| Variant ID | 29322 |
|---|---|
| Entrez Gene ID | 154810 |
| Gene | AMOTL1 (GeneCards) |
| Location | hg19 11:94603879-94603879
hg38 11:94870714-94870714 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | PASM |
| Mutation(HGVS format) | NC_000011.9:g.94603879 G>A (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 |
|---|---|
| EIGEN score | 0.4369 |
| CADD Raw score (version 1.3) | 1.576502 (Deleterious) |
| FATHMM raw prediction score | 0.17614 (Tolerated) |
| Deleterious probability by DeFine | 0.8533 (Deleterious) |
| Entrez Gene ID | 154810 (NCBI Gene) |
|---|---|
| Official Gene Symbol | AMOTL1 (GeneCards) |
| Number of variants in AMOTL1 in this database | 2 (view all the variants) |
| Full name | angiomotin like 1 |
| Band | 11q21 |
| Other IDs | Vega: OTTHUMG00000167828 OMIM: 614657 HGNC: HGNC:17811 Ensembl: ENSG00000166025 |
| Other names | JEAP |
| Summary | The protein encoded by this gene is a peripheral membrane protein that is a component of tight junctions or TJs. TJs form an apical junctional structure and act to control paracellular permeability and maintain cell polarity. This protein is related to angiomotin, an angiostatin binding protein that regulates endothelial cell migration and capillary formation. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014] |
| Individual ID | 28503910.199 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28503910 |
| Whose mosaic mutation | Patient |
| Phenotype | 3 |
| 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; |