Annotation Summary for Cell Line: P12-ICHIKAWA  

Cell line primary name: P12-ICHIKAWA
Cell line aliases:
Gender: M
Site Primary: haematopoietic_and_lymphoid_tissue
Histology: lymphoid_neoplasm
Hist Subtype1: acute_lymphoblastic_T_cell_leukaemia
Notes:
Source: DSMZ
Expression arrays: WATCH_p_NCLE_RNA8_HG-U133_Plus_2_C06_474620
SNP arrays: CHARY_p_NCLE_DNAAffy9_GenomeWideSNP_6_A03_490392
Oncomap: yes
Hybrid Capture Sequencing: yes


Mutations in P12-ICHIKAWA

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 P12ICHIKAWA_HAE... 37 In_Frame_Del Del TGT - rs55712143 uc002sfp.2 AAK1_uc010fdk.2... Hybrid_Cap...
ADAM28 8 24211994 24211997 P12ICHIKAWA_HAE... 37 3'UTR Del CTAT - rs10610134 uc003xdy.2 ADAM28_uc011laa... Hybrid_Cap...
ADAMTS2 p.V1128I 5 178541122 178541122 P12ICHIKAWA_HAE... 37 Missense_Mutation SNP C T uc003mjw.2 Hybrid_Cap... view
ADAMTS2 p.R507W 5 178579253 178579253 P12ICHIKAWA_HAE... 37 Missense_Mutation SNP G A uc003mjw.2 ADAMTS2_uc011dg... Hybrid_Cap... view
AKAP12 p.1531_1532insE 6 151674116 151674117 P12ICHIKAWA_HAE... 37 In_Frame_Ins Ins - GAG rs34737819 uc011eep.1 AKAP12_uc003qoe... Hybrid_Cap...
AKAP9 p.R1117C 7 91641773 91641773 P12ICHIKAWA_HAE... 37 Missense_Mutation SNP C T uc003ulg.2 AKAP9_uc003ule.... Hybrid_Cap... view
C6ORF97 p.M660I 6 151939114 151939114 P12ICHIKAWA_HAE... 37 Missense_Mutation SNP G T uc003qol.2 Hybrid_Cap... view
CCNA2 p.V72_splice 4 122743803 122743804 P12ICHIKAWA_HAE... 37 Splice_Site_Ins Ins - A uc003iec.3 Hybrid_Cap...
CDK11B 1 1654066 1654068 P12ICHIKAWA_HAE... 37 Intron Del GCG - uc001agv.1 CDK11B_uc001aha... Hybrid_Cap...
CDKL2 4 76551186 76551186 P12ICHIKAWA_HAE... 37 5'UTR SNP C A uc011cbp.1 CDKL2_uc003hiq.... Hybrid_Cap... view
CHRNA5 15 78885615 78885616 P12ICHIKAWA_HAE... 37 3'UTR Ins - TA rs72534078 uc002bdy.2 CHRNA3_uc002bea... Hybrid_Cap...
CLTCL1 p.V1201_splice 22 19189003 19189004 P12ICHIKAWA_HAE... 37 Splice_Site_Ins Ins - C rs11386977 uc002zpb.2 CLTCL1_uc011agv... Hybrid_Cap...
COL14A1 p.K231R 8 121210149 121210149 P12ICHIKAWA_HAE... 37 Missense_Mutation SNP A G uc003yox.2 COL14A1_uc003yo... Hybrid_Cap... view
COL14A1 p.V399M 8 121220474 121220474 P12ICHIKAWA_HAE... 37 Missense_Mutation SNP G A rs114665145 uc003yox.2 COL14A1_uc003yo... Hybrid_Cap... view
CREB3L2 p.T100del 7 137612914 137612916 P12ICHIKAWA_HAE... 37 In_Frame_Del Del TGG - uc003vtw.2 CREB3L2_uc003vt... Hybrid_Cap...
