Annotation Summary for Cell Line: HuH-7  

Cell line primary name: HuH-7
Cell line aliases:
Gender: M
Site Primary: liver
Histology: carcinoma
Hist Subtype1: hepatocellular_carcinoma
Notes:
Source: HSRRB
Expression arrays: BUNDS_p_NCLE_RNA5_HG-U133_Plus_2_C11_419730
SNP arrays: PODIA_p_NCLE_DNAAffy7_GenomeWideSNP_6_H12_437494
Oncomap: yes
Hybrid Capture Sequencing: yes


Mutations in HuH-7

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 HUH7_LIVER 37 In_Frame_Del Del TGT - rs55712143 uc002sfp.2 AAK1_uc010fdk.2... Hybrid_Cap...
ACOXL 2 111851145 111851145 HUH7_LIVER 37 Intron SNP A G uc010yxk.1 ACOXL_uc010fkc.... Hybrid_Cap... view
ACVR1C 2 158390343 158390344 HUH7_LIVER 37 3'UTR Ins - A rs75065337 uc002tzk.3 ACVR1C_uc002tzl... Hybrid_Cap...
ADAM28 8 24211994 24211997 HUH7_LIVER 37 3'UTR Del CTAT - rs10610134 uc003xdy.2 ADAM28_uc011laa... Hybrid_Cap...
ADAMTSL3 p.R1005C 15 84651393 84651393 HUH7_LIVER 37 Missense_Mutation SNP C T uc002bjz.3 ADAMTSL3_uc010b... Hybrid_Cap... view
ADCK4 p.S40fs 19 41220286 41220286 HUH7_LIVER 37 Frame_Shift_Del Del G - uc002oor.2 ADCK4_uc002ooq.... Hybrid_Cap...
AKAP12 p.1531_1532insE 6 151674116 151674117 HUH7_LIVER 37 In_Frame_Ins Ins - GAG rs34737819 uc011eep.1 AKAP12_uc003qoe... Hybrid_Cap...
ALPK1 4 113347609 113347610 HUH7_LIVER 37 Intron Ins - T rs68137453 uc003iap.3 ALPK1_uc003ian.... Hybrid_Cap...
ALPK1 p.S942del 4 113353523 113353525 HUH7_LIVER 37 In_Frame_Del Del TTC - uc003iap.3 ALPK1_uc003ian.... Hybrid_Cap...
ARID1A 1 27107263 27107264 HUH7_LIVER 37 3'UTR Ins - C rs3841356 uc001bmv.1 ARID1A_uc001bmu... Hybrid_Cap...
AURKC 19 57742494 57742507 HUH7_LIVER 37 5'UTR Del GGACG... - rs67926438;rs112039303;rs59094959 uc002qoe.2 AURKC_uc002qoc.... Hybrid_Cap...
CACNB2 10 18828721 18828722 HUH7_LIVER 37 3'UTR Ins - AA rs3841459 uc001ipr.2 CACNB2_uc009xjz... Hybrid_Cap...
CAMK2A 5 149602240 149602240 HUH7_LIVER 37 3'UTR SNP G A uc003lrt.2 CAMK2A_uc003lrs... Hybrid_Cap... view
CDK13 p.Q544H 7 40027618 40027618 HUH7_LIVER 37 Missense_Mutation SNP G T uc003thh.3 CDK13_uc003thi.... Hybrid_Cap... view
CHL1 p.V774M 3 431007 431007 HUH7_LIVER 37 Missense_Mutation SNP G A uc003bot.2 CHL1_uc003bou.2... Hybrid_Cap... view
CLTCL1 p.V1201_splice 22 19189003 19189004 HUH7_LIVER 37 Splice_Site_Ins Ins - C rs11386977 uc002zpb.2 CLTCL1_uc011agv... Hybrid_Cap...
CREBBP 16 3777693 3777694 HUH7_LIVER 37 3'UTR Ins - G rs75832607 uc002cvv.2 CREBBP_uc002cvw... Hybrid_Cap...
CUBN p.R3148W 10 16911647 16911647 HUH7_LIVER 37 Missense_Mutation SNP G A uc001ioo.2 CUBN_uc009xjq.1... Hybrid_Cap... view
CXCL12 10 44873992 44873993 HUH7_LIVER 37 Intron Ins - CT rs117617571 uc001jbh.2 CXCL12_uc001jbf... Hybrid_Cap...
DGKB 7 14216330 14216332 HUH7_LIVER 37 Intron Del AAC - uc003ssz.2 DGKB_uc011jxt.1... Hybrid_Cap...
