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BGN |
Gene Facts External Data Attribution
- HGNC Symbol
- BGN (HGNC:1044) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- biglycan
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- No previous names found
- Alias symbols
- DSPG1, SLRR1A
- %HI
- 13.51(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0.45(Read more about gnomAD pLI score)
- LOEUF
- 0.64(Read more about gnomAD LOEUF score)
- Cytoband
- Xq28
- Genomic Coordinates
-
GRCh37/hg19: chrX:152760438-152775004 NCBI Ensembl UCSC GRCh38/hg38: chrX:153494980-153509546 NCBI Ensembl UCSC - MANE Select Transcript
- NM_001711.6 ENST00000331595.9 (Read more about MANE Select)
- Function
- May be involved in collagen fiber assembly. {ECO:0000250}. (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-15701
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_000023.10)
(NC_000023.11)
