Autism, susceptibility to, 20

disease

On this page

Also known as AUTS20

Summary

Autism, susceptibility to, 20 (MONDO:0030004) is a disease with 1 cohort gene.

At a glance

Cohort genes: 1
ClinVar variants: 8

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	autism, susceptibility to, 20
Mondo ID	MONDO:0030004
OMIM	618830
UMLS	C5394226
MedGen	1717195
Is cancer (heuristic)	no

Also known as: AUTISM, SUSCEPTIBILITY TO, 20 · autism, susceptibility to, 20 · AUTS20

Data availability: 8 ClinVar variants · 2 GenCC gene-disease records.

Disease family

Classification path: disease susceptibility › inherited disease susceptibility › autism, susceptiblity to › autism, susceptibility to, 20

Genetics & variants

GWAS landscape

No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.

Variant details and genetic-evidence tiers

ClinVar germline variants

8 retrieved; paginated sample, class counts are floors:

4 uncertain significance, 3 risk factor, 1 conflicting classifications of pathogenicity

ClinVar	Variant (HGVS)	Gene	Classification	Review
872964	NM_001365925.2(NLGN1):c.266C>T (p.Pro89Leu)	NLGN1	risk factor	no assertion criteria provided
872965	NM_001365925.2(NLGN1):c.866T>C (p.Leu289Pro)	NLGN1	risk factor	no assertion criteria provided
872966	NM_001365925.2(NLGN1):c.950G>A (p.Gly317Glu)	NLGN1	risk factor	no assertion criteria provided
2207619	NM_001365925.2(NLGN1):c.278G>A (p.Arg93His)	NLGN1	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
3066074	NM_001365925.2(NLGN1):c.1634C>T (p.Pro545Leu)	NLGN1	Uncertain significance	no assertion criteria provided
3376202	NM_001365925.2(NLGN1):c.493+5G>A	NLGN1	Uncertain significance	criteria provided, single submitter
4530653	NM_001365925.2(NLGN1):c.602G>A (p.Gly201Asp)	NLGN1	Uncertain significance	no assertion criteria provided
978167	NM_001365925.2(NLGN1):c.2532G>A (p.Ter844=)	NLGN1	Uncertain significance	criteria provided, single submitter

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 3 · Orphanet: 0 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0

GenCC gene–disease validity (cohort genes)

the Disease column is the GenCC-asserted condition — a cohort gene’s strongest validity may be for a related predisposition syndrome.

Gene	Classification	Inheritance	Disease	Records
NLGN1	Moderate	Autosomal dominant	autism, susceptibility to, 20	3

Cohort genes → proteins

1 cohort genes, 1 distinct canonical proteins.

Evidence partition

Subset	Genes
multi_evidence	1

Cohort genes (full)

Symbol	HGNC	Ensembl	UniProt	Name	Evidence
NLGN1	HGNC:14291	ENSG00000169760	Q8N2Q7	Neuroligin-1	gencc,clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
NLGN1	Neuroligin-1	Cell surface protein involved in cell-cell-interactions via its interactions with neurexin family members.

Protein-family classification

Druggable: 0 · Difficult: 0 · Unknown: 1 · Druggable fraction: 0.0

Family distribution

Cohort families vs a genome-wide background (hypergeometric, BH-FDR; fold = observed/expected). Counts kept; sorted by enrichment, so the catch-all Other/Unknown bucket no longer leads.

Family	Genes	Fold	FDR
Other/Unknown	1	1.8×	0.558

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
NLGN1	Other/Unknown	no		Nlgn, CarbesteraseB, Carboxylesterase_B_CS

Expression context

Cohort genes with no expression data: 0.

1 cohort gene are a single-cell marker in ≥1 SCXA experiment.

Breadth distribution (Bgee present_calls)

Bucket	Genes
narrow (1-5 tissues)	0
moderate (6-20)	0
broad (>20)	1
unknown	0

Top tissues across cohort

Tissue	Cohort genes
cortical plate	1
endothelial cell	1
ventricular zone	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
NLGN1	216	broad	marker	cortical plate, ventricular zone, endothelial cell

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
NLGN1	1,968

Structural data

PDB: 1 · AlphaFold-only: 0 · No structure: 0

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
NLGN1	Q8N2Q7	2

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 1. Enrichment computed across 1 evidence-associated genes (1 with Reactome annotation).