DNAH8 p.E3258fs 6 38885815 38885815 HUH7_LIVER 37 Frame_Shift_Del Del G - uc003ooe.1 Hybrid_Cap...
DNAH8 6 38952246 38952247 HUH7_LIVER 37 Intron Ins - CACA rs34819199 uc003ooe.1 DNAH8_uc003oog.... Hybrid_Cap...
EDN1 6 12290729 12290729 HUH7_LIVER 37 5'UTR Del A - uc003nae.3 EDN1_uc010jpb.2... Hybrid_Cap...
EGF p.E1134fs 4 110932389 110932390 HUH7_LIVER 37 Frame_Shift_Ins Ins - C rs11569144 uc003hzy.3 EGF_uc011cfu.1_... Hybrid_Cap...
EPHA6 3 97367230 97367231 HUH7_LIVER 37 Intron Ins - A rs115253553 uc010how.1 EPHA6_uc003drs.... Hybrid_Cap...
EPHB6 p.D951A 7 142568333 142568333 HUH7_LIVER 37 Missense_Mutation SNP A C uc011kst.1 EPHB6_uc011ksu.... Hybrid_Cap... view
ETV1 7 14028708 14028708 HUH7_LIVER 37 5'UTR Del A - rs77190713 uc011jxq.1 ETV1_uc011jxn.1... Hybrid_Cap...
FAM123B p.R350fs X 63412116 63412117 HUH7_LIVER 37 Frame_Shift_Del Del CT - uc004dvo.2 Hybrid_Cap...
FAM123B p.A229V X 63412481 63412481 HUH7_LIVER 37 Missense_Mutation SNP G A uc004dvo.2 Hybrid_Cap... view
FANCC p.R185* 9 97912338 97912338 HUH7_LIVER 37 Nonsense_Mutation SNP G A uc004avh.2 FANCC_uc004avi.... Hybrid_Cap... view
FGFR3 4 1809128 1809129 HUH7_LIVER 37 3'UTR Del GT - uc003gdu.2 FGFR3_uc003gdr.... Hybrid_Cap...
FLI1 11 128638217 128638217 HUH7_LIVER 37 Intron Del G - uc010sbu.1 FLI1_uc010sbt.1... Hybrid_Cap...
FMN2 p.E639A 1 240341354 240341354 HUH7_LIVER 37 Missense_Mutation SNP A C uc010pye.1 FMN2_uc010pyd.1... Hybrid_Cap... view
FN1 2 216244182 216244185 HUH7_LIVER 37 Intron Del GTAC - uc002vfa.2 FN1_uc002vfb.2_... Hybrid_Cap...
FOXP1 3 71008341 71008342 HUH7_LIVER 37 3'UTR Ins - T rs11433724;rs114233617 uc003dol.2 FOXP1_uc003dom.... Hybrid_Cap...
GLG1 p.F11L 16 74640960 74640960 HUH7_LIVER 37 Missense_Mutation SNP G T uc002fcx.2 GLG1_uc002fcy.3... Hybrid_Cap... view
GPR112 p.D2657del X 135474445 135474447 HUH7_LIVER 37 In_Frame_Del Del GAT - rs3030295 uc004ezu.1 GPR112_uc010nsb... Hybrid_Cap...
GRIA3 X 122318386 122318387 HUH7_LIVER 37 Splice_Site_Ins Ins - G rs66632982 uc004etq.3 GRIA3_uc004etr.... Hybrid_Cap...
GRK1 p.A294T 13 114325866 114325866 HUH7_LIVER 37 Missense_Mutation SNP G A uc010tkf.1 Hybrid_Cap... view
GRK7 p.G525A 3 141535804 141535804 HUH7_LIVER 37 Missense_Mutation SNP G C uc011bnd.1 Hybrid_Cap... view
GSK3B 3 119812444 119812444 HUH7_LIVER 37 5'UTR SNP T A uc003edn.2 GSK3B_uc003edo.... Hybrid_Cap... view
GUCY2C 12 14827464 14827466 HUH7_LIVER 37 Intron Del ATC - rs72525754;rs3083879 uc001rcd.2 GUCY2C_uc009zhz... Hybrid_Cap...
HIPK4 p.R50G 19 40895662 40895662 HUH7_LIVER 37 Missense_Mutation SNP G C uc002onp.2 Hybrid_Cap... view
IL17RD p.L232H 3 57139937 57139937 HUH7_LIVER 37 Missense_Mutation SNP A T uc003dil.2 IL17RD_uc003dik... Hybrid_Cap... view
ILK 11 6630029 6630029 HUH7_LIVER 37 Intron Del C - uc001mee.2 ILK_uc001mef.2_... Hybrid_Cap...
