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RBFOX1 |
Gene Facts External Data Attribution
- HGNC Symbol
- RBFOX1 (HGNC:18222) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- RNA binding fox-1 homolog 1
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- No previous names found
- Alias symbols
- A2BP1, FOX-1, HRNBP1
- %HI
- 0.34(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 1(Read more about gnomAD pLI score)
- LOEUF
- 0.31(Read more about gnomAD LOEUF score)
- Cytoband
- 16p13.3
- Genomic Coordinates
-
GRCh37/hg19: chr16:6069025-7763342 NCBI Ensembl UCSC GRCh38/hg38: chr16:5239721-7713340 NCBI Ensembl UCSC - MANE Select Transcript
- NM_018723.4 ENST00000550418.6 (Read more about MANE Select)
- MANE Plus Clinical Transcript(s)
-
NM_145893.3 ENST00000355637.9 (Read more about MANE Plus Clinical) - Function
- RNA-binding protein that regulates alternative splicing events by binding to 5'-UGCAUGU-3' elements. Regulates alternative splicing of tissue-specific exons and of differentially spliced exons during erythropoiesis. {ECO:0000269|PubMed:16537540}. (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-2663
Curation Status:
Under Secondary Review
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Under Secondary Review
Triplosensitivity:
Under Secondary Review
Last Evaluated:
Under Secondary Review
Haploinsufficiency (HI) Score Details
Review not yet complete.
Triplosensitivity (TS) Score Details
Review not yet complete.
Genomic View
Select assembly:
(NC_000016.9)
(NC_000016.10)
