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BTRC |
Gene Facts External Data Attribution
- HGNC Symbol
- BTRC (HGNC:1144) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- beta-transducin repeat containing E3 ubiquitin protein ligase
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- No previous names found
- Alias symbols
- bTrCP, betaTrCP, FBXW1A, Fwd1, beta-TrCP1, bTrCP1
- %HI
- 1.05(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0(Read more about gnomAD pLI score)
- LOEUF
- 0.64(Read more about gnomAD LOEUF score)
- Cytoband
- 10q24.32
- Genomic Coordinates
-
GRCh37/hg19: chr10:103113922-103317070 NCBI Ensembl UCSC GRCh38/hg38: chr10:101354048-101557313 NCBI Ensembl UCSC - MANE Select Transcript
- NM_033637.4 ENST00000370187.8 (Read more about MANE Select)
- Function
- Substrate recognition component of a SCF (SKP1-CUL1-F-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins (PubMed:10066435, PubMed:10497169, PubMed:9990852, PubMed:10644755, PubMed:10835356, PubMed:11238952, PubMed:11359933, PubMed:11158290, PubMed:11994270, PubMed:12791267, PubMed:12902344, PubMed:14603323, PubMed:14681206, PubMed:14988407, PubMed:15448698, PubMed:15917222, PubMed:16371461, PubMed:25503564,... (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-3514
Curation Status:
Reopened
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Reopened
Triplosensitivity:
Reopened
Last Evaluated:
Reopened
Haploinsufficiency (HI) Score Details
Review not yet complete.
Triplosensitivity (TS) Score Details
Review not yet complete.
Genomic View
Select assembly:
(NC_000010.10)
(NC_000010.11)
