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 BTRC

Gene summary

Basic gene Info.	Gene symbol	BTRC
	Gene name	beta-transducin repeat containing E3 ubiquitin protein ligase
	Synonyms	BETA-TRCP\|FBW1A\|FBXW1\|FBXW1A\|FWD1\|bTrCP\|bTrCP1\|betaTrCP
	Cytomap	UCSC genome browser: 10q24.32
	Type of gene	protein-coding
	RefGenes	NM_001256856.1, NM_003939.4,NM_033637.3,
	Description	E3RSIkappaBF-box and WD repeats protein beta-TrCPF-box and WD-repeat protein 1BF-box/WD repeat-containing protein 1Abeta-TrCP1epididymis tissue protein Li 2apIkappaBalpha-E3 receptor subunit
	Modification date	20141207
dbXrefs	MIM : 603482
	HGNC : HGNC
	Ensembl : ENSG00000166167
	HPRD : 04596
	Vega : OTTHUMG00000018932
Protein	UniProt: Q9Y297 go to UniProt's Cross Reference DB Table
Expression	CleanEX: HS_BTRC
	BioGPS: 8945
Pathway	NCI Pathway Interaction Database: BTRC
	KEGG: BTRC
	REACTOME: BTRC
	Pathway Commons: BTRC
Context	iHOP: BTRC
	ligand binding site mutation search in PubMed: BTRC
	UCL Cancer Institute: BTRC
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:0006511	ubiquitin-dependent protein catabolic process	15448698
GO:0016567	protein ubiquitination	16885022
GO:0042752	regulation of circadian rhythm	15917222
GO:0043161	proteasome-mediated ubiquitin-dependent protein catabolic process	15917222

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Ligand binding site mutations for BTRC

Cancer type specific mutLBS sorted by frequency

LBS	AAchange of nsSNV	Cancer type	# samples
R321	R321Q	COAD	1
R403	R403C	SKCM	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 BTRC

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
R321	R321Q	-1.0680961
R403	R403C	-0.93642624

(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 BTRC from PDB

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Differential gene expression and gene-gene network for BTRC

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

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 BTRC

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.