Joubert syndrome 38

Summary

Joubert syndrome 38 (MONDO:0030353) is a disease with 1 cohort gene.

At a glance

• Cohort genes: 1
• ClinVar variants: 20

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	Joubert syndrome 38
Mondo ID	MONDO:0030353
OMIM	619476
UMLS	C5561958
MedGen	1794168
GARD	0025547
Is cancer (heuristic)	no

Also known as: JBTS38 · Joubert syndrome 38

Data availability: 20 ClinVar variants.

Disease family

Classification path: disease › human disease › disease by body system or component › syndromic disease › Joubert syndrome › Joubert syndrome 38

Related subtypes (38): Joubert syndrome 1, Joubert syndrome 10, Joubert syndrome 2, Joubert syndrome 3, Joubert syndrome with renal defect, Joubert syndrome 5, Joubert syndrome 6, Joubert syndrome 7, Joubert syndrome 9, Joubert syndrome 8, Joubert syndrome 13, Joubert syndrome 14, Joubert syndrome 15, Joubert syndrome 16, Joubert syndrome 17, Joubert syndrome 18, Joubert syndrome 20, Joubert syndrome 21, Joubert syndrome 22, Joubert syndrome 23, Joubert syndrome 24, Joubert syndrome 25, Joubert syndrome 26, Joubert syndrome 27, Joubert syndrome 28, Joubert syndrome 39, Joubert syndrome 40, Joubert syndrome 37, Joubert syndrome 35, Joubert syndrome 36, Joubert syndrome 30, Joubert syndrome 32, Joubert syndrome 31, Joubert syndrome 33, Joubert syndrome 19, Joubert syndrome 29, Joubert syndrome 11, Joubert syndrome 34

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

20 retrieved; paginated sample, class counts are floors:

9 benign, 3 pathogenic, 2 likely pathogenic, 2 conflicting classifications of pathogenicity, 2 benign/likely benign, 1 pathogenic/likely pathogenic, 1 likely benign

ClinVar	Variant (HGVS)	Gene	Classification	Review
1195877	NM_014804.3(KIAA0753):c.769A>G (p.Arg257Gly)	KIAA0753	Pathogenic	no assertion criteria provided
1195878	NM_014804.3(KIAA0753):c.2359-1G>C	KIAA0753	Pathogenic	no assertion criteria provided
1677084	NM_014804.3(KIAA0753):c.1481del (p.Lys494fs)	KIAA0753	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
254661	NM_014804.3(KIAA0753):c.1891A>T (p.Lys631Ter)	KIAA0753	Pathogenic	criteria provided, multiple submitters, no conflicts
2500739	NM_014804.3(KIAA0753):c.2333T>C (p.Met778Thr)	KIAA0753	Likely pathogenic	criteria provided, single submitter
4526596	NM_014804.3(KIAA0753):c.1722del (p.Trp574fs)	KIAA0753	Likely pathogenic	criteria provided, single submitter
254662	NM_014804.3(KIAA0753):c.1546-3C>A	KIAA0753	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
558755	NM_014804.3(KIAA0753):c.810C>T (p.Tyr270=)	KIAA0753	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
1183823	NM_014804.3(KIAA0753):c.69C>T (p.Ser23=)	KIAA0753	Benign	criteria provided, multiple submitters, no conflicts
1221496	NM_014804.3(KIAA0753):c.507T>C (p.Ser169=)	KIAA0753	Benign	criteria provided, multiple submitters, no conflicts
1236419	NM_014804.3(KIAA0753):c.2687A>G (p.Gln896Arg)	KIAA0753	Benign	criteria provided, multiple submitters, no conflicts
1238793	NM_014804.3(KIAA0753):c.1697C>T (p.Pro566Leu)	KIAA0753	Benign	criteria provided, multiple submitters, no conflicts
1252198	NM_014804.3(KIAA0753):c.1125A>T (p.Glu375Asp)	KIAA0753	Benign	criteria provided, multiple submitters, no conflicts
1259547	NM_014804.3(KIAA0753):c.*21A>G	KIAA0753	Benign	criteria provided, multiple submitters, no conflicts
1278062	NM_014804.3(KIAA0753):c.1397T>C (p.Leu466Pro)	KIAA0753	Benign	criteria provided, multiple submitters, no conflicts
1280830	NM_014804.3(KIAA0753):c.1330G>A (p.Asp444Asn)	KIAA0753	Benign	criteria provided, multiple submitters, no conflicts
1284038	NM_014804.3(KIAA0753):c.1716T>C (p.Ala572=)	KIAA0753	Benign	criteria provided, multiple submitters, no conflicts
376793	NM_014804.3(KIAA0753):c.1756A>G (p.Lys586Glu)	KIAA0753	Benign/Likely benign	criteria provided, multiple submitters, no conflicts
445434	NM_014804.3(KIAA0753):c.2338C>T (p.Arg780Cys)	KIAA0753	Benign/Likely benign	criteria provided, multiple submitters, no conflicts
713011	NM_014804.3(KIAA0753):c.236T>C (p.Val79Ala)	KIAA0753	Likely benign	criteria provided, multiple submitters, no conflicts

Genes & proteins

Mendelian disease overlap and somatic drivers

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

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
KIAA0753	Orphanet:2754	Orofaciodigital syndrome type 6
KIAA0753	Orphanet:474	Jeune syndrome
KIAA0753	Orphanet:475	Isolated Joubert syndrome

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
KIAA0753	HGNC:29110	ENSG00000198920	Q2KHM9	Protein moonraker	clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
KIAA0753	Protein moonraker	Involved in centriole duplication.

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)
KIAA0753	Other/Unknown	no		MNR

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
lower esophagus	1
lower esophagus muscularis layer	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
KIAA0753	243	ubiquitous	marker	cortical plate, lower esophagus, lower esophagus muscularis layer

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
KIAA0753	1,062

Structural data

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

AlphaFold-only cohort genes (top 30 by pLDDT)

Symbol	UniProt	pLDDT
KIAA0753	Q2KHM9	59.08

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 0. Enrichment computed across 1 evidence-associated genes (0 with Reactome annotation).

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
cytosolic ciliogenesis	1	3370.4×	0.001	KIAA0753
centriole replication	1	732.7×	0.002	KIAA0753
protein localization to centrosome	1	674.1×	0.002	KIAA0753
cilium assembly	1	73.6×	0.014	KIAA0753

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
KIAA0753	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	KIAA0753

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)
KIAA0753	0	—

Clinical trials & evidence

Clinical trials

Clinical trials: 0.