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 symbol	DEFA5
	Gene name	defensin, alpha 5, Paneth cell-specific
	Synonyms	DEF5\|HD-5
	Cytomap	UCSC genome browser: 8p23.1
	Type of gene	protein-coding
	RefGenes	NM_021010.2,
	Description	HD5(20-94)defensin 5defensin, alpha 5, preproproteindefensin-5
	Modification date	20141207
dbXrefs	MIM : 600472
	HGNC : HGNC
	Ensembl : ENSG00000164816
	HPRD : 02720
	Vega : OTTHUMG00000090383
Protein	UniProt: Q01523 go to UniProt's Cross Reference DB Table
Expression	CleanEX: HS_DEFA5
	BioGPS: 1670
Pathway	NCI Pathway Interaction Database: DEFA5
	KEGG: DEFA5
	REACTOME: DEFA5
	Pathway Commons: DEFA5
Context	iHOP: DEFA5
	ligand binding site mutation search in PubMed: DEFA5
	UCL Cancer Institute: DEFA5
Assigned class in mutLBSgeneDB	C: This gene just belongs to mutLBSgenes.

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

GO ID	GO Term	PubMed ID
GO:0019731	antibacterial humoral response	15616305
GO:0045087	innate immune response	15616305

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Ligand binding site mutations for DEFA5

Cancer type specific mutLBS sorted by frequency

LBS	AAchange of nsSNV	Cancer type	# samples
E83	E83K	SKCM	1

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.

LBS	AAchange of nsSNV	Relative stability change
E83	E83K	-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 ID	Disease name	# PubMed	Association type
umls:C0009324	Colitis, Ulcerative	2	Biomarker
umls:C0009375	Colonic Neoplasms	2	Biomarker
umls:C0017661	Glomerulonephritis, IGA	2	Biomarker
umls:C0021390	Inflammatory Bowel Diseases	1	Biomarker, GeneticVariation
umls:C0206677	Adenomatous Polyps	1	Biomarker
umls:C0031269	Peutz-Jeghers Syndrome	1	Biomarker

Mutation level pathogenic information (ClinVar annotation)

Allele ID

AA change

Clinical significance

Origin

Phenotype 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.