mutLBSgeneDB

mutLBSgeneDB
mutated Ligand Binding Site gene DataBase

Home

	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 ADH1B

Gene summary

Basic gene Info.	Gene symbol	ADH1B
	Gene name	alcohol dehydrogenase 1B (class I), beta polypeptide
	Synonyms	ADH2\|HEL-S-117
	Cytomap	UCSC genome browser: 4q23
	Type of gene	protein-coding
	RefGenes	NM_000668.5, NM_001286650.1,
	Description	ADH, beta subunitalcohol dehydrogenase 1Balcohol dehydrogenase 2 (class I), beta polypeptidealcohol dehydrogenase subunit betaaldehyde reductaseepididymis secretory protein Li 117
	Modification date	20141207
dbXrefs	MIM : 103720
	HGNC : HGNC
	Ensembl : ENSG00000196616
	HPRD : 00065
Protein	UniProt: P00325 go to UniProt's Cross Reference DB Table
Expression	CleanEX: HS_ADH1B
	BioGPS: 125
Pathway	NCI Pathway Interaction Database: ADH1B
	KEGG: ADH1B
	REACTOME: ADH1B
	Pathway Commons: ADH1B
Context	iHOP: ADH1B
	ligand binding site mutation search in PubMed: ADH1B
	UCL Cancer Institute: ADH1B
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:0006069	ethanol oxidation	2398055

Top

Ligand binding site mutations for ADH1B

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
R272	R272W	SKCM	2
V293	V291I	KIRC	1
L117	G118D	SKCM	1
L142	H140Y	SKCM	1
F94	P92S	SKCM	1
R48	H48Y	SKCM	1
H68	E69K	SKCM	1
L117	N115D	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.

Top

Protein structure related information for ADH1B

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
F94	P92S	-1.4925074
R272	R272W	-1.2847409
L117	G118D	-1.0819516
L117	N115D	-0.82836586
V293	V291I	-0.53918575
H68	E69K	-0.38867726
L142	H140Y	-0.014923845

(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 ADH1B from PDB

PDB ID	PDB title	PDB structure
1HSZ	HUMAN BETA-1 ALCOHOL DEHYDROGENASE (ADH1B*1)

Top

Differential gene expression and gene-gene network for ADH1B

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 ADH1B and the right PPI network was created from samples without mutations in the LBS of ADH1B. Only genes with p-value < 0.05 are shown.
Red circle: input gene. Orange circle: LBSgene. Blue circle: other gene.

Top

Phenotype information for ADH1B

Gene level disease information (DisGeNet)

Disease ID	Disease name	# PubMed	Association type
umls:C0001973	Alcoholism	121	Biomarker, GeneticVariation
umls:C0014859	Esophageal Neoplasms	35	Biomarker, GeneticVariation
umls:C0279626	Esophageal Squamous Cell Carcinoma	16	Biomarker, GeneticVariation
umls:C0026640	Mouth Neoplasms	5	Biomarker, GeneticVariation
umls:C0023055	Laryngeal Neoplasms	4	Biomarker, GeneticVariation
umls:C0031347	Pharyngeal Neoplasms	4	Biomarker, GeneticVariation
umls:C0009404	Colorectal Neoplasms	2	Biomarker, GeneticVariation
umls:C0314657	Genetic Predisposition to Disease	2	Biomarker
umls:C0007785	Cerebral Infarction	1	Biomarker, GeneticVariation
umls:C0028754	Obesity	1	Biomarker

Mutation level pathogenic information (ClinVar annotation)

Allele ID

AA change

Clinical significance

Origin

Phenotype IDs

Top

Pharmacological information for ADH1B

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.

Gene-centered drug-gene interaction network

Drug information targeting mutLBSgene (Approved drugs only)

Drug status	DrugBank ID	Name	Type	Drug structure
Nutraceutical	DB00157	NADH	Small molecule
Approved\|vet_approved	DB01213	Fomepizole	Small molecule
Experimental	DB02481	N-Benzylformamide	Small molecule
Experimental	DB02721	4-Iodopyrazole	Small molecule
Experimental	DB03461	2'-Monophosphoadenosine 5'-Diphosphoribose	Small molecule
Experimental	DB03703	Cyclohexanol	Small molecule
Experimental	DB04077	Glycerol	Small molecule
Experimental	DB04105	N-Heptylformamide	Small molecule