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 AKR7A3

Gene summary

Basic gene Info.	Gene symbol	AKR7A3
	Gene name	aldo-keto reductase family 7, member A3 (aflatoxin aldehyde reductase)
	Synonyms	AFAR2
	Cytomap	UCSC genome browser: 1p36.13
	Type of gene	protein-coding
	RefGenes	NM_012067.2,
	Description	AFB1 aldehyde reductase 2AFB1-AR 2aflatoxin B1 aldehyde reductase 2aflatoxin B1 aldehyde reductase member 3
	Modification date	20141207
dbXrefs	MIM : 608477
	HGNC : HGNC
	HPRD : 07089
Protein	UniProt: O95154 go to UniProt's Cross Reference DB Table
Expression	CleanEX: HS_AKR7A3
	BioGPS: 22977
Pathway	NCI Pathway Interaction Database: AKR7A3
	KEGG: AKR7A3
	REACTOME: AKR7A3
	Pathway Commons: AKR7A3
Context	iHOP: AKR7A3
	ligand binding site mutation search in PubMed: AKR7A3
	UCL Cancer Institute: AKR7A3
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 AKR7A3

Cancer type specific mutLBS sorted by frequency

LBS	AAchange of nsSNV	Cancer type	# samples
Y49	V48L	GBM	1
E243	E243V	LUAD	1
P199	P199S	SKCM	1
A201	A201T	UCEC	1
Y232	Y232H	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 AKR7A3

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
Y232	Y232H	-0.91193618
A201	A201T	-0.79787469
P199	P199S	-0.69713792
Y49	V48L	-0.64642747
E243	E243V	-0.34911185

(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 AKR7A3 from PDB

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Differential gene expression and gene-gene network for AKR7A3

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 AKR7A3 and the right PPI network was created from samples without mutations in the LBS of AKR7A3. 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 AKR7A3

Gene level disease information (DisGeNet)

Disease ID

Disease name

# PubMed

Association type

Mutation level pathogenic information (ClinVar annotation)

Allele ID

AA change

Clinical significance

Origin

Phenotype IDs

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Pharmacological information for AKR7A3

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.