TRRAP Chromosome 7
Transformation/transcription domain associated protein
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What This Gene Does
This gene encodes a large multidomain protein of the phosphoinositide 3-kinase-related kinases (PIKK) family. The encoded protein is a common component of many histone acetyltransferase (HAT) complexes and plays a role in transcription and DNA repair by recruiting HAT complexes to chromatin. Deregulation of this gene may play a role in several types of cancer including glioblastoma multiforme. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Sep 2011]
Gene Info
Gene Group
"SAGA complex|Armadillo like helical domain containing|Tip60/Nua4 histone acetyltransferase complex subunits|MicroRNA protein coding host genes|Phosphatidylinositol 3-kinase-related kinase family"
Locus Type
gene with protein product
Location
7q22.1
Ensembl
ENSG00000196367
Associated Conditions (12)
See cases
TRRAP-related disorder
Developmental delay with or without dysmorphic facies and autism
Inborn genetic diseases
Developmental disorder
TRAPP-associated developmental delay
Hearing loss
autosomal dominant 75
Hepatocellular carcinoma
TRRAP-related neurodevelopmental disorder
Neurodevelopmental disorder
Global developmental delay
Key Variants
RS1028234458
Conflicting classifications of pathogenicity
Health Risk
RS113339948
Conflicting classifications of pathogenicity
See cases, TRRAP-related disorder, See cases
Health Risk
RS1198479657
Conflicting classifications of pathogenicity
Developmental delay with or without dysmorphic facies and autism, Developmental delay with or without dysmorphic facies and autism
Health Risk
RS1298588355
Conflicting classifications of pathogenicity
Developmental delay with or without dysmorphic facies and autism, Developmental delay with or without dysmorphic facies and autism
Health Risk
RS1302611253
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1333016292
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1360401833
Conflicting classifications of pathogenicity
Health Risk
RS138013956
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1383645357
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS139426093
Conflicting classifications of pathogenicity
Developmental disorder, Developmental disorder
Health Risk
RS140534199
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS141155552
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
All Variants (101)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2116495143 | Health Risk | Pathogenic/Likely pathogenic | Developmental delay with or without dysmorphic facies and autism, Developmental delay with or without dysmorphic facies and autism |