Annotation Summary for Cell Line: K-562  

Cell line primary name: K-562
Cell line aliases:
Gender: F
Site Primary: haematopoietic_and_lymphoid_tissue
Histology: haematopoietic_neoplasm
Hist Subtype1: blast_phase_chronic_myeloid_leukaemia
Notes:
Source: ATCC
Expression arrays: PARES_p_NCLE_RNA_Redo_HG-U133_Plus_2_B12_257644
SNP arrays: LIMPS_p_NCLE_DNA2N_GenomeWideSNP_6_C01_246658
Oncomap: yes
Hybrid Capture Sequencing: yes


Mutations in K-562

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 K562_HAEMATOPOI... 37 In_Frame_Del Del TGT - rs55712143 uc002sfp.2 AAK1_uc010fdk.2... Hybrid_Cap...
ADAM22 p.F412_splice 7 87763642 87763642 K562_HAEMATOPOI... 37 Splice_Site_SNP SNP A T uc003ujp.1 ADAM22_uc003ujk... Hybrid_Cap... view
ADAM22 p.D561E 7 87778333 87778333 K562_HAEMATOPOI... 37 Missense_Mutation SNP T G uc003ujp.1 ADAM22_uc003ujk... Hybrid_Cap... view
ADAM28 8 24211994 24211997 K562_HAEMATOPOI... 37 3'UTR Del CTAT - rs10610134 uc003xdy.2 ADAM28_uc011laa... Hybrid_Cap...
AKAP12 p.1531_1532insE 6 151674116 151674117 K562_HAEMATOPOI... 37 In_Frame_Ins Ins - GAG rs34737819 uc011eep.1 AKAP12_uc003qoe... Hybrid_Cap...
AKT3 p.G37* 1 243858956 243858956 K562_HAEMATOPOI... 37 Nonsense_Mutation SNP C A uc001iab.1 AKT3_uc001hzz.1... Hybrid_Cap... view
ALPK2 p.P682fs 18 56205373 56205374 K562_HAEMATOPOI... 37 Frame_Shift_Ins Ins - G uc002lhj.3 ALPK2_uc002lhk.... Hybrid_Cap...
ASPH p.A264_splice 8 62550924 62550925 K562_HAEMATOPOI... 37 Splice_Site_Ins Ins - A rs5891816 uc003xuj.2 ASPH_uc011leg.1... Hybrid_Cap...
BRDT p.R536* 1 92446579 92446579 K562_HAEMATOPOI... 37 Nonsense_Mutation SNP C T uc010osz.1 BRDT_uc001dok.3... Hybrid_Cap... view
BRSK2 p.G461S 11 1471022 1471022 K562_HAEMATOPOI... 37 Missense_Mutation SNP G A uc001ltm.2 BRSK2_uc009ycv.... Hybrid_Cap... view
C15ORF2 15 24924588 24924588 K562_HAEMATOPOI... 37 3'UTR SNP C T uc001ywo.2 Hybrid_Cap... view
CBL p.D792H 11 119169190 119169190 K562_HAEMATOPOI... 37 Missense_Mutation SNP G C uc001pwe.2 Hybrid_Cap... view
CDC42BPG 11 64591867 64591867 K562_HAEMATOPOI... 37 3'UTR SNP G A uc001obs.3 Hybrid_Cap... view
CDH2 p.S691L 18 25565101 25565101 K562_HAEMATOPOI... 37 Missense_Mutation SNP G A uc002kwg.2 CDH2_uc010xbn.1... Hybrid_Cap... view
CDH2 p.Y345C 18 25573588 25573588 K562_HAEMATOPOI... 37 Missense_Mutation SNP T C uc002kwg.2 CDH2_uc010xbn.1... Hybrid_Cap... view
CHD1 p.P1684del 5 98192165 98192167 K562_HAEMATOPOI... 37 In_Frame_Del Del AGG - rs79267787;rs61749618 uc003knf.2 CHD1_uc010jbn.2... Hybrid_Cap...
CHD5 p.1626_1627EK>DQ 1 6181198 6181199 K562_HAEMATOPOI... 37 Missense_Mutation DNP TC GA uc001amb.1 CHD5_uc001alz.1... Hybrid_Cap...
CHD5 p.F892S 1 6196598 6196598 K562_HAEMATOPOI... 37 Missense_Mutation SNP A G uc001amb.1 CHD5_uc001ama.1... Hybrid_Cap... view
CIT p.E469Q 12 120221852 120221852 K562_HAEMATOPOI... 37 Missense_Mutation SNP C G uc001txj.1 CIT_uc001txh.1_... Hybrid_Cap... view
CLTCL1 p.V1201_splice 22 19189003 19189004 K562_HAEMATOPOI... 37 Splice_Site_Ins Ins - C rs11386977 uc002zpb.2 CLTCL1_uc011agv... Hybrid_Cap...
