mutLBSgeneDB

mutLBSgeneDB
mutated Ligand Binding Site gene DataBase

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Gene Summary

Ligand Binding Site Mutation Information

Protein Structure Related Information

Gene Expression and Gene-Gene Network

Phenotype Information

Pharmacological Information

Conservation Information for LBS

Gene summary for AOC3
Gene summary
Basic gene Info.Gene symbolAOC3
Gene nameamine oxidase, copper containing 3
SynonymsHPAO|SSAO|VAP-1|VAP1
CytomapUCSC genome browser: 17q21
Type of geneprotein-coding
RefGenesNM_001277731.1,
NM_001277732.1,NM_003734.3,NR_102422.1,
Descriptionamine oxidase, copper containing 3 (vascular adhesion protein 1)copper amine oxidasemembrane primary amine oxidaseplacenta copper monamine oxidasesemicarbazide-sensitive amine oxidase
Modification date20141207
dbXrefs MIM : 603735
HGNC : HGNC
Ensembl : ENSG00000131471
HPRD : 04770
Vega : OTTHUMG00000180656
ProteinUniProt: Q16853
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_AOC3
BioGPS: 8639
PathwayNCI Pathway Interaction Database: AOC3
KEGG: AOC3
REACTOME: AOC3
Pathway Commons: AOC3
ContextiHOP: AOC3
ligand binding site mutation search in PubMed: AOC3
UCL Cancer Institute: AOC3
Assigned class in mutLBSgeneDBB: This gene belongs to targetable_mutLBSgenes.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez
GO IDGO TermPubMed ID
GO:0006812cation transport19764817
GO:0007155cell adhesion9653080
GO:0009308amine metabolic process9653080
GO:0046677response to antibiotic19764817
GO:0098655cation transmembrane transport19764817


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Ligand binding site mutations for AOC3
Lollipop-style diagram of mutations at LBS in amino-acid sequence.
We represented ligand binding site mutations only. (You can see big image via clicking.)
 
: non-synonymous mutation on LBS, Circle size denotes number of samples.

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
K638R637QCOAD1
Y394G392CCOAD1
D446D446YCOAD1
L365S364RLUAD1
I487I485MLUAD1
S619S619RLUSC1
D529D529VLUSC1
F389M391ILUSC1
S464S464FSKCM1
E572E573KSKCM1
P405D403GSTAD1
R383T381MUCEC1
cf) Cancer type abbreviation. BLCA: Bladder urothelial carcinoma, BRCA: Breast invasive carcinoma, CESC: Cervical squamous cell carcinoma and endocervical adenocarcinoma, COAD: Colon adenocarcinoma, GBM: Glioblastoma multiforme, LGG: Brain lower grade glioma, HNSC: Head and neck squamous cell carcinoma, KICH: Kidney chromophobe, KIRC: Kidney renal clear cell carcinoma, KIRP: Kidney renal papillary cell carcinoma, LAML: Acute myeloid leukemia, LUAD: Lung adenocarcinoma, LUSC: Lung squamous cell carcinoma, OV: Ovarian serous cystadenocarcinoma, PAAD: Pancreatic adenocarcinoma, PRAD: Prostate adenocarcinoma, SKCM: Skin cutaneous melanoma, STAD: Stomach adenocarcinoma, THCA: Thyroid carcinoma, UCEC: Uterine corpus endometrial carcinoma.


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Protein structure related information for AOC3
Relative protein structure stability change (ΔΔE) using Mupro 1.1
Mupro score denotes assessment of the effect of mutations on thermodynamic stability.
  (ΔΔE<0: mutation decreases stability, ΔΔE>0: mutation increases stability)
: nsSNV at non-LBS: nsSNV at LBS

nsSNVs sorted by the relative stability change of protein structure by each mutation
Blue: mutations of positive stability change. and red : the most recurrent mutation for this gene.
LBSAAchange of nsSNVRelative stability change
R383T381M0.2083448
S619S619R0.015262062
K638R637Q-1.4665042
E572E573K-0.87264325
S464S464F-0.65124404
I487I485M-0.5067558
F389M391I-0.48126912
P405D403G-0.38261319
L365S364R-0.37541065
D446D446Y-0.34756197
D529D529V-0.34543165
Y394G392C-0.23935579
(MuPro1.1: Jianlin Cheng et al., Prediction of Protein Stability Changes for Single-Site Mutations Using Support Vector Machines, PROTEINS: Structure, Function, and Bioinformatics. 2006, 62:1125-1132)

Structure image for AOC3 from PDB

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Differential gene expression and gene-gene network for AOC3
Differential gene expression between mutated and non-mutated LBS samples in all 16 major cancer types

Differential co-expressed gene network based on protein-protein interaction data (CePIN)
* Left PPI network was created from samples with mutations in the LBS of AOC3 and the right PPI network was created from samples without mutations in the LBS of AOC3. Only genes with p-value < 0.05 are shown.
Red circle: input gene. Orange circle: LBSgene. Blue circle: other gene.


