| Variant ID | 19239 |
|---|---|
| Entrez Gene ID | 7082 |
| Gene | TJP1 (GeneCards) |
| Location | hg19 15:30218845-30218845
hg38 15:29926642-29926642 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000015.9:g.30218845 C>T (Genome Assembly: GRCh37) |
| Exon or Intron | NA |
|---|---|
| Position in protein | NA |
| Amino acid changes in protein | NA > NA |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 102531392 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.1776 |
| CADD Raw score (version 1.3) | 0.115507 (Deleterious) |
| FATHMM raw prediction score | 0.08942 (Tolerated) |
| Deleterious probability by DeFine | 0.1845 (Neutral) |
| Entrez Gene ID | 7082 (NCBI Gene) |
|---|---|
| Official Gene Symbol | TJP1 (GeneCards) |
| Number of variants in TJP1 in this database | 3 (view all the variants) |
| Full name | tight junction protein 1 |
| Band | 15q13.1 |
| Other IDs | Vega: OTTHUMG00000137397 OMIM: 601009 HGNC: HGNC:11827 Ensembl: ENSG00000104067 |
| Other names | ZO-1 |
| Summary | This gene encodes a member of the membrane-associated guanylate kinase (MAGUK) family of proteins, and acts as a tight junction adaptor protein that also regulates adherens junctions. Tight junctions regulate the movement of ions and macromolecules between endothelial and epithelial cells. The multidomain structure of this scaffold protein, including a postsynaptic density 95/disc-large/zona occludens (PDZ) domain, a Src homology (SH3) domain, a guanylate kinase (GuK) domain and unique (U) motifs all help to co-ordinate binding of transmembrane proteins, cytosolic proteins, and F-actin, which are required for tight junction function. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2017] |
| Individual ID | 29217584.19 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Female Patient |
| Phenotype | 3 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| OMIM ID | 216400 |
| Pubmed ID | 29217584 |
|---|---|
| Title | Aging and neurodegeneration are associated with increased mutations in single human neurons. |
| Journal | Science |
| Publication date | 2018.02 |
| Disease | Cockayne syndrome Xeroderma Pigmentosum |
| Number of cases | Male cases: 3; Female cases: 6; cases of unknown sex: 15; |