INTS11 Chromosome 1
Integrator complex subunit 11
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What This Gene Does
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]
Gene Info
Gene Group
"Integrator complex|MBL fold containing DNA/RNA interacting subfamily|MicroRNA protein coding host genes"
Locus Type
gene with protein product
Location
1p36.33
Ensembl
ENSG00000127054
Associated Conditions (3)
Neurodevelopmental disorder with motor and language delay
ocular defects
and brain abnormalities
Key Variants
RS556125116
Likely pathogenic
Neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities
Health Risk
RS1380311814
Pathogenic
Neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities
Health Risk
RS2522884935
Pathogenic
Neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities
Health Risk
RS2522975919
Pathogenic
Neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities
Health Risk
All Variants (4)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS556125116 | Health Risk | Likely pathogenic | Neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities |
| RS1380311814 | Health Risk | Pathogenic | Neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities |
| RS2522884935 | Health Risk | Pathogenic | Neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities |
| RS2522975919 | Health Risk | Pathogenic | Neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities |