| Variant ID | 29767 |
|---|---|
| Entrez Gene ID | 90268 |
| Gene | OTULIN (GeneCards) |
| Location | hg19 5:14693136-14693136
hg38 5:14693027-14693027 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | NextSeq500 |
| Mutation(HGVS format) | NC_000005.9:g.14693136 G>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 | 180915260 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.0518 |
| CADD Raw score (version 1.3) | 1.207324 (Deleterious) |
| FATHMM raw prediction score | 0.97129 (Tolerated) |
| Deleterious probability by DeFine | 0.8818 (Deleterious) |
| Entrez Gene ID | 90268 (NCBI Gene) |
|---|---|
| Official Gene Symbol | OTULIN (GeneCards) |
| Number of variants in OTULIN in this database | 1 (view all the variants) |
| Full name | OTU deubiquitinase with linear linkage specificity |
| Band | 5p15.2 |
| Other IDs | Vega: OTTHUMG00000161762 OMIM: 615712 HGNC: HGNC:25118 Ensembl: ENSG00000154124 |
| Other names | GUM, AIPDS, FAM105B |
| Summary | This gene encodes a member of the peptidase C65 family of ubiquitin isopeptidases. Members of this family remove ubiquitin from proteins. The encoded enzyme specifically recognizes and removes M1(Met1)-linked, or linear, ubiquitin chains from protein substrates. Linear ubiquitin chains are known to regulate the NF-kappa B signaling pathway in the context of immunity and inflammation. Mutations in this gene cause a potentially fatal autoinflammatory syndrome in human patients. [provided by RefSeq, Sep 2016] |
| Individual ID | 28867142.34 (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; |