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 DEFA5
Gene summary
Basic gene Info.Gene symbolDEFA5
Gene namedefensin, alpha 5, Paneth cell-specific
SynonymsDEF5|HD-5
CytomapUCSC genome browser: 8p23.1
Type of geneprotein-coding
RefGenesNM_021010.2,
DescriptionHD5(20-94)defensin 5defensin, alpha 5, preproproteindefensin-5
Modification date20141207
dbXrefs MIM : 600472
HGNC : HGNC
Ensembl : ENSG00000164816
HPRD : 02720
Vega : OTTHUMG00000090383
ProteinUniProt: Q01523
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_DEFA5
BioGPS: 1670
PathwayNCI Pathway Interaction Database: DEFA5
KEGG: DEFA5
REACTOME: DEFA5
Pathway Commons: DEFA5
ContextiHOP: DEFA5
ligand binding site mutation search in PubMed: DEFA5
UCL Cancer Institute: DEFA5
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:0019731antibacterial humoral response15616305
GO:0045087innate immune response15616305


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Ligand binding site mutations for DEFA5

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
E83E83KSKCM1
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 DEFA5
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
E83E83K-0.50251911
(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 DEFA5 from PDB

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Differential gene expression and gene-gene network for DEFA5
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 DEFA5 and the right PPI network was created from samples without mutations in the LBS of DEFA5. 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 DEFA5
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0009324Colitis, Ulcerative2Biomarker
umls:C0009375Colonic Neoplasms2Biomarker
umls:C0017661Glomerulonephritis, IGA2Biomarker
umls:C0021390Inflammatory Bowel Diseases1Biomarker, GeneticVariation
umls:C0206677Adenomatous Polyps1Biomarker
umls:C0031269Peutz-Jeghers Syndrome1Biomarker

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

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Pharmacological information for DEFA5
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 DEFA5 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS


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Conservation information for LBS of DEFA5
Multiple alignments for Q01523 in multiple species
LBSAA sequence# speciesSpecies


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