CELF1
CUGBP Elav-like family member 1
Summary
Members of the CELF/BRUNOL protein family contain two N-terminal RNA recognition motif (RRM) domains, one C-terminal RRM domain, and a divergent segment of 160-230 aa between the second and third RRM domains. Members of this protein family regulate pre-mRNA alternative splicing and may also be involved in mRNA editing, and translation. This gene may play a role in myotonic dystrophy type 1 (DM1) via interactions with the dystrophia myotonica-protein kinase (DMPK) gene. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
Known Variants31 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs145495807 | 11:47,493,806 | C/T | — | benign |
| rs767288677 | 11:47,493,859 | T/C | — | uncertain significance |
| rs11039255 | 11:47,495,746 | G/T | intron variant | — |
| rs1198842749 | 11:47,496,989 | T/C | — | uncertain significance |
| rs2497333747 | 11:47,496,995 | T/C | — | uncertain significance |
| rs2497344082 | 11:47,497,055 | C/T | — | uncertain significance |
| rs145340697 | 11:47,498,415 | T/C | — | uncertain significance |
| rs12224672 | 11:47,500,400 | C/T | intron variant | — |
| rs57680742 | 11:47,501,888 | C/T | intron variant | — |
| rs2499212094 | 11:47,505,064 | T/C | — | uncertain significance |
| rs779501534 | 11:47,505,956 | C/T | — | uncertain significance |
| rs776176922 | 11:47,506,012 | C/T | — | uncertain significance |
| rs776200506 | 11:47,508,336 | T/C | — | uncertain significance |
| rs747689679 | 11:47,508,338 | T/C | — | uncertain significance |
| rs2499903650 | 11:47,508,766 | C/A | — | uncertain significance |
| rs200901411 | 11:47,510,458 | C/T | — | uncertain significance |
| rs1190089686 | 11:47,510,547 | T/G | — | uncertain significance |
| rs7945021 | 11:47,512,138 | G/A | upstream gene variant | — |
| rs11039265 | 11:47,523,214 | C/T | — | — |
| rs2203712 | 11:47,534,964 | T/C | regulatory region variant | — |
| rs74445441 | 11:47,538,134 | T/A | upstream gene variant | — |
| rs10838725 | 11:47,557,871 | T/C | intron variant | — |
| rs61895111 | 11:47,558,516 | C/T | intron variant | — |
| rs80221606 | 11:47,560,211 | A/T | — | — |
| rs11039283 | 11:47,563,354 | G/T | — | — |
| rs10838726 | 11:47,568,344 | C/G | intron variant | — |
| rs12225051 | 11:47,571,967 | C/T | intron variant | — |
| rs71475921 | 11:47,573,342 | G/A | intron variant | — |
| rs2868996 | 11:47,575,370 | A/T | — | — |
| rs28364769 | 11:47,575,372 | T/C | — | — |
| rs11537751 | 11:47,587,452 | C/T | splice region variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.