CUBN p.R651G 10 17127755 17127755 P12ICHIKAWA_HAE... 37 Missense_Mutation SNP G C rs117275869 uc001ioo.2 Hybrid_Cap... view
DUSP6 12 89745856 89745856 P12ICHIKAWA_HAE... 37 5'UTR SNP C T uc001tay.2 DUSP6_uc001taz.... Hybrid_Cap... view
EDN1 p.G36R 6 12292615 12292615 P12ICHIKAWA_HAE... 37 Missense_Mutation SNP G A uc003nae.3 EDN1_uc010jpb.2... Hybrid_Cap... view
EGFR 7 55224558 55224558 P12ICHIKAWA_HAE... 37 Intron SNP G T uc003tqk.2 EGFR_uc003tqh.2... Hybrid_Cap... view
EIF2AK3 2 88857223 88857223 P12ICHIKAWA_HAE... 37 3'UTR SNP C G uc002stc.3 Hybrid_Cap... view
EPHA3 p.Y278S 3 89390084 89390084 P12ICHIKAWA_HAE... 37 Missense_Mutation SNP A C uc003dqy.2 EPHA3_uc003dqx.... Hybrid_Cap... view
EPHA5 p.S674T 4 66231683 66231683 P12ICHIKAWA_HAE... 37 Missense_Mutation SNP A T rs56359290 uc011cah.1 EPHA5_uc003hcx.... Hybrid_Cap... view
EPHA6 3 97367230 97367231 P12ICHIKAWA_HAE... 37 Intron Ins - A rs115253553 uc010how.1 EPHA6_uc003drs.... Hybrid_Cap...
ETV1 7 14028708 14028708 P12ICHIKAWA_HAE... 37 5'UTR Del A - rs77190713 uc011jxq.1 ETV1_uc011jxn.1... Hybrid_Cap...
ETV5 p.P395A 3 185775016 185775016 P12ICHIKAWA_HAE... 37 Missense_Mutation SNP G C uc003fpy.2 ETV5_uc003fpz.2... Hybrid_Cap... view
FASN p.A2398S 17 80037439 80037439 P12ICHIKAWA_HAE... 37 Missense_Mutation SNP C A uc002kdu.2 FASN_uc002kdv.1... Hybrid_Cap... view
FBXW7 p.R505C 4 153247289 153247289 P12ICHIKAWA_HAE... 37 Missense_Mutation SNP G A uc003ims.2 FBXW7_uc011cii.... Hybrid_Cap... view
FGFR3 4 1809128 1809129 P12ICHIKAWA_HAE... 37 3'UTR Del GT - uc003gdu.2 FGFR3_uc003gdr.... Hybrid_Cap...
FLNA p.D115G X 153599270 153599270 P12ICHIKAWA_HAE... 37 Missense_Mutation SNP T C uc004fkk.2 FLNA_uc010nuu.1... Hybrid_Cap... view
FLT4 5 180035183 180035185 P12ICHIKAWA_HAE... 37 Intron Del AGT - uc003mlz.3 FLT4_uc003mma.3... Hybrid_Cap...
FOXO4 p.D53H X 70316535 70316535 P12ICHIKAWA_HAE... 37 Missense_Mutation SNP G C uc004dys.1 FOXO4_uc010nkz.... Hybrid_Cap... view
FOXP1 3 71008341 71008342 P12ICHIKAWA_HAE... 37 3'UTR Ins - T rs11433724;rs114233617 uc003dol.2 FOXP1_uc003dom.... Hybrid_Cap...
GPR112 p.D2657del X 135474445 135474447 P12ICHIKAWA_HAE... 37 In_Frame_Del Del GAT - rs3030295 uc004ezu.1 GPR112_uc010nsb... Hybrid_Cap...
GRIA3 X 122318386 122318387 P12ICHIKAWA_HAE... 37 Splice_Site_Ins Ins - G rs66632982 uc004etq.3 GRIA3_uc004etr.... Hybrid_Cap...
GRK7 p.S297L 3 141499493 141499493 P12ICHIKAWA_HAE... 37 Missense_Mutation SNP C T uc011bnd.1 Hybrid_Cap... view
HAPLN1 p.R166* 5 82940461 82940461 P12ICHIKAWA_HAE... 37 Nonsense_Mutation SNP G A uc003kim.2 HAPLN1_uc003kin... Hybrid_Cap... view
HNF1A 12 121434630 121434631 P12ICHIKAWA_HAE... 37 Intron Ins - TCATTCAT rs75100977 uc010szn.1 HNF1A_uc001tze.... Hybrid_Cap...
