CUX1 Chromosome 7
Cut like homeobox 1
Upload your DNA to see your personal genotypes for variants in CUX1.
What This Gene Does
The protein encoded by this gene is a member of the homeodomain family of DNA binding proteins. It may regulate gene expression, morphogenesis, and differentiation and it may also play a role in the cell cycle progession. Several alternatively spliced transcript variants encoding different isoforms have been identified.[provided by RefSeq, Feb 2011]
Gene Info
Gene Group
"CUT class homeoboxes and pseudogenes|Golgins"
Locus Type
gene with protein product
Location
7q22.1
Ensembl
ENSG00000257923
Associated Conditions (5)
Global developmental delay with or without impaired intellectual development
Inborn genetic diseases
Intellectual disability
CUX1-related disorder
Neurodevelopmental disorder
Key Variants
RS1320387840
Conflicting classifications of pathogenicity
Global developmental delay with or without impaired intellectual development, Global developmental delay with or without impaired intellectual development
Health Risk
RS1340914824
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1346551173
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1349024125
Conflicting classifications of pathogenicity
Inborn genetic diseases, Global developmental delay with or without impaired intellectual development, Inborn genetic diseases
Health Risk
RS1464914318
Conflicting classifications of pathogenicity
Global developmental delay with or without impaired intellectual development, Inborn genetic diseases, Global developmental delay with or without impaired intellectual development
Health Risk
RS1791729069
Conflicting classifications of pathogenicity
Intellectual disability, Global developmental delay with or without impaired intellectual development, Intellectual disability
Health Risk
RS2486372287
Conflicting classifications of pathogenicity
Global developmental delay with or without impaired intellectual development, Global developmental delay with or without impaired intellectual development
Health Risk
RS376833286
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS782643537
Conflicting classifications of pathogenicity
Inborn genetic diseases, Global developmental delay with or without impaired intellectual development, Inborn genetic diseases
Health Risk
RS1462658824
Likely pathogenic
Global developmental delay with or without impaired intellectual development, Global developmental delay with or without impaired intellectual development
Health Risk
RS1554519798
Likely pathogenic
Global developmental delay with or without impaired intellectual development, Global developmental delay with or without impaired intellectual development
Health Risk
RS1562875556
Likely pathogenic
Global developmental delay with or without impaired intellectual development, Global developmental delay with or without impaired intellectual development
Health Risk
All Variants (45)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1320387840 | Health Risk | Conflicting classifications of pathogenicity | Global developmental delay with or without impaired intellectual development, Global developmental delay with or without impaired intellectual development |
| RS1340914824 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1346551173 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1349024125 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Global developmental delay with or without impaired intellectual development, Inborn genetic diseases |
| RS1464914318 | Health Risk | Conflicting classifications of pathogenicity | Global developmental delay with or without impaired intellectual development, Inborn genetic diseases, Global developmental delay with or without impaired intellectual development |
| RS1791729069 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, Global developmental delay with or without impaired intellectual development, Intellectual disability |
| RS2486372287 | Health Risk | Conflicting classifications of pathogenicity | Global developmental delay with or without impaired intellectual development, Global developmental delay with or without impaired intellectual development |
| RS376833286 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS782643537 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Global developmental delay with or without impaired intellectual development, Inborn genetic diseases |
| RS1462658824 | Health Risk | Likely pathogenic | Global developmental delay with or without impaired intellectual development, Global developmental delay with or without impaired intellectual development |
| RS1554519798 | Health Risk | Likely pathogenic | Global developmental delay with or without impaired intellectual development, Global developmental delay with or without impaired intellectual development |
| RS1562875556 | Health Risk | Likely pathogenic | Global developmental delay with or without impaired intellectual development, Global developmental delay with or without impaired intellectual development |
| RS1563470335 | Health Risk | Likely pathogenic | Global developmental delay with or without impaired intellectual development, Global developmental delay with or without impaired intellectual development |