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Phenotype information for AOC3
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0011853Diabetes Mellitus, Experimental3Biomarker
umls:C0011881Diabetic Nephropathies1Biomarker
umls:C0030524Paratuberculosis1Biomarker

Mutation level pathogenic information (ClinVar annotation)
Allele IDAA changeClinical significanceOriginPhenotype IDs

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Pharmacological information for AOC3
Gene expression profile of anticancer drug treated cell-lines (CCLE)
Heatmap showing the correlation between gene expression and drug response across all the cell-lines. We chose the top 20 among 138 drugs.We used Pearson's correlation coefficient.

Gene-centered drug-gene interaction network
Drug information targeting mutLBSgene (Approved drugs only)
Drug statusDrugBank IDNameTypeDrug structure
ApprovedDB00780PhenelzineSmall molecule
ApprovedDB01275HydralazineSmall molecule
ExperimentalDB043346-hydroxydopa quinoneSmall molecule

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of AOC3 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
CUCOPPER(2+)2c11AD446
CUCOPPER(2+)2c11BD446
CUCOPPER(2+)2c11CD446
CUCOPPER(2+)2c11DD446
CACALCIUM(2+)1pu4AD529
CACALCIUM(2+)1pu4BD529
CACALCIUM(2+)1us1AD529
CACALCIUM(2+)1us1BD529
CACALCIUM(2+)2c10AD529
CACALCIUM(2+)2c10BD529
CACALCIUM(2+)2c10CD529
CACALCIUM(2+)2c10DD529
CACALCIUM(2+)2c11AD529
CACALCIUM(2+)2c11BD529
CACALCIUM(2+)2c11CD529
CACALCIUM(2+)2c11DD529
CACALCIUM(2+)2y73AD529
CACALCIUM(2+)2y73BD529
CACALCIUM(2+)2y74AD529
CACALCIUM(2+)2y74BD529
CACALCIUM(2+)3alaAD529
CACALCIUM(2+)3alaBD529
CACALCIUM(2+)3alaCD529
CACALCIUM(2+)3alaDD529
CACALCIUM(2+)3alaED529
CACALCIUM(2+)3alaFD529
CACALCIUM(2+)3alaGD529
CACALCIUM(2+)4btwAD529
CACALCIUM(2+)4btwBD529
CACALCIUM(2+)4btxAD529
CACALCIUM(2+)4btxBD529
CACALCIUM(2+)4btyAD529
CACALCIUM(2+)4btyBD529
CACALCIUM(2+)2c10AE572
CACALCIUM(2+)2c10BE572
CACALCIUM(2+)2c10CE572
CACALCIUM(2+)2c10DE572
CACALCIUM(2+)2c11DE572
CACALCIUM(2+)2y73AE572
CACALCIUM(2+)2y74BE572
CACALCIUM(2+)1pu4AE572 K638
CACALCIUM(2+)1pu4BE572 K638
CACALCIUM(2+)1us1AE572 K638
CACALCIUM(2+)1us1BE572 K638
CACALCIUM(2+)2c11AE572 K638
CACALCIUM(2+)2c11BE572 K638
CACALCIUM(2+)2c11CE572 K638
CACALCIUM(2+)2y73BE572 K638
CACALCIUM(2+)2y74AE572 K638
CACALCIUM(2+)3alaAE572 K638
CACALCIUM(2+)3alaBE572 K638
CACALCIUM(2+)3alaCE572 K638
CACALCIUM(2+)3alaDE572 K638
CACALCIUM(2+)3alaEE572 K638
CACALCIUM(2+)3alaGE572 K638
CACALCIUM(2+)4btwAE572 K638
CACALCIUM(2+)4btwBE572 K638
CACALCIUM(2+)4btxAE572 K638
CACALCIUM(2+)4btxBE572 K638
CACALCIUM(2+)4btyAE572 K638
CACALCIUM(2+)4btyBE572 K638
JW75-(CYCLOHEXYLAMINO)-2-PHENYL-6-(1H-1,2,4- TRIAZOL-5-YL)-3(2H)-PYRIDAZINONE4btwAF389 Y394
JW75-(CYCLOHEXYLAMINO)-2-PHENYL-6-(1H-1,2,4- TRIAZOL-5-YL)-3(2H)-PYRIDAZINONE4btwBF389 Y394
WF85-ISOPROPYLAMINO-2-PHENYL-6-(1H-1,2,4- TRIAZOL-5-YL)-3(2H)-PYRIDAZINONE4btxAF389 Y394
WF85-ISOPROPYLAMINO-2-PHENYL-6-(1H-1,2,4- TRIAZOL-5-YL)-3(2H)-PYRIDAZINONE4btxBF389 Y394
JWF5-[4-(4-METHYLPIPERAZIN-1-YL)PHENYLAMINO]-2- (4-CHLOROPHENYL)-6-(1H-1,2,4-TRIAZOL-5-YL)- 3(2H)-PYRIDAZINONE4btyAF389 Y394
JWF5-[4-(4-METHYLPIPERAZIN-1-YL)PHENYLAMINO]-2- (4-CHLOROPHENYL)-6-(1H-1,2,4-TRIAZOL-5-YL)- 3(2H)-PYRIDAZINONE4btyBF389 Y394
IMDIMIDAZOLIUM CATION2y73BI487
CACALCIUM(2+)3alaFK638
IMDIMIDAZOLIUM CATION2y74BL365
IMDIMIDAZOLIUM CATION2y73AL365 I487
IMDIMIDAZOLIUM CATION2y74AL365 I487
FMTFORMIC ACID2y73AP405
FMTFORMIC ACID2y73AR383 S619
IMDIMIDAZOLIUM CATION2y73AS464
IMDIMIDAZOLIUM CATION2y73BS464
IMDIMIDAZOLIUM CATION2y74AS464
IMDIMIDAZOLIUM CATION2y74BS464
IMDIMIDAZOLIUM CATION2y73AY394
IMDIMIDAZOLIUM CATION2y73BY394
IMDIMIDAZOLIUM CATION2y74BY394


