13q12.12 Copy Number Variation
Description
Copy number variations in the region 13q12.12 are rare, pathological mutations in the human genome. It is a risk variation for neuropsychiatric diseases like schizophrenia (Kirov et al., 2014), and with the presence of SACS it harbors a gene known for causing Spastic ataxia (MIM#270550).
Genomic location
Assembly:
Coordinates:
Disorder Information from Orphanet
This CNV is not yet linked to an OrphaCode.
Molecular pathway
Gene Information
| HGNC | Gene Name | NCBI | Ensembl | UniProt |
|---|---|---|---|---|
| SGCG | sarcoglycan gamma | 6445 | ENSG00000102683 | Q13326 |
| SACS | sacsin molecular chaperone | 26278 | ENSG00000151835 | Q9NZJ4 |
| TNFRSF19 | TNF receptor superfamily member 19 | 55504 | ENSG00000127863 | Q9NS68 |
| MIPEP | mitochondrial intermediate peptidase | 4285 | ENSG00000027001 | Q99797 |
| C1QTNF9B | C1q and TNF related 9B | 387911 | ENSG00000205863 | B2RNN3 |
| SPATA13 | spermatogenesis associated 13 | 221178 | ENSG00000182957 | Q96N96 |
| C1QTNF9 | C1q and TNF related 9 | 338872 | ENSG00000240654 | P0C862 |
Evidence
- Loading citation... [PMID: 30767844]
- Loading citation... [PMID: 23992924]