| RS1825996355 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2130987702 | Health Risk | Likely pathogenic | Global developmental delay with or without impaired intellectual development, Global developmental delay with or without impaired intellectual development |
| RS2131685158 | Health Risk | Likely pathogenic | Global developmental delay with or without impaired intellectual development, Global developmental delay with or without impaired intellectual development |
| RS2132065095 | Health Risk | Likely pathogenic | Global developmental delay with or without impaired intellectual development, Global developmental delay with or without impaired intellectual development |
| RS2485005931 | Health Risk | Likely pathogenic | Global developmental delay with or without impaired intellectual development, Global developmental delay with or without impaired intellectual development |
| RS2485166999 | Health Risk | Likely pathogenic | Global developmental delay with or without impaired intellectual development, Global developmental delay with or without impaired intellectual development |
| RS2485334624 | Health Risk | Likely pathogenic | — |
| RS2485473836 | Health Risk | Likely pathogenic | CUX1-related disorder, CUX1-related disorder |
| RS2485475379 | Health Risk | Likely pathogenic | Global developmental delay with or without impaired intellectual development, Global developmental delay with or without impaired intellectual development |
| RS2485518349 | Health Risk | Likely pathogenic | CUX1-related disorder, CUX1-related disorder |
| RS2485982699 | Health Risk | Likely pathogenic | — |
| RS2486092738 | Health Risk | Likely pathogenic | Global developmental delay with or without impaired intellectual development, Global developmental delay with or without impaired intellectual development |
| RS2486191761 | Health Risk | Likely pathogenic | Global developmental delay with or without impaired intellectual development, Global developmental delay with or without impaired intellectual development |
| RS2486192113 | Health Risk | Likely pathogenic | Global developmental delay with or without impaired intellectual development, Global developmental delay with or without impaired intellectual development |
| RS2486789520 | Health Risk | Likely pathogenic | Global developmental delay with or without impaired intellectual development, Global developmental delay with or without impaired intellectual development |
| RS782238335 | Health Risk | Likely pathogenic | Global developmental delay with or without impaired intellectual development, Global developmental delay with or without impaired intellectual development |
| RS1369945414 | Health Risk | Pathogenic | — |
| RS1586067642 | Health Risk | Pathogenic | Global developmental delay with or without impaired intellectual development, Global developmental delay with or without impaired intellectual development |
| RS1794867368 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1794879475 | Health Risk | Pathogenic | Neurodevelopmental disorder, Neurodevelopmental disorder |
| RS2131985466 | Health Risk | Pathogenic | Global developmental delay with or without impaired intellectual development, Global developmental delay with or without impaired intellectual development |
| RS2485343245 | Health Risk | Pathogenic | Global developmental delay with or without impaired intellectual development, Global developmental delay with or without impaired intellectual development |
| RS2485417977 | Health Risk | Pathogenic | Global developmental delay with or without impaired intellectual development, Global developmental delay with or without impaired intellectual development |
| RS2486093867 | Health Risk | Pathogenic | Global developmental delay with or without impaired intellectual development, Global developmental delay with or without impaired intellectual development |
| RS2486093998 | Health Risk | Pathogenic | Global developmental delay with or without impaired intellectual development, Global developmental delay with or without impaired intellectual development |
| RS2486189969 | Health Risk | Pathogenic | — |
| RS2536316406 | Health Risk | Pathogenic | Global developmental delay with or without impaired intellectual development, Global developmental delay with or without impaired intellectual development |
| RS2536825046 | Health Risk | Pathogenic | Global developmental delay with or without impaired intellectual development, Global developmental delay with or without impaired intellectual development |
| RS1563398977 | Health Risk | Pathogenic/Likely pathogenic | Global developmental delay with or without impaired intellectual development, Global developmental delay with or without impaired intellectual development |
| RS1563446668 | Health Risk | Pathogenic/Likely pathogenic | Global developmental delay with or without impaired intellectual development, Global developmental delay with or without impaired intellectual development |
| RS2131983329 | Health Risk | Pathogenic/Likely pathogenic | Neurodevelopmental disorder, Global developmental delay with or without impaired intellectual development, Neurodevelopmental disorder |
| RS372708324 | Health Risk | Pathogenic/Likely pathogenic | Global developmental delay with or without impaired intellectual development, Global developmental delay with or without impaired intellectual development |