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ASB3 |
Gene Facts External Data Attribution
- HGNC Symbol
- ASB3 (HGNC:16013) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- ankyrin repeat and SOCS box containing 3
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- No previous names found
- Alias symbols
- ASB-3
- %HI
- 0(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0(Read more about gnomAD pLI score)
- LOEUF
- 1(Read more about gnomAD LOEUF score)
- Cytoband
- 2p16.2
- Genomic Coordinates
-
GRCh37/hg19: chr2:53897117-54014090 NCBI Ensembl UCSC GRCh38/hg38: chr2:53669980-53786953 NCBI Ensembl UCSC - MANE Select Transcript
- NM_016115.5 ENST00000263634.8 (Read more about MANE Select)
- Function
- Probable substrate-recognition component of a SCF-like ECS (Elongin-Cullin-SOCS-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins. Recognizes TNFRSF1B. {ECO:0000269|PubMed:15899873}. (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-3250
Curation Status:
Awaiting Review
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Awaiting Review
Triplosensitivity:
Awaiting Review
Last Evaluated:
Awaiting Review
Haploinsufficiency (HI) Score Details
Review not yet complete.
Triplosensitivity (TS) Score Details
Review not yet complete.
Genomic View
Select assembly:
(NC_000002.11)
(NC_000002.12)
