Oocyte/zygote/embryo maturation arrest 24

Summary

Oocyte/zygote/embryo maturation arrest 24 (MONDO:0979232) is a disease with 1 cohort gene.

At a glance

• Cohort genes: 1
• ClinVar variants: 2

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	oocyte/zygote/embryo maturation arrest 24
Mondo ID	MONDO:0979232
OMIM	621232
UMLS	C6012735
MedGen	1876453
Is cancer (heuristic)	no

Data availability: 2 ClinVar variants.

Disease family

Classification path: disease › human disease › disease by etiologic mechanism › disease of genetic or genomic mechanism › hereditary disease › inherited oocyte maturation defect › oocyte/zygote/embryo maturation arrest 24

Related subtypes (23): female infertility due to zona pellucida defect, oocyte maturation defect 5, oocyte maturation defect 2, oocyte maturation defect 3, oocyte maturation defect 4, oocyte maturation defect 11, oocyte maturation defect 12, oocyte maturation defect 10, oocyte maturation defect 6, oocyte maturation defect 7, oocyte maturation defect 8, oocyte maturation defect 9, oocyte maturation defect 13, oocyte maturation defect 14, oocyte/zygote/embryo maturation arrest 17, oocyte/zygote/embryo maturation arrest 18, oocyte/zygote/embryo maturation arrest 19, oocyte/zygote/embryo maturation arrest 20, oocyte/zygote/embryo maturation arrest 21, oocyte/zygote/embryo maturation arrest 22, oocyte/zygote/embryo maturation arrest 23, oocyte/zygote/embryo maturation arrest 25, oocyte/zygote/embryo maturation arrest 16

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

2 retrieved; paginated sample, class counts are floors:

2 pathogenic

ClinVar	Variant (HGVS)	Gene	Classification	Review
3901262	Q358*	TUBA1C	Pathogenic	no assertion criteria provided
3901263	TUBA1C, 1-BP DEL, NT1330	TUBA1C	Pathogenic	no assertion criteria provided

Genes & proteins

Mendelian disease overlap and somatic drivers

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

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
TUBA1C	HGNC:20768	ENSG00000167553	Q9BQE3	Tubulin alpha-1C chain	clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
TUBA1C	Tubulin alpha-1C chain	Tubulin is the major constituent of microtubules, a cylinder consisting of laterally associated linear protofilaments composed of alpha- and beta-tubulin heterodimers.

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)
TUBA1C	Other/Unknown	no		Tubulin, Alpha_tubulin, Tubulin_FtsZ_GTPase

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
Brodmann (1909) area 46	1
oocyte	1
secondary oocyte	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
TUBA1C	288	ubiquitous	marker	secondary oocyte, Brodmann (1909) area 46, oocyte

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
TUBA1C	6,155

Structural data

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

AlphaFold-only cohort genes (top 30 by pLDDT)

Symbol	UniProt	pLDDT
TUBA1C	Q9BQE3	91.70

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 86. 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
Microtubule-dependent trafficking of connexons from Golgi to the plasma membrane	1	543.8×	0.016	TUBA1C
Transport of connexons to the plasma membrane	1	543.8×	0.016	TUBA1C
Gap junction trafficking and regulation	1	475.8×	0.016	TUBA1C
Gap junction trafficking	1	475.8×	0.016	TUBA1C
Post-chaperonin tubulin folding pathway	1	475.8×	0.016	TUBA1C
Formation of tubulin folding intermediates by CCT/TriC	1	423.0×	0.016	TUBA1C
Cooperation of Prefoldin and TriC/CCT in actin and tubulin folding	1	407.9×	0.016	TUBA1C
Prefoldin mediated transfer of substrate to CCT/TriC	1	393.8×	0.016	TUBA1C
Activation of AMPK downstream of NMDARs	1	380.7×	0.016	TUBA1C
RHO GTPases activate IQGAPs	1	346.1×	0.016	TUBA1C
Sealing of the nuclear envelope (NE) by ESCRT-III	1	346.1×	0.016	TUBA1C
HCMV Infection	1	326.3×	0.016	TUBA1C
Chaperonin-mediated protein folding	1	300.5×	0.016	TUBA1C
Gap junction assembly	1	292.8×	0.016	TUBA1C
Nuclear Envelope (NE) Reassembly	1	292.8×	0.016	TUBA1C
Selective autophagy	1	278.5×	0.016	TUBA1C
Protein folding	1	259.6×	0.016	TUBA1C
Assembly and cell surface presentation of NMDA receptors	1	253.8×	0.016	TUBA1C
Cargo trafficking to the periciliary membrane	1	248.3×	0.016	TUBA1C
Aggrephagy	1	248.3×	0.016	TUBA1C
Carboxyterminal post-translational modifications of tubulin	1	237.9×	0.016	TUBA1C
Recycling pathway of L1	1	223.9×	0.016	TUBA1C
COPI-independent Golgi-to-ER retrograde traffic	1	207.6×	0.016	TUBA1C
Post NMDA receptor activation events	1	203.9×	0.016	TUBA1C
Intraflagellar transport	1	200.3×	0.016	TUBA1C
Antimicrobial mechanism of IFN-stimulated genes	1	196.9×	0.016	TUBA1C
HSP90 chaperone cycle for steroid hormone receptors (SHR) in the presence of ligand	1	193.6×	0.016	TUBA1C
Activation of NMDA receptors and postsynaptic events	1	184.2×	0.016	TUBA1C
Signaling by Hedgehog	1	184.2×	0.016	TUBA1C
Hedgehog ‘off’ state	1	178.4×	0.016	TUBA1C

