NLGN1
  • 0
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
NLGN1 (HGNC:14291) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
neuroligin 1
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
KIAA1070, NLG1
%HI
1.37(Read more about the DECIPHER Haploinsufficiency Index)
pLI
1(Read more about gnomAD pLI score)
LOEUF
0.29(Read more about gnomAD LOEUF score)
Cytoband
3q26.31
Genomic Coordinates
GRCh37/hg19: chr3:173113742-174012162 NCBI Ensembl UCSC
GRCh38/hg38: chr3:173395952-174294372 NCBI Ensembl UCSC
MANE Select Transcript
NM_001365925.2 ENST00000695368.1 (Read more about MANE Select)
Function
Cell surface protein involved in cell-cell-interactions via its interactions with neurexin family members. Plays a role in synapse function and synaptic signal transmission, and probably mediates its effects by recruiting and clustering other synaptic proteins. May promote the initial formation of synapses, but is not essential for this. In vitro, triggers the de novo formation of presynaptic structures. May be involved in specification of excitatory synapses. Required to maintain wakefulness qu... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-28031
ClinGen Curation ID:
CCID:007559
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
No Evidence for Haploinsufficiency (0)
Read full report...
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Read full report...
Last Evaluated:
03/25/2016

Haploinsufficiency (HI) Score Details

HI Score:
0
HI Evidence Strength:
No Evidence for Haploinsufficiency (Disclaimer)
HI Evidence:
  • PUBMED: 15551338
    A 15-month-old boy was described with a de novo interstitial inverted duplication of 3q24-q26.31. Clinical evaluation revealed mild but typical features of dup(3q) syndrome. The duplication was characterized by conventional and molecular cytogenetics. The results of fluorescence in situ hybridization (FISH) analysis with BAC probes suggested a disruption of the NLGN1 gene at the distal end of the duplication in 3q26.31 in the patient. The breakpoint within NLGN1 was apparently unique for this patient, and the contribution of NLGN1 disruption to the phenotype of this patient remained unclear.
  • PUBMED: 22106001
    A 2.2 Mb deletion at 3q26.3-3q26.32-encompassing the terminal end of NLGN1 and the entire NAALADL2 gene-detected by genomic microarray, and confirmed by FISH and real-time quantitative PCR. The same size deletion was subsequently found in her healthy, asymptomatic, adult mother. In Coe et al., 2014 (PMID: 25217958), NLGN1 deletions were detected in a few patients but not in controls; however, due to the rarity, it was not possible to show significance.

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)

Genomic View

Select assembly: (NC_000003.11) (NC_000003.12)