INSR p.T858A 19 7141798 7141798 HUH7_LIVER 37 Missense_Mutation SNP T C uc002mgd.1 INSR_uc002mge.1... Hybrid_Cap... view
KIAA0802 p.A391V 18 8784282 8784282 HUH7_LIVER 37 Missense_Mutation SNP C T uc002knr.2 KIAA0802_uc002k... Hybrid_Cap... view
KIAA1804 p.E54D 1 233463936 233463936 HUH7_LIVER 37 Missense_Mutation SNP G C uc001hvt.3 KIAA1804_uc001h... Hybrid_Cap... view
LAMA1 p.S155S 18 7050816 7050816 HUH7_LIVER 37 Silent SNP G A uc002knm.2 LAMA1_uc010wzj.... Hybrid_Cap... view
LRRK1 p.S784Y 15 101566288 101566288 HUH7_LIVER 37 Missense_Mutation SNP C A uc002bwr.2 LRRK1_uc010usb.... Hybrid_Cap... view
MAML2 p.604_607QQQQ>Q 11 95825375 95825383 HUH7_LIVER 37 In_Frame_Del Del TGCTG... - rs113349418 uc001pfw.1 Hybrid_Cap...
MAML3 p.Q767_splice 4 140651585 140651587 HUH7_LIVER 37 Splice_Site_Del Del CTG - uc003ihz.1 MGST2_uc010ioi.... Hybrid_Cap...
MAP2K1 15 66679649 66679650 HUH7_LIVER 37 5'UTR Ins - C rs67229745 uc010bhq.2 Hybrid_Cap...
MAP3K1 p.T949del 5 56177849 56177851 HUH7_LIVER 37 In_Frame_Del Del CAA - uc003jqw.3 Hybrid_Cap...
MAP3K14 p.R218_splice 17 43364293 43364294 HUH7_LIVER 37 Splice_Site_Ins Ins - G rs66766023 uc002iiw.1 MAP3K14_uc010da... Hybrid_Cap...
MAP4K5 p.E773Q 14 50895389 50895389 HUH7_LIVER 37 Missense_Mutation SNP C G uc001wya.2 MAP4K5_uc001wyb... Hybrid_Cap... view
MAPK11 22 50705095 50705095 HUH7_LIVER 37 Intron SNP A C uc003bkr.2 MAPK11_uc010hax... Hybrid_Cap... view
MAX p.F134F 14 65543275 65543275 HUH7_LIVER 37 Silent SNP G A uc001xif.1 MAX_uc001xic.1_... Hybrid_Cap... view
MCL1 1 150549737 150549744 HUH7_LIVER 37 3'UTR Del GCTAG... - rs116997851 uc001euz.2 MCL1_uc010pch.1... Hybrid_Cap...
MCM4 p.K269N 8 48877247 48877247 HUH7_LIVER 37 Missense_Mutation SNP G C uc003xqk.1 MCM4_uc003xql.1... Hybrid_Cap... view
MEF2A p.QQP429del 15 100252736 100252744 HUH7_LIVER 37 In_Frame_Del Del GCAGC... - uc010urw.1 MEF2A_uc010urv.... Hybrid_Cap...
MLL3 p.L3234F 7 151864281 151864281 HUH7_LIVER 37 Missense_Mutation SNP G A uc003wla.2 MLL3_uc003wkz.2... Hybrid_Cap... view
MYH1 p.N592K 17 10411801 10411801 HUH7_LIVER 37 Missense_Mutation SNP G C uc002gmo.2 Hybrid_Cap... view
MYH10 p.T1407I 17 8396332 8396332 HUH7_LIVER 37 Missense_Mutation SNP G A uc002glm.2 MYH10_uc002gll.... Hybrid_Cap... view
MYH9 p.E881V 22 36697093 36697093 HUH7_LIVER 37 Missense_Mutation SNP T A uc003apg.2 MYH9_uc003aph.1... Hybrid_Cap... view
MYLK 3 123332876 123332876 HUH7_LIVER 37 3'UTR Del T - rs115544676 uc003ego.2 MYLK_uc003egl.2... Hybrid_Cap...
MYLK p.E1066del 3 123419117 123419119 HUH7_LIVER 37 In_Frame_Del Del TTC - rs72491150 uc003ego.2 MYLK_uc011bjw.1... Hybrid_Cap...
