SET Chromosome 9
SET nuclear proto-oncogene
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What This Gene Does
The protein encoded by this gene inhibits acetylation of nucleosomes, especially histone H4, by histone acetylases (HAT). This inhibition is most likely accomplished by masking histone lysines from being acetylated, and the consequence is to silence HAT-dependent transcription. The encoded protein is part of a complex localized to the endoplasmic reticulum but is found in the nucleus and inhibits apoptosis following attack by cytotoxic T lymphocytes. This protein can also enhance DNA replication of the adenovirus genome. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]
Gene Info
Gene Group
"INHAT complex|SET complex|Nucleosome assembly protein superfamily"
Locus Type
gene with protein product
Location
9q34.11
Ensembl
ENSG00000119335
Associated Conditions (5)
Intellectual disability
autosomal dominant 58
Inborn genetic diseases
Global developmental delay
SET-related disorder
Key Variants
RS1564360978
Likely pathogenic
Intellectual disability, autosomal dominant 58, Intellectual disability
Health Risk
RS1861551472
Likely pathogenic
Health Risk
RS1861551788
Likely pathogenic
Health Risk
RS1861593395
Likely pathogenic
Intellectual disability, autosomal dominant 58, Intellectual disability
Health Risk
RS1861625938
Likely pathogenic
Intellectual disability, autosomal dominant 58, Intellectual disability
Health Risk
RS2132251312
Likely pathogenic
Health Risk
RS2490430337
Likely pathogenic
Intellectual disability, autosomal dominant 58, Intellectual disability
Health Risk
RS2490433063
Likely pathogenic
Intellectual disability, autosomal dominant 58, Intellectual disability
Health Risk
RS2523226839
Likely pathogenic
Intellectual disability, autosomal dominant 58, Intellectual disability
Health Risk
RS1554776933
Pathogenic
Intellectual disability, autosomal dominant 58, Intellectual disability
Health Risk
RS1554776938
Pathogenic
Intellectual disability, autosomal dominant 58, Intellectual disability
Health Risk
RS1589457762
Pathogenic
Intellectual disability, autosomal dominant 58, Intellectual disability
Health Risk
All Variants (22)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1564360978 | Health Risk | Likely pathogenic | Intellectual disability, autosomal dominant 58, Intellectual disability |
| RS1861551472 | Health Risk | Likely pathogenic | — |
| RS1861551788 | Health Risk | Likely pathogenic | — |
| RS1861593395 | Health Risk | Likely pathogenic | Intellectual disability, autosomal dominant 58, Intellectual disability |
| RS1861625938 | Health Risk | Likely pathogenic | Intellectual disability, autosomal dominant 58, Intellectual disability |
| RS2132251312 | Health Risk | Likely pathogenic | — |
| RS2490430337 | Health Risk | Likely pathogenic | Intellectual disability, autosomal dominant 58, Intellectual disability |
| RS2490433063 | Health Risk | Likely pathogenic | Intellectual disability, autosomal dominant 58, Intellectual disability |
| RS2523226839 | Health Risk | Likely pathogenic | Intellectual disability, autosomal dominant 58, Intellectual disability |
| RS1554776933 | Health Risk | Pathogenic | Intellectual disability, autosomal dominant 58, Intellectual disability |
| RS1554776938 | Health Risk | Pathogenic | Intellectual disability, autosomal dominant 58, Intellectual disability |
| RS1589457762 | Health Risk | Pathogenic | Intellectual disability, autosomal dominant 58, Intellectual disability |
| RS1589458772 | Health Risk | Pathogenic | — |
| RS1589460606 | Health Risk | Pathogenic | Intellectual disability, autosomal dominant 58, Intellectual disability |
| RS1861627066 | Health Risk | Pathogenic | — |
| RS1861628072 | Health Risk | Pathogenic | Intellectual disability, autosomal dominant 58, Intellectual disability |
| RS2490437438 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2490437540 | Health Risk | Pathogenic | — |
| RS2490440303 | Health Risk | Pathogenic | — |
| RS764645296 | Health Risk | Pathogenic | Intellectual disability, autosomal dominant 58, Intellectual disability |
| RS1554776342 | Health Risk | Pathogenic/Likely pathogenic | Inborn genetic diseases, Intellectual disability, autosomal dominant 58 |
| RS1554776500 | Health Risk | Pathogenic/Likely pathogenic | Intellectual disability, autosomal dominant 58, Intellectual disability |