Pathways by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 1 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

Pathway	Cohort genes	Fold	FDR	Sample cohort genes
Neurexins and neuroligins	1	196.9×	0.005	NLGN1

GO biological processes by enrichment

GO term	Cohort genes	Fold	FDR	Sample cohort genes
cytoskeletal matrix organization at active zone	1	16852.0×	0.001	NLGN1
neurexin clustering involved in presynaptic membrane assembly	1	16852.0×	0.001	NLGN1
positive regulation of synaptic vesicle exocytosis	1	8426.0×	0.001	NLGN1
positive regulation of circadian sleep/wake cycle, wakefulness	1	5617.3×	0.001	NLGN1
positive regulation of neuromuscular synaptic transmission	1	5617.3×	0.001	NLGN1
obsolete synaptic vesicle targeting	1	4213.0×	0.001	NLGN1
negative regulation of dendritic spine morphogenesis	1	3370.4×	0.001	NLGN1
terminal button organization	1	3370.4×	0.001	NLGN1
AMPA glutamate receptor clustering	1	3370.4×	0.001	NLGN1
NMDA glutamate receptor clustering	1	3370.4×	0.001	NLGN1
AMPA selective glutamate receptor signaling pathway	1	3370.4×	0.001	NLGN1
postsynaptic density protein 95 clustering	1	2808.7×	0.001	NLGN1
positive regulation of synaptic vesicle endocytosis	1	2808.7×	0.001	NLGN1
neuronal signal transduction	1	2407.4×	0.001	NLGN1
postsynaptic membrane assembly	1	2407.4×	0.001	NLGN1
NMDA selective glutamate receptor signaling pathway	1	2407.4×	0.001	NLGN1
receptor localization to synapse	1	2106.5×	0.001	NLGN1
neuron projection arborization	1	1872.4×	0.001	NLGN1
presynaptic membrane assembly	1	1685.2×	0.001	NLGN1
synaptic vesicle clustering	1	1404.3×	0.002	NLGN1
excitatory synapse assembly	1	1296.3×	0.002	NLGN1
presynapse assembly	1	1203.7×	0.002	NLGN1
neuron cell-cell adhesion	1	991.3×	0.002	NLGN1
positive regulation of synaptic transmission, GABAergic	1	991.3×	0.002	NLGN1
positive regulation of ruffle assembly	1	991.3×	0.002	NLGN1
protein localization to synapse	1	766.0×	0.002	NLGN1
positive regulation of dendritic spine development	1	766.0×	0.002	NLGN1
regulation of neuron differentiation	1	732.7×	0.002	NLGN1
positive regulation of intracellular signal transduction	1	648.1×	0.002	NLGN1
positive regulation of synaptic transmission, glutamatergic	1	624.1×	0.002	NLGN1

Therapeutics

Drug target analysis

Approved (phase 4): 0 · Phase ≥3: 0 · Phased (≥1): 0 · Undrugged: 1

Druggability breadth: 0 of 1 evidence-associated genes (0%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).

Top cohort targets by molecule count

Symbol	Molecules	Max phase
NLGN1	0	0

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 0.

Pharmacogenomics

Cohort genes with a PharmGKB record: 1; with CPIC/DPWG dosing guidelines: 0.

No cohort gene has a CPIC/DPWG genotype-guided dosing guideline (PharmGKB).

Chemical tractability of cohort targets

0 approved/phased compounds have measured bioactivity against a cohort gene (and aren’t yet in disease-level trials). This is a research / tractability signal, NOT a therapeutic recommendation — a bioactivity row often reflects off-target or screening binding (e.g. promiscuous kinase inhibitors against a cohort kinase), implying no disease mechanism.

Druggability pyramid

Cohort genes binned by druggability tier (high → low):

Tier	Definition	Genes	Symbols
A	Approved (phase 4 drug)	0
B	Phased (≥1) drug, not yet approved	0
C	Druggable family + PDB, no drug	0
D	Druggable family + AlphaFold only, no drug	0
E	Difficult family or no structure, no drug	1	NLGN1

Undrugged target profiles

1 cohort genes are undrugged. Ranked by ‘starting-point quality’ (assay depth + drugged-partner adjacency).

Symbol	ChEMBL assays	Drugged partners (top 3)
NLGN1	0	—

Clinical trials & evidence

Clinical trials

Clinical trials: 0.

Cohort genes: NLGN1