YY1 Chromosome 14
YY1 transcription factor
Upload your DNA to see your personal genotypes for variants in YY1.
What This Gene Does
YY1 is a ubiquitously distributed transcription factor belonging to the GLI-Kruppel class of zinc finger proteins. The protein is involved in repressing and activating a diverse number of promoters. YY1 may direct histone deacetylases and histone acetyltransferases to a promoter in order to activate or repress the promoter, thus implicating histone modification in the function of YY1. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"Zinc fingers C2H2-type|INO80 complex"
Locus Type
gene with protein product
Location
14q32.2
Ensembl
ENSG00000100811
Associated Conditions (4)
Gabriele de Vries syndrome
Inborn genetic diseases
Neurodevelopmental disorder
Intellectual disability
Key Variants
RS2549138607
Conflicting classifications of pathogenicity
Gabriele de Vries syndrome, Gabriele de Vries syndrome
Health Risk
RS376271434
Conflicting classifications of pathogenicity
Gabriele de Vries syndrome, Inborn genetic diseases, Gabriele de Vries syndrome
Health Risk
RS746323472
Conflicting classifications of pathogenicity
Gabriele de Vries syndrome, Gabriele de Vries syndrome
Health Risk
RS76675246
Conflicting classifications of pathogenicity
Gabriele de Vries syndrome, Gabriele de Vries syndrome
Health Risk
RS1555368900
Likely pathogenic
Health Risk
RS1555370868
Likely pathogenic
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1890697895
Likely pathogenic
Gabriele de Vries syndrome, Gabriele de Vries syndrome
Health Risk
RS1891340236
Likely pathogenic
Gabriele de Vries syndrome, Gabriele de Vries syndrome
Health Risk
RS2139604219
Likely pathogenic
Health Risk
RS2139605785
Likely pathogenic
Gabriele de Vries syndrome, Gabriele de Vries syndrome
Health Risk
RS2139605815
Likely pathogenic
Neurodevelopmental disorder, Neurodevelopmental disorder
Health Risk
RS2139605856
Likely pathogenic
Health Risk
All Variants (36)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2549138607 | Health Risk | Conflicting classifications of pathogenicity | Gabriele de Vries syndrome, Gabriele de Vries syndrome |
| RS376271434 | Health Risk | Conflicting classifications of pathogenicity | Gabriele de Vries syndrome, Inborn genetic diseases, Gabriele de Vries syndrome |
| RS746323472 | Health Risk | Conflicting classifications of pathogenicity | Gabriele de Vries syndrome, Gabriele de Vries syndrome |
| RS76675246 | Health Risk | Conflicting classifications of pathogenicity | Gabriele de Vries syndrome, Gabriele de Vries syndrome |
| RS1555368900 | Health Risk | Likely pathogenic | — |
| RS1555370868 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1890697895 | Health Risk | Likely pathogenic | Gabriele de Vries syndrome, Gabriele de Vries syndrome |
| RS1891340236 | Health Risk | Likely pathogenic | Gabriele de Vries syndrome, Gabriele de Vries syndrome |
| RS2139604219 | Health Risk | Likely pathogenic | — |
| RS2139605785 | Health Risk | Likely pathogenic | Gabriele de Vries syndrome, Gabriele de Vries syndrome |
| RS2139605815 | Health Risk | Likely pathogenic | Neurodevelopmental disorder, Neurodevelopmental disorder |
| RS2139605856 | Health Risk | Likely pathogenic | — |
| RS2549138613 | Health Risk | Likely pathogenic | Gabriele de Vries syndrome, Gabriele de Vries syndrome |
| RS2549138620 | Health Risk | Likely pathogenic | Gabriele de Vries syndrome, Gabriele de Vries syndrome |
| RS2549138621 | Health Risk | Likely pathogenic | Gabriele de Vries syndrome, Gabriele de Vries syndrome |
| RS2549139328 | Health Risk | Likely pathogenic | Gabriele de Vries syndrome, Gabriele de Vries syndrome |
| RS2549139334 | Health Risk | Likely pathogenic | Gabriele de Vries syndrome, Gabriele de Vries syndrome |
| RS2549139361 | Health Risk | Likely pathogenic | — |
| RS2549139366 | Health Risk | Likely pathogenic | Gabriele de Vries syndrome, Gabriele de Vries syndrome |
| RS1131692043 | Health Risk | Pathogenic | Gabriele de Vries syndrome, Gabriele de Vries syndrome |
| RS1131692044 | Health Risk | Pathogenic | Gabriele de Vries syndrome, Gabriele de Vries syndrome |
| RS1131692045 | Health Risk | Pathogenic | Gabriele de Vries syndrome, Gabriele de Vries syndrome |
| RS1131692046 | Health Risk | Pathogenic | Gabriele de Vries syndrome, Gabriele de Vries syndrome |
| RS1131692163 | Health Risk | Pathogenic | Gabriele de Vries syndrome, Gabriele de Vries syndrome |
| RS1189366704 | Health Risk | Pathogenic | Gabriele de Vries syndrome, Gabriele de Vries syndrome |
| RS1555370811 | Health Risk | Pathogenic | — |
| RS1595309671 | Health Risk | Pathogenic | — |
| RS1890695996 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2139604254 | Health Risk | Pathogenic | Gabriele de Vries syndrome, Gabriele de Vries syndrome |
| RS2139605757 | Health Risk | Pathogenic | — |
| RS2139605768 | Health Risk | Pathogenic | — |
| RS2549127399 | Health Risk | Pathogenic | Gabriele de Vries syndrome, Gabriele de Vries syndrome |
| RS2549139353 | Health Risk | Pathogenic | Gabriele de Vries syndrome, Gabriele de Vries syndrome |
| RS2139605753 | Health Risk | Pathogenic/Likely pathogenic | Gabriele de Vries syndrome, Intellectual disability, Gabriele de Vries syndrome |
| RS2139605796 | Health Risk | Pathogenic/Likely pathogenic | Gabriele de Vries syndrome, Gabriele de Vries syndrome |
| RS759536629 | Health Risk | Pathogenic/Likely pathogenic | Gabriele de Vries syndrome, Gabriele de Vries syndrome, Intellectual disability |