Annotation Summary for Cell Line: AU565  

Cell line primary name: AU565
Cell line aliases:
Gender: F
Site Primary: breast
Histology: carcinoma
Hist Subtype1: NS
Notes: Metastatic pair: SK-BR-3 and AU565 are from the same patient
Source: ATCC
Expression arrays: CASED_p_NCLE_RNA4_HG-U133_Plus_2_B02_383772
SNP arrays: FASTS_p_NCLE_DNAAffy4_S_GenomeWideSNP_6_C05_335244
Oncomap: yes
Hybrid Capture Sequencing: yes


Mutations in AU565

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 AU565_BREAST 37 In_Frame_Del Del TGT - rs55712143 uc002sfp.2 AAK1_uc010fdk.2... Hybrid_Cap...
AATK p.G974R 17 79094816 79094816 AU565_BREAST 37 Missense_Mutation SNP C T uc010dia.2 AATK_uc010dhz.2... Hybrid_Cap... view
ACACA p.A89A 17 35687184 35687184 AU565_BREAST 37 Silent SNP A C uc002hno.2 ACACA_uc002hnm.... Hybrid_Cap... view
ADAM17 2 9630245 9630245 AU565_BREAST 37 3'UTR Del T - uc002qzu.2 IAH1_uc010yiz.1... Hybrid_Cap...
ADAM28 8 24211994 24211997 AU565_BREAST 37 3'UTR Del CTAT - rs10610134 uc003xdy.2 ADAM28_uc011laa... Hybrid_Cap...
ADAMTSL3 p.G1338R 15 84683332 84683332 AU565_BREAST 37 Missense_Mutation SNP G C uc002bjz.3 ADAMTSL3_uc010b... Hybrid_Cap... view
AFF1 p.K980T 4 88048830 88048830 AU565_BREAST 37 Missense_Mutation SNP A C uc011ccz.1 AFF1_uc003hqj.3... Hybrid_Cap... view
AKAP12 p.1531_1532insE 6 151674116 151674117 AU565_BREAST 37 In_Frame_Ins Ins - GAG rs34737819 uc011eep.1 AKAP12_uc003qoe... Hybrid_Cap...
AKAP9 p.1335_1336insQ 7 91652178 91652179 AU565_BREAST 37 In_Frame_Ins Ins - AAC rs34756483 uc003ulg.2 AKAP9_uc003ule.... Hybrid_Cap...
ALS2 p.E1557Q 2 202569881 202569881 AU565_BREAST 37 Missense_Mutation SNP C G uc002uyo.2 ALS2_uc010ftl.2... Hybrid_Cap... view
BCR p.E1161D 22 23656180 23656180 AU565_BREAST 37 Missense_Mutation SNP G C uc002zww.2 BCR_uc002zwx.2_... Hybrid_Cap... view
BMP2K p.E233V 4 79768371 79768371 AU565_BREAST 37 Missense_Mutation SNP A T uc003hlk.2 BMP2K_uc010ijl.... Hybrid_Cap... view
BMPR2 p.T578A 2 203420120 203420120 AU565_BREAST 37 Missense_Mutation SNP A G uc002uzf.3 BMPR2_uc010ftr.... Hybrid_Cap... view
BTG1 12 92537706 92537707 AU565_BREAST 37 3'UTR Ins - T rs33983967 uc001tby.3 BTG1_uc001tbv.1... Hybrid_Cap...
BUB1B p.A46G 15 40457355 40457355 AU565_BREAST 37 Missense_Mutation SNP C G uc001zkx.3 Hybrid_Cap... view
CABC1 1 227171585 227171585 AU565_BREAST 37 Intron Del T - uc001hqm.1 CABC1_uc001hqn.... Hybrid_Cap...
CACNB2 10 18828721 18828722 AU565_BREAST 37 3'UTR Ins - AA rs3841459 uc001ipr.2 CACNB2_uc009xjz... Hybrid_Cap...
CCL3 17 34415967 34415967 AU565_BREAST 37 3'UTR SNP C A uc002hkv.2 Hybrid_Cap... view
CCNA1 p.P237S 13 37012820 37012820 AU565_BREAST 37 Missense_Mutation SNP C T uc001uvr.3 CCNA1_uc010teo.... Hybrid_Cap... view
CDK11B 1 1654066 1654068 AU565_BREAST 37 Intron Del GCG - uc001agv.1 CDK11B_uc001aha... Hybrid_Cap...
CDK13 p.A484A 7 40027438 40027438 AU565_BREAST 37 Silent SNP C G uc003thh.3 CDK13_uc003thi.... Hybrid_Cap... view
CDK18 1 205495890 205495891 AU565_BREAST 37 Intron Del CT - uc001hcr.2 CDK18_uc010pri.... Hybrid_Cap...
