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HLA-DRB1 |
Gene Facts External Data Attribution
- HGNC Symbol
- HLA-DRB1 (HGNC:4948) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- major histocompatibility complex, class II, DR beta 1
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- HLA-DR1B
- Alias symbols
- No aliases found
- %HI
- 68.49(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0(Read more about gnomAD pLI score)
- LOEUF
- 1.89(Read more about gnomAD LOEUF score)
- Cytoband
- 6p21.32
- Genomic Coordinates
-
GRCh37/hg19: chr6:32546552-32557625 NCBI Ensembl UCSC GRCh38/hg38: chr6:32578775-32589848 NCBI Ensembl UCSC - MANE Select Transcript
- NM_002124.4 ENST00000360004.6 (Read more about MANE Select)
- Function
- A beta chain of antigen-presenting major histocompatibility complex class II (MHCII) molecule. In complex with the alpha chain HLA- DRA, displays antigenic peptides on professional antigen presenting cells (APCs) for recognition by alpha-beta T cell receptor (TCR) on HLA-DRB1-restricted CD4-positive T cells. This guides antigen-specific T-helper effector functions, both antibody-mediated immune response and macrophage activation, to ultimately eliminate the infectious agents and transformed cell... (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-5
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_000006.11)
(NC_000006.12)
