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mutLBSgeneDB |
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| Gene summary for TJP1 |
 Gene summary |
| Basic gene Info. | Gene symbol | TJP1 |
| Gene name | tight junction protein 1 | |
| Synonyms | ZO-1 | |
| Cytomap | UCSC genome browser: 15q13 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001301025.1, NM_001301026.1,NM_003257.4,NM_175610.3, | |
| Description | tight junction protein ZO-1zona occludens 1zonula occludens 1 protein | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 601009 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000104067 | ||
| HPRD : 03002 | ||
| Vega : OTTHUMG00000137397 | ||
| Protein | UniProt: Q07157 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_TJP1 | |
| BioGPS: 7082 | ||
| Pathway | NCI Pathway Interaction Database: TJP1 | |
| KEGG: TJP1 | ||
| REACTOME: TJP1 | ||
| Pathway Commons: TJP1 | ||
| Context | iHOP: TJP1 | |
| ligand binding site mutation search in PubMed: TJP1 | ||
| UCL Cancer Institute: TJP1 | ||
| 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 TJP1 |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | V484 | A483V | COAD | 1 | L242 | S241A | COAD | 1 | N239 | M240I | COAD | 1 | K209 | E210A | COAD | 1 | V450 | V450I | COAD | 1 | D514 | D514H | KIRC | 1 | I249 | R251M | LUAD | 1 | L554,L558 | S556F | SKCM | 1 | L256 | G254C | UCEC | 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 TJP1 |
| 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 |
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| 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 | I249 | R251M | -1.2574563 | L242 | S241A | -1.149576 | D514 | D514H | -0.9851372 | V450 | V450I | -0.92439598 | K209 | E210A | -0.69295144 | N239 | M240I | -0.47196353 | L554 | S556F | -0.24733621 | L558 | S556F | -0.24733621 | L256 | G254C | -0.22915134 | V484 | A483V | -0.18535439 |
| (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 TJP1 from PDB |
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| Differential gene expression and gene-gene network for TJP1 |
| 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) |
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| Phenotype information for TJP1 |
| 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 TJP1 |
| 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. |
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| Drug information targeting mutLBSgene (Approved drugs only) |
| Drug status | DrugBank ID | Name | Type | Drug structure |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of TJP1 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | III | Peptide ligand (ARG,PRO,ARG,PRO,ASP,ASP,LEU,GLU,ILE) | 3cyy | A | K209 L242 I249 L256 | III | Peptide ligand (ARG,PRO,ARG,PRO,ASP,ASP,LEU,GLU,ILE) | 3cyy | B | K209 L242 I249 L256 | III | Peptide ligand (ARG,PRO,ARG,PRO,ASP,ASP,LEU,GLU,ILE) | 3cyy | A | N239 | III | Peptide ligand (ARG,PRO,ARG,PRO,ASP,ASP,LEU,GLU,ILE) | 3cyy | B | N239 | III | Peptide ligand (GLY,LYS,THR,SER,VAL,TRP,ILE) | 3shw | A | V450 | III | Peptide ligand (GLU,PHE,LYS,GLN,THR,SER,SER,PHE,LEU,VAL) | 3tsz | A | V484 D514 L554 L558 |
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| Conservation information for LBS of TJP1 |
