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 INHBA
Gene summary
Basic gene Info.Gene symbolINHBA
Gene nameinhibin, beta A
SynonymsEDF|FRP
CytomapUCSC genome browser: 7p15-p13
Type of geneprotein-coding
RefGenesNM_002192.2,
DescriptionFSH-releasing proteinInhibin, beta-1activin beta-A chainerythroid differentiation factorerythroid differentiation proteinfollicle-stimulating hormone-releasing proteininhibin beta A chaininhibin, beta A (activin A, activin AB alpha polypeptide)
Modification date20141222
dbXrefs MIM : 147290
HGNC : HGNC
HPRD : 00929
ProteinUniProt: P08476
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_INHBA
BioGPS: 3624
PathwayNCI Pathway Interaction Database: INHBA
KEGG: INHBA
REACTOME: INHBA
Pathway Commons: INHBA
ContextiHOP: INHBA
ligand binding site mutation search in PubMed: INHBA
UCL Cancer Institute: INHBA
Assigned class in mutLBSgeneDBC: This gene just belongs to mutLBSgenes.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez
GO IDGO TermPubMed ID
GO:0000082G1/S transition of mitotic cell cycle9884026
GO:0002244hematopoietic progenitor cell differentiation15451575
GO:0006357regulation of transcription from RNA polymerase II promoter11948405
GO:0007050cell cycle arrest9884026
GO:0008285negative regulation of cell proliferation11948405
GO:0010862positive regulation of pathway-restricted SMAD protein phosphorylation19736306
GO:0030308negative regulation of cell growth20573232
GO:0032270positive regulation of cellular protein metabolic process21828274
GO:0032924activin receptor signaling pathway9884026
GO:0035987endodermal cell differentiation21828274
GO:0042493response to drug20573232
GO:0042541hemoglobin biosynthetic process1310063
GO:0045648positive regulation of erythrocyte differentiation9032295
GO:0045786negative regulation of cell cycle9884026
GO:0045893positive regulation of transcription, DNA-templated21281489
GO:0045944positive regulation of transcription from RNA polymerase II promoter12702211
GO:0097191extrinsic apoptotic signaling pathway9884026
GO:2001241positive regulation of extrinsic apoptotic signaling pathway in absence of ligand8267637


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Ligand binding site mutations for INHBA
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
K388L387IUCEC1
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 INHBA
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
K388L387I-0.48698757
(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 INHBA from PDB

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Differential gene expression and gene-gene network for INHBA
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 INHBA and the right PPI network was created from samples without mutations in the LBS of INHBA. 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 INHBA
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0032914Pre-Eclampsia2AlteredExpression, Biomarker
umls:C0023267Leiomyoma1Biomarker
umls:C0162557Liver Failure, Acute1Biomarker
umls:C0042138Uterine Neoplasms1Biomarker

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

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Pharmacological information for INHBA
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 INHBA go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS


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Conservation information for LBS of INHBA
Multiple alignments for P08476 in multiple species
LBSAA sequence# speciesSpecies
C390ANLKSCCVPTK5Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus, Bos taurus
C390NGMRPCCAPIK1Drosophila melanogaster
K388PFANLKSCCVP5Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus, Bos taurus
K388-MNGMRPCCAP1Drosophila melanogaster
S13GFLLASC----4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
S13CFFNCQCICCR1Drosophila melanogaster
S13GFLLVIC----1Gallus gallus
S389FANLKSCCVPT5Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus, Bos taurus
S389MNGMRPCCAPI1Drosophila melanogaster


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