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Conservation information for LBS of AOC3
Multiple alignments for Q16853 in multiple species
LBSAA sequence# speciesSpecies
D180EYLDIDQMIFN2Homo sapiens, Bos taurus
D180EYQDIEEMIFH1Mus musculus
D180EYQDIQEMIFH1Rattus norvegicus
D386TTRYVDGGFGM1Homo sapiens
D386STCYVDGSFGI1Mus musculus
D386STCYMDGSFGI1Rattus norvegicus
D386LTRYMDGCFGM1Bos taurus
D446RRHHSDFYSHY2Mus musculus, Rattus norvegicus
D446RRHHSDLYSHY1Homo sapiens
D446RRHHSDFISQY1Bos taurus
D476YDYVWDTVFHP1Homo sapiens
D476YDYIWDMVFHP1Mus musculus
D476YDYVWDMVFHS1Rattus norvegicus
D476YDYVWDMVFHP1Bos taurus
D529AHFKVDLDVAG3Homo sapiens, Mus musculus, Rattus norvegicus
D529AHYKVDLDVGG1Bos taurus
D531FKVDLDVAGLK2Mus musculus, Rattus norvegicus
D531FKVDLDVAGLE1Homo sapiens
D531YKVDLDVGGLE1Bos taurus
D673TIAGKDLVAWV2Homo sapiens, Bos taurus
D673TIAGEDLVAWV2Mus musculus, Rattus norvegicus
E140KPNVSELVVGP2Mus musculus, Rattus norvegicus
E140QPNVSELVVGP1Homo sapiens
E140QPNVTELVVGP1Bos taurus
E536DVAGLKNWAWA2Mus musculus, Rattus norvegicus
E536DVAGLENWVWA1Homo sapiens
E536DVGGLENWVWA1Bos taurus
E572KLLETEEEAAF2Mus musculus, Rattus norvegicus
E572KLLEMEEQAAF1Homo sapiens
E572KQLETEEQAAF1Bos taurus
E641QRKEEEPSSSS3Homo sapiens, Mus musculus, Rattus norvegicus
E641QRKETEPSSSS1Bos taurus
E667DFINNETIAGK2Homo sapiens, Bos taurus
E667DFISNETIAGE2Mus musculus, Rattus norvegicus
F173RRPVLFQEYLD1Homo sapiens
F173RRPVLDREYQD1Mus musculus
F173RRPVLTREYQD1Rattus norvegicus
F173RRPVLLREYLD1Bos taurus
F227DRATWFGLYYN3Homo sapiens, Mus musculus, Bos taurus
F227DRATWFGIYYN1Rattus norvegicus
F389YVDGGFGMGKY1Homo sapiens
F389YVDGSFGIGKY1Mus musculus
F389YMDGSFGIGKY1Rattus norvegicus
F389YMDGCFGMGKF1Bos taurus
F526THSAHFKVDLD2Homo sapiens, Mus musculus
F526THNAHFKVDLD1Rattus norvegicus
F526THSAHYKVDLD1Bos taurus
F648SSSSVFNQNDP2Homo sapiens, Bos taurus
F648SSSSIFNQNDP1Mus musculus
F648SSSSIYNQNDP1Rattus norvegicus
F663VDFSDFINNET1Homo sapiens
F663VNFTDFISNET1Mus musculus
F663VDFTDFISNET1Rattus norvegicus
F663VDFADFINNET1Bos taurus
G30LVGRGGDGGEP1Homo sapiens
G30LAGRSGDGGGL1Mus musculus
G30LAGRSGDGGRL1Rattus norvegicus
G30IAGRGGDGGEA1Bos taurus
G671NETIAGKDLVA2Homo sapiens, Bos taurus
G671NETIAGEDLVA2Mus musculus, Rattus norvegicus
H160VTVERHGGPLP4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
