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 DTNA

Gene summary

Basic gene Info.	Gene symbol	DTNA
	Gene name	dystrobrevin, alpha
	Synonyms	D18S892E\|DRP3\|DTN\|DTN-A\|LVNC1
	Cytomap	UCSC genome browser: 18q12
	Type of gene	protein-coding
	RefGenes	NM_001128175.1, NM_001198938.1,NM_001198939.1,NM_001198940.1,NM_001198941.1, NM_001198942.1,NM_001198943.1,NM_001198944.1,NM_001198945.1, NM_001390.4,NM_001391.5,NM_001392.4,NM_032975.3, NM_032978.6,NM_032979.4,NM_032980.3,NM_032981.4,
	Description	dystrobrevin alphadystrophin-related protein 3
	Modification date	20141207
dbXrefs	MIM : 601239
	HGNC : HGNC
	Ensembl : ENSG00000134769
	HPRD : 03141
	Vega : OTTHUMG00000132309
Protein	UniProt: Q9Y4J8 go to UniProt's Cross Reference DB Table
Expression	CleanEX: HS_DTNA
	BioGPS: 1837
Pathway	NCI Pathway Interaction Database: DTNA
	KEGG: DTNA
	REACTOME: DTNA
	Pathway Commons: DTNA
Context	iHOP: DTNA
	ligand binding site mutation search in PubMed: DTNA
	UCL Cancer Institute: DTNA
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 DTNA

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
C246	C246S	COAD	1
C270	W272C	LUAD	1
C246	C246S	LUSC	1
C258	R257L	OV	1
H284	M286I	STAD	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 DTNA

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
C246	C246S	-1.3307404
H284	M286I	-1.1969534
C270	W272C	-0.81175987
C258	R257L	-0.442017

(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 DTNA from PDB

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Differential gene expression and gene-gene network for DTNA

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

Gene level disease information (DisGeNet)

Disease ID	Disease name	# PubMed	Association type
umls:C1858725	Noncompaction of Left Ventricular Myocardium, Familial Isolated, Autosomal Dominant 1	1	Biomarker, GeneticVariation

Mutation level pathogenic information (ClinVar annotation)

Allele ID

AA change

Clinical significance

Origin

Phenotype IDs

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Pharmacological information for DTNA

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.