INTS11

Chr 1

integrator complex subunit 11

Also known as: CPSF3L, CPSF73L, INT11, NEDMLOB, PSF3L, RC-68, RC68

NCBI Gene: 54973 ENSG00000127054 UniProt: Q5TA45

INTS11 encodes the RNA endonuclease subunit of the Integrator complex, which terminates RNA polymerase II transcription and processes small nuclear RNAs. Biallelic mutations cause autosomal recessive neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities. This gene is extremely intolerant to loss-of-function variants (pLI ~1.0), indicating that even heterozygous loss is typically incompatible with normal development.

ResearchSummary from RefSeq, OMIM, UniProt

The Integrator complex contains at least 12 subunits and associates with the C-terminal domain of RNA polymerase II large subunit (POLR2A; MIM 180660) and mediates the 3-prime end processing of small nuclear RNAs U1 (RNU1; MIM 180680) and U2 (RNU2; MIM 180690). INTS11, or CPSF3L, is the catalytic subunit of the Integrator complex (Baillat et al., 2005 [PubMed 16239144]).[supplied by OMIM, Mar 2008]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtNeurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities

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

0.99

LOEUF

LOF

Mechanism· G2P

Some data sources returned errors (1)

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