Autism, susceptibility to, 16
disease diseaseOn this page
Also known as autism susceptibility 16autism, susceptibility to, type 16AUTS16
Summary
Autism, susceptibility to, 16 (MONDO:0013258) 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, 16 |
| Mondo ID | MONDO:0013258 |
| OMIM | 613410 |
| UMLS | C3150677 |
| MedGen | 462027 |
| Is cancer (heuristic) | no |
Also known as: autism susceptibility 16 · autism, susceptibility to, 16 · autism, susceptibility to, type 16 · AUTS16
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, 16
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, 17, intellectual developmental disorder with autism and macrocephaly, autism, susceptibility to, 19, 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
8 retrieved; paginated sample, class counts are floors:
4 uncertain significance, 2 likely benign, 1 risk factor, 1 likely pathogenic
| ClinVar | Variant (HGVS) | Gene | Classification | Review |
|---|---|---|---|---|
| 4074730 | NM_173653.4(SLC9A9):c.1774C>T (p.Gln592Ter) | SLC9A9 | Likely pathogenic | criteria provided, single submitter |
| 2363 | NM_173653.4(SLC9A9):c.1267C>T (p.Arg423Ter) | SLC9A9 | risk factor | no assertion criteria provided |
| 1691277 | NM_173653.4(SLC9A9):c.1268G>A (p.Arg423Gln) | SLC9A9 | Uncertain significance | criteria provided, single submitter |
| 2431637 | NM_173653.4(SLC9A9):c.119del (p.Leu40fs) | SLC9A9 | Uncertain significance | criteria provided, single submitter |
| 2579121 | NM_173653.4(SLC9A9):c.1380G>T (p.Met460Ile) | SLC9A9 | Uncertain significance | criteria provided, single submitter |
| 996870 | NM_173653.4(SLC9A9):c.1203+1G>A | SLC9A9 | Uncertain significance | criteria provided, single submitter |
| 252794 | NM_173653.4(SLC9A9):c.1486G>A (p.Asp496Asn) | SLC9A9 | Likely benign | criteria provided, multiple submitters, no conflicts |
| 4819543 | NM_173653.4(SLC9A9):c.1226C>G (p.Ala409Gly) | SLC9A9 | Likely benign | 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 |
|---|---|---|---|---|
| SLC9A9 | Limited | Autosomal dominant | autism, susceptibility to, 16 | 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 |
|---|---|---|---|---|---|
| SLC9A9 | HGNC:20653 | ENSG00000181804 | Q8IVB4 | Sodium/hydrogen exchanger 9 | gencc,clinvar |
Cohort function summary
Lead sentence per gene, UniProt-curated.
| Symbol | Protein name | Function (lead sentence) |
|---|---|---|
| SLC9A9 | Sodium/hydrogen exchanger 9 | Endosomal Na(+), K(+)/H(+) antiporter. |
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) |
|---|---|---|---|---|
| SLC9A9 | Other/Unknown | no | NHE-6/7/9, NaH_exchanger, Cation/H_exchanger_TM |
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 |
| monocyte | 1 |
| tendon | 1 |
Per-gene tissue summary (top 30)
| Symbol | Bgee breadth | FANTOM5 breadth | SCXA | Top tissues |
|---|---|---|---|---|
| SLC9A9 | 240 | ubiquitous | marker | calcaneal tendon, tendon, monocyte |
Protein interactions among cohort
Intra-cohort edges: 0.
Hub genes (top 10 by interactor count)
| Symbol | Interactor count |
|---|---|
| SLC9A9 | 1,313 |
Structural data
PDB: 0 · AlphaFold-only: 1 · No structure: 0
AlphaFold-only cohort genes (top 30 by pLDDT)
| Symbol | UniProt | pLDDT |
|---|---|---|
| SLC9A9 | Q8IVB4 | 73.46 |
Function
Pathway analysis
Distinct Reactome pathways touched by cohort: 8. 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 |
|---|---|---|---|---|
| Defective SLC9A9 causes autism 16 (AUTS16) | 1 | 11420.0× | 7e-04 | SLC9A9 |
| Sodium/Proton exchangers | 1 | 1268.9× | 0.003 | SLC9A9 |
| SLC transporter disorders | 1 | 203.9× | 0.012 | SLC9A9 |
| Disorders of transmembrane transporters | 1 | 139.3× | 0.012 | SLC9A9 |
| R-HSA-425393 | 1 | 129.8× | 0.012 | SLC9A9 |
| SLC-mediated transmembrane transport | 1 | 59.2× | 0.023 | SLC9A9 |
| Transport of small molecules | 1 | 25.1× | 0.045 | SLC9A9 |
| Disease | 1 | 13.1× | 0.076 | SLC9A9 |
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 |
|---|---|---|---|---|
| phagosome maturation | 1 | 1203.7× | 0.003 | SLC9A9 |
| sodium ion import across plasma membrane | 1 | 624.1× | 0.003 | SLC9A9 |
| regulation of intracellular pH | 1 | 601.9× | 0.003 | SLC9A9 |
| monoatomic ion transport | 1 | 156.0× | 0.009 | SLC9A9 |
| potassium ion transmembrane transport | 1 | 135.9× | 0.009 | SLC9A9 |
| defense response to bacterium | 1 | 108.0× | 0.009 | SLC9A9 |
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 |
|---|---|---|
| SLC9A9 | 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 | SLC9A9 |
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) |
|---|---|---|
| SLC9A9 | 0 | — |
Clinical trials & evidence
Clinical trials
Clinical trials: 0.
Related Atlas pages
- Cohort genes: SLC9A9