| Variant ID | 8799 |
|---|---|
| Entrez Gene ID | 81545 |
| Gene | FBXO38 (GeneCards) |
| Location | hg19 5:147774384-147774384
hg38 5:148394821-148394821 |
| Disease | Xeroderma Pigmentosum (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000005.9:g.147774384 T>A (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 | -0.7439 |
| CADD Raw score (version 1.3) | 0.449107 (Deleterious) |
| FATHMM raw prediction score | 0.41711 (Tolerated) |
| SIFT score | 0.508 (Tolerated) |
| LRT score | 0.184 (Tolerated) |
| MutationTaster score | 0.996 (Tolerated) |
| MutatioinAssessor score | -1.1 (Tolerated) |
| PROVEAN score | -0.74 (Tolerated) |
| MetaSVM score | -1.023 (Tolerated) |
| MetaLR score | 0.021 (Tolerated) |
| MCAP score | 0.003 (Tolerated) |
| FitCons score | 0.719 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 1.45 |
| PhyloP score based on multiple alignment of 100 vertebrates | 0.365 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0.926 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 0.208 |
| Deleterious probability by iFish2 | 0.022 (Neutral) |
| Deleterious probability by DeFine | 0.8114 (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 | 29217584.22 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Female Patient |
| Phenotype | 3 |
| Disease | Xeroderma Pigmentosum (view all the variants in this disease) |
| OMIM ID | 278700 |
| 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; |