NACA p.P1082H 12 57112069 57112069 HUH7_LIVER 37 Missense_Mutation SNP G T uc009zoy.1 NACA_uc001slz.2... Hybrid_Cap... view
NCAM1 11 112832307 112832308 HUH7_LIVER 37 5'UTR Ins - A rs117108942 uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCAM1 11 112832340 112832340 HUH7_LIVER 37 5'UTR Del C - uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NOTCH1 p.Q184R 9 139417493 139417493 HUH7_LIVER 37 Missense_Mutation SNP T C uc004chz.2 Hybrid_Cap... view
NOTCH4 p.16_16L>LL 6 32191658 32191659 HUH7_LIVER 37 In_Frame_Ins Ins - AGC rs67287835 uc003obb.2 NOTCH4_uc011dpu... Hybrid_Cap...
NPR1 1 153665919 153665920 HUH7_LIVER 37 3'UTR Ins - C rs66682713 uc001fcs.3 NPR1_uc010pdz.1... Hybrid_Cap...
NPRL2 3 50384978 50384978 HUH7_LIVER 37 3'UTR Del C - rs75013672 uc003daj.1 ZMYND10_uc003da... Hybrid_Cap...
NR1H2 p.176_177insQ 19 50881822 50881823 HUH7_LIVER 37 In_Frame_Ins Ins - CAG rs61751954;rs1052533 uc010enw.2 NR1H2_uc002prv.... Hybrid_Cap...
NR3C1 5 142780419 142780419 HUH7_LIVER 37 Splice_Site_SNP SNP T A uc003lmy.2 NR3C1_uc003lmz.... Hybrid_Cap... view
OBSCN p.R3893W 1 228494090 228494090 HUH7_LIVER 37 Missense_Mutation SNP C T uc009xez.1 OBSCN_uc001hsn.... Hybrid_Cap... view
OLFM4 13 53624932 53624932 HUH7_LIVER 37 3'UTR SNP G C uc001vhl.2 OLFM4_uc001vhk.... Hybrid_Cap... view
PAX3 2 223066017 223066018 HUH7_LIVER 37 Intron Ins - C rs115619343 uc002vmt.1 PAX3_uc002vmy.1... Hybrid_Cap...
PAX3 2 223158653 223158653 HUH7_LIVER 37 Intron Del T - rs112753212 uc002vmt.1 PAX3_uc002vmy.1... Hybrid_Cap...
PAX5 9 36840427 36840427 HUH7_LIVER 37 3'UTR Del G - uc003zzo.1 PAX5_uc011lpt.1... Hybrid_Cap...
PDGFRA 4 55131002 55131002 HUH7_LIVER 37 Intron Del A - uc003han.3 PDGFRA_uc003haa... Hybrid_Cap...
PDZRN4 p.R387G 12 41966337 41966337 HUH7_LIVER 37 Missense_Mutation SNP A G uc010skn.1 PDZRN4_uc001rmq... Hybrid_Cap... view
PGR p.M924L 11 100909879 100909879 HUH7_LIVER 37 Missense_Mutation SNP T A uc001pgh.2 PGR_uc001pgg.2_... Hybrid_Cap... view
PIK3C2G p.I1394L 12 18762561 18762561 HUH7_LIVER 37 Missense_Mutation SNP A C uc010sib.1 PIK3C2G_uc001rd... Hybrid_Cap... view
PPM1E 17 57060351 57060352 HUH7_LIVER 37 3'UTR Ins - AA uc002iwx.2 PPM1E_uc010ddd.... Hybrid_Cap...
PRKCI 3 170009637 170009637 HUH7_LIVER 37 Intron SNP A G uc003fgs.2 PRKCI_uc003fgt.... Hybrid_Cap... view
PRKDC p.L1244fs 8 48805816 48805817 HUH7_LIVER 37 Frame_Shift_Ins Ins - G rs67588121 uc003xqi.2 PRKDC_uc003xqj.... Hybrid_Cap...
PTPRC p.R772W 1 198704298 198704298 HUH7_LIVER 37 Missense_Mutation SNP C T uc001gur.1 PTPRC_uc001gus.... Hybrid_Cap... view
PTPRC p.P818T 1 198711052 198711052 HUH7_LIVER 37 Missense_Mutation SNP C A uc001gur.1 PTPRC_uc001gus.... Hybrid_Cap... view
RAPGEF2 4 160189224 160189224 HUH7_LIVER 37 5'UTR SNP A T uc003iqg.3 Hybrid_Cap... view
RBPJ p.R238* 4 26426291 26426291 HUH7_LIVER 37 Nonsense_Mutation SNP C T rs5007634 uc003grx.1 RBPJ_uc003gry.1... Hybrid_Cap... view
RECQL4 p.R766fs 8 145738768 145738768 HUH7_LIVER 37 Frame_Shift_Del Del G - uc003zdj.2 Hybrid_Cap...