CREB3L2 p.T100del 7 137612914 137612916 K562_HAEMATOPOI... 37 In_Frame_Del Del TGG - uc003vtw.2 CREB3L2_uc003vt... Hybrid_Cap...
CSMD3 p.F1516L 8 113562916 113562916 K562_HAEMATOPOI... 37 Missense_Mutation SNP A C uc003ynu.2 CSMD3_uc003yns.... Hybrid_Cap... view
CTBP2 p.K974fs 10 126678123 126678123 K562_HAEMATOPOI... 37 Frame_Shift_Del Del T - uc001lie.3 CTBP2_uc009yak.... Hybrid_Cap...
CXCL12 10 44873992 44873993 K562_HAEMATOPOI... 37 Intron Ins - CT rs117617571 uc001jbh.2 CXCL12_uc001jbf... Hybrid_Cap...
DNAH8 6 38952247 38952250 K562_HAEMATOPOI... 37 Intron Del CACA - uc003ooe.1 DNAH8_uc003oog.... Hybrid_Cap...
DST p.M4809I 6 56354381 56354381 K562_HAEMATOPOI... 37 Missense_Mutation SNP C G uc003pdf.2 DST_uc003pcz.3_... Hybrid_Cap... view
DYRK1A 21 38884966 38884967 K562_HAEMATOPOI... 37 3'UTR Ins - T rs72430212 uc002ywk.2 DYRK1A_uc002ywi... Hybrid_Cap...
EIF3A p.K765I 10 120810736 120810736 K562_HAEMATOPOI... 37 Missense_Mutation SNP T A uc001ldu.2 EIF3A_uc010qsu.... Hybrid_Cap... view
EPHA6 3 97367230 97367231 K562_HAEMATOPOI... 37 Intron Ins - A rs115253553 uc010how.1 EPHA6_uc003drs.... Hybrid_Cap...
ETV1 7 14028708 14028708 K562_HAEMATOPOI... 37 5'UTR Del A - rs77190713 uc011jxq.1 ETV1_uc011jxn.1... Hybrid_Cap...
FAM118A 22 45736388 45736388 K562_HAEMATOPOI... 37 3'UTR SNP C T uc003bfz.3 FAM118A_uc003bg... Hybrid_Cap... view
FGFR3 4 1809128 1809129 K562_HAEMATOPOI... 37 3'UTR Del GT - uc003gdu.2 FGFR3_uc003gdr.... Hybrid_Cap...
FLI1 11 128638217 128638217 K562_HAEMATOPOI... 37 Intron Del G - uc010sbu.1 FLI1_uc010sbt.1... Hybrid_Cap...
FZD1 p.93_94insP 7 90894459 90894460 K562_HAEMATOPOI... 37 In_Frame_Ins Ins - CCG uc003ula.2 Hybrid_Cap...
GCK 7 44184604 44184605 K562_HAEMATOPOI... 37 3'UTR Ins - G uc003tkk.1 GCK_uc003tkh.1_... Hybrid_Cap...
GCK 7 44198722 44198722 K562_HAEMATOPOI... 37 5'UTR SNP C T uc003tkk.1 GCK_uc003tkj.1_... Hybrid_Cap... view
GPR112 p.D2657del X 135474445 135474447 K562_HAEMATOPOI... 37 In_Frame_Del Del GAT - rs3030295 uc004ezu.1 GPR112_uc010nsb... Hybrid_Cap...
GRIA3 X 122318386 122318387 K562_HAEMATOPOI... 37 Splice_Site_Ins Ins - G rs66632982 uc004etq.3 GRIA3_uc004etr.... Hybrid_Cap...
HDAC8 p.L160L X 71715076 71715076 K562_HAEMATOPOI... 37 Silent SNP C A uc004eau.2 HDAC8_uc011mqe.... Hybrid_Cap... view
HDLBP p.R226S 2 242195793 242195794 K562_HAEMATOPOI... 37 Missense_Mutation DNP GC AA uc002waz.2 HDLBP_uc002wba.... Hybrid_Cap...
HNF1A 12 121434630 121434631 K562_HAEMATOPOI... 37 Intron Ins - TCATTCAT rs75100977 uc010szn.1 HNF1A_uc001tze.... Hybrid_Cap...
