| Variant ID | 1026 |
|---|---|
| Entrez Gene ID | 55030 |
| Gene | FBXO34 (GeneCards) |
| Location | hg19 14:55818567-55818567
hg38 14:55351849-55351849 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000014.8:g.55818567 C>T (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 487 |
| Amino acid changes in protein | P > S |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 107349540 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.8811 |
| CADD Raw score (version 1.3) | 0.131213 (Deleterious) |
| FATHMM raw prediction score | 0.15492 (Tolerated) |
| SIFT score | 0.704 (Tolerated) |
| LRT score | 0.597 (Tolerated) |
| MutationTaster score | 1 (Tolerated) |
| MutatioinAssessor score | 0.68 (Tolerated) |
| PROVEAN score | -0.71 (Tolerated) |
| MetaSVM score | -0.948 (Tolerated) |
| MetaLR score | 0.016 (Tolerated) |
| MCAP score | 0.003 (Tolerated) |
| FitCons score | 0.707 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 1.44 |
| PhyloP score based on multiple alignment of 100 vertebrates | -0.374 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 1.925 |
| Deleterious probability by iFish2 | 0.0586 (Neutral) |
| Deleterious probability by DeFine | 0.8145 (Deleterious) |
| Entrez Gene ID | 55030 (NCBI Gene) |
|---|---|
| Official Gene Symbol | FBXO34 (GeneCards) |
| Number of variants in FBXO34 in this database | 1 (view all the variants) |
| Full name | F-box protein 34 |
| Band | 14q22.3 |
| Other IDs | Vega: OTTHUMG00000171033 OMIM: 609104 HGNC: HGNC:20201 Ensembl: ENSG00000178974 |
| Other names | Fbx34, CGI-301 |
| Summary | Members of the F-box protein family, such as FBXO34, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008] |
| Individual ID | 27788131.02 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 27788131 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| OMIM ID | 120353 |
| Pubmed ID | 27788131 |
|---|---|
| Title | The Impact of Environmental and Endogenous Damage on Somatic Mutation Load in Human Skin Fibroblasts. |
| Journal | PLoS Genetics |
| Publication date | 2016.10 |
| Disease | Human Skin Fibroblasts |
| Population | Caucasian |
| Number of cases | Male cases: 2; |