CPSF1 Chromosome 8
Cleavage and polyadenylation specific factor 1
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What This Gene Does
Cleavage and polyadenylation specificity factor (CPSF) is a multisubunit complex that plays a central role in 3-prime processing of pre-mRNAs. CPSF recognizes the AAUAAA signal in the pre-mRNA and interacts with other proteins to facilitate both RNA cleavage and poly(A) synthesis. CPSF1 is the largest subunit of the CPSF complex (Murthy and Manley, 1995 [PubMed 7590244]).[supplied by OMIM, Mar 2008]
Gene Info
Gene Group
"Cleavage and polyadenylation specific factor subunits|MicroRNA protein coding host genes"
Locus Type
gene with protein product
Location
8q24.3
Ensembl
ENSG00000071894
Associated Conditions (1)
Myopia 27
Key Variants
RS545383870
Conflicting classifications of pathogenicity
Health Risk
RS562635122
Conflicting classifications of pathogenicity
Health Risk
RS782640869
Conflicting classifications of pathogenicity
Myopia 27, Myopia 27
Health Risk
RS1821166689
Likely pathogenic
Myopia 27, Myopia 27
Health Risk
RS2537385296
Likely pathogenic
Myopia 27, Myopia 27
Health Risk
RS1554862601
Pathogenic
Myopia 27, Myopia 27
Health Risk
RS1586620121
Pathogenic
Myopia 27, Myopia 27
Health Risk
RS2130766210
Pathogenic
Health Risk
RS782230619
Pathogenic
Health Risk
RS782555528
Pathogenic
Myopia 27, Myopia 27
Health Risk
All Variants (10)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS545383870 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS562635122 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS782640869 | Health Risk | Conflicting classifications of pathogenicity | Myopia 27, Myopia 27 |
| RS1821166689 | Health Risk | Likely pathogenic | Myopia 27, Myopia 27 |
| RS2537385296 | Health Risk | Likely pathogenic | Myopia 27, Myopia 27 |
| RS1554862601 | Health Risk | Pathogenic | Myopia 27, Myopia 27 |
| RS1586620121 | Health Risk | Pathogenic | Myopia 27, Myopia 27 |
| RS2130766210 | Health Risk | Pathogenic | — |
| RS782230619 | Health Risk | Pathogenic | — |
| RS782555528 | Health Risk | Pathogenic | Myopia 27, Myopia 27 |