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 TPP1
Gene summary
Basic gene Info.Gene symbolTPP1
Gene nametripeptidyl peptidase I
SynonymsCLN2|LPIC|SCAR7|TPP-1
CytomapUCSC genome browser: 11p15
Type of geneprotein-coding
RefGenesNM_000391.3,
Descriptioncell growth-inhibiting gene 1 proteingrowth-inhibiting protein 1lysosomal pepstatin insensitive proteasetripeptidyl aminopeptidasetripeptidyl-peptidase 1
Modification date20141219
dbXrefs MIM : 607998
HGNC : HGNC
Ensembl : ENSG00000166340
HPRD : 06415
Vega : OTTHUMG00000133404
ProteinUniProt: O14773
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_TPP1
BioGPS: 1200
PathwayNCI Pathway Interaction Database: TPP1
KEGG: TPP1
REACTOME: TPP1
Pathway Commons: TPP1
ContextiHOP: TPP1
ligand binding site mutation search in PubMed: TPP1
UCL Cancer Institute: TPP1
Assigned class in mutLBSgeneDBC: This gene just belongs to mutLBSgenes.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez
GO IDGO TermPubMed ID


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Ligand binding site mutations for TPP1
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
H149T148ACOAD1
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 TPP1
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
H149T148A-1.6444095
(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 TPP1 from PDB

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Differential gene expression and gene-gene network for TPP1
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 TPP1 and the right PPI network was created from samples without mutations in the LBS of TPP1. 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 TPP1
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0027877Neuronal Ceroid-Lipofuscinoses31AlteredExpression, Biomarker, GeneticVariation
umls:C0002395Alzheimer Disease1Biomarker
umls:C0031117Peripheral Nervous System Diseases1Biomarker
umls:C0033578Prostatic Neoplasms1Biomarker

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

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Pharmacological information for TPP1
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.
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 TPP1 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
ZNZINC(2+)3ee6AH149
ZNZINC(2+)3ee6BH149


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Conservation information for LBS of TPP1
Multiple alignments for O14773 in multiple species
LBSAA sequence# speciesSpecies
D457VAALSDGYWVV6Homo sapiens, Mus musculus, Rattus norvegicus, Pan troglodytes, Canis lupus familiaris, Bos taurus
D517GAGLFDVTRGC4Homo sapiens, Pan troglodytes, Canis lupus familiaris, Bos taurus
D517GTGLFDVTHGC1Mus musculus
D517GAGLFDVTHGC1Rattus norvegicus
D543SGPGWDPVTGW6Homo sapiens, Mus musculus, Rattus norvegicus, Pan troglodytes, Canis lupus familiaris, Bos taurus
E137LLPGAEFHHYV2Homo sapiens, Pan troglodytes
E137LLPGAEFHRYV2Mus musculus, Rattus norvegicus
E137LLSGAEFHRYV1Canis lupus familiaris
E137LLSGAEFHHYV1Bos taurus
E45RADPEEELSLT3Homo sapiens, Pan troglodytes, Bos taurus
E45RVDPEEELSLT2Mus musculus, Rattus norvegicus
E45RVDSEEELSLT1Canis lupus familiaris
G539QGFCSGPGWDP6Homo sapiens, Mus musculus, Rattus norvegicus, Pan troglodytes, Canis lupus familiaris, Bos taurus
G541FCSGPGWDPVT6Homo sapiens, Mus musculus, Rattus norvegicus, Pan troglodytes, Canis lupus familiaris, Bos taurus
H140GAEFHHYVGGP3Homo sapiens, Pan troglodytes, Bos taurus
H140GAEFHRYVGGP3Mus musculus, Rattus norvegicus, Canis lupus familiaris
H149GPTETHVVRSP2Homo sapiens, Pan troglodytes
H149GPTKTHVIRSP1Mus musculus
H149GPAKTHIIRSP1Rattus norvegicus
H149GPTEIHVIRSL1Canis lupus familiaris
H149GPAETHAVRSL1Bos taurus
H155VVRSPHPYQLP2Homo sapiens, Pan troglodytes
H155VIRSPHPYQLP1Mus musculus
H155IIRSPHPYQLP1Rattus norvegicus
H155VIRSLRPYQLP1Canis lupus familiaris
H155AVRSLHPYRLP1Bos taurus
H197GTVGLHLGVTP4Homo sapiens, Pan troglodytes, Canis lupus familiaris, Bos taurus
H197GTVSLHLGVTP1Mus musculus
H197GPVGLHLGVTP1Rattus norvegicus
P540GFCSGPGWDPV6Homo sapiens, Mus musculus, Rattus norvegicus, Pan troglodytes, Canis lupus familiaris, Bos taurus
T546GWDPVTGWGTP6Homo sapiens, Mus musculus, Rattus norvegicus, Pan troglodytes, Canis lupus familiaris, Bos taurus
V518AGLFDVTRGCH4Homo sapiens, Pan troglodytes, Canis lupus familiaris, Bos taurus
V518TGLFDVTHGCH1Mus musculus
V518AGLFDVTHGCH1Rattus norvegicus


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