HOXA9 p.D192N 7 27204503 27204503 K562_HAEMATOPOI... 37 Missense_Mutation SNP C T uc003syt.2 Hybrid_Cap... view
HOXD11 p.E294K 2 176973733 176973733 K562_HAEMATOPOI... 37 Missense_Mutation SNP G A uc002uki.2 HOXD11_uc010fqx... Hybrid_Cap... view
IL21R 16 27460779 27460780 K562_HAEMATOPOI... 37 3'UTR Ins - TG rs66690088 uc002doq.1 IL21R_uc002dor.... Hybrid_Cap...
ILK 11 6630029 6630029 K562_HAEMATOPOI... 37 Intron Del C - uc001mee.2 ILK_uc001mef.2_... Hybrid_Cap...
ITGB4 p.A1033V 17 73739929 73739929 K562_HAEMATOPOI... 37 Missense_Mutation SNP C T uc002jpg.2 ITGB4_uc002jph.... Hybrid_Cap... view
ITGB6 p.N463S 2 160994217 160994217 K562_HAEMATOPOI... 37 Missense_Mutation SNP T C uc002ubh.2 ITGB6_uc010fou.... Hybrid_Cap... view
ITPR2 p.G2257_splice 12 26589152 26589152 K562_HAEMATOPOI... 37 Splice_Site_SNP SNP G T uc001rhg.2 ITPR2_uc009zjg.... Hybrid_Cap... view
JUND 19 18391142 18391143 K562_HAEMATOPOI... 37 3'UTR Ins - G rs71816628 uc002nip.2 Hybrid_Cap...
KLK7 19 51480672 51480675 K562_HAEMATOPOI... 37 3'UTR Del GGTT - uc002puo.2 KLK7_uc002pup.2... Hybrid_Cap...
LRRC7 p.P728T 1 70503803 70503803 K562_HAEMATOPOI... 37 Missense_Mutation SNP C A uc001dep.2 LRRC7_uc009wbg.... Hybrid_Cap... view
LSP1 p.G180S 11 1901417 1901417 K562_HAEMATOPOI... 37 Missense_Mutation SNP G A uc001luj.2 LSP1_uc001lui.2... Hybrid_Cap... view
MAF 16 79628537 79628537 K562_HAEMATOPOI... 37 Intron Del T - uc002ffm.2 MAF_uc002ffn.2_... Hybrid_Cap...
MAML3 p.Q767_splice 4 140651585 140651587 K562_HAEMATOPOI... 37 Splice_Site_Del Del CTG - uc003ihz.1 MGST2_uc010ioi.... Hybrid_Cap...
MAP3K1 p.T949del 5 56177849 56177851 K562_HAEMATOPOI... 37 In_Frame_Del Del CAA - uc003jqw.3 Hybrid_Cap...
MAP3K14 p.R218_splice 17 43364293 43364294 K562_HAEMATOPOI... 37 Splice_Site_Ins Ins - G rs66766023 uc002iiw.1 MAP3K14_uc010da... Hybrid_Cap...
MAP3K2 p.L89_splice 2 128088083 128088083 K562_HAEMATOPOI... 37 Splice_Site_SNP SNP T A uc002toj.1 MAP3K2_uc010flz... Hybrid_Cap... view
MAP4K5 p.A257P 14 50930820 50930820 K562_HAEMATOPOI... 37 Missense_Mutation SNP C G uc001wya.2 MAP4K5_uc001wyb... Hybrid_Cap... view
MAPKBP1 15 42111753 42111754 K562_HAEMATOPOI... 37 Intron Ins - C rs3034891 uc001zok.3 MAPKBP1_uc001zo... Hybrid_Cap...
MN1 p.533_533Q>QQ 22 28194933 28194934 K562_HAEMATOPOI... 37 In_Frame_Ins Ins - TGC rs45480998 uc003adj.2 Hybrid_Cap...
MSH3 p.PPA66del 5 79950742 79950750 K562_HAEMATOPOI... 37 In_Frame_Del Del CCCCC... - rs60484572;rs1047489 uc003kgz.2 DHFR_uc011ctl.1... Hybrid_Cap...
MTMR11 1 149900874 149900874 K562_HAEMATOPOI... 37 3'UTR SNP T A uc001etl.3 SF3B4_uc001eti.... Hybrid_Cap... view
MYO18B p.E1932A 22 26346379 26346379 K562_HAEMATOPOI... 37 Missense_Mutation SNP A C uc003abz.1 MYO18B_uc003aca... Hybrid_Cap... view
MYST3 p.R1877C 8 41790109 41790109 K562_HAEMATOPOI... 37 Missense_Mutation SNP G A uc010lxb.2 MYST3_uc010lxc.... Hybrid_Cap... view
MYT1 20 62871860 62871861 K562_HAEMATOPOI... 37 3'UTR Ins - CCGCA uc002yii.2 MYT1_uc002yij.2... Hybrid_Cap...
