| Variant ID | 11867 |
|---|---|
| Entrez Gene ID | 7227 |
| Gene | TRPS1 (GeneCards) |
| Location | hg19 8:116909000-116909000
hg38 8:115896775-115896775 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000008.10:g.116909000 T>C (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 | 146364022 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.4152 |
| CADD Raw score (version 1.3) | -0.561015 (Deleterious) |
| FATHMM raw prediction score | 0.26702 (Tolerated) |
| Deleterious probability by DeFine | 0.7148 (Deleterious) |
| Entrez Gene ID | 7227 (NCBI Gene) |
|---|---|
| Official Gene Symbol | TRPS1 (GeneCards) |
| Number of variants in TRPS1 in this database | 8 (view all the variants) |
| Full name | transcriptional repressor GATA binding 1 |
| Band | 8q23.3 |
| Other IDs | Vega: OTTHUMG00000142829 OMIM: 604386 HGNC: HGNC:12340 Ensembl: ENSG00000104447 |
| Other names | GC79, LGCR |
| Summary | This gene encodes a transcription factor that represses GATA-regulated genes and binds to a dynein light chain protein. Binding of the encoded protein to the dynein light chain protein affects binding to GATA consensus sequences and suppresses its transcriptional activity. Defects in this gene are a cause of tricho-rhino-phalangeal syndrome (TRPS) types I-III. [provided by RefSeq, Jul 2008] |
| Individual ID | 29217584.07 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |
| 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; |