| Variant ID | 29159 |
|---|---|
| Entrez Gene ID | 4281 |
| Gene | MID1 (GeneCards) |
| Location | hg19 X:10535273-10535273
hg38 X:10567233-10567233 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | PASM |
| Mutation(HGVS format) | NC_000023.10:g.10535273 G>C (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 | 155270560 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| CADD Raw score (version 1.3) | -0.384449 (Deleterious) |
| FATHMM raw prediction score | 0.20873 (Tolerated) |
| Deleterious probability by DeFine | 0.9022 (Deleterious) |
| Entrez Gene ID | 4281 (NCBI Gene) |
|---|---|
| Official Gene Symbol | MID1 (GeneCards) |
| Number of variants in MID1 in this database | 4 (view all the variants) |
| Full name | midline 1 |
| Band | Xp22.2 |
| Other IDs | Vega: OTTHUMG00000021127 OMIM: 300552 HGNC: HGNC:7095 Ensembl: ENSG00000101871 |
| Other names | OS, FXY, OSX, OGS1, XPRF, BBBG1, GBBB1, MIDIN, RNF59, ZNFXY, TRIM18 |
| Summary | The protein encoded by this gene is a member of the tripartite motif (TRIM) family, also known as the 'RING-B box-coiled coil' (RBCC) subgroup of RING finger proteins. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. This protein forms homodimers which associate with microtubules in the cytoplasm. The protein is likely involved in the formation of multiprotein structures acting as anchor points to microtubules. Mutations in this gene have been associated with the X-linked form of Opitz syndrome, which is characterized by midline abnormalities such as cleft lip, laryngeal cleft, heart defects, hypospadias, and agenesis of the corpus callosum. This gene was also the first example of a gene subject to X inactivation in human while escaping it in mouse. Alternative promoter use, alternative splicing and alternative polyadenylation result in multiple transcript variants that have different tissue specificities. [provided by RefSeq, Dec 2016] |
| Individual ID | 28503910.36 (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; |