Oocyte/zygote/embryo maturation arrest 22

disease

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Summary

Oocyte/zygote/embryo maturation arrest 22 (MONDO:0976137) is a disease with 1 cohort gene.

At a glance

Cohort genes: 1
ClinVar variants: 9

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	oocyte/zygote/embryo maturation arrest 22
Mondo ID	MONDO:0976137
OMIM	621093
UMLS	C5975626
MedGen	1875156
Is cancer (heuristic)	no

Data availability: 9 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 22

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

9 retrieved; paginated sample, class counts are floors:

9 pathogenic

ClinVar	Variant (HGVS)	Gene	Classification	Review
3602609	NM_001372179.1(PABPC1L):c.290G>A (p.Gly97Asp)	PABPC1L	Pathogenic	no assertion criteria provided
3602610	NM_001372179.1(PABPC1L):c.526C>T (p.Arg176Ter)	PABPC1L	Pathogenic	no assertion criteria provided
3602611	NM_001372179.1(PABPC1L):c.958dup (p.Ile320fs)	PABPC1L	Pathogenic	no assertion criteria provided
3602612	NM_001372179.1(PABPC1L):c.410C>T (p.Ser137Phe)	PABPC1L	Pathogenic	no assertion criteria provided
3602613	NM_001372179.1(PABPC1L):c.1121G>A (p.Arg374Gln)	PABPC1L	Pathogenic	no assertion criteria provided
3602614	NM_001372179.1(PABPC1L):c.536G>A (p.Arg179Gln)	PABPC1L	Pathogenic	no assertion criteria provided
3602615	NM_001372179.1(PABPC1L):c.793C>T (p.Arg265Trp)	PABPC1L	Pathogenic	no assertion criteria provided
3602616	NM_001372179.1(PABPC1L):c.1201C>T (p.Gln401Ter)	PABPC1L	Pathogenic	no assertion criteria provided
3602617	A346V	PABPC1L	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
PABPC1L	HGNC:15797	ENSG00000101104	Q4VXU2	Polyadenylate-binding protein 1-like	clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
PABPC1L	Polyadenylate-binding protein 1-like	Poly(A)-binding protein involved in oocyte maturation and early embryo development.

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)
PABPC1L	Other/Unknown	no		RRM_dom, PABP_HYD_C, RRM_euk-type

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
body of pancreas	1
left lobe of thyroid gland	1
right lobe of liver	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
PABPC1L	210	ubiquitous	yes	body of pancreas, right lobe of liver, left lobe of thyroid gland

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
PABPC1L	1,729

Structural data

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

AlphaFold-only cohort genes (top 30 by pLDDT)

Symbol	UniProt	pLDDT
PABPC1L	Q4VXU2	76.41

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
oocyte maturation	1	601.9×	0.003	PABPC1L
positive regulation of translation	1	227.7×	0.004	PABPC1L

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
PABPC1L	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	PABPC1L

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)
PABPC1L	0	—

Clinical trials & evidence

Clinical trials

Clinical trials: 0.

Cohort genes: PABPC1L