AGRN |
- 30
Haplo
Score - 0
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- AGRN (HGNC:329) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- agrin
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- AGRIN
- Alias symbols
- No aliases found
- %HI
- 71.13(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0(Read more about gnomAD pLI score)
- LOEUF
- 0.44(Read more about gnomAD LOEUF score)
- Cytoband
- 1p36.33
- Genomic Coordinates
-
GRCh37/hg19: chr1:955500-991496 NCBI Ensembl UCSC GRCh38/hg38: chr1:1020120-1056116 NCBI Ensembl UCSC - MANE Select Transcript
- NM_198576.4 ENST00000379370.7 (Read more about MANE Select)
- Function
- [Isoform 1]: Heparan sulfate basal lamina glycoprotein that plays a central role in the formation and the maintenance of the neuromuscular junction (NMJ) and directs key events in postsynaptic differentiation. Component of the AGRN-LRP4 receptor complex that induces the phosphorylation and activation of MUSK. The activation of MUSK in myotubes induces the formation of NMJ by regulating different processes including the transcription of specific genes and the clustering of AChR in the postsynapti... (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-15119
Curation Status:
Complete
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype
(30)
Triplosensitivity:
No Evidence for Triplosensitivity
(0)
Last Evaluated:
08/22/2016
Haploinsufficiency (HI) Score Details
HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype
(Disclaimer)
HI Disease:
- congenital myasthenic syndrome 8 Monarch
Triplosensitivity (TS) Score Details
TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
Genomic View
Select assembly:
(NC_000001.10)
(NC_000001.11)