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 ATP7A
Gene summary
Basic gene Info.Gene symbolATP7A
Gene nameATPase, Cu++ transporting, alpha polypeptide
CytomapUCSC genome browser: Xq21.1
Type of geneprotein-coding
DescriptionCu++-transporting P-type ATPaseMenkes disease-associated proteincopper pump 1copper-transporting ATPase 1
Modification date20141219
dbXrefs MIM : 300011
Ensembl : ENSG00000165240
HPRD : 02054
Vega : OTTHUMG00000021885
ProteinUniProt: Q04656
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_ATP7A
BioGPS: 538
PathwayNCI Pathway Interaction Database: ATP7A
Pathway Commons: ATP7A
ContextiHOP: ATP7A
ligand binding site mutation search in PubMed: ATP7A
UCL Cancer Institute: ATP7A
Assigned class in mutLBSgeneDBC: This gene just belongs to mutLBSgenes.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez
GO:0051353positive regulation of oxidoreductase activity11092760

Ligand binding site mutations for ATP7A
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
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.

Protein structure related information for ATP7A
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
(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 ATP7A from PDB

Differential gene expression and gene-gene network for ATP7A
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 ATP7A and the right PPI network was created from samples without mutations in the LBS of ATP7A. Only genes with p-value < 0.05 are shown.
Red circle: input gene. Orange circle: LBSgene. Blue circle: other gene.


Phenotype information for ATP7A
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0022716Menkes Kinky Hair Syndrome83AlteredExpression, Biomarker, GeneticVariation
umls:C0268353Occipital horn syndrome20Biomarker, GeneticVariation
umls:C0003496Aortic Rupture1Biomarker
umls:C0009375Colonic Neoplasms1Biomarker
umls:C0012644Disease Models, Animal1Biomarker
umls:C0178324Vascular System Injuries1Biomarker

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

Pharmacological information for ATP7A
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.
Drug information targeting mutLBSgene (Approved drugs only)
Drug statusDrugBank IDNameTypeDrug structure

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of ATP7A go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS

