| Variant ID | 1069 |
|---|---|
| Entrez Gene ID | 90853 |
| Gene | SPOCD1 (GeneCards) |
| Location | hg19 1:32264102-32264102
hg38 1:31798501-31798501 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000001.10:g.32264102 C>T (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 657 |
| Amino acid changes in protein | G > S |
| 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 | -0.7473 |
| CADD Raw score (version 1.3) | 0.968532 (Deleterious) |
| FATHMM raw prediction score | 0.01645 (Tolerated) |
| SIFT score | 0.547 (Tolerated) |
| MutationTaster score | 1 (Tolerated) |
| MutatioinAssessor score | 0.89 (Tolerated) |
| PROVEAN score | -0.11 (Tolerated) |
| MetaSVM score | -1.002 (Tolerated) |
| MetaLR score | 0.059 (Tolerated) |
| MCAP score | 0.013 (Tolerated) |
| FitCons score | 0.733 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | -1.95 |
| PhyloP score based on multiple alignment of 100 vertebrates | -0.825 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 1.232 |
| Deleterious probability by iFish2 | 0.0015 (Neutral) |
| Deleterious probability by DeFine | 0.9203 (Deleterious) |
| Entrez Gene ID | 90853 (NCBI Gene) |
|---|---|
| Official Gene Symbol | SPOCD1 (GeneCards) |
| Number of variants in SPOCD1 in this database | 4 (view all the variants) |
| Full name | SPOC domain containing 1 |
| Band | 1p35.2 |
| Other IDs | Vega: OTTHUMG00000003879 HGNC: HGNC:26338 Ensembl: ENSG00000134668 |
| Other names | PPP1R146 |
| Summary | This gene encodes a protein that belongs to the TFIIS family of transcription factors. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013] |
| 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; |