| Variant ID | 5791 |
|---|---|
| Entrez Gene ID | 57337 |
| Gene | SENP7 (GeneCards) |
| Location | hg19 3:101162080-101162080
hg38 3:101443236-101443236 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000003.11:g.101162080 G>A (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 | 198022430 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.2708 |
| CADD Raw score (version 1.3) | -0.238796 (Deleterious) |
| FATHMM raw prediction score | 0.10551 (Tolerated) |
| Deleterious probability by DeFine | 0.0342 (Neutral) |
| Entrez Gene ID | 57337 (NCBI Gene) |
|---|---|
| Official Gene Symbol | SENP7 (GeneCards) |
| Number of variants in SENP7 in this database | 3 (view all the variants) |
| Full name | SUMO specific peptidase 7 |
| Band | 3q12.3 |
| Other IDs | Vega: OTTHUMG00000149927 OMIM: 612846 HGNC: HGNC:30402 Ensembl: ENSG00000138468 |
| Other names | None |
| Summary | The reversible posttranslational modification of proteins by the addition of small ubiquitin-like SUMO proteins (see SUMO1; MIM 601912) is required for many cellular processes. SUMO-specific proteases, such as SENP7, process SUMO precursors to generate a C-terminal diglycine motif required for the conjugation reaction. They also display isopeptidase activity for deconjugation of SUMO-conjugated substrates (Lima and Reverter, 2008 [PubMed 18799455]).[supplied by OMIM, Jun 2009] |
| Individual ID | 29217584.19 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Female Patient |
| Phenotype | 3 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| OMIM ID | 216400 |
| 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; |