| Variant ID | 901 |
|---|---|
| Entrez Gene ID | 6929 |
| Gene | TCF3 (GeneCards) |
| Location | hg19 19:1622131-1622131
hg38 19:1622132-1622132 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000019.9:g.1622131 G>A (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 248 |
| Amino acid changes in protein | P > P |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 59128983 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 1.3736 |
| CADD Raw score (version 1.3) | 0.216173 (Deleterious) |
| FATHMM raw prediction score | 0.84797 (Tolerated) |
| Deleterious probability by DeFine | 0.8711 (Deleterious) |
| Entrez Gene ID | 6929 (NCBI Gene) |
|---|---|
| Official Gene Symbol | TCF3 (GeneCards) |
| Number of variants in TCF3 in this database | 11 (view all the variants) |
| Full name | transcription factor 3 |
| Band | 19p13.3 |
| Other IDs | Vega: OTTHUMG00000180031 OMIM: 147141 HGNC: HGNC:11633 Ensembl: ENSG00000071564 |
| Other names | E2A, E47, p75, AGM8, ITF1, VDIR, TCF-3, bHLHb21 |
| Summary | This gene encodes a member of the E protein (class I) family of helix-loop-helix transcription factors. E proteins activate transcription by binding to regulatory E-box sequences on target genes as heterodimers or homodimers, and are inhibited by heterodimerization with inhibitor of DNA-binding (class IV) helix-loop-helix proteins. E proteins play a critical role in lymphopoiesis, and the encoded protein is required for B and T lymphocyte development. Deletion of this gene or diminished activity of the encoded protein may play a role in lymphoid malignancies. This gene is also involved in several chromosomal translocations that are associated with lymphoid malignancies including pre-B-cell acute lymphoblastic leukemia (t(1;19), with PBX1), childhood leukemia (t(19;19), with TFPT) and acute leukemia (t(12;19), with ZNF384). Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the short arm of chromosome 9. [provided by RefSeq, Sep 2011] |
| Individual ID | 27788131.02 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 27788131 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| OMIM ID | 120353 |
| Pubmed ID | 27788131 |
|---|---|
| Title | The Impact of Environmental and Endogenous Damage on Somatic Mutation Load in Human Skin Fibroblasts. |
| Journal | PLoS Genetics |
| Publication date | 2016.10 |
| Disease | Human Skin Fibroblasts |
| Population | Caucasian |
| Number of cases | Male cases: 2; |