ROBO2 3 77666937 77666937 KOPN8_HAEMATOPO... 37 Intron Del A - rs78745603 uc003dpz.2 ROBO2_uc003dpy.... Hybrid_Cap...
ROCK2 p.K310N 2 11364525 11364525 KOPN8_HAEMATOPO... 37 Missense_Mutation SNP C A uc002rbd.1 Hybrid_Cap... view
ROR2 p.R738C 9 94486564 94486564 KOPN8_HAEMATOPO... 37 Missense_Mutation SNP G A rs56231927 uc004arj.1 ROR2_uc004ari.1... Hybrid_Cap... view
RPS6KL1 p.R58W 14 75388073 75388073 KOPN8_HAEMATOPO... 37 Missense_Mutation SNP G A uc010tux.1 RPS6KL1_uc001xq... Hybrid_Cap... view
SLK p.R891H 10 105768002 105768002 KOPN8_HAEMATOPO... 37 Missense_Mutation SNP G A uc001kxo.1 SLK_uc001kxp.1_... Hybrid_Cap... view
STARD3 p.G200S 17 37815025 37815025 KOPN8_HAEMATOPO... 37 Missense_Mutation SNP G A uc002hsd.2 STARD3_uc010weg... Hybrid_Cap... view
STAT5A 17 40462797 40462800 KOPN8_HAEMATOPO... 37 3'UTR Del TGTG - uc002hzj.1 STAT5A_uc010cya... Hybrid_Cap...
STK31 7 23872024 23872025 KOPN8_HAEMATOPO... 37 3'UTR Ins - TTTG rs66787534 uc003sws.3 STK31_uc003swt.... Hybrid_Cap...
TEC 4 48139307 48139310 KOPN8_HAEMATOPO... 37 3'UTR Del TTAT - rs79098351 uc003gxz.2 Hybrid_Cap...
TFDP1 13 114294603 114294603 KOPN8_HAEMATOPO... 37 3'UTR SNP C T uc001vtw.2 TFDP1_uc010tkd.... Hybrid_Cap... view
TP53 p.R248Q 17 7577538 7577538 KOPN8_HAEMATOPO... 37 Missense_Mutation SNP C T rs11540652 uc002gim.2 TP53_uc002gig.1... Hybrid_Cap... view
TP63 3 189507518 189507519 KOPN8_HAEMATOPO... 37 Intron Ins - AGAG rs62702062;rs79714037 uc003fry.2 TP63_uc003frx.2... Hybrid_Cap...
TPH1 p.K146R 11 18051092 18051092 KOPN8_HAEMATOPO... 37 Missense_Mutation SNP T C uc001mnp.2 TPH1_uc009yhe.2... Hybrid_Cap... view
TSC2 p.I1357L 16 2134292 2134292 KOPN8_HAEMATOPO... 37 Missense_Mutation SNP A C uc002con.2 TSC2_uc010bsd.2... Hybrid_Cap... view
TTN p.I32650T 2 179395689 179395689 KOPN8_HAEMATOPO... 37 Missense_Mutation SNP A G uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
TTN p.Q13303E 2 179482201 179482201 KOPN8_HAEMATOPO... 37 Missense_Mutation SNP G C uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
TTN p.A392V 2 179659719 179659719 KOPN8_HAEMATOPO... 37 Missense_Mutation SNP G A uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
VEGFC p.S419_splice 4 177605082 177605084 KOPN8_HAEMATOPO... 37 Splice_Site_Del Del TCA - uc003ius.1 Hybrid_Cap...
WAS p.P112R X 48543997 48543997 KOPN8_HAEMATOPO... 37 Missense_Mutation SNP C G uc004dkm.3 Hybrid_Cap... view