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 CNDP1
Gene summary
Basic gene Info.Gene symbolCNDP1
Gene namecarnosine dipeptidase 1 (metallopeptidase M20 family)
CytomapUCSC genome browser: 18q22.3
Type of geneprotein-coding
DescriptionCNDP dipeptidase 1beta-Ala-His dipeptidasecarnosinase 1glutamate carboxypeptidase-like protein 2serum carnosinase
Modification date20141207
dbXrefs MIM : 609064
Ensembl : ENSG00000150656
HPRD : 09883
HPRD : 09894
Vega : OTTHUMG00000132852
ProteinUniProt: Q96KN2
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_CNDP1
BioGPS: 84735
PathwayNCI Pathway Interaction Database: CNDP1
Pathway Commons: CNDP1
ContextiHOP: CNDP1
ligand binding site mutation search in PubMed: CNDP1
UCL Cancer Institute: CNDP1
Assigned class in mutLBSgeneDBC: This gene just belongs to mutLBSgenes.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez

Ligand binding site mutations for CNDP1
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
LBSAAchange of nsSNVCancer type# samples
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.

Protein structure related information for CNDP1
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.
LBSAAchange of nsSNVRelative stability change
(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 CNDP1 from PDB

Differential gene expression and gene-gene network for CNDP1
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 CNDP1 and the right PPI network was created from samples without mutations in the LBS of CNDP1. Only genes with p-value < 0.05 are shown.
Red circle: input gene. Orange circle: LBSgene. Blue circle: other gene.


Phenotype information for CNDP1
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0011881Diabetic Nephropathies18Biomarker, GeneticVariation
umls:C3714756Intellectual Disability2Biomarker
umls:C0027854Neurologic Manifestations1Biomarker

Mutation level pathogenic information (ClinVar annotation)
Allele IDAA changeClinical significanceOriginPhenotype IDs

Pharmacological information for CNDP1
Drug information targeting mutLBSgene (Approved drugs only)
Drug statusDrugBank IDNameTypeDrug structure

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of CNDP1 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS

Conservation information for LBS of CNDP1
Multiple alignments for Q96KN2 in multiple species
LBSAA sequence# speciesSpecies
D165GRGATDNKGPV3Homo sapiens, Mus musculus, Rattus norvegicus
D228YIVISDNLWLS2Mus musculus, Rattus norvegicus
D228YIVISDNLWIS1Homo sapiens
E200IEGMEEAGSVA1Homo sapiens
E200LEGMEEAGSIA1Mus musculus
E200LEGMEEAGSVA1Rattus norvegicus
H132VCFYGHLDVQP3Homo sapiens, Mus musculus, Rattus norvegicus
H478VDDGEHSQNEK3Homo sapiens, Mus musculus, Rattus norvegicus

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