CDKL5 p.E170* X 18602427 18602427 AU565_BREAST 37 Nonsense_Mutation SNP G T uc004cym.2 CDKL5_uc004cyn.... Hybrid_Cap... view
CEP110 p.L1943R 9 123929939 123929939 AU565_BREAST 37 Missense_Mutation SNP T G uc004bkx.1 CEP110_uc004blb... Hybrid_Cap... view
CLTCL1 p.V1201_splice 22 19189003 19189004 AU565_BREAST 37 Splice_Site_Ins Ins - C rs11386977 uc002zpb.2 CLTCL1_uc011agv... Hybrid_Cap...
COL18A1 p.P1404L 21 46925154 46925154 AU565_BREAST 37 Missense_Mutation SNP C T uc011afs.1 COL18A1_uc002zh... Hybrid_Cap... view
CSNK1A1L 13 37678341 37678341 AU565_BREAST 37 3'UTR SNP C T uc001uwm.1 Hybrid_Cap... view
CTBP2 p.T797N 10 126683048 126683048 AU565_BREAST 37 Missense_Mutation SNP G T uc001lie.3 CTBP2_uc009yak.... Hybrid_Cap... view
CXCL12 10 44873992 44873993 AU565_BREAST 37 Intron Ins - CT rs117617571 uc001jbh.2 CXCL12_uc001jbf... Hybrid_Cap...
DBF4 p.P555del 7 87537111 87537113 AU565_BREAST 37 In_Frame_Del Del CTC - uc003ujf.1 DBF4_uc003ujh.1... Hybrid_Cap...
DDR2 1 162750211 162750212 AU565_BREAST 37 3'UTR Del TT - uc001gcf.2 DDR2_uc001gcg.2... Hybrid_Cap...
DYRK4 p.R386L 12 4714110 4714110 AU565_BREAST 37 Missense_Mutation SNP G T uc009zeh.1 DYRK4_uc001qmx.... Hybrid_Cap... view
EDN1 6 12296150 12296151 AU565_BREAST 37 Intron Ins - T rs66570617 uc003nae.3 EDN1_uc003nad.2... Hybrid_Cap...
EIF4A2 3 186505515 186505515 AU565_BREAST 37 Intron SNP C T uc003fqu.2 EIF4A2_uc003fqs... Hybrid_Cap... view
EPHA5 4 66189753 66189754 AU565_BREAST 37 3'UTR Ins - T rs67487372 uc011cah.1 EPHA5_uc003hcx.... Hybrid_Cap...
ERBB3 p.E952Q 12 56493446 56493446 AU565_BREAST 37 Missense_Mutation SNP G C uc001sjh.2 ERBB3_uc009zoj.... Hybrid_Cap... view
ERCC3 2 128047671 128047675 AU565_BREAST 37 Intron Del TTCTC - uc002toh.1 ERCC3_uc002toe.... Hybrid_Cap...
ETV1 p.D38Y 7 14027732 14027732 AU565_BREAST 37 Missense_Mutation SNP C A uc011jxq.1 ETV1_uc011jxn.1... Hybrid_Cap... view
ETV1 7 14028708 14028708 AU565_BREAST 37 5'UTR Del A - rs77190713 uc011jxq.1 ETV1_uc011jxn.1... Hybrid_Cap...
FASN p.P1121S 17 80044992 80044992 AU565_BREAST 37 Missense_Mutation SNP G A uc002kdu.2 FASN_uc002kdw.1... Hybrid_Cap... view
FGFR1OP 6 167453519 167453520 AU565_BREAST 37 3'UTR Ins - T rs115519488 uc003qvj.2 CCR6_uc003qvl.2... Hybrid_Cap...
FLI1 11 128638217 128638217 AU565_BREAST 37 Intron Del G - uc010sbu.1 FLI1_uc010sbt.1... Hybrid_Cap...
FMN2 p.PPLPGAGIPPP939del 1 240370914 240370946 AU565_BREAST 37 In_Frame_Del Del GCCCC... - rs4997328;rs4997329 uc010pye.1 FMN2_uc010pyd.1... Hybrid_Cap...
FN1 2 216244182 216244185 AU565_BREAST 37 Intron Del GTAC - uc002vfa.2 FN1_uc002vfb.2_... Hybrid_Cap...
