| Variant ID | 21477 |
|---|---|
| Entrez Gene ID | 56255 |
| Gene | TMX4 (GeneCards) |
| Location | hg19 20:8096823-8096823
hg38 20:8116176-8116176 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000020.10:g.8096823 C>A (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 | 63025520 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.7022 |
| CADD Raw score (version 1.3) | 0.716832 (Deleterious) |
| FATHMM raw prediction score | 0.30175 (Tolerated) |
| Deleterious probability by DeFine | 0.8592 (Deleterious) |
| Entrez Gene ID | 56255 (NCBI Gene) |
|---|---|
| Official Gene Symbol | TMX4 (GeneCards) |
| Number of variants in TMX4 in this database | 3 (view all the variants) |
| Full name | thioredoxin related transmembrane protein 4 |
| Band | 20p12.3 |
| Other IDs | Vega: OTTHUMG00000031843 OMIM: 616766 HGNC: HGNC:25237 Ensembl: ENSG00000125827 |
| Other names | PDIA14, TXNDC13, DJ971N18.2 |
| Summary | This gene encodes a member of the disulfide isomerase (PDI) family of endoplasmic reticulum (ER) proteins that catalyze protein folding and thiol-disulfide interchange reactions. The encoded protein has an N-terminal ER-signal sequence, a catalytically active thioredoxin domain, one transmembrane domain and C-terminal ASP/GLU-rich calcium binding domain. Unlike most members of this gene family, it lacks a C-terminal ER-retention sequence. The encoded protein has been shown to have reductase activity in vitro. [provided by RefSeq, Jan 2017] |
| Individual ID | 29217584.17 (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; |