| Variant ID | 824 |
|---|---|
| Entrez Gene ID | 27445 |
| Gene | PCLO (GeneCards) |
| Location | hg19 7:82764309-82764309
hg38 7:83134993-83134993 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000007.13:g.82764309 C>T (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 853 |
| Amino acid changes in protein | E > K |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 159138663 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| Variant IDs in COSMIC (version 89) | 5873230 |
| Variant occurences in COSMIC | 2(NS) |
| EIGEN score | 0.327 |
| CADD Raw score (version 1.3) | 3.13994 (Deleterious) |
| FATHMM raw prediction score | 0.92749 (Tolerated) |
| SIFT score | 0.008 (Deleterious) |
| MutationTaster score | 0.619 (Deleterious) |
| MutatioinAssessor score | 2.25 (Deleterious) |
| PROVEAN score | -1.43 (Tolerated) |
| MetaSVM score | -1.151 (Tolerated) |
| MetaLR score | 0.049 (Tolerated) |
| MCAP score | 0.006 (Tolerated) |
| FitCons score | 0.554 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5.93 |
| PhyloP score based on multiple alignment of 100 vertebrates | 2.991 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0.997 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 20.344 |
| Deleterious probability by iFish2 | 0.0562 (Neutral) |
| Deleterious probability by DeFine | 0.9111 (Deleterious) |
| Entrez Gene ID | 27445 (NCBI Gene) |
|---|---|
| Official Gene Symbol | PCLO (GeneCards) |
| Number of variants in PCLO in this database | 8 (view all the variants) |
| Full name | piccolo presynaptic cytomatrix protein |
| Band | 7q21.11 |
| Other IDs | Vega: OTTHUMG00000154853 OMIM: 604918 HGNC: HGNC:13406 Ensembl: ENSG00000186472 |
| Other names | ACZ, PCH3 |
| Summary | The protein encoded by this gene is part of the presynaptic cytoskeletal matrix, which is involved in establishing active synaptic zones and in synaptic vesicle trafficking. Variations in this gene have been associated with bipolar disorder and major depressive disorder. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011] |
| 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; |