| Variant ID | 5669 |
|---|---|
| Entrez Gene ID | 8320 |
| Gene | EOMES (GeneCards) |
| Location | hg19 3:27847478-27847478
hg38 3:27805987-27805987 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000003.11:g.27847478 G>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 | 198022430 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.1782 |
| CADD Raw score (version 1.3) | -0.169218 (Deleterious) |
| FATHMM raw prediction score | 0.11139 (Tolerated) |
| Deleterious probability by DeFine | 0.2331 (Neutral) |
| Entrez Gene ID | 8320 (NCBI Gene) |
|---|---|
| Official Gene Symbol | EOMES (GeneCards) |
| Number of variants in EOMES in this database | 5 (view all the variants) |
| Full name | eomesodermin |
| Band | 3p24.1 |
| Other IDs | Vega: OTTHUMG00000130570 OMIM: 604615 HGNC: HGNC:3372 Ensembl: ENSG00000163508 |
| Other names | TBR2 |
| Summary | This gene belongs to the TBR1 (T-box brain protein 1) sub-family of T-box genes that share the common DNA-binding T-box domain. The encoded protein is a transcription factor which is crucial for embryonic development of mesoderm and the central nervous system in vertebrates. The protein may also be necessary for the differentiation of effector CD8+ T cells which are involved in defense against viral infections. A similar gene disrupted in mice is shown to be essential during trophoblast development and gastrulation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013] |
| Individual ID | 29217584.16 (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; |