| Variant ID | 16953 |
|---|---|
| Entrez Gene ID | 6660 |
| Gene | SOX5 (GeneCards) |
| Location | hg19 12:24335168-24335168
hg38 12:24182234-24182234 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000012.11:g.24335168 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 | 133851895 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.1168 |
| CADD Raw score (version 1.3) | 0.076851 (Deleterious) |
| FATHMM raw prediction score | 0.17157 (Tolerated) |
| Deleterious probability by DeFine | 0.5539 (Deleterious) |
| Entrez Gene ID | 6660 (NCBI Gene) |
|---|---|
| Official Gene Symbol | SOX5 (GeneCards) |
| Number of variants in SOX5 in this database | 7 (view all the variants) |
| Full name | SRY-box 5 |
| Band | 12p12.1 |
| Other IDs | Vega: OTTHUMG00000169026 OMIM: 604975 HGNC: HGNC:11201 Ensembl: ENSG00000134532 |
| Other names | L-SOX5, LAMSHF, L-SOX5B, L-SOX5F |
| Summary | This gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional regulator after forming a protein complex with other proteins. The encoded protein may play a role in chondrogenesis. A pseudogene of this gene is located on chromosome 8. Multiple transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008] |
| 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; |