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 CPA2

Gene summary

Basic gene Info.	Gene symbol	CPA2
	Gene name	carboxypeptidase A2 (pancreatic)
	Synonyms	-
	Cytomap	UCSC genome browser: 7q32
	Type of gene	protein-coding
	RefGenes	NM_001869.2,
	Description	carboxypeptidase A2
	Modification date	20141207
dbXrefs	MIM : 600688
	HGNC : HGNC
	Ensembl : ENSG00000158516
	HPRD : 02821
	Vega : OTTHUMG00000157019
Protein	UniProt: P48052 go to UniProt's Cross Reference DB Table
Expression	CleanEX: HS_CPA2
	BioGPS: 1358
Pathway	NCI Pathway Interaction Database: CPA2
	KEGG: CPA2
	REACTOME: CPA2
	Pathway Commons: CPA2
Context	iHOP: CPA2
	ligand binding site mutation search in PubMed: CPA2
	UCL Cancer Institute: CPA2
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 CPA2

Cancer type specific mutLBS sorted by frequency

LBS	AAchange of nsSNV	Cancer type	# samples
H179	H179N	BRCA	1
H306	S307C	LUAD	1
H306	H306Y	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 CPA2

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
H179	H179N	0.009051788
H306	S307C	-0.61579513
H306	H306Y	-0.26508435

(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 CPA2 from PDB

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Differential gene expression and gene-gene network for CPA2

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 CPA2 and the right PPI network was created from samples without mutations in the LBS of CPA2. 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 CPA2

Gene level disease information (DisGeNet)

Disease ID	Disease name	# PubMed	Association type
umls:C0003130	Anoxia	1	Biomarker

Mutation level pathogenic information (ClinVar annotation)

Allele ID

AA change

Clinical significance

Origin

Phenotype IDs

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Pharmacological information for CPA2

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.