| Variant ID | 29361 |
|---|---|
| Entrez Gene ID | 9810 |
| Gene | RNF40 (GeneCards) |
| Location | hg19 16:30774543-30774543
hg38 16:30763222-30763222 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000016.9:g.30774543 G>A (Genome Assembly: hg19) |
| 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 | 90354753 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 1.4161 |
| CADD Raw score (version 1.3) | 1.125542 (Deleterious) |
| FATHMM raw prediction score | 0.95796 (Tolerated) |
| Deleterious probability by DeFine | 0.9603 (Deleterious) |
| Entrez Gene ID | 9810 (NCBI Gene) |
|---|---|
| Official Gene Symbol | RNF40 (GeneCards) |
| Number of variants in RNF40 in this database | 2 (view all the variants) |
| Full name | ring finger protein 40 |
| Band | 16p11.2 |
| Other IDs | Vega: OTTHUMG00000132394 OMIM: 607700 HGNC: HGNC:16867 Ensembl: ENSG00000103549 |
| Other names | BRE1B, RBP95, STARING |
| Summary | The protein encoded by this gene contains a RING finger, a motif known to be involved in protein-protein and protein-DNA interactions. This protein was reported to interact with the tumor suppressor protein RB1. Studies of the rat counterpart suggested that this protein may function as an E3 ubiquitin-protein ligase, and facilitate the ubiquitination and degradation of syntaxin 1, which is an essential component of the neurotransmitter release machinery. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2011] |
| Individual ID | 28714951.37 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28714951 |
| Whose mosaic mutation | Patient |
| Phenotype | 3 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| OMIM ID | 209850 |
| Pubmed ID | 28714951 |
|---|---|
| Title | Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder |
| Journal | Nat Neurosci |
| Publication date | 2017.07 |
| Disease | Autism Spectrum Disorders |
| Incidence | 0.01 |
| Number of cases | cases of unknown sex: 376; |