HSP90AA1 p.K363del 14 102551276 102551278 P12ICHIKAWA_HAE... 37 In_Frame_Del Del TTT - uc001ykv.3 HSP90AA1_uc001y... Hybrid_Cap...
HSP90B1 p.E791del 12 104341188 104341190 P12ICHIKAWA_HAE... 37 In_Frame_Del Del GAA - rs117491163 uc001tkb.1 HSP90B1_uc010sw... Hybrid_Cap...
ICAM1 19 10381807 10381807 P12ICHIKAWA_HAE... 37 5'UTR SNP C A uc002mnq.2 ICAM1_uc010xle.... Hybrid_Cap... view
ILK 11 6630029 6630029 P12ICHIKAWA_HAE... 37 Intron Del C - uc001mee.2 ILK_uc001mef.2_... Hybrid_Cap...
KALRN p.N2973S 3 124438274 124438274 P12ICHIKAWA_HAE... 37 Missense_Mutation SNP A G rs16835896 uc003ehg.2 KALRN_uc003ehk.... Hybrid_Cap... view
KLK7 19 51480672 51480675 P12ICHIKAWA_HAE... 37 3'UTR Del GGTT - uc002puo.2 KLK7_uc002pup.2... Hybrid_Cap...
LAMA1 p.P46L 18 7080381 7080381 P12ICHIKAWA_HAE... 37 Missense_Mutation SNP G A uc002knm.2 LAMA1_uc010wzj.... Hybrid_Cap... view
LAMA1 p.V1622A 18 6995387 6995387 P12ICHIKAWA_HAE... 37 Missense_Mutation SNP A G uc002knm.2 LAMA1_uc010wzj.... Hybrid_Cap... view
LAMA1 p.K1599T 18 6997751 6997751 P12ICHIKAWA_HAE... 37 Missense_Mutation SNP T G uc002knm.2 LAMA1_uc010wzj.... Hybrid_Cap... view
MAML2 p.E367K 11 95826096 95826096 P12ICHIKAWA_HAE... 37 Missense_Mutation SNP C T uc001pfw.1 Hybrid_Cap... view
MAML3 p.Q767_splice 4 140651585 140651587 P12ICHIKAWA_HAE... 37 Splice_Site_Del Del CTG - uc003ihz.1 MGST2_uc010ioi.... Hybrid_Cap...
MAP2K1 15 66679649 66679650 P12ICHIKAWA_HAE... 37 5'UTR Ins - C rs67229745 uc010bhq.2 Hybrid_Cap...
MAP3K1 p.T949del 5 56177849 56177851 P12ICHIKAWA_HAE... 37 In_Frame_Del Del CAA - uc003jqw.3 Hybrid_Cap...
MAP3K14 p.R218_splice 17 43364293 43364294 P12ICHIKAWA_HAE... 37 Splice_Site_Ins Ins - G rs66766023 uc002iiw.1 MAP3K14_uc010da... Hybrid_Cap...
MLLT4 p.F629L 6 168312020 168312020 P12ICHIKAWA_HAE... 37 Missense_Mutation SNP T C uc003qwd.2 MLLT4_uc003qwb.... Hybrid_Cap... view
MYLK3 p.D435H 16 46766279 46766279 P12ICHIKAWA_HAE... 37 Missense_Mutation SNP C G uc002eei.3 MYLK3_uc010vge.... Hybrid_Cap... view
MYO18B p.P63A 22 26159345 26159345 P12ICHIKAWA_HAE... 37 Missense_Mutation SNP C G uc003abz.1 MYO18B_uc003aca... Hybrid_Cap... view
NCAM1 11 112832307 112832308 P12ICHIKAWA_HAE... 37 5'UTR Ins - A rs117108942 uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCAM1 11 112832340 112832340 P12ICHIKAWA_HAE... 37 5'UTR Del C - uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NEK3 p.K313_splice 13 52718050 52718051 P12ICHIKAWA_HAE... 37 Splice_Site_Ins Ins - T rs72514762 uc001vgh.2 NEK3_uc001vgg.2... Hybrid_Cap...
NIPBL 5 37064122 37064122 P12ICHIKAWA_HAE... 37 Intron SNP G C uc003jkl.3 NIPBL_uc003jkk.... Hybrid_Cap... view
NOTCH1 p.E383K 9 139412697 139412697 P12ICHIKAWA_HAE... 37 Missense_Mutation SNP C T uc004chz.2 Hybrid_Cap... view
NPR1 1 153665919 153665920 P12ICHIKAWA_HAE... 37 3'UTR Ins - C rs66682713 uc001fcs.3 NPR1_uc010pdz.1... Hybrid_Cap...