GAB1 p.D614N 4 144381587 144381587 AU565_BREAST 37 Missense_Mutation SNP G A uc003ijd.2 GAB1_uc003ije.2... Hybrid_Cap... view
GLI1 p.I110M 12 57858592 57858592 AU565_BREAST 37 Missense_Mutation SNP C G uc001snx.2 GLI1_uc009zpp.2... Hybrid_Cap... view
GPC3 X 132888208 132888208 AU565_BREAST 37 Intron Del A - uc010nrn.1 GPC3_uc004exd.1... Hybrid_Cap...
GPHN 14 67525709 67525709 AU565_BREAST 37 Intron SNP A C uc010tss.1 GPHN_uc001xiw.2... Hybrid_Cap... view
GRIA3 X 122318386 122318387 AU565_BREAST 37 Splice_Site_Ins Ins - G rs66632982 uc004etq.3 GRIA3_uc004etr.... Hybrid_Cap...
GRIN2A p.G1258G 16 9857627 9857627 AU565_BREAST 37 Silent SNP A T uc002czo.3 GRIN2A_uc010uym... Hybrid_Cap... view
GUCY2C 12 14827464 14827466 AU565_BREAST 37 Intron Del ATC - rs72525754;rs3083879 uc001rcd.2 GUCY2C_uc009zhz... Hybrid_Cap...
HEPH p.P398R X 65412092 65412092 AU565_BREAST 37 Missense_Mutation SNP C G uc011moz.1 HEPH_uc004dwn.2... Hybrid_Cap... view
HERC2 p.L3391Q 15 28414687 28414687 AU565_BREAST 37 Missense_Mutation SNP A T uc001zbj.2 Hybrid_Cap... view
HIF1A 14 62213929 62213930 AU565_BREAST 37 3'UTR Ins - T rs67890419 uc001xfs.2 HIF1A_uc001xfq.... Hybrid_Cap...
HNRNPH1 5 179050192 179050192 AU565_BREAST 37 Intron SNP A G uc003mkf.3 HNRNPH1_uc003mk... Hybrid_Cap... view
IKBKE p.R706W 1 206667323 206667323 AU565_BREAST 37 Missense_Mutation SNP C T uc001hdz.1 IKBKE_uc009xbv.... Hybrid_Cap... view
ILK 11 6630029 6630029 AU565_BREAST 37 Intron Del C - uc001mee.2 ILK_uc001mef.2_... Hybrid_Cap...
ITPR2 p.R470_splice 12 26834804 26834805 AU565_BREAST 37 Splice_Site_Ins Ins - ACTC rs66696203;rs59199365 uc001rhg.2 Hybrid_Cap...
KIT p.N130D 4 55564500 55564500 AU565_BREAST 37 Missense_Mutation SNP A G uc010igr.2 KIT_uc010igs.2_... Hybrid_Cap... view
LRP2 p.E1239K 2 170097828 170097828 AU565_BREAST 37 Missense_Mutation SNP C T uc002ues.2 LRP2_uc010zdf.1... Hybrid_Cap... view
MAML3 p.Q767_splice 4 140651585 140651587 AU565_BREAST 37 Splice_Site_Del Del CTG - uc003ihz.1 MGST2_uc010ioi.... Hybrid_Cap...
MAP3K14 p.R218_splice 17 43364293 43364294 AU565_BREAST 37 Splice_Site_Ins Ins - G rs66766023 uc002iiw.1 MAP3K14_uc010da... Hybrid_Cap...
MCM3AP 21 47666476 47666476 AU565_BREAST 37 Intron SNP C G uc002zir.1 MCM3APAS_uc002z... Hybrid_Cap... view
MLL3 p.Q2054E 7 151878785 151878785 AU565_BREAST 37 Missense_Mutation SNP G C uc003wla.2 MLL3_uc003wkz.2... Hybrid_Cap... view
MLLT10 p.Q997E 10 22024150 22024150 AU565_BREAST 37 Missense_Mutation SNP C G uc001iqs.2 MLLT10_uc001iqt... Hybrid_Cap... view
MSH5 p.S554T 6 31727677 31727677 AU565_BREAST 37 Missense_Mutation SNP G C uc003nwt.1 MSH5_uc003nwu.1... Hybrid_Cap... view
MST1R p.R983W 3 49933163 49933163 AU565_BREAST 37 Missense_Mutation SNP G A uc003cxy.3 MST1R_uc011bdc.... Hybrid_Cap... view
MTMR11 1 149900665 149900665 AU565_BREAST 37 3'UTR SNP G C uc001etl.3 SF3B4_uc001eti.... Hybrid_Cap... view
MTMR11 1 149900756 149900756 AU565_BREAST 37 3'UTR SNP G C uc001etl.3 SF3B4_uc001eti.... Hybrid_Cap... view
MTMR11 p.S651* 1 149901199 149901199 AU565_BREAST 37 Nonsense_Mutation SNP G C uc001etl.3 SF3B4_uc001etj.... Hybrid_Cap... view
MYO3A p.G44D 10 26241170 26241170 AU565_BREAST 37 Missense_Mutation SNP G A uc001isn.2 MYO3A_uc009xko.... Hybrid_Cap... view
NCAM1 11 112832307 112832308 AU565_BREAST 37 5'UTR Ins - A rs117108942 uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCAM1 11 112832340 112832340 AU565_BREAST 37 5'UTR Del C - uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NFIA 1 61921185 61921186 AU565_BREAST 37 3'UTR Ins - T rs57270124;rs76131997 uc010oos.1 NFIA_uc001czy.2... Hybrid_Cap...
