Joubert syndrome 31

Summary

Joubert syndrome 31 (MONDO:0033310) is a disease caused by CEP120 (GenCC Strong), with 1 cohort gene.

At a glance

• Causal gene: CEP120 (GenCC Strong)
• Cohort genes: 1
• ClinVar variants: 21

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	Joubert syndrome 31
Mondo ID	MONDO:0033310
OMIM	617761
DOID	DOID:0080277
UMLS	C4540355
MedGen	1618082
GARD	0016251
Is cancer (heuristic)	no

Also known as: JBTS31 · Joubert syndrome 31

Data availability: 21 ClinVar variants · 1 GenCC gene-disease record.

Disease family

Classification path: disease › human disease › disease by body system or component › syndromic disease › Joubert syndrome › Joubert syndrome 31

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 38, Joubert syndrome 39, Joubert syndrome 40, Joubert syndrome 37, Joubert syndrome 35, Joubert syndrome 36, Joubert syndrome 30, Joubert syndrome 32, 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

21 retrieved; paginated sample, class counts are floors:

7 uncertain significance, 4 benign, 3 conflicting classifications of pathogenicity, 3 pathogenic, 2 likely pathogenic, 1 pathogenic/likely pathogenic, 1 benign/likely benign

ClinVar	Variant (HGVS)	Gene	Classification	Review
1376162	NM_001375405.1(CEP120):c.1397del (p.Leu466fs)	CEP120	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
446144	NM_001375405.1(CEP120):c.581T>C (p.Val194Ala)	CEP120	Pathogenic	no assertion criteria provided
446146	NM_001375405.1(CEP120):c.2177T>C (p.Leu726Pro)	CEP120	Pathogenic	no assertion criteria provided
446147	NM_001375405.1(CEP120):c.1138_1139insA (p.Ser380fs)	CEP120	Pathogenic	no assertion criteria provided
1696573	NM_001375405.1(CEP120):c.50-2113_206+103del	CEP120	Likely pathogenic	criteria provided, single submitter
4845802	NM_001375405.1(CEP120):c.85del (p.Leu28_Val29insTer)	CEP120	Likely pathogenic	criteria provided, single submitter
1388617	NM_001375405.1(CEP120):c.2606G>A (p.Arg869His)	CEP120	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
446148	NM_001375405.1(CEP120):c.1646C>T (p.Ala549Val)	CEP120	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
972143	NM_001375405.1(CEP120):c.1119G>C (p.Lys373Asn)	CEP120	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
1027808	NM_001375405.1(CEP120):c.2462A>G (p.Asn821Ser)	CEP120	Uncertain significance	criteria provided, single submitter
1027810	NM_001375405.1(CEP120):c.612+5G>A	CEP120	Uncertain significance	criteria provided, multiple submitters, no conflicts
1031687	NM_001375405.1(CEP120):c.1062G>T (p.Gln354His)	CEP120	Uncertain significance	criteria provided, single submitter
2429735	NM_001375405.1(CEP120):c.1684del (p.Thr562fs)	CEP120	Uncertain significance	no assertion criteria provided
2429736	NM_001375405.1(CEP120):c.214C>T (p.Arg72Cys)	CEP120	Uncertain significance	no assertion criteria provided
2582609	NM_001375405.1(CEP120):c.2044G>T (p.Ala682Ser)	CEP120	Uncertain significance	criteria provided, single submitter
577784	NM_001375405.1(CEP120):c.1684A>G (p.Thr562Ala)	CEP120	Uncertain significance	criteria provided, multiple submitters, no conflicts
1166871	NM_001375405.1(CEP120):c.1431-11_1431-9del	CEP120	Benign	criteria provided, multiple submitters, no conflicts
1167916	NM_001375405.1(CEP120):c.2826T>C (p.Asp942=)	CEP120	Benign	criteria provided, multiple submitters, no conflicts
1167918	NM_001375405.1(CEP120):c.816C>T (p.His272=)	CEP120	Benign	criteria provided, multiple submitters, no conflicts
446145	NM_001375405.1(CEP120):c.2134C>T (p.Leu712Phe)	CEP120	Benign	criteria provided, multiple submitters, no conflicts
707477	NM_001375405.1(CEP120):c.1112A>G (p.Lys371Arg)	CEP120	Benign/Likely benign	criteria provided, multiple submitters, no conflicts

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 6 · Orphanet: 3 · 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
CEP120	Strong	Autosomal recessive	Joubert syndrome 31	6

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
CEP120	Orphanet:220493	Joubert syndrome with ocular defect
CEP120	Orphanet:474	Jeune syndrome
CEP120	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
CEP120	HGNC:26690	ENSG00000168944	Q8N960	Centrosomal protein of 120 kDa	gencc,clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
CEP120	Centrosomal protein of 120 kDa	Plays a role in the microtubule-dependent coupling of the nucleus and the centrosome.

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)
CEP120	Other/Unknown	no		C2_dom, DUF3668, C2_domain_sf

Expression context

Cohort genes with no expression data: 0.

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
epithelial cell of pancreas	1
mucosa of paranasal sinus	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
CEP120	254	ubiquitous	yes	calcaneal tendon, epithelial cell of pancreas, mucosa of paranasal sinus

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
CEP120	1,928

Structural data

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

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
CEP120	Q8N960	4

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
positive regulation of centrosome duplication	1	3370.4×	9e-04	CEP120
interkinetic nuclear migration	1	3370.4×	9e-04	CEP120
positive regulation of establishment of protein localization	1	2808.7×	9e-04	CEP120
positive regulation of centriole elongation	1	2407.4×	9e-04	CEP120
astral microtubule organization	1	1296.3×	0.001	CEP120
positive regulation of cilium assembly	1	766.0×	0.002	CEP120
centrosome cycle	1	337.0×	0.004	CEP120
neurogenesis	1	208.1×	0.005	CEP120
cerebral cortex development	1	205.5×	0.005	CEP120

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
CEP120	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	CEP120

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)
CEP120	0	—

Clinical trials & evidence

Clinical trials

Clinical trials: 0.