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 CPB1

Gene summary

Basic gene Info.	Gene symbol	CPB1
	Gene name	carboxypeptidase B1 (tissue)
	Synonyms	CPB\|PASP\|PCPB
	Cytomap	UCSC genome browser: 3q24
	Type of gene	protein-coding
	RefGenes	NM_001871.2,
	Description	carboxypeptidase Bpancreas-specific proteinpancreatic carboxypeptidase Bprocarboxypeptidase Bprotaminasetissue carboxypeptidase B
	Modification date	20141207
dbXrefs	MIM : 114852
	HGNC : HGNC
	Ensembl : ENSG00000153002
	HPRD : 00271
	Vega : OTTHUMG00000159520
Protein	UniProt: P15086 go to UniProt's Cross Reference DB Table
Expression	CleanEX: HS_CPB1
	BioGPS: 1360
Pathway	NCI Pathway Interaction Database: CPB1
	KEGG: CPB1
	REACTOME: CPB1
	Pathway Commons: CPB1
Context	iHOP: CPB1
	ligand binding site mutation search in PubMed: CPB1
	UCL Cancer Institute: CPB1
Assigned class in mutLBSgeneDB	B: This gene belongs to targetable_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 CPB1

Cancer type specific mutLBS sorted by frequency

LBS	AAchange of nsSNV	Cancer type	# samples
E179	R178K	BRCA	1
N251	P250H	LUAD	1
N251	P250H	LUSC	1
H304	H304Y	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 CPB1

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
E179	R178K	-1.2253781
N251	P250H	-1.1504555
H304	H304Y	-0.60313895

(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 CPB1 from PDB

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Differential gene expression and gene-gene network for CPB1

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 CPB1 and the right PPI network was created from samples without mutations in the LBS of CPB1. 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 CPB1

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 CPB1

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.

Gene-centered drug-gene interaction network

Drug information targeting mutLBSgene (Approved drugs only)

Drug status	DrugBank ID	Name	Type	Drug structure
Nutraceutical\|vet_approved	DB04272	Citric Acid	Small molecule
Experimental	DB04723	2-(3-GUANIDINOPHENYL)-3-MERCAPTOPROPANOIC ACID	Small molecule
Experimental	DB06835	(2S)-2-[3-(AMINOMETHYL)PHENYL]-3-{(S)-HYDROXY[(1R)-2-METHYL-1-{[(2-PHENYLETHYL)SULFONYL]AMINO}PROPYL]PHOSPHORYL}PROPANOIC ACID	Small molecule
Experimental	DB06921	(2S)-2-[3-(AMINOMETHYL)PHENYL]-3-[(R)-HYDROXY{(1R)-2-METHYL-1-[(PHENYLSULFONYL)AMINO]PROPYL}PHOSPHORYL]PROPANOIC ACID	Small molecule
Experimental	DB07136	(2S)-2-[3-(AMINOMETHYL)PHENYL]-3-{(R)-HYDROXY[(1R)-2-METHYL-1-{[(3-PHENYLPROPYL)SULFONYL]AMINO}PROPYL]PHOSPHORYL}PROPANOIC ACID	Small molecule
Experimental	DB07157	(5R,6S,8S)-8-[3-(AMINOMETHYL)PHENYL]-6-HYDROXY-5-ISOPROPYL-3-OXO-1-PHENYL-2,7-DIOXA-4-AZA-6-PHOSPHANONAN-9-OIC ACID 6-OXIDE	Small molecule
Experimental	DB07182	(2S)-2-(3-{[AMINO(IMINO)METHYL]AMINO}PHENYL)-3-[(S)-HYDROXY(3-PHENYLPROPYL)PHOSPHORYL]PROPANOIC ACID	Small molecule
Experimental	DB07269	(2S)-2-[3-(AMINOMETHYL)PHENYL]-3-[(R)-[(1R)-1-{[(BENZYLOXY)CARBONYL]AMINO}-2-METHYLPROPYL](HYDROXY)PHOSPHORYL]PROPANOIC ACID	Small molecule