mutLBSgeneDB

mutLBSgeneDB
mutated Ligand Binding Site gene DataBase

Home

	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 GUCA1C

Gene summary

Basic gene Info.	Gene symbol	GUCA1C
	Gene name	guanylate cyclase activator 1C
	Synonyms	GCAP3
	Cytomap	UCSC genome browser: 3q13.1
	Type of gene	protein-coding
	RefGenes	NM_005459.3,
	Description	GCAP 3guanylyl cyclase-activating protein 3
	Modification date	20141207
dbXrefs	MIM : 605128
	HGNC : HGNC
	Ensembl : ENSG00000138472
	HPRD : 05499
	Vega : OTTHUMG00000159204
Protein	UniProt: O95843 go to UniProt's Cross Reference DB Table
Expression	CleanEX: HS_GUCA1C
	BioGPS: 9626
Pathway	NCI Pathway Interaction Database: GUCA1C
	KEGG: GUCA1C
	REACTOME: GUCA1C
	Pathway Commons: GUCA1C
Context	iHOP: GUCA1C
	ligand binding site mutation search in PubMed: GUCA1C
	UCL Cancer Institute: GUCA1C
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

Top

Ligand binding site mutations for GUCA1C

Cancer type specific mutLBS sorted by frequency

LBS	AAchange of nsSNV	Cancer type	# samples
S107	S107Y	COAD	1
D143	K141N	LUAD	1
D143	D143Y	LUAD	1
D65	T63A	LUSC	1
D143	K141N	STAD	1
E154	F155S	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.

Top

Protein structure related information for GUCA1C

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
E154	F155S	-1.4635363
D65	T63A	-1.3874406
D143	D143Y	-0.89091659
D143	K141N	-0.80589357
S107	S107Y	-0.59272539

(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 GUCA1C from PDB

Top

Differential gene expression and gene-gene network for GUCA1C

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 GUCA1C and the right PPI network was created from samples without mutations in the LBS of GUCA1C. Only genes with p-value < 0.05 are shown.
Red circle: input gene. Orange circle: LBSgene. Blue circle: other gene.

Top

Phenotype information for GUCA1C

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