| Variant ID | 29139 |
|---|---|
| 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 | PASM |
| Mutation(HGVS format) | NC_000011.9:g.8122426 C>T (Genome Assembly: GRCh37) |
| 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 | NA |
| mRNA length | NA |
| Reference length | 135006516 |
| MAF in gnomAD genome (version 2.0.1) | 0.00006467 |
|---|---|
| SNP ID (dbSNP ID version 137) | rs61733059 |
| Variant IDs in COSMIC (version 89) | 932476 |
| Variant occurences in COSMIC | 1(endometrium) |
| EIGEN score | 0.8032 |
| CADD Raw score (version 1.3) | 2.759097 (Deleterious) |
| FATHMM raw prediction score | 0.83077 (Tolerated) |
| Deleterious probability by DeFine | 0.8055 (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 | 28503910.16 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28503910 |
| Whose mosaic mutation | Normal |
| Phenotype | 2 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| OMIM ID | 209850 |
| Pubmed ID | 28503910 |
|---|---|
| Title | Postzygotic single-nucleotide mosaicisms contribute to the etiology of autism spectrum disorder and autistic traits and the origin of mutations |
| Journal | Human Mutation |
| Publication date | 2017.05 |
| Disease | Autism Spectrum Disorders |
| Incidence | 0.01 |
| Number of cases | cases of unknown sex: 215; |