| Variant ID | 7716 |
|---|---|
| Entrez Gene ID | 81545 |
| Gene | FBXO38 (GeneCards) |
| Location | hg19 5:147794745-147794745
hg38 5:148415182-148415182 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000005.9:g.147794745 A>G (Genome Assembly: GRCh37) |
| 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 | 180915260 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 1.2585 |
| CADD Raw score (version 1.3) | 1.855325 (Deleterious) |
| FATHMM raw prediction score | 0.96277 (Tolerated) |
| Deleterious probability by DeFine | 0.7724 (Deleterious) |
| Entrez Gene ID | 81545 (NCBI Gene) |
|---|---|
| Official Gene Symbol | FBXO38 (GeneCards) |
| Number of variants in FBXO38 in this database | 3 (view all the variants) |
| Full name | F-box protein 38 |
| Band | 5q32 |
| Other IDs | Vega: OTTHUMG00000129929 OMIM: 608533 HGNC: HGNC:28844 Ensembl: ENSG00000145868 |
| Other names | MOKA, Fbx38, HMN2D, SP329 |
| Summary | This gene encodes a large protein that contains an F-box domain and may participate in protein ubiquitination. The encoded protein is a transcriptional co-activator of Krueppel-like factor 7 (Klf7). A heterozygous mutation in this gene was found in individuals with autosomal dominant distal hereditary motor neuronopathy type IID. There is a pseudogene for this gene on chromosome 4. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013] |
| Individual ID | 29217584.06 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |
| Pubmed ID | 29217584 |
|---|---|
| Title | Aging and neurodegeneration are associated with increased mutations in single human neurons. |
| Journal | Science |
| Publication date | 2018.02 |
| Disease | Cockayne syndrome Xeroderma Pigmentosum |
| Number of cases | Male cases: 3; Female cases: 6; cases of unknown sex: 15; |