CTR9 Chromosome 11
CTR9 component of Paf1/RNA polymerase II complex
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What This Gene Does
The protein encoded by this gene is a component of the PAF1 complex, which associates with RNA polymerase II and functions in transcriptional regulation and elongation. This complex also plays a role in the modification of histones. [provided by RefSeq, Oct 2016]
Gene Info
Gene Group
"Tetratricopeptide repeat domain containing|Paf1/RNA polymerase II complex "
Locus Type
gene with protein product
Location
11p15.4
Ensembl
ENSG00000198730
Associated Conditions (5)
CTR9-related disorder
Predisposition to Wilms tumor
CTR9-related neurodevelopmental disorder
Inborn genetic diseases
Neurodevelopmental disorder
Key Variants
RS1021694407
Conflicting classifications of pathogenicity
CTR9-related disorder, Predisposition to Wilms tumor, CTR9-related neurodevelopmental disorder
Health Risk
RS113891837
Conflicting classifications of pathogenicity
Inborn genetic diseases, CTR9-related disorder, Inborn genetic diseases
Health Risk
RS138871050
Conflicting classifications of pathogenicity
Predisposition to Wilms tumor, Predisposition to Wilms tumor
Health Risk
RS141131642
Conflicting classifications of pathogenicity
Health Risk
RS143951897
Conflicting classifications of pathogenicity
CTR9-related disorder, CTR9-related disorder
Health Risk
RS35766432
Conflicting classifications of pathogenicity
CTR9-related disorder, CTR9-related disorder
Health Risk
RS372648972
Conflicting classifications of pathogenicity
Health Risk
RS748843627
Conflicting classifications of pathogenicity
Health Risk
RS75206030
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS869312709
Conflicting classifications of pathogenicity
CTR9-related neurodevelopmental disorder, CTR9-related neurodevelopmental disorder
Health Risk
RS1397467879
Likely pathogenic
CTR9-related neurodevelopmental disorder, CTR9-related neurodevelopmental disorder
Health Risk
RS2135351445
Likely pathogenic
CTR9-related neurodevelopmental disorder, CTR9-related neurodevelopmental disorder
Health Risk
All Variants (24)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1021694407 | Health Risk | Conflicting classifications of pathogenicity | CTR9-related disorder, Predisposition to Wilms tumor, CTR9-related neurodevelopmental disorder |
| RS113891837 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, CTR9-related disorder, Inborn genetic diseases |
| RS138871050 | Health Risk | Conflicting classifications of pathogenicity | Predisposition to Wilms tumor, Predisposition to Wilms tumor |
| RS141131642 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS143951897 | Health Risk | Conflicting classifications of pathogenicity | CTR9-related disorder, CTR9-related disorder |
| RS35766432 | Health Risk | Conflicting classifications of pathogenicity | CTR9-related disorder, CTR9-related disorder |
| RS372648972 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS748843627 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS75206030 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS869312709 | Health Risk | Conflicting classifications of pathogenicity | CTR9-related neurodevelopmental disorder, CTR9-related neurodevelopmental disorder |
| RS1397467879 | Health Risk | Likely pathogenic | CTR9-related neurodevelopmental disorder, CTR9-related neurodevelopmental disorder |
| RS2135351445 | Health Risk | Likely pathogenic | CTR9-related neurodevelopmental disorder, CTR9-related neurodevelopmental disorder |
| RS2135353143 | Health Risk | Likely pathogenic | CTR9-related neurodevelopmental disorder, CTR9-related neurodevelopmental disorder |
| RS2135353178 | Health Risk | Likely pathogenic | CTR9-related neurodevelopmental disorder, CTR9-related neurodevelopmental disorder |
| RS2135356050 | Health Risk | Likely pathogenic | CTR9-related neurodevelopmental disorder, CTR9-related neurodevelopmental disorder |
| RS2135369472 | Health Risk | Likely pathogenic | CTR9-related neurodevelopmental disorder, CTR9-related neurodevelopmental disorder |
| RS2539365192 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2539366599 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2539366637 | Health Risk | Likely pathogenic | — |
| RS2539366660 | Health Risk | Likely pathogenic | — |
| RS2539380198 | Health Risk | Likely pathogenic | — |
| RS772196842 | Health Risk | Likely pathogenic | CTR9-related neurodevelopmental disorder, CTR9-related neurodevelopmental disorder |
| RS2135353090 | Health Risk | Pathogenic/Likely pathogenic | CTR9-related neurodevelopmental disorder, Neurodevelopmental disorder, CTR9-related neurodevelopmental disorder |
| RS2135353126 | Health Risk | Pathogenic/Likely pathogenic | CTR9-related neurodevelopmental disorder, Inborn genetic diseases, CTR9-related neurodevelopmental disorder |