| Variant ID | 4678 |
|---|---|
| Entrez Gene ID | 27086 |
| Gene | FOXP1 (GeneCards) |
| Location | hg19 3:71336229-71336229
hg38 3:71287078-71287078 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000003.11:g.71336229 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 | 198022430 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.1571 |
| CADD Raw score (version 1.3) | 0.805464 (Deleterious) |
| FATHMM raw prediction score | 0.1176 (Tolerated) |
| Deleterious probability by DeFine | 0.4814 (Neutral) |
| Entrez Gene ID | 27086 (NCBI Gene) |
|---|---|
| Official Gene Symbol | FOXP1 (GeneCards) |
| Number of variants in FOXP1 in this database | 6 (view all the variants) |
| Full name | forkhead box P1 |
| Band | 3p13 |
| Other IDs | Vega: OTTHUMG00000158803 OMIM: 605515 HGNC: HGNC:3823 Ensembl: ENSG00000114861 |
| Other names | MFH, QRF1, 12CC4, hFKH1B, HSPC215 |
| Summary | This gene belongs to subfamily P of the forkhead box (FOX) transcription factor family. Forkhead box transcription factors play important roles in the regulation of tissue- and cell type-specific gene transcription during both development and adulthood. Forkhead box P1 protein contains both DNA-binding- and protein-protein binding-domains. This gene may act as a tumor suppressor as it is lost in several tumor types and maps to a chromosomal region (3p14.1) reported to contain a tumor suppressor gene(s). Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] |
| Individual ID | 29217584.03 (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; |