NCAM1 11 112832307 112832308 K562_HAEMATOPOI... 37 5'UTR Ins - A rs117108942 uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCAM1 11 112832340 112832340 K562_HAEMATOPOI... 37 5'UTR Del C - uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCOA3 p.Q1276del 20 46279864 46279866 K562_HAEMATOPOI... 37 In_Frame_Del Del CAA - rs1132443;rs28529067 uc002xtk.2 NCOA3_uc010ght.... Hybrid_Cap...
NCOA4 10 51589252 51589252 K562_HAEMATOPOI... 37 3'UTR SNP A G uc009xon.2 PARG_uc001jih.2... Hybrid_Cap... view
NEK11 3 130893613 130893613 K562_HAEMATOPOI... 37 Intron SNP A T uc003eny.2 NEK11_uc003enx.... Hybrid_Cap... view
NEK3 p.K313_splice 13 52718050 52718051 K562_HAEMATOPOI... 37 Splice_Site_Ins Ins - T rs72514762 uc001vgh.2 NEK3_uc001vgg.2... Hybrid_Cap...
NOTCH1 p.G326V 9 139413165 139413165 K562_HAEMATOPOI... 37 Missense_Mutation SNP C A uc004chz.2 Hybrid_Cap... view
NR1H2 p.176_177insQ 19 50881822 50881823 K562_HAEMATOPOI... 37 In_Frame_Ins Ins - CAG rs61751954;rs1052533 uc010enw.2 NR1H2_uc002prv.... Hybrid_Cap...
OBSCN p.S5208F 1 228511278 228511278 K562_HAEMATOPOI... 37 Missense_Mutation SNP C T uc009xez.1 OBSCN_uc001hsn.... Hybrid_Cap... view
P4HB p.R345L 17 79804327 79804327 K562_HAEMATOPOI... 37 Missense_Mutation SNP C A uc002kbn.1 P4HB_uc002kbl.1... Hybrid_Cap... view
PDGFRA p.Q551_splice 4 55140793 55140793 K562_HAEMATOPOI... 37 Splice_Site_SNP SNP G A uc003han.3 PDGFRA_uc003haa... Hybrid_Cap... view
PML 15 74326772 74326772 K562_HAEMATOPOI... 37 Intron SNP C T uc002awv.2 PML_uc002awm.2_... Hybrid_Cap... view
PML 15 74327683 74327683 K562_HAEMATOPOI... 37 Intron SNP C T uc002awv.2 PML_uc002awm.2_... Hybrid_Cap... view
PNCK X 152938410 152938411 K562_HAEMATOPOI... 37 Intron Del AC - uc011myu.1 PNCK_uc011myt.1... Hybrid_Cap...
PRKCB p.G294E 16 24124353 24124353 K562_HAEMATOPOI... 37 Missense_Mutation SNP G A uc002dme.2 PRKCB_uc002dmd.... Hybrid_Cap... view
PRKDC p.L1244fs 8 48805816 48805817 K562_HAEMATOPOI... 37 Frame_Shift_Ins Ins - G rs67588121 uc003xqi.2 PRKDC_uc003xqj.... Hybrid_Cap...
PTK6 20 62164170 62164170 K562_HAEMATOPOI... 37 Intron Del C - uc002yfg.2 PTK6_uc011aay.1... Hybrid_Cap...
RARB p.G110G 3 25542675 25542675 K562_HAEMATOPOI... 37 Silent SNP C A uc011awl.1 RARB_uc003cdi.1... Hybrid_Cap... view
RARB p.R144L 3 25542776 25542776 K562_HAEMATOPOI... 37 Missense_Mutation SNP G T uc011awl.1 RARB_uc003cdi.1... Hybrid_Cap... view
RECQL4 p.R766fs 8 145738768 145738768 K562_HAEMATOPOI... 37 Frame_Shift_Del Del G - uc003zdj.2 Hybrid_Cap...
