| Variant ID | 1572 |
|---|---|
| Entrez Gene ID | 7275 |
| Gene | TUB (GeneCards) |
| Location | hg19 11:8122426-8122426
hg38 11:8100879-8100879 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | NextSeq500 v2 |
| Mutation(HGVS format) | NC_000011.9:g.8122426_8122426 del (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | NA |
| Amino acid changes in protein | NA > NA |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NM_177972.2 |
| mRNA length | 6175 |
| Reference length | 135006516 |
| Deleterious probability by DeFine | 0.9286 (Deleterious) |
|---|
| Entrez Gene ID | 7275 (NCBI Gene) |
|---|---|
| Official Gene Symbol | TUB (GeneCards) |
| Number of variants in TUB in this database | 2 (view all the variants) |
| Full name | tubby bipartite transcription factor |
| Band | 11p15.4 |
| Other IDs | Vega: OTTHUMG00000165690 OMIM: 601197 HGNC: HGNC:12406 Ensembl: ENSG00000166402 |
| Other names | rd5, RDOB |
| Summary | This gene encodes a member of the Tubby family of bipartite transcription factors. The encoded protein may play a role in obesity and sensorineural degradation. The crystal structure has been determined for a similar protein in mouse, and it functions as a membrane-bound transcription regulator that translocates to the nucleus in response to phosphoinositide hydrolysis. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008] |
| Individual ID | 28867142.29 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28867142 |
| Whose mosaic mutation | Male Patient |
| Origin of mosaic mutation in patients | de novo |
| Phenotype | 3 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| OMIM ID | 209850 |
| Pubmed ID | 28867142 |
|---|---|
| Title | Exonic Mosaic Mutations Contribute Risk for Autism Spectrum Disorder |
| Journal | American Journal of Human Genetics |
| Publication date | 2017.08 |
| Disease | Autism Spectrum Disorders |
| Incidence | 0.01 |
| Number of cases | cases of unknown sex: 247; |