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 BTN3A1

Gene summary

Basic gene Info.	Gene symbol	BTN3A1
	Gene name	butyrophilin, subfamily 3, member A1
	Synonyms	BT3.1\|BTF5\|BTN3.1\|CD277
	Cytomap	UCSC genome browser: 6p22.1
	Type of gene	protein-coding
	RefGenes	NM_001145008.1, NM_001145009.1,NM_007048.5,NM_194441.2,
	Description	butyrophilin subfamily 3 member A1dJ45P21.3 (butyrophilin, subfamily 3, member A1)
	Modification date	20141207
dbXrefs	MIM : 613593
	HGNC : HGNC
	Ensembl : ENSG00000026950
	HPRD : 10693
	Vega : OTTHUMG00000014449
Protein	UniProt: O00481 go to UniProt's Cross Reference DB Table
Expression	CleanEX: HS_BTN3A1
	BioGPS: 11119
Pathway	NCI Pathway Interaction Database: BTN3A1
	KEGG: BTN3A1
	REACTOME: BTN3A1
	Pathway Commons: BTN3A1
Context	iHOP: BTN3A1
	ligand binding site mutation search in PubMed: BTN3A1
	UCL Cancer Institute: BTN3A1
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:0050663	cytokine secretion	21918970
GO:0050852	T cell receptor signaling pathway	21918970

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Ligand binding site mutations for BTN3A1

Cancer type specific mutLBS sorted by frequency

LBS	AAchange of nsSNV	Cancer type	# samples
R442	R442Q	COAD	1
R499	L501F	HNSC	1
R448,L444	E446A	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 BTN3A1

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
R448	E446A	-1.3072091
L444	E446A	-1.3072091
R442	R442Q	-1.0040896
R499	L501F	-0.76244614

(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 BTN3A1 from PDB

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Differential gene expression and gene-gene network for BTN3A1

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 BTN3A1 and the right PPI network was created from samples without mutations in the LBS of BTN3A1. 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 BTN3A1

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 BTN3A1

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.