H444PLRRHHSDFYS2Mus musculus, Rattus norvegicus
H444PLRRHHSDLYS1Homo sapiens
H444PLRRHHSDFIS1Bos taurus
H514NQVSEHTLGTV1Homo sapiens
H514NRVGAHTLGTV1Mus musculus
H514NRVAEHTLGTV1Rattus norvegicus
H514NQVRENTLGTV1Bos taurus
H520TLGTVHTHSAH3Homo sapiens, Mus musculus, Bos taurus
H520TLGTVHTHNAH1Rattus norvegicus
H522GTVHTHSAHFK2Homo sapiens, Mus musculus
H522GTVHTHNAHFK1Rattus norvegicus
H522GTVHTHSAHYK1Bos taurus
H684TAGFLHIPHAE4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
H762HGGFSHN--1Homo sapiens
H762HGGFAYRDN1Mus musculus
H762HGGFTYK--1Rattus norvegicus
H762HGGFFTN--1Bos taurus
I349FSGPRIFDIRF3Mus musculus, Rattus norvegicus, Bos taurus
I349FSGPRIFDVRF1Homo sapiens
I487NGAIEVKFHAT3Mus musculus, Rattus norvegicus, Bos taurus
I487SGAIEIRFYAT1Homo sapiens
K106LQLPPKAAALA2Homo sapiens, Bos taurus
K106LQLPAKAAALA2Mus musculus, Rattus norvegicus
K638AVTQRKEEEPS3Homo sapiens, Mus musculus, Rattus norvegicus
K638AVTQRKETEPS1Bos taurus
L177LFQEYLDIDQM1Homo sapiens
L177LDREYQDIEEM1Mus musculus
L177LTREYQDIQEM1Rattus norvegicus
L177LLREYLDIDQM1Bos taurus
L290LVNVVLIPDNG1Homo sapiens
L290LVNVVLVPNNG1Mus musculus
L290LVNVVLVPDNG1Rattus norvegicus
L290RVNVVVIPNNG1Bos taurus
L314GPAPPLQFYPQ1Homo sapiens
L314GPAPPLQFHPQ1Mus musculus
L314GRAPPLQFHPE1Rattus norvegicus
L314GPTPPLQFHPQ1Bos taurus
L365AYEISVQEAIA2Mus musculus, Rattus norvegicus
L365VYEISLQEALA1Homo sapiens
L365AYEISLQEAVA1Bos taurus
L447RHHSDFYSHYF2Mus musculus, Rattus norvegicus
L447RHHSDLYSHYF1Homo sapiens
L447RHHSDFISQYF1Bos taurus
L468RSVSTLLNYDY2Mus musculus, Bos taurus
L468RSMSTLLNYDY1Homo sapiens
L468RSVATLLNYDY1Rattus norvegicus
L469SMSTLLNYDYV1Homo sapiens
L469SVSTLLNYDYI1Mus musculus
L469SVATLLNYDYV1Rattus norvegicus
L469SVSTLLNYDYV1Bos taurus
L530HFKVDLDVAGL3Homo sapiens, Mus musculus, Rattus norvegicus
L530HYKVDLDVGGL1Bos taurus
L535LDVAGLKNWAW2Mus musculus, Rattus norvegicus
L535LDVAGLENWVW1Homo sapiens
L535LDVGGLENWVW1Bos taurus
L615FAGKPLPQESP2Mus musculus, Rattus norvegicus
L615FAGEPLPQNSS1Homo sapiens
L615FAGRPLPQNSS1Bos taurus
L674IAGKDLVAWVT2Homo sapiens, Bos taurus
L674IAGEDLVAWVT2Mus musculus, Rattus norvegicus
N470MSTLLNYDYVW1Homo sapiens
N470VSTLLNYDYIW1Mus musculus
N470VATLLNYDYVW1Rattus norvegicus
N470VSTLLNYDYVW1Bos taurus
N537VAGLKNWAWAE2Mus musculus, Rattus norvegicus
N537VAGLENWVWAE1Homo sapiens
