| Variant ID | 1030 |
|---|---|
| Entrez Gene ID | 55075 |
| Gene | UACA (GeneCards) |
| Location | hg19 15:70960280-70960280
hg38 15:70667941-70667941 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000015.9:g.70960280 G>A (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 915 |
| Amino acid changes in protein | Q > * |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 102531392 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 1.0316 |
| CADD Raw score (version 1.3) | 12.226625 (Deleterious) |
| FATHMM raw prediction score | 0.9254 (Tolerated) |
| LRT score | 0.004 (Tolerated) |
| MutationTaster score | 1 (Deleterious) |
| FitCons score | 0.706 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 4.54 |
| PhyloP score based on multiple alignment of 100 vertebrates | 2.78 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0.992 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 16.273 |
| Deleterious probability by DeFine | 0.927 (Deleterious) |
| Entrez Gene ID | 55075 (NCBI Gene) |
|---|---|
| Official Gene Symbol | UACA (GeneCards) |
| Number of variants in UACA in this database | 2 (view all the variants) |
| Full name | uveal autoantigen with coiled-coil domains and ankyrin repeats |
| Band | 15q23 |
| Other IDs | Vega: OTTHUMG00000133363 OMIM: 612516 HGNC: HGNC:15947 Ensembl: ENSG00000137831 |
| Other names | NUCLING |
| Summary | This gene encodes a protein that contains ankyrin repeats and coiled coil domains and likely plays a role in apoptosis. Studies in rodents have implicated the encoded protein in the stimulation of apoptosis and the regulation of mammary gland involution, in which the mammary gland returns to its pre-pregnant state. This protein has also been proposed to negatively regulate apoptosis based on experiments in human cell lines in which the protein was shown to interact with PRKC apoptosis WT1 regulator protein, also known as PAR-4, and inhibit translocation of the PAR-4 receptor. Autoantibodies to this protein have been identified in human patients with panuveitis and Graves' disease. Differential expression of this gene has been observed in various human cancers. [provided by RefSeq, May 2017] |
| 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; |