INTS1

Chr 7

integrator complex subunit 1

Also known as: INT1, NDCAGF, NET28

NCBI Gene: 26173 ENSG00000164880 UniProt: Q8N201

INTS1 encodes a subunit of the Integrator complex that terminates RNA polymerase II transcription and processes small nuclear RNAs, with the gene being highly constrained against loss-of-function variants (pLI ~1.0, LOEUF 0.476). Mutations cause autosomal recessive neurodevelopmental disorder with intellectual disability and variable features including hypotonia, seizures, and brain abnormalities. The disorder typically presents in infancy with developmental delays and affects the central nervous system primarily.

ResearchSummary from RefSeq, UniProt

INTS1 is a subunit of the Integrator complex, which associates with the C-terminal domain of RNA polymerase II large subunit (POLR2A; MIM 180660) and mediates 3-prime end processing of small nuclear RNAs U1 (RNU1; MIM 180680) and U2 (RNU2; MIM 180690) (Baillat et al., 2005 [PubMed 16239144]).[supplied by OMIM, Mar 2008]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtNeurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies

Clinical highlights

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.48

LOEUF

LOF

Mechanism· G2P

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