PUF60 poly(U) binding splicing factor 60
Gene ID: 22827, updated on 11-Apr-2024Gene type: protein coding
Also known as: FIR; VRJS; RoBPI; SIAHBP1
- See all available tests in GTR for this gene
- Go to complete Gene record for PUF60
- Go to Variation Viewer for PUF60 variants
Summary
This gene encodes a nucleic acid-binding protein that plays a role in a variety of nuclear processes, including pre-mRNA splicing and transcriptional regulation. The encoded protein forms a complex with the far upstream DNA element (FUSE) and FUSE-binding protein at the myelocytomatosis oncogene (MYC) promoter. This complex represses MYC transcription through the core-TFIIH basal transcription factor. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Aug 2012]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| 8q24.3 microdeletion syndrome | See labs |
Copy number response
| Description |
|---|
| Copy number response Haploinsufficency Sufficient evidence for dosage pathogenicity (Last evaluated 2024-01-09) ClinGen Genome Curation PagePubMedTriplosensitivity No evidence available (Last evaluated 2024-01-09) ClinGen Genome Curation Page |
Genomic context
- Location:
- 8q24.3
- Sequence:
- Chromosome: 8; NC_000008.11 (143816344..143829315, complement)
- Total number of exons:
- 14
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for PUF60 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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