N537VGGLENWVWAE1Bos taurus
N665FTDFISNETIA2Mus musculus, Rattus norvegicus
N665FSDFINNETIA1Homo sapiens
N665FADFINNETIA1Bos taurus
P347GAFSGPRIFDI3Mus musculus, Rattus norvegicus, Bos taurus
P347GAFSGPRIFDV1Homo sapiens
P405RGVDCPYLATY4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
Q315PAPPLQFYPQG1Homo sapiens
Q315PAPPLQFHPQG1Mus musculus
Q315RAPPLQFHPEG1Rattus norvegicus
Q315PTPPLQFHPQG1Bos taurus
R383AAMTTRYVDGG1Homo sapiens
R383ASMSTCYVDGS1Mus musculus
R383ASMSTCYMDGS1Rattus norvegicus
R383AAMLTRYMDGC1Bos taurus
R463TVLVVRSMSTL1Homo sapiens
R463TVLVVRSVSTL1Mus musculus
R463TVLVVRSVATL1Rattus norvegicus
R463TVLVFRSVSTL1Bos taurus
S464VLVVRSMSTLL1Homo sapiens
S464VLVVRSVSTLL1Mus musculus
S464VLVVRSVATLL1Rattus norvegicus
S464VLVFRSVSTLL1Bos taurus
S619PLPQESPIEKA2Mus musculus, Rattus norvegicus
S619PLPQNSSMARG1Homo sapiens
S619PLPQNSSTERA1Bos taurus
S646EPSSSSVFNQN2Homo sapiens, Bos taurus
S646EPSSSSIFNQN1Mus musculus
S646EPSSSSIYNQN1Rattus norvegicus
T210GRNLVTMTTAP1Homo sapiens
T210GQNLLTMTTAP1Mus musculus
T210GHNLLKMTTAP1Rattus norvegicus
T210GGNLVTMTTAP1Bos taurus
T212NLVTMTTAPRG2Homo sapiens, Bos taurus
T212NLLTMTTAPRG1Mus musculus
T212NLLKMTTAPRG1Rattus norvegicus
T477DYVWDTVFHPS1Homo sapiens
T477DYIWDMVFHPN1Mus musculus
T477DYVWDMVFHSN1Rattus norvegicus
T477DYVWDMVFHPN1Bos taurus
T635YHLAVTQRKEE2Mus musculus, Rattus norvegicus
T635YQLAVTQRKEE1Homo sapiens
T635YQLAVTQRKET1Bos taurus
V462ETVLVVRSMST1Homo sapiens
V462GTVLVVRSVST1Mus musculus
V462ETVLVVRSVAT1Rattus norvegicus
V462ETVLVFRSVST1Bos taurus
W475NYDYVWDMVFH2Rattus norvegicus, Bos taurus
W475NYDYVWDTVFH1Homo sapiens
W475NYDYIWDMVFH1Mus musculus
Y176VLFQEYLDIDQ1Homo sapiens
Y176VLDREYQDIEE1Mus musculus
Y176VLTREYQDIQE1Rattus norvegicus
Y176VLLREYLDIDQ1Bos taurus
Y384AMTTRYVDGGF1Homo sapiens
Y384SMSTCYVDGSF1Mus musculus
Y384SMSTCYMDGSF1Rattus norvegicus
Y384AMLTRYMDGCF1Bos taurus
Y394FGMGKYTTPLT1Homo sapiens
Y394FGIGKYSTPLI1Mus musculus
Y394FGIGKYSTPLT1Rattus norvegicus
Y394FGMGKFATPLT1Bos taurus
Y406GVDCPYLATYV4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
Y448HHSDFYSHYFG2Mus musculus, Rattus norvegicus
Y448HHSDLYSHYFG1Homo sapiens
Y448HHSDFISQYFG1Bos taurus
Y471STLLNYDYVWD2Homo sapiens, Bos taurus
Y471STLLNYDYIWD1Mus musculus
Y471ATLLNYDYVWD1Rattus norvegicus


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