NPRL2 3 50384978 50384978 P12ICHIKAWA_HAE... 37 3'UTR Del C - rs75013672 uc003daj.1 ZMYND10_uc003da... Hybrid_Cap...
NR1H2 p.176_177insQ 19 50881820 50881821 P12ICHIKAWA_HAE... 37 In_Frame_Ins Ins - AAC rs66783852;rs112359270 uc010enw.2 NR1H2_uc002prv.... Hybrid_Cap...
NRAS p.G12D 1 115258747 115258747 P12ICHIKAWA_HAE... 37 Missense_Mutation SNP C T uc009wgu.2 Hybrid_Cap... view
NYNRIN p.E1003D 14 24883964 24883964 P12ICHIKAWA_HAE... 37 Missense_Mutation SNP G T uc001wpf.3 Hybrid_Cap... view
OBSCN p.S7232F 1 228560174 228560174 P12ICHIKAWA_HAE... 37 Missense_Mutation SNP C T uc009xez.1 OBSCN_uc001hsr.... Hybrid_Cap... view
P2RX7 p.P582S 12 121622561 121622561 P12ICHIKAWA_HAE... 37 Missense_Mutation SNP C T uc001tzm.2 P2RX7_uc001tzn.... Hybrid_Cap... view
PAPPA p.N165K 9 118949512 118949512 P12ICHIKAWA_HAE... 37 Missense_Mutation SNP C A uc004bjn.2 PAPPA_uc011lxp.... Hybrid_Cap... view
PAX3 2 223066017 223066018 P12ICHIKAWA_HAE... 37 Intron Ins - C rs115619343 uc002vmt.1 PAX3_uc002vmy.1... Hybrid_Cap...
PIK3C2A 11 17111198 17111199 P12ICHIKAWA_HAE... 37 3'UTR Del GT - uc001mmq.3 PIK3C2A_uc009yg... Hybrid_Cap...
PIP5K1B p.K397R 9 71538291 71538291 P12ICHIKAWA_HAE... 37 Missense_Mutation SNP A G uc004agu.2 PIP5K1B_uc011lr... Hybrid_Cap... view
PRKCA 17 64298959 64298960 P12ICHIKAWA_HAE... 37 5'UTR Ins - G rs71160558 uc002jfp.1 PRKCA_uc002jfo.... Hybrid_Cap...
PRKDC p.L1244fs 8 48805816 48805817 P12ICHIKAWA_HAE... 37 Frame_Shift_Ins Ins - G rs67588121 uc003xqi.2 PRKDC_uc003xqj.... Hybrid_Cap...
PTEN p.W274* 10 89720670 89720670 P12ICHIKAWA_HAE... 37 Nonsense_Mutation SNP G A uc001kfb.2 Hybrid_Cap... view
PTPRD p.G888E 9 8486154 8486154 P12ICHIKAWA_HAE... 37 Missense_Mutation SNP C T uc003zkk.2 PTPRD_uc003zkp.... Hybrid_Cap... view
RAD50 5 131892941 131892941 P12ICHIKAWA_HAE... 37 De_novo_Start_OutOfFrame SNP G A uc003kxi.2 RAD50_uc003kxg.... Hybrid_Cap... view
RAD51 15 41023440 41023440 P12ICHIKAWA_HAE... 37 3'UTR SNP C T uc010bbx.2 RAD51_uc001zmi.... Hybrid_Cap... view
RECQL4 p.R766fs 8 145738768 145738768 P12ICHIKAWA_HAE... 37 Frame_Shift_Del Del G - uc003zdj.2 Hybrid_Cap...
RIPK1 6 3077022 3077022 P12ICHIKAWA_HAE... 37 5'UTR SNP A T uc010jni.2 RIPK1_uc003muv.... Hybrid_Cap... view
ROBO1 p.D298E 3 78766448 78766448 P12ICHIKAWA_HAE... 37 Missense_Mutation SNP A C uc003dqe.2 ROBO1_uc003dqb.... Hybrid_Cap... view
ROBO2 3 77666937 77666937 P12ICHIKAWA_HAE... 37 Intron Del A - rs78745603 uc003dpz.2 ROBO2_uc003dpy.... Hybrid_Cap...
