TOE1 target of EGR1, exonuclease
Gene ID: 114034, updated on 2-Nov-2024Gene type: protein coding
Also known as: PCH7; TOE-1; hCaf1z
- See all available tests in GTR for this gene
- Go to complete Gene record for TOE1
- Go to Variation Viewer for TOE1 variants
Summary
Enables poly(A)-specific ribonuclease activity and snRNA binding activity. Involved in snRNA 3'-end processing. Located in Cajal body and cytoplasm. Implicated in pontocerebellar hypoplasia type 7. [provided by Alliance of Genome Resources, Nov 2024]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Pontocerebellar hypoplasia type 7 | See labs |
Genomic context
- Location:
- 1p34.1
- Sequence:
- Chromosome: 1; NC_000001.11 (45340170..45343973)
- Total number of exons:
- 8
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for TOE1 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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