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
microtubule-based process	1	991.3×	0.003	TUBA1C
cytoskeleton-dependent intracellular transport	1	936.2×	0.003	TUBA1C
mitotic cell cycle	1	133.8×	0.010	TUBA1C
microtubule cytoskeleton organization	1	121.2×	0.010	TUBA1C
cell division	1	46.2×	0.022	TUBA1C

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
TUBA1C	COLCHICINE

Top cohort targets by molecule count

Symbol	Molecules	Max phase
TUBA1C	21	4

Drugs targeting cohort genes (top 30)

Molecule	Max phase	Targets in cohort
COLCHICINE	4	TUBA1C
VINBLASTINE	4	TUBA1C
LEVOFLOXACIN ANHYDROUS	4	TUBA1C
DOCETAXEL	4	TUBA1C
NOSCAPINE	4	TUBA1C
VINBLASTINE SULFATE	4	TUBA1C
PACLITAXEL	4	TUBA1C
LEVOFLOXACIN	4	TUBA1C
VINORELBINE	4	TUBA1C
TIRBANIBULIN	4	TUBA1C
PODOFILOX	4	TUBA1C
VINCRISTINE	4	TUBA1C
DOCETAXEL ANHYDROUS	4	TUBA1C
PATUPILONE	3	TUBA1C
ABT-751	2	TUBA1C
MAYTANSINE	2	TUBA1C
DOLASTATIN-10	2	TUBA1C
INDIBULIN	2	TUBA1C
PARBENDAZOLE	2	TUBA1C
NOCODAZOLE	2	TUBA1C
COMBRETASTATIN	1	TUBA1C

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 0.

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

Symbol	Assays	Type breakdown
TUBA1C	1,689	Binding:1648, Functional:35, ADMET:6

Cohort genes with high screening signal

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

Symbol	ChEMBL assays
TUBA1C	1,689

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

21 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)
COLCHICINE	4	TUBA1C
VINBLASTINE	4	TUBA1C
LEVOFLOXACIN ANHYDROUS	4	TUBA1C
DOCETAXEL	4	TUBA1C
NOSCAPINE	4	TUBA1C
VINBLASTINE SULFATE	4	TUBA1C
PACLITAXEL	4	TUBA1C
LEVOFLOXACIN	4	TUBA1C
VINORELBINE	4	TUBA1C
TIRBANIBULIN	4	TUBA1C
PODOFILOX	4	TUBA1C
VINCRISTINE	4	TUBA1C
DOCETAXEL ANHYDROUS	4	TUBA1C
PATUPILONE	3	TUBA1C
ABT-751	2	TUBA1C
MAYTANSINE	2	TUBA1C
DOLASTATIN-10	2	TUBA1C
INDIBULIN	2	TUBA1C
PARBENDAZOLE	2	TUBA1C
NOCODAZOLE	2	TUBA1C
COMBRETASTATIN	1	TUBA1C

Druggability pyramid

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

Tier	Definition	Genes	Symbols
A	Approved (phase 4 drug)	1	TUBA1C
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.