NEAT1

Chr 11

nuclear paraspeckle assembly transcript 1

Also known as: LINC00084, NCRNA00084, TP53LC15, TncRNA, VINC

This gene produces a long non-coding RNA that forms the core structural component of paraspeckle nuclear sub-organelles and acts as a transcriptional regulator for numerous genes. Mutations cause autosomal dominant spastic paraplegia with onset in childhood or adolescence, primarily affecting the motor system with progressive spasticity of the lower limbs.

ResearchSummary from RefSeq

This gene produces a long non-coding RNA (lncRNA) transcribed from the multiple endocrine neoplasia locus. This lncRNA is retained in the nucleus where it forms the core structural component of the paraspeckle sub-organelles. It may act as a transcriptional regulator for numerous genes, including some genes involved in cancer progression. [provided by RefSeq, Mar 2015]

ResearchGenerating clinical summary…

Active trials

371

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

—

LOEUF

—

Mechanism

Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

Background carrier burden — how many people carry a rare variant somewhere in NEAT1?

gnomAD v4 · ~76k individuals · PASS only

Rare means allele frequency under

Rare missense

none observed

0 rare PASS variants

Rare truncating (LoF)

1 in 7,600

6 rare PASS variants

Rare synonymous (reference)

none observed

0 rare PASS variants

Rare missense and truncating variants are carried at similar rates in NEAT1; this gene does not show strong loss-of-function constraint by this measure. A background rate for each class, not the frequency of any particular variant; thin-coverage exons undercount.

By genetic ancestry · 5 gnomAD groups · rare = under 0.1% in that group

Group	People	Missense	Truncating
African / African American	~21k	none seen	1 in 4,100
Admixed American	~7,648	none seen	≈ 1 in 3,800
East Asian	~2,598	none seen	≈ 1 in 2,600
South Asian	~2,418	none seen	≈ 1 in 2,400
Remaining (unassigned)	~1,057	none seen	≈ 1 in 1,000

Each group is summed over the variants that are rare in that group. Grey ≈ figures rest on fewer than five expected carriers — too few to distinguish groups. Differences mostly reflect how many people were sampled and how much variation each ancestry carries, not disease risk.

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

NEAT1 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

External Resources

Links to major genomics databases and tools

Franklin by Genoox

AI-powered variant curation and clinical analysis

DECIPHER

Genomic variants and phenotypes in rare disease patients

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

Diminished Ovarian ReserveFemale InfertilityIn Vitro Fertilization

Hippo-Related Competing Endogenous RNA (ceRNA) Network Dysregulation and In Vitro Fertilization (IVF) Outcomes in Women With Diminished Ovarian Reserve

NOT YET RECRUITING

NCT07658846Assiut UniversityStarted 2026-08-01

Clinical Literature

Open Research Assistant →

Landmark / reviewRecent case evidence

Full-Text Mentions

NLP-detected gene mentions in article bodies · via PubTator3

PubTator3

NEAT1 as a competing endogenous RNA in tumorigenesis of various cancers: Role, mechanism and therapeutic potential

Li K et al.·Int J Biol Sci

2021Functional

Identification of ceRNA Regulatory Networks Driven by the lncRNA NEAT1 in Multiple Myeloma