RPS6KL1 14 75373626 75373627 P12ICHIKAWA_HAE... 37 3'UTR Ins - TGAT uc001xqx.1 RPS6KL1_uc001xq... Hybrid_Cap...
RUNX1 p.H85N 21 36259238 36259238 P12ICHIKAWA_HAE... 37 Missense_Mutation SNP G T uc010gmu.2 RUNX1_uc002yut.... Hybrid_Cap... view
SLC22A3 p.G180C 6 160828077 160828077 P12ICHIKAWA_HAE... 37 Missense_Mutation SNP G T uc003qti.2 SLC22A3_uc011ef... Hybrid_Cap... view
SMAD4 p.E175K 18 48581219 48581219 P12ICHIKAWA_HAE... 37 Missense_Mutation SNP G A uc010xdp.1 SMAD4_uc010xdo.... Hybrid_Cap... view
STAT5A 17 40462797 40462800 P12ICHIKAWA_HAE... 37 3'UTR Del TGTG - uc002hzj.1 STAT5A_uc010cya... Hybrid_Cap...
STK25 2 242435659 242435662 P12ICHIKAWA_HAE... 37 Intron Del AAGG - rs3215138;rs75497042 uc002wbm.2 STK25_uc002wbk.... Hybrid_Cap...
STK39 p.G221S 2 168997236 168997236 P12ICHIKAWA_HAE... 37 Missense_Mutation SNP C T uc002uea.2 Hybrid_Cap... view
SULF2 p.R176Q 20 46331303 46331303 P12ICHIKAWA_HAE... 37 Missense_Mutation SNP C T uc002xto.2 SULF2_uc002xtr.... Hybrid_Cap... view
TIAM1 p.A1205T 21 32513685 32513685 P12ICHIKAWA_HAE... 37 Missense_Mutation SNP C T uc002yow.1 TIAM1_uc011adk.... Hybrid_Cap... view
TP53 p.R248Q 17 7577538 7577538 P12ICHIKAWA_HAE... 37 Missense_Mutation SNP C T rs11540652 uc002gim.2 TP53_uc002gig.1... Hybrid_Cap... view
TP53 p.E11Q 17 7579882 7579882 P12ICHIKAWA_HAE... 37 Missense_Mutation SNP C G uc002gim.2 TP53_uc002gig.1... Hybrid_Cap... view
TP63 3 189507518 189507519 P12ICHIKAWA_HAE... 37 Intron Ins - AGAG rs62702062;rs79714037 uc003fry.2 TP63_uc003frx.2... Hybrid_Cap...
TTN 2 179391639 179391640 P12ICHIKAWA_HAE... 37 3'UTR Ins - T rs36037175 uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap...
TTN p.D29805Y 2 179407464 179407464 P12ICHIKAWA_HAE... 37 Missense_Mutation SNP C A uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
TTN p.L20497S 2 179441868 179441868 P12ICHIKAWA_HAE... 37 Missense_Mutation SNP A G uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
TTN p.I18098T 2 179454455 179454455 P12ICHIKAWA_HAE... 37 Missense_Mutation SNP A G uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
TTN p.E17681* 2 179455707 179455707 P12ICHIKAWA_HAE... 37 Nonsense_Mutation SNP C A uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
VEGFC p.S419_splice 4 177605082 177605084 P12ICHIKAWA_HAE... 37 Splice_Site_Del Del TCA - uc003ius.1 Hybrid_Cap...
WHSC1L1 p.S590A 8 38178631 38178631 P12ICHIKAWA_HAE... 37 Missense_Mutation SNP A C uc003xli.2 WHSC1L1_uc011lb... Hybrid_Cap... view
WNK4 p.P916P 17 40947187 40947187 P12ICHIKAWA_HAE... 37 Silent SNP C T uc002ibj.2 WNK4_uc010wgx.1... Hybrid_Cap... view
YAP1 p.S499G 11 102100651 102100651 P12ICHIKAWA_HAE... 37 Missense_Mutation SNP A G uc001pgt.2 YAP1_uc001pgs.2... Hybrid_Cap... view