| Multiple alignments for Q07157 in multiple species |
| LBS | AA sequence | # species | Species | A438 | VGLRLAGGNDV | 3 | Homo sapiens, Mus musculus, Canis lupus familiaris | A448 | VGIFVAGVLED | 3 | Homo sapiens, Mus musculus, Canis lupus familiaris | D514 | RIVESDVGDSF | 3 | Homo sapiens, Mus musculus, Canis lupus familiaris | D547 | VFRVVDTLYNG | 3 | Homo sapiens, Mus musculus, Canis lupus familiaris | E197 | SRKNEEYGLRL | 3 | Homo sapiens, Mus musculus, Canis lupus familiaris | E238 | NGTVTENMSLT | 3 | Homo sapiens, Mus musculus, Canis lupus familiaris | G199 | KNEEYGLRLAS | 3 | Homo sapiens, Mus musculus, Canis lupus familiaris | G439 | GLRLAGGNDVG | 3 | Homo sapiens, Mus musculus, Canis lupus familiaris | G552 | DTLYNGKLGSW | 3 | Homo sapiens, Mus musculus, Canis lupus familiaris | I249 | DAKTLIERSKG | 3 | Homo sapiens, Mus musculus, Canis lupus familiaris | K209 | SHIFVKEISQD | 3 | Homo sapiens, Mus musculus, Canis lupus familiaris | K246 | SLTDAKTLIER | 3 | Homo sapiens, Mus musculus, Canis lupus familiaris | K553 | TLYNGKLGSWL | 3 | Homo sapiens, Mus musculus, Canis lupus familiaris | L200 | NEEYGLRLASH | 3 | Homo sapiens, Mus musculus, Canis lupus familiaris | L202 | EYGLRLASHIF | 3 | Homo sapiens, Mus musculus, Canis lupus familiaris | L242 | TENMSLTDAKT | 3 | Homo sapiens, Mus musculus, Canis lupus familiaris | L256 | RSKGKLKMVVQ | 3 | Homo sapiens, Mus musculus, Canis lupus familiaris | L435 | GDSVGLRLAGG | 3 | Homo sapiens, Mus musculus, Canis lupus familiaris | L437 | SVGLRLAGGND | 3 | Homo sapiens, Mus musculus, Canis lupus familiaris | L451 | FVAGVLEDSPA | 3 | Homo sapiens, Mus musculus, Canis lupus familiaris | L487 | EAVLFLLDLPK | 3 | Homo sapiens, Mus musculus, Canis lupus familiaris | L488 | AVLFLLDLPKG | 3 | Homo sapiens, Mus musculus, Canis lupus familiaris | L549 | RVVDTLYNGKL | 3 | Homo sapiens, Mus musculus, Canis lupus familiaris | L554 | LYNGKLGSWLA | 3 | Homo sapiens, Mus musculus, Canis lupus familiaris | L558 | KLGSWLAIRIG | 3 | Homo sapiens, Mus musculus, Canis lupus familiaris | N239 | GTVTENMSLTD | 3 | Homo sapiens, Mus musculus, Canis lupus familiaris | N551 | VDTLYNGKLGS | 3 | Homo sapiens, Mus musculus, Canis lupus familiaris | R201 | EEYGLRLASHI | 3 | Homo sapiens, Mus musculus, Canis lupus familiaris | R436 | DSVGLRLAGGN | 3 | Homo sapiens, Mus musculus, Canis lupus familiaris | R480 | FTNIIREEAVL | 3 | Homo sapiens, Mus musculus, Canis lupus familiaris | R571 | HKEVERGIIPN | 3 | Homo sapiens, Mus musculus, Canis lupus familiaris | S432 | FRKGDSVGLRL | 3 | Homo sapiens, Mus musculus, Canis lupus familiaris | V236 | KINGTVTENMS | 3 | Homo sapiens, Mus musculus, Canis lupus familiaris | V433 | RKGDSVGLRLA | 3 | Homo sapiens, Mus musculus, Canis lupus familiaris | V450 | IFVAGVLEDSP | 3 | Homo sapiens, Mus musculus, Canis lupus familiaris | V484 | IREEAVLFLLD | 3 | Homo sapiens, Mus musculus, Canis lupus familiaris | V515 | IVESDVGDSFY | 3 | Homo sapiens, Mus musculus, Canis lupus familiaris | Y198 | RKNEEYGLRLA | 3 | Homo sapiens, Mus musculus, Canis lupus familiaris | Y550 | VVDTLYNGKLG | 3 | Homo sapiens, Mus musculus, Canis lupus familiaris |
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