NPR1 p.R1047W 1 153665843 153665843 AU565_BREAST 37 Missense_Mutation SNP C T uc001fcs.3 NPR1_uc010pdz.1... Hybrid_Cap... view
NR1H2 p.176_177insQ 19 50881822 50881823 AU565_BREAST 37 In_Frame_Ins Ins - CAG rs61751954;rs1052533 uc010enw.2 NR1H2_uc002prv.... Hybrid_Cap...
NUP214 9 134067556 134067557 AU565_BREAST 37 Intron Ins - TT rs66652901 uc004cag.2 NUP214_uc004cah... Hybrid_Cap...
OBSCN p.A5597G 1 228525074 228525074 AU565_BREAST 37 Missense_Mutation SNP C G uc009xez.1 OBSCN_uc001hsn.... Hybrid_Cap... view
PAX3 2 223158653 223158653 AU565_BREAST 37 Intron Del T - rs112753212 uc002vmt.1 PAX3_uc002vmy.1... Hybrid_Cap...
PDE4DIP p.Q1665fs 1 144873963 144873963 AU565_BREAST 37 Frame_Shift_Del Del T - uc001elw.3 NBPF10_uc009wir... Hybrid_Cap...
PDE4DIP p.V486fs 1 144917828 144917828 AU565_BREAST 37 Frame_Shift_Del Del A - uc001elw.3 NBPF10_uc009wir... Hybrid_Cap...
PGR 11 100933598 100933599 AU565_BREAST 37 Intron Ins - AATGA rs35148438 uc001pgh.2 PGR_uc001pgg.2_... Hybrid_Cap...
PKHD1 p.W365* 6 51927341 51927341 AU565_BREAST 37 Nonsense_Mutation SNP C T uc003pah.1 PKHD1_uc003pai.... Hybrid_Cap... view
PLEKHA5 p.R600T 12 19440426 19440426 AU565_BREAST 37 Missense_Mutation SNP G C uc010sie.1 PLEKHA5_uc001re... Hybrid_Cap... view
POU5F1 6 31132300 31132300 AU565_BREAST 37 3'UTR SNP A G uc003nsv.2 POU5F1_uc003nsu... Hybrid_Cap... view
PRCC p.S222C 1 156756548 156756548 AU565_BREAST 37 Missense_Mutation SNP C G uc001fqa.2 PRCC_uc001fqb.2... Hybrid_Cap... view
PRCC 1 156770373 156770373 AU565_BREAST 37 3'UTR SNP C T uc001fqa.2 PRCC_uc001fqb.2... Hybrid_Cap... view
PRKCQ p.E385K 10 6525527 6525527 AU565_BREAST 37 Missense_Mutation SNP C T uc001iji.1 PRKCQ_uc009xim.... Hybrid_Cap... view
PRKCQ p.P374L 10 6525559 6525559 AU565_BREAST 37 Missense_Mutation SNP G A uc001iji.1 PRKCQ_uc009xim.... Hybrid_Cap... view
PRKDC p.L1244fs 8 48805816 48805817 AU565_BREAST 37 Frame_Shift_Ins Ins - G rs67588121 uc003xqi.2 PRKDC_uc003xqj.... Hybrid_Cap...
PSEN2 p.G70R 1 227071472 227071472 AU565_BREAST 37 Missense_Mutation SNP G A uc009xeo.1 PSEN2_uc009xep.... Hybrid_Cap... view
RAPGEF2 4 160189200 160189201 AU565_BREAST 37 5'UTR Ins - T rs72011511 uc003iqg.3 Hybrid_Cap...
