mutated Ligand Binding Site gene DataBase





About Us

Bioinformatics and Systems Medicine Laboratory Bioinformatics and Systems Medicine Laboratory

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 HLA-DQA1
Gene summary
Basic gene Info.Gene symbolHLA-DQA1
Gene namemajor histocompatibility complex, class II, DQ alpha 1
CytomapUCSC genome browser: 6p21.3
Type of geneprotein-coding
DescriptionDC-1 alpha chainDC-alphaHLA class II histocompatibility antigen, DQ alpha 1 chainHLA class II histocompatibility antigen, DQ(W3) alpha chainHLA-DCAMHC HLA-DQ alphaMHC class II DQA1MHC class II HLA-D alpha glycoproteinMHC class II HLA-DQ-alpha-1MH
Modification date20141222
dbXrefs MIM : 146880
Ensembl : ENSG00000196735
HPRD : 06765
Vega : OTTHUMG00000031106
ProteinUniProt: P01909
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_HLA-DQA1
BioGPS: 3117
PathwayNCI Pathway Interaction Database: HLA-DQA1
Pathway Commons: HLA-DQA1
ContextiHOP: HLA-DQA1
ligand binding site mutation search in PubMed: HLA-DQA1
UCL Cancer Institute: HLA-DQA1
Assigned class in mutLBSgeneDBC: This gene just belongs to mutLBSgenes.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez

Ligand binding site mutations for HLA-DQA1

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 HLA-DQA1
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 HLA-DQA1 from PDB
PDB IDPDB titlePDB structure
4GG6Protein complex

Differential gene expression and gene-gene network for HLA-DQA1
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 HLA-DQA1 and the right PPI network was created from samples without mutations in the LBS of HLA-DQA1. Only genes with p-value < 0.05 are shown.
Red circle: input gene. Orange circle: LBSgene. Blue circle: other gene.


Phenotype information for HLA-DQA1
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0007570Celiac Disease70Biomarker, GeneticVariation
umls:C0024141Lupus Erythematosus, Systemic13Biomarker, GeneticVariation
umls:C0004096Asthma7Biomarker, GeneticVariation
umls:C0020517Hypersensitivity3Biomarker, GeneticVariation
umls:C0017665Glomerulonephritis, Membranous3Biomarker, GeneticVariation
umls:C0011603Dermatitis2Biomarker, GeneticVariation
umls:C0085179Eosinophilia-Myalgia Syndrome1Biomarker, GeneticVariation
umls:C0014848Esophageal Achalasia1Biomarker
umls:C0023290Leishmaniasis, Visceral1Biomarker

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

Pharmacological information for HLA-DQA1
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 HLA-DQA1 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS

Conservation information for LBS of HLA-DQA1
Multiple alignments for P01909 in multiple species
LBSAA sequence# speciesSpecies

Copyright © 2016-Present - The University of Texas Health Science Center at Houston
Site Policies | State of Texas