| Variant ID | 29746 |
|---|---|
| Entrez Gene ID | 4134 |
| Gene | MAP4 (GeneCards) |
| Location | hg19 3:47918907-47918907
hg38 3:47877417-47877417 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | NextSeq500 |
| Mutation(HGVS format) | NC_000003.11:g.47918907 C>T (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 | NA |
| mRNA length | NA |
| Reference length | 198022430 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 1.1567 |
| CADD Raw score (version 1.3) | 2.509286 (Deleterious) |
| FATHMM raw prediction score | 0.95907 (Tolerated) |
| Deleterious probability by DeFine | 0.9588 (Deleterious) |
| Entrez Gene ID | 4134 (NCBI Gene) |
|---|---|
| Official Gene Symbol | MAP4 (GeneCards) |
| Number of variants in MAP4 in this database | 5 (view all the variants) |
| Full name | microtubule associated protein 4 |
| Band | 3p21.31 |
| Other IDs | Vega: OTTHUMG00000156828 OMIM: 157132 HGNC: HGNC:6862 Ensembl: ENSG00000047849 |
| Other names | None |
| Summary | The protein encoded by this gene is a major non-neuronal microtubule-associated protein. This protein contains a domain similar to the microtubule-binding domains of neuronal microtubule-associated protein (MAP2) and microtubule-associated protein tau (MAPT/TAU). This protein promotes microtubule assembly, and has been shown to counteract destabilization of interphase microtubule catastrophe promotion. Cyclin B was found to interact with this protein, which targets cell division cycle 2 (CDC2) kinase to microtubules. The phosphorylation of this protein affects microtubule properties and cell cycle progression. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008] |
| Individual ID | 28867142.30 (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; |