RIPK3 p.V27V 14 24808743 24808743 AU565_BREAST 37 Silent SNP G A uc001wpb.2 RIPK3_uc001wpa.... Hybrid_Cap... view
SEPT9 p.E567K 17 75494678 75494678 AU565_BREAST 37 Missense_Mutation SNP G A uc002jts.3 SEPT9_uc010wtk.... Hybrid_Cap... view
SIRT1 p.T177I 10 69647274 69647274 AU565_BREAST 37 Missense_Mutation SNP C T uc001jnd.2 SIRT1_uc010qis.... Hybrid_Cap... view
SLC6A8 X 152957656 152957657 AU565_BREAST 37 Intron Ins - A uc004fib.3 SLC6A8_uc004fic... Hybrid_Cap...
SMAD4 p.D355N 18 48591900 48591900 AU565_BREAST 37 Missense_Mutation SNP G A uc010xdp.1 SMAD4_uc002lfb.... Hybrid_Cap... view
SOS1 p.E906Q 2 39233628 39233628 AU565_BREAST 37 Missense_Mutation SNP C G uc002rrk.3 SOS1_uc002rrj.3... Hybrid_Cap... view
SPRY2 p.D232H 13 80911147 80911147 AU565_BREAST 37 Missense_Mutation SNP C G uc001vli.2 SPRY2_uc001vlj.... Hybrid_Cap... view
SPTAN1 9 131390115 131390115 AU565_BREAST 37 Intron SNP C G uc004bvm.3 SPTAN1_uc004bvl... Hybrid_Cap... view
SRF 6 43147026 43147026 AU565_BREAST 37 3'UTR SNP G A uc003oui.2 SRF_uc011dvf.1_... Hybrid_Cap... view
SRPK1 p.E57Q 6 35858696 35858696 AU565_BREAST 37 Missense_Mutation SNP C G uc003olj.2 SRPK1_uc011dtg.... Hybrid_Cap... view
SS18 p.F5F 18 23670519 23670519 AU565_BREAST 37 Silent SNP G A uc002kvm.2 SS18_uc002kvn.2... Hybrid_Cap... view
STAT5B p.E509K 17 40364157 40364157 AU565_BREAST 37 Missense_Mutation SNP C T uc002hzh.2 Hybrid_Cap... view
STK17B p.P344R 2 197002259 197002259 AU565_BREAST 37 Missense_Mutation SNP G C uc002utk.2 STK17B_uc010fsh... Hybrid_Cap... view
STK31 7 23872024 23872025 AU565_BREAST 37 3'UTR Ins - TTTG rs66787534 uc003sws.3 STK31_uc003swt.... Hybrid_Cap...
TMEM123 11 102269398 102269398 AU565_BREAST 37 3'UTR Del G - uc001pha.2 TMEM123_uc009yx... Hybrid_Cap...
TMPO 12 98928125 98928125 AU565_BREAST 37 3'UTR SNP A G uc001tfh.1 TMPO_uc001tfi.1... Hybrid_Cap... view
TNIK p.S77F 3 170928981 170928981 AU565_BREAST 37 Missense_Mutation SNP G A uc003fhh.2 TNIK_uc003fhi.2... Hybrid_Cap... view
TNRC6B p.L1254V 22 40696510 40696510 AU565_BREAST 37 Missense_Mutation SNP C G uc011aor.1 TNRC6B_uc003aym... Hybrid_Cap... view
TP53 p.R175H 17 7578406 7578406 AU565_BREAST 37 Missense_Mutation SNP C T rs28934578 uc002gim.2 TP53_uc002gig.1... Hybrid_Cap... view
TP63 3 189507518 189507519 AU565_BREAST 37 Intron Ins - AGAG rs62702062;rs79714037 uc003fry.2 TP63_uc003frx.2... Hybrid_Cap...
TRAF2 p.K481N 9 139820290 139820290 AU565_BREAST 37 Missense_Mutation SNP G C uc010nbu.2 TRAF2_uc004cjv.... Hybrid_Cap... view
TRIM67 p.S674R 1 231344895 231344895 AU565_BREAST 37 Missense_Mutation SNP C A uc009xfn.1 Hybrid_Cap... view
TTN p.E8638K 2 179569654 179569654 AU565_BREAST 37 Missense_Mutation SNP C T uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
VEGFA 6 43746423 43746423 AU565_BREAST 37 Intron SNP A G rs3025048 uc003owh.2 VEGFA_uc003owc.... Hybrid_Cap... view
VEGFC p.S419_splice 4 177605082 177605084 AU565_BREAST 37 Splice_Site_Del Del TCA - uc003ius.1 Hybrid_Cap...
VPS13B p.D2797H 8 100829984 100829984 AU565_BREAST 37 Missense_Mutation SNP G C uc003yiv.2 VPS13B_uc003yiw... Hybrid_Cap... view