| Variant ID | 912 |
|---|---|
| Entrez Gene ID | 89796 |
| Gene | NAV1 (GeneCards) |
| Location | hg19 1:201777907-201777907
hg38 1:201808779-201808779 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000001.10:g.201777907 G>A (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 1372 |
| Amino acid changes in protein | G > E |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 249250621 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.2423 |
| CADD Raw score (version 1.3) | 4.46551 (Deleterious) |
| FATHMM raw prediction score | 0.99396 (Tolerated) |
| SIFT score | 0.224 (Tolerated) |
| LRT score | 0.007 (Tolerated) |
| MutationTaster score | 0.985 (Deleterious) |
| MutatioinAssessor score | 0.895 (Tolerated) |
| PROVEAN score | -1.22 (Tolerated) |
| MetaSVM score | -1.037 (Tolerated) |
| MetaLR score | 0.02 (Tolerated) |
| MCAP score | 0.024 (Tolerated) |
| FitCons score | 0.707 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5.65 |
| PhyloP score based on multiple alignment of 100 vertebrates | 5.665 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 19.331 |
| Deleterious probability by iFish2 | 0.5148 (Deleterious) |
| Deleterious probability by DeFine | 0.9745 (Deleterious) |
| Entrez Gene ID | 89796 (NCBI Gene) |
|---|---|
| Official Gene Symbol | NAV1 (GeneCards) |
| Number of variants in NAV1 in this database | 3 (view all the variants) |
| Full name | neuron navigator 1 |
| Band | 1q32.1 |
| Other IDs | Vega: OTTHUMG00000035766 OMIM: 611628 HGNC: HGNC:15989 Ensembl: ENSG00000134369 |
| Other names | POMFIL3, UNC53H1, STEERIN1 |
| Summary | This gene belongs to the neuron navigator family and is expressed predominantly in the nervous system. The encoded protein contains coiled-coil domains and a conserved AAA domain characteristic for ATPases associated with a variety of cellular activities. This gene is similar to unc-53, a Caenorhabditis elegans gene involved in axon guidance. The exact function of this gene is not known, but it is thought to play a role in in neuronal development and regeneration. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2009] |
| 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; |