Autism, susceptibility to, 19

Summary

Autism, susceptibility to, 19 (MONDO:0014041) is a disease with 1 cohort gene.

At a glance

• Cohort genes: 1
• ClinVar variants: 1

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	autism, susceptibility to, 19
Mondo ID	MONDO:0014041
OMIM	615091
UMLS	C3554495
MedGen	767409
Is cancer (heuristic)	no

Also known as: autism, susceptibility to, 19 · autism, susceptibility to, type 19 · AUTS19

Data availability: 1 ClinVar variant · 1 GenCC gene-disease record.

Disease family

Classification path: disease susceptibility › inherited disease susceptibility › autism, susceptiblity to › autism, susceptibility to, 19

Related subtypes (25): autism, susceptibility to, X-linked 1, autism, susceptibility to, X-linked 2, autism, susceptibility to, X-linked 3, autism, susceptibility to, X-linked 4, autism, susceptibility to, X-linked 5, epsilon-trimethyllysine hydroxylase deficiency, intellectual developmental disorder with autism and speech delay, autism, susceptibility to, 8, autism, susceptibility to, 3, autism, susceptibility to, 6, autism, susceptibility to, 7, autism, susceptibility to, 11, autism, susceptibility to, 12, autism, susceptibility to, 13, autism, susceptibility to, 9, autism, susceptibility to, 10, autism, susceptibility to, 15, autism, susceptibility to, 16, autism, susceptibility to, 17, intellectual developmental disorder with autism and macrocephaly, autism, susceptibility to, 20, autism, susceptibility to, 14a, autism, susceptibility to, 14b, autism, susceptibility to, 1, autism, susceptibility to, 4

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

1 retrieved; paginated sample, class counts are floors:

1 risk factor

ClinVar	Variant (HGVS)	Gene	Classification	Review
40089	NC_000004.12:g.98929153dup	EIF4E	risk factor	no assertion criteria provided

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 1 · 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
EIF4E	Limited	Unknown	autism, susceptibility to, 19

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
EIF4E	HGNC:3287	ENSG00000151247	P06730	Eukaryotic translation initiation factor 4E	gencc,clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
EIF4E	Eukaryotic translation initiation factor 4E	Acts in the cytoplasm to initiate and regulate protein synthesis and is required in the nucleus for export of a subset of mRNAs from the nucleus to the cytoplasm which promotes processes such as RNA capping, processing and splicing.

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)
EIF4E	Other/Unknown	no		TIF_eIF_4E, TIF_eIF_4E_CS, TIF_eIF4e-like

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
calcaneal tendon	1
oocyte	1
sperm	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
EIF4E	291	ubiquitous	marker	sperm, calcaneal tendon, oocyte

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
EIF4E	5,888

Structural data

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

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
EIF4E	P06730	45

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 14. 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
Z-decay: degradation of maternal mRNAs by zygotically expressed factors	1	951.7×	0.006	EIF4E
mTORC1-mediated signalling	1	475.8×	0.006	EIF4E
Deadenylation of mRNA	1	439.2×	0.006	EIF4E
Transport of the SLBP independent Mature mRNA	1	326.3×	0.006	EIF4E
M-decay: degradation of maternal mRNAs by maternally stored factors	1	326.3×	0.006	EIF4E
Transport of the SLBP Dependant Mature mRNA	1	317.2×	0.006	EIF4E
Dengue Virus Genome Translation and Replication	1	317.2×	0.006	EIF4E
Transport of Mature mRNA Derived from an Intronless Transcript	1	271.9×	0.006	EIF4E
Activation of the mRNA upon binding of the cap-binding complex and eIFs, and subsequent binding to 43S	1	271.9×	0.006	EIF4E
Translation initiation complex formation	1	190.3×	0.007	EIF4E
Ribosomal scanning and start codon recognition	1	190.3×	0.007	EIF4E
ISG15 antiviral mechanism	1	150.3×	0.008	EIF4E
L13a-mediated translational silencing of Ceruloplasmin expression	1	101.1×	0.010	EIF4E
GTP hydrolysis and joining of the 60S ribosomal subunit	1	100.2×	0.010	EIF4E

GO biological processes 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.

GO term	Cohort genes	Fold	FDR	Sample cohort genes
regulation of translation at postsynapse, modulating synaptic transmission	1	5617.3×	0.002	EIF4E
cellular response to dexamethasone stimulus	1	581.1×	0.006	EIF4E
positive regulation of mitotic cell cycle	1	468.1×	0.006	EIF4E
behavioral fear response	1	432.1×	0.006	EIF4E
stem cell population maintenance	1	421.3×	0.006	EIF4E
translational initiation	1	358.6×	0.006	EIF4E
mRNA export from nucleus	1	295.6×	0.006	EIF4E
negative regulation of neuron differentiation	1	271.8×	0.006	EIF4E
regulation of translation	1	218.9×	0.006	EIF4E
G1/S transition of mitotic cell cycle	1	200.6×	0.006	EIF4E
negative regulation of translation	1	195.9×	0.006	EIF4E
neuron differentiation	1	100.3×	0.010	EIF4E

Therapeutics

Drug target analysis

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

Druggability breadth: 1 of 1 evidence-associated genes (100%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).

Genes with an approved drug

The molecule shown is one approved compound that hits the gene — not necessarily a drug of choice or one indicated for this disease.

Symbol	Example approved molecule
EIF4E	RIBAVIRIN

Top cohort targets by molecule count

Symbol	Molecules	Max phase
EIF4E	4	4

Drugs targeting cohort genes (top 30)

Molecule	Max phase	Targets in cohort
RIBAVIRIN	4	EIF4E
SIROLIMUS	4	EIF4E
TOMIVOSERTIB	2	EIF4E
TINODASERTIB	2	EIF4E

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 0.

Cohort genes with ChEMBL bioactivity (full, sorted by assay count)

Symbol	Assays	Type breakdown
EIF4E	136	Binding:136

Cohort genes with high screening signal

≥100 ChEMBL assays — a studied-ness signal; see Therapeutics for approved-drug status.

Symbol	ChEMBL assays
EIF4E	136

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

4 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.

Compound	Max phase	Cohort target (bioactivity)
RIBAVIRIN	4	EIF4E
SIROLIMUS	4	EIF4E
TOMIVOSERTIB	2	EIF4E
TINODASERTIB	2	EIF4E

Druggability pyramid

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

Tier	Definition	Genes	Symbols
A	Approved (phase 4 drug)	1	EIF4E
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	0

Undrugged target profiles

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

Clinical trials & evidence

Clinical trials

Clinical trials: 0.