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 GOPC

Gene summary

Basic gene Info.	Gene symbol	GOPC
	Gene name	golgi-associated PDZ and coiled-coil motif containing
	Synonyms	CAL\|FIG\|GOPC1\|PIST\|dJ94G16.2
	Cytomap	UCSC genome browser: 6q21
	Type of gene	protein-coding
	RefGenes	NM_001017408.2, NM_020399.3,
	Description	CFTR-associated ligandGolgi associated PDZ and coiled-coil motif containing proteinGolgi-associated PDZ and coiled-coil motif-containing proteinPDZ protein interacting specifically with TC10PDZ/coiled-coil domain binding partner for the rho-family GTP
	Modification date	20141207
dbXrefs	MIM : 606845
	HGNC : HGNC
	Ensembl : ENSG00000047932
	HPRD : 06024
	Vega : OTTHUMG00000015457
Protein	UniProt: Q9HD26 go to UniProt's Cross Reference DB Table
Expression	CleanEX: HS_GOPC
	BioGPS: 57120
Pathway	NCI Pathway Interaction Database: GOPC
	KEGG: GOPC
	REACTOME: GOPC
	Pathway Commons: GOPC
Context	iHOP: GOPC
	ligand binding site mutation search in PubMed: GOPC
	UCL Cancer Institute: GOPC
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 GOPC

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
K348	K348N	COAD	1
S357	Q358H	COAD	1
Q322	G321W	LUAD	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 GOPC

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
Q322	G321W	0.041933487
K348	K348N	-1.2418288
S357	Q358H	-0.18794791

(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 GOPC from PDB

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Differential gene expression and gene-gene network for GOPC

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

Gene level disease information (DisGeNet)

Disease ID	Disease name	# PubMed	Association type
umls:C0025202	Melanoma	1	Biomarker

Mutation level pathogenic information (ClinVar annotation)

Allele ID

AA change

Clinical significance

Origin

Phenotype IDs

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Pharmacological information for GOPC

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 GOPC go to BioLip

Ligand ID	Ligand short name	Ligand long name	PDB ID	PDB name	mutLBS
III		Peptide ligand (ARG,TRP,GLN,ASP,THR,ARG,LEU)	4k75	A	Q322
III		Peptide ligand (ALA,ASN,SER,ARG,TRP,GLN,ASP,THR,ARG,LEU)	4k78	A	Q322
III		Peptide ligand (SER,ARG,TRP,PRO,THR,THR,ARG,LEU)	4k76	A	Q322
III		Peptide ligand (ARG,TRP,PRO,THR,THR,ARG,LEU)	4k76	C	Q322
III		Peptide ligand (TRP,PRO,THR,THR,ARG,LEU)	4k76	D	Q322
III		Peptide ligand (VAL,GLN,ASP,THR,ARG,LEU)	4q6h	A	Q322
III		Peptide ligand (LEU,PRO,THR,SER,ILE,ILE)	4jof	B	S357
III		Peptide ligand (PRO,THR,SER,ILE,ILE)	4joh	A	S357
III		Peptide ligand (THR,ARG,ARG,GLU,THR,GLN,LEU)	4jop	B	S357
III		Peptide ligand (ARG,LEU,GLN,ARG,ARG,ARG,GLU,THR,GLN,VAL)	4jor	A	S357
III		Peptide ligand (ALA,ASN,SER,ARG,TRP,GLN,THR,SER,ILE,ILE)	4k6y	B	S357
III		Peptide ligand (ASP,SER,ILE,ILE)	4k72	A	S357
III		Peptide ligand (ALA,ASN,SER,ARG,TRP,PRO,LYS,SER,ILE,ILE)	4nmp	B	S357
III		Peptide ligand (ALA,ASN,SER,ARG,TRP,LYS,THR,SER,ILE,ILE)	4nmq	B	S357
III		Peptide ligand (LYS,PRO,THR,SER,ILE,ILE)	4nmr	B	S357
III		Peptide ligand (ALA,ASN,SER,ARG,TRP,PRO,THR,SER,LYS,ILE)	4nmt	B	S357

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Conservation information for LBS of GOPC

Multiple alignments for Q9HD26 in multiple species

LBS

AA sequence

# species

Species