| Variant ID | 3403 |
|---|---|
| Entrez Gene ID | 11262 |
| Gene | SP140 (GeneCards) |
| Location | hg19 2:231162157-231162157
hg38 2:230297442-230297442 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000002.11:g.231162157 A>G (Genome Assembly: GRCh37) |
| Exon or Intron | NA |
|---|---|
| Position in protein | NA |
| Amino acid changes in protein | NA > NA |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 243199373 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.6369 |
| CADD Raw score (version 1.3) | -0.189752 (Deleterious) |
| FATHMM raw prediction score | 0.02313 (Tolerated) |
| SIFT score | 0.14 (Tolerated) |
| MutationTaster score | 1 (Tolerated) |
| MutatioinAssessor score | 1.69 (Tolerated) |
| PROVEAN score | -2.32 (Tolerated) |
| MetaSVM score | -0.255 (Tolerated) |
| MetaLR score | 0.664 (Deleterious) |
| MCAP score | 0.013 (Tolerated) |
| FitCons score | 0.707 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 0.938 |
| PhyloP score based on multiple alignment of 100 vertebrates | 0.212 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 3.817 |
| Deleterious probability by iFish2 | 0.0091 (Neutral) |
| Deleterious probability by DeFine | 0.3037 (Neutral) |
| Entrez Gene ID | 11262 (NCBI Gene) |
|---|---|
| Official Gene Symbol | SP140 (GeneCards) |
| Number of variants in SP140 in this database | 3 (view all the variants) |
| Full name | SP140 nuclear body protein |
| Band | 2q37.1 |
| Other IDs | Vega: OTTHUMG00000153670 OMIM: 608602 HGNC: HGNC:17133 Ensembl: ENSG00000079263 |
| Other names | LYSP100, LYSP100-A, LYSP100-B |
| Summary | This gene encodes a member of the SP100 family of proteins, which are share common domains including an N-terminal homogeneously staining region domain followed by a SP100/autoimmune regulator/NucP41/P75/deformed epidermal autoregulatory factor domain, a plant homeobox zinc finger, and a bromodomain. The encoded protein is interferon-inducible and is expressed at high levels in the nuclei of leukocytes. Variants of this gene have been associated with multiple sclerosis, Crohn's disease, and chronic lymphocytic leukemia. Alternative splicing results in multiple variants. [provided by RefSeq, Aug 2016] |
| Individual ID | 29217584.09 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |
| Pubmed ID | 29217584 |
|---|---|
| Title | Aging and neurodegeneration are associated with increased mutations in single human neurons. |
| Journal | Science |
| Publication date | 2018.02 |
| Disease | Cockayne syndrome Xeroderma Pigmentosum |
| Number of cases | Male cases: 3; Female cases: 6; cases of unknown sex: 15; |