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 DCD

Gene summary

Basic gene Info.	Gene symbol	DCD
	Gene name	dermcidin
	Synonyms	AIDD\|DCD-1\|DSEP\|HCAP\|PIF
	Cytomap	UCSC genome browser: 12q13.1
	Type of gene	protein-coding
	RefGenes	NM_001300854.1, NM_053283.3,
	Description	diffusible survival/evasion peptidepreproteolysinproteolysis inducing factorsurvival promoting peptide
	Modification date	20141207
dbXrefs	MIM : 606634
	HGNC : HGNC
	Ensembl : ENSG00000161634
	HPRD : 07363
	Vega : OTTHUMG00000169937
Protein	UniProt: P81605 go to UniProt's Cross Reference DB Table
Expression	CleanEX: HS_DCD
	BioGPS: 117159
Pathway	NCI Pathway Interaction Database: DCD
	KEGG: DCD
	REACTOME: DCD
	Pathway Commons: DCD
Context	iHOP: DCD
	ligand binding site mutation search in PubMed: DCD
	UCL Cancer Institute: DCD
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

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Ligand binding site mutations for DCD

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

LBS	AAchange of nsSNV	Cancer type	# samples
D90	E89G	COAD	1
D90	E89K	UCEC	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 DCD

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
D90	E89G	-0.30432729
D90	E89K	-0.034018075

(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 DCD from PDB

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Differential gene expression and gene-gene network for DCD

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 DCD and the right PPI network was created from samples without mutations in the LBS of DCD. 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 DCD

Gene level disease information (DisGeNet)