Conservation information for LBS of ATP7A
Multiple alignments for Q04656 in multiple species
LBSAA sequence# speciesSpecies
A500TGMTCASCVAN1Homo sapiens
A500QGMTCGSCVST1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
A500QGMTCTSCVAS1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
A500NGMTCTSCSST1Arabidopsis thaliana
A500SGMTCASCVAN1Rattus norvegicus
C182-----------3Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Schizosaccharomyces pombe (strain 972 / ATCC 24843), Arabidopsis thaliana
C182VEGMTCHSCTS2Homo sapiens, Rattus norvegicus
C185-----------3Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Schizosaccharomyces pombe (strain 972 / ATCC 24843), Arabidopsis thaliana
C185MTCHSCTSTIE2Homo sapiens, Rattus norvegicus
C19-----------2Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Schizosaccharomyces pombe (strain 972 / ATCC 24843)
C19VEGMTCNSCVW1Homo sapiens
C19ATKLLSLTCIR1Arabidopsis thaliana
C19VEGMTCISCVR1Rattus norvegicus
C22-----------2Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Schizosaccharomyces pombe (strain 972 / ATCC 24843)
C22MTCNSCVWTIE1Homo sapiens
C22LLSLTCIR---1Arabidopsis thaliana
C22MTCISCVRTIE1Rattus norvegicus
C288IDGMHCKSCVS2Homo sapiens, Rattus norvegicus
C288-----------2Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Schizosaccharomyces pombe (strain 972 / ATCC 24843)
C288ID---------1Arabidopsis thaliana
C291-----------3Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Schizosaccharomyces pombe (strain 972 / ATCC 24843), Arabidopsis thaliana
C291MHCKSCVSNIE2Homo sapiens, Rattus norvegicus
C499VTGMTCASCVA1Homo sapiens
C499VQGMTCGSCVS1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
C499VQGMTCTSCVA1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
C499INGMTCTSCSS1Arabidopsis thaliana
C499VSGMTCASCVA1Rattus norvegicus
C502MTCASCVANIE2Homo sapiens, Rattus norvegicus
C502MTCGSCVSTVT1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
C502MTCTSCVASIQ1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
C502MTCTSCSSTIE1Arabidopsis thaliana
C578MTCASCVHKIE2Homo sapiens, Rattus norvegicus
C578AFEDESPLILS1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
C578PMQAEQWTKVH1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
C578ELTDESMKVIE1Arabidopsis thaliana
E1081IVGTAESNSEH2Homo sapiens, Rattus norvegicus
E1081CIKATESISDH1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
E1081FVKASESSSEH1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
E1081LVAATEVNSEH1Arabidopsis thaliana
G1089SEHPLGTAITK1Homo sapiens
G1089SDHPVSKAIIR1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
G1089SEHPIGKAITE1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
G1089SEHPLAKAIVE1Arabidopsis thaliana
G1089SEHPLGAAVTK1Rattus norvegicus
G1116FQVVPGCGISC2Homo sapiens, Rattus norvegicus
G1116YVLGKGIVSKC1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
G1116FNAVPGEGVDV1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
G1116FVSITGKGVKA1Arabidopsis thaliana
G1118VVPGCGISCKV2Homo sapiens, Rattus norvegicus
G1118LGKGIVSKCQV1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
G1118AVPGEGVDVVL1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
G1118SITGKGVKATV1Arabidopsis thaliana
G1183YKVLIGNREWM2Homo sapiens, Rattus norvegicus
G1183YDICIGNEALI1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
G1183FHALLGNSLLL1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
G1183--IMVGNKNLM1Arabidopsis thaliana
H1086ESNSEHPLGTA1Homo sapiens
H1086ESISDHPVSKA1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
H1086ESSSEHPIGKA1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
H1086EVNSEHPLAKA1Arabidopsis thaliana
H1086ESNSEHPLGAA1Rattus norvegicus
I1182QYKVLIGNREW2Homo sapiens, Rattus norvegicus
I1182-YDICIGNEAL1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
I1182TFHALLGNSLL1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
I1182---IMVGNKNL1Arabidopsis thaliana
K289DGMHCKSCVSN2Homo sapiens, Rattus norvegicus
K289-----------2Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Schizosaccharomyces pombe (strain 972 / ATCC 24843)
K289D----------1Arabidopsis thaliana
L1088NSEHPLGTAIT1Homo sapiens
L1088ISDHPVSKAII1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
L1088SSEHPIGKAIT1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
L1088NSEHPLAKAIV1Arabidopsis thaliana
L1088NSEHPLGAAVT1Rattus norvegicus
M286-----------2Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Schizosaccharomyces pombe (strain 972 / ATCC 24843)
M286FIIDGMHCKSC1Homo sapiens
M286FEID-------1Arabidopsis thaliana
M286FTIDGMHCKSC1Rattus norvegicus
N1184KVLIGNREWMI2Homo sapiens, Rattus norvegicus
N1184DICIGNEALIL1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
N1184HALLGNSLLLE1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
N1184-IMVGNKNLMN1Arabidopsis thaliana
N20-----------2Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Schizosaccharomyces pombe (strain 972 / ATCC 24843)
N20EGMTCNSCVWT1Homo sapiens
N20TKLLSLTCIR-1Arabidopsis thaliana
N20EGMTCISCVRT1Rattus norvegicus
P1087SNSEHPLGTAI1Homo sapiens
P1087SISDHPVSKAI1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
P1087SSSEHPIGKAI1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
P1087VNSEHPLAKAI1Arabidopsis thaliana
P1087SNSEHPLGAAV1Rattus norvegicus
S21-----------2Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Schizosaccharomyces pombe (strain 972 / ATCC 24843)
S21GMTCNSCVWTI1Homo sapiens
S21KLLSLTCIR--1Arabidopsis thaliana
S21GMTCISCVRTI1Rattus norvegicus
S290-----------3Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Schizosaccharomyces pombe (strain 972 / ATCC 24843), Arabidopsis thaliana
S290GMHCKSCVSNI2Homo sapiens, Rattus norvegicus
T18-----------2Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Schizosaccharomyces pombe (strain 972 / ATCC 24843)
T18SVEGMTCNSCV1Homo sapiens
T18MATKLLSLTCI1Arabidopsis thaliana
T18TVEGMTCISCV1Rattus norvegicus
T498QVTGMTCASCV1Homo sapiens
T498SVQGMTCGSCV1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
T498SVQGMTCTSCV1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
T498RINGMTCTSCS1Arabidopsis thaliana
T498QVSGMTCASCV1Rattus norvegicus
V1214KGRTAVLVAVD1Homo sapiens
V1214QGNTVSYVSVN1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
V1214SGLTCVRIAID1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
V1214MAQTGILVSIN1Arabidopsis thaliana
V1214RGRTAVLVTID1Rattus norvegicus

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