RIMS2 p.G155* 8 104778530 104778530 K562_HAEMATOPOI... 37 Nonsense_Mutation SNP G T uc003ylp.2 Hybrid_Cap... view
ROR1 p.N765H 1 64644017 64644017 K562_HAEMATOPOI... 37 Missense_Mutation SNP A C uc001dbj.2 Hybrid_Cap... view
ROS1 p.R360I 6 117715410 117715410 K562_HAEMATOPOI... 37 Missense_Mutation SNP C A uc003pxp.1 ROS1_uc011ebi.1... Hybrid_Cap... view
RPS6KA4 p.L326V 11 64132842 64132842 K562_HAEMATOPOI... 37 Missense_Mutation SNP C G uc001oae.2 RPS6KA4_uc001oa... Hybrid_Cap... view
RPS6KL1 14 75373626 75373627 K562_HAEMATOPOI... 37 3'UTR Ins - TGAT uc001xqx.1 RPS6KL1_uc001xq... Hybrid_Cap...
SIK1 p.P188R 21 44841184 44841184 K562_HAEMATOPOI... 37 Missense_Mutation SNP G C uc002zdf.2 Hybrid_Cap... view
SLCO4A1 p.R171C 20 61288317 61288317 K562_HAEMATOPOI... 37 Missense_Mutation SNP C T uc002ydb.1 SLCO4A1_uc002yd... Hybrid_Cap... view
SOX10 p.L144M 22 38374141 38374141 K562_HAEMATOPOI... 37 Missense_Mutation SNP G T uc003aun.1 POLR2F_uc003aum... Hybrid_Cap... view
STK10 p.E68K 5 171583747 171583747 K562_HAEMATOPOI... 37 Missense_Mutation SNP C T uc003mbo.1 Hybrid_Cap... view
STK31 7 23872024 23872025 K562_HAEMATOPOI... 37 3'UTR Ins - TTTG rs66787534 uc003sws.3 STK31_uc003swt.... Hybrid_Cap...
TACC3 4 1739519 1739527 K562_HAEMATOPOI... 37 Intron Del GCCAT... - rs114226356 uc003gdo.2 TACC3_uc010ibz.... Hybrid_Cap...
TEC 4 48139307 48139310 K562_HAEMATOPOI... 37 3'UTR Del TTAT - rs79098351 uc003gxz.2 Hybrid_Cap...
TIAM1 p.L906M 21 32554909 32554909 K562_HAEMATOPOI... 37 Missense_Mutation SNP G T uc002yow.1 TIAM1_uc011adk.... Hybrid_Cap... view
TNFRSF9 p.M1T 1 8000053 8000053 K562_HAEMATOPOI... 37 Missense_Mutation SNP A G uc001aot.2 Hybrid_Cap... view
TNRC6B p.Q1328del 22 40697177 40697179 K562_HAEMATOPOI... 37 In_Frame_Del Del GCA - rs114291931 uc011aor.1 TNRC6B_uc003aym... Hybrid_Cap...
TP53 p.Q136fs 17 7578523 7578524 K562_HAEMATOPOI... 37 Frame_Shift_Ins Ins - G uc002gim.2 TP53_uc002gig.1... Hybrid_Cap...
TRIM33 1 114940215 114940216 K562_HAEMATOPOI... 37 3'UTR Ins - G rs68133208 uc001eew.2 TRIM33_uc010owr... Hybrid_Cap...
TRPM6 p.A638S 9 77416911 77416911 K562_HAEMATOPOI... 37 Missense_Mutation SNP C A uc004ajl.1 TRPM6_uc004ajk.... Hybrid_Cap... view
TRRAP p.F173C 7 98495374 98495374 K562_HAEMATOPOI... 37 Missense_Mutation SNP T G uc003upp.2 TRRAP_uc011kis.... Hybrid_Cap... view
TSC2 16 2138671 2138672 K562_HAEMATOPOI... 37 3'UTR Del AA - uc002con.2 TSC2_uc010bsd.2... Hybrid_Cap...
TTN 2 179612786 179612786 K562_HAEMATOPOI... 37 Intron SNP T G uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
TTN p.M2923I 2 179634539 179634539 K562_HAEMATOPOI... 37 Missense_Mutation SNP C G uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
VEGFC p.S419_splice 4 177605082 177605084 K562_HAEMATOPOI... 37 Splice_Site_Del Del TCA - uc003ius.1 Hybrid_Cap...
WHSC1 p.R600* 4 1941422 1941422 K562_HAEMATOPOI... 37 Nonsense_Mutation SNP C T uc003gdz.3 WHSC1_uc003geb.... Hybrid_Cap... view
ZNF608 p.G1015A 5 123983033 123983033 K562_HAEMATOPOI... 37 Missense_Mutation SNP C G uc003ktq.1 ZNF608_uc003ktr... Hybrid_Cap... view
ZNF668 p.R556P 16 31072582 31072582 K562_HAEMATOPOI... 37 Missense_Mutation SNP C G uc010caf.2 ZNF668_uc002eao... Hybrid_Cap... view