| Variant ID | 19319 |
|---|---|
| Entrez Gene ID | 140460 |
| Gene | ASB7 (GeneCards) |
| Location | hg19 15:101226200-101226200
hg38 15:100685995-100685995 |
| Disease | Xeroderma Pigmentosum (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000015.9:g.101226200 T>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 | 102531392 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.1568 |
| CADD Raw score (version 1.3) | 0.013778 (Deleterious) |
| FATHMM raw prediction score | 0.12415 (Tolerated) |
| Deleterious probability by DeFine | 0.4221 (Neutral) |
| Entrez Gene ID | 140460 (NCBI Gene) |
|---|---|
| Official Gene Symbol | ASB7 (GeneCards) |
| Number of variants in ASB7 in this database | 3 (view all the variants) |
| Full name | ankyrin repeat and SOCS box containing 7 |
| Band | 15q26.3 |
| Other IDs | Vega: OTTHUMG00000149868 OMIM: 615052 HGNC: HGNC:17182 Ensembl: ENSG00000183475 |
| Other names | None |
| Summary | The protein encoded by this gene belongs to a family of ankyrin repeat proteins that, along with four other protein families, contains a C-terminal SOCS box motif. Growing evidence suggests that the SOCS box acts as a bridge between specific substrate-binding domains and the more generic proteins that comprise a large family of E3 ubiquitin protein ligases. In this way, SOCS box containing proteins may regulate protein turnover by targeting proteins for polyubiquination and, therefore, for proteasome-mediated degradation. Two alternative transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008] |
| Individual ID | 29217584.23 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Female Patient |
| Phenotype | 3 |
| Disease | Xeroderma Pigmentosum (view all the variants in this disease) |
| OMIM ID | 278700 |
| 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; |