ROBO2 3 77666937 77666937 HUH7_LIVER 37 Intron Del A - rs78745603 uc003dpz.2 ROBO2_uc003dpy.... Hybrid_Cap...
ROBO2 3 77695397 77695397 HUH7_LIVER 37 3'UTR SNP C T uc003dpz.2 ROBO2_uc003dpy.... Hybrid_Cap... view
ROS1 p.S1109A 6 117683822 117683822 HUH7_LIVER 37 Missense_Mutation SNP A C uc003pxp.1 ROS1_uc011ebi.1... Hybrid_Cap... view
RPS6KL1 14 75373626 75373627 HUH7_LIVER 37 3'UTR Ins - TGAT uc001xqx.1 RPS6KL1_uc001xq... Hybrid_Cap...
SMO 7 128852298 128852298 HUH7_LIVER 37 3'UTR SNP C G uc003vor.2 SMO_uc003vos.2_... Hybrid_Cap... view
STARD3 p.I329N 17 37817094 37817094 HUH7_LIVER 37 Missense_Mutation SNP T A uc002hsd.2 STARD3_uc010weh... Hybrid_Cap... view
STK25 2 242435659 242435662 HUH7_LIVER 37 Intron Del AAGG - rs3215138;rs75497042 uc002wbm.2 STK25_uc002wbk.... Hybrid_Cap...
STK31 7 23872024 23872025 HUH7_LIVER 37 3'UTR Ins - TTTG rs66787534 uc003sws.3 STK31_uc003swt.... Hybrid_Cap...
STRADA 17 61781331 61781332 HUH7_LIVER 37 Intron Ins - AGAACC rs66701913 uc002jbm.2 STRADA_uc002jbn... Hybrid_Cap...
SYK p.K133E 9 93606577 93606577 HUH7_LIVER 37 Missense_Mutation SNP A G uc004aqz.2 SYK_uc004aqy.2_... Hybrid_Cap... view
TACC3 4 1739519 1739527 HUH7_LIVER 37 Intron Del GCCAT... - rs114226356 uc003gdo.2 TACC3_uc010ibz.... Hybrid_Cap...
TAF1 p.G184V X 70596818 70596818 HUH7_LIVER 37 Missense_Mutation SNP G T uc004dzt.3 BCYRN1_uc011mpt... Hybrid_Cap... view
TEC 4 48139307 48139310 HUH7_LIVER 37 3'UTR Del TTAT - rs79098351 uc003gxz.2 Hybrid_Cap...
TGFB2 1 218519928 218519929 HUH7_LIVER 37 5'UTR Ins - AAAC uc001hln.2 TGFB2_uc001hll.... Hybrid_Cap...
TGS1 p.R355S 8 56699522 56699522 HUH7_LIVER 37 Missense_Mutation SNP A C uc003xsj.3 TGS1_uc010lyh.2... Hybrid_Cap... view
TP53 p.Y220C 17 7578190 7578190 HUH7_LIVER 37 Missense_Mutation SNP T C uc002gim.2 TP53_uc002gig.1... Hybrid_Cap... view
TPR p.E1247D 1 186312467 186312467 HUH7_LIVER 37 Missense_Mutation SNP C A uc001grv.2 Hybrid_Cap... view
TRPS1 8 116635872 116635873 HUH7_LIVER 37 5'UTR Ins - A rs76893349 uc003yny.2 TRPS1_uc011lhy.... Hybrid_Cap...
TTN 2 179391639 179391640 HUH7_LIVER 37 3'UTR Ins - T rs36037175 uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap...
UBR5 p.R1907H 8 103293724 103293724 HUH7_LIVER 37 Missense_Mutation SNP C T uc003ykr.1 UBR5_uc003yks.1... Hybrid_Cap... view
VCPIP1 p.R1106L 8 67547088 67547088 HUH7_LIVER 37 Missense_Mutation SNP C A uc003xwn.2 Hybrid_Cap... view
VEGFC p.S419_splice 4 177605082 177605084 HUH7_LIVER 37 Splice_Site_Del Del TCA - uc003ius.1 Hybrid_Cap...
ZNF423 p.G475R 16 49671640 49671640 HUH7_LIVER 37 Missense_Mutation SNP C G uc002efs.2 ZNF423_uc010vgn... Hybrid_Cap... view