| Variant ID | 1012 |
|---|---|
| Entrez Gene ID | 23185 |
| Gene | LARP4B (GeneCards) |
| Location | hg19 10:876877-876877
hg38 10:830937-830937 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000010.10:g.876877 A>C (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 264 |
| Amino acid changes in protein | F > C |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 135534747 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.7709 |
| CADD Raw score (version 1.3) | 6.097326 (Deleterious) |
| FATHMM raw prediction score | 0.99138 (Tolerated) |
| SIFT score | 0.012 (Deleterious) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 2.28 (Deleterious) |
| PROVEAN score | -3.25 (Deleterious) |
| MetaSVM score | -0.679 (Tolerated) |
| MetaLR score | 0.218 (Tolerated) |
| MCAP score | 0.024 (Tolerated) |
| FitCons score | 0.732 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 4.94 |
| PhyloP score based on multiple alignment of 100 vertebrates | 9.181 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 14.896 |
| Deleterious probability by iFish2 | 0.9685 (Deleterious) |
| Deleterious probability by DeFine | 0.9242 (Deleterious) |
| Entrez Gene ID | 23185 (NCBI Gene) |
|---|---|
| Official Gene Symbol | LARP4B (GeneCards) |
| Number of variants in LARP4B in this database | 6 (view all the variants) |
| Full name | La ribonucleoprotein domain family member 4B |
| Band | 10p15.3 |
| Other IDs | Vega: OTTHUMG00000017534 OMIM: 616513 HGNC: HGNC:28987 Ensembl: ENSG00000107929 |
| Other names | LARP5, KIAA0217 |
| Summary | This gene encodes a member of an evolutionarily conserved protein family implicated in RNA metabolism and translation. Members of this family are characterized by the presence of an La motif, which is often located adjacent to one or more RNA recognition motifs (RRM). Together, the two motifs constitute the functional region of the protein and enable its interaction with the RNA substrate. This protein family is divided into five sub-families: the genuine La proteins and four La-related protein (LARP) sub-families. The protein encoded by this gene belongs to LARP sub-family 4. It is a cytoplasmic protein that may play a stimulatory role in translation. [provided by RefSeq, Oct 2012] |
| 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; |