C9orf78 chromosome 9 open reading frame 78
Gene ID: 51759, updated on 2-Nov-2024Gene type: protein coding
Also known as: CSU2; TLS1; HCA59; HSPC220; bA409K20.3
- See all available tests in GTR for this gene
- Go to complete Gene record for C9orf78
- Go to Variation Viewer for C9orf78 variants
Summary
Enables U5 snRNA binding activity. Involved in mRNA cis splicing, via spliceosome and regulation of homologous chromosome segregation. Located in chromosome, centromeric region; cytosol; and nucleoplasm. [provided by Alliance of Genome Resources, Nov 2024]
Genomic context
- Location:
- 9q34.11
- Sequence:
- Chromosome: 9; NC_000009.12 (129827290..129835275, complement)
- Total number of exons:
- 9
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for C9orf78 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- Variation ViewerRelated Variants
IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.