| Variant ID | 854 |
|---|---|
| Entrez Gene ID | 64651 |
| Gene | CSRNP1 (GeneCards) |
| Location | hg19 3:39186669-39186669
hg38 3:39145178-39145178 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000003.11:g.39186669 G>A (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 95 |
| Amino acid changes in protein | P > L |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 198022430 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.467 |
| CADD Raw score (version 1.3) | 5.636706 (Deleterious) |
| FATHMM raw prediction score | 0.94383 (Tolerated) |
| SIFT score | 0.014 (Deleterious) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 2.85 (Deleterious) |
| PROVEAN score | -4.67 (Deleterious) |
| MetaSVM score | -1.149 (Tolerated) |
| MetaLR score | 0.052 (Tolerated) |
| MCAP score | 0.03 (Deleterious) |
| FitCons score | 0.672 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 4.13 |
| PhyloP score based on multiple alignment of 100 vertebrates | 3.746 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 8.279 |
| Deleterious probability by iFish2 | 0.78 (Deleterious) |
| Deleterious probability by DeFine | 0.9529 (Deleterious) |
| Entrez Gene ID | 64651 (NCBI Gene) |
|---|---|
| Official Gene Symbol | CSRNP1 (GeneCards) |
| Number of variants in CSRNP1 in this database | 4 (view all the variants) |
| Full name | cysteine and serine rich nuclear protein 1 |
| Band | 3p22.2 |
| Other IDs | Vega: OTTHUMG00000131293 OMIM: 606458 HGNC: HGNC:14300 Ensembl: ENSG00000144655 |
| Other names | AXUD1, URAX1, TAIP-3, CSRNP-1, FAM130B |
| Summary | This gene encodes a protein that localizes to the nucleus and expression of this gene is induced in response to elevated levels of axin. The Wnt signalling pathway, which is negatively regulated by axin, is important in axis formation in early development and impaired regulation of this signalling pathway is often involved in tumors. A decreased level of expression of this gene in tumors compared to the level of expression in their corresponding normal tissues suggests that this gene product has a tumor suppressor function. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016] |
| Individual ID | 27788131.01 (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; |