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 CTNND1

Gene summary

Basic gene Info.	Gene symbol	CTNND1
	Gene name	catenin (cadherin-associated protein), delta 1
	Synonyms	CAS\|CTNND\|P120CAS\|P120CTN\|p120\|p120(CAS)\|p120(CTN)
	Cytomap	UCSC genome browser: 11q11
	Type of gene	protein-coding
	RefGenes	NM_001085458.1, NM_001085459.1,NM_001085460.1,NM_001085461.1,NM_001085462.1, NM_001085463.1,NM_001085464.1,NM_001085465.1,NM_001085466.1, NM_001085467.1,NM_001085468.1,NM_001085469.1,NM_001206883.1, NM_001206884.1,NM_001206885.1,NM_001206886.1,NM_001206887.1, NM_001206888.1,NM_001206889.1,NM_001206890.1,NM_001206891.1, NM_001331.2,
	Description	cadherin-associated Src substratecatenin delta-1p120 catenin
	Modification date	20141207
dbXrefs	MIM : 601045
	HGNC : HGNC
	Ensembl : ENSG00000198561
	HPRD : 03026
	Vega : OTTHUMG00000167272
Protein	UniProt: O60716 go to UniProt's Cross Reference DB Table
Expression	CleanEX: HS_CTNND1
	BioGPS: 1500
Pathway	NCI Pathway Interaction Database: CTNND1
	KEGG: CTNND1
	REACTOME: CTNND1
	Pathway Commons: CTNND1
Context	iHOP: CTNND1
	ligand binding site mutation search in PubMed: CTNND1
	UCL Cancer Institute: CTNND1
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 CTNND1

Cancer type specific mutLBS sorted by frequency

LBS	AAchange of nsSNV	Cancer type	# samples
A381,F377	L379V	COAD	1
N362	P361H	COAD	1
G474	T475P	COAD	1
H392	H392Y	LUAD	1
F377	R378L	LUAD	1
G474	I472S	LUSC	1
K486	M487K	STAD	1
K444	K444T	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 CTNND1

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
G474	I472S	-1.320874
K444	K444T	-1.2420726
N362	P361H	-1.1831193
F377	L379V	-1.1304552
A381	L379V	-1.1304552
G474	T475P	-1.0871957
K486	M487K	-1.0652412
H392	H392Y	-0.76135143
F377	R378L	-0.20012637

(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 CTNND1 from PDB

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Differential gene expression and gene-gene network for CTNND1

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 CTNND1 and the right PPI network was created from samples without mutations in the LBS of CTNND1. 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 CTNND1

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 CTNND1

Drug information targeting mutLBSgene (Approved drugs only)

Drug status

DrugBank ID

Name

Type

Drug structure

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of CTNND1 go to BioLip

Ligand ID	Ligand short name	Ligand long name	PDB ID	PDB name	mutLBS
III		Peptide ligand (ASP,GLU,GLU,GLY,GLY,GLY,GLU,GLU,ASP,GLN,ASP,PHE,ASP,LEU,SER,GLN,LEU,HIS)	3l6y	E	N362 F377 A381 H392 K444 G474 K486
III		Peptide ligand (ASP,GLU,GLU,GLY,GLY,GLY,GLU,GLU,ASP,GLN,ASP,PHE,ASP,LEU,SER,GLN,LEU,HIS)	3l6y	C	N362 F377 H392 K444 G474 K486
III		Peptide ligand (ASP,GLU,GLU,GLY,GLY,GLY,GLU,GLU,ASP,GLN,ASP,PHE,ASP,LEU,SER,GLN,LEU,HIS)	3l6x	A	N362 H392 K444 G474 K486
III		Peptide ligand (ASP,GLU,GLU,GLY,GLY,GLY,GLU,GLU,ASP,GLN,ASP,PHE,ASP,LEU,SER,GLN,LEU,HIS)	3l6y	A	N362 H392 K444 G474 K486

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Conservation information for LBS of CTNND1

Multiple alignments for O60716 in multiple species

LBS

AA sequence

# species

Species