TRRAP transformation/transcription domain associated protein

Gene ID: 8295, updated on 19-Sep-2024
Gene type: protein coding
Also known as: Tra1; TR-AP; DEDDFA; DFNA75; PAF400; STAF40; PAF350/400

Summary

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]

Associated conditions

See all available tests in GTR for this gene

Description	Tests
Developmental delay with or without dysmorphic facies and autism MedGen: C5193106OMIM: 618454GeneReviews: Not available	See labs
Hearing loss, autosomal dominant 75 MedGen: C5394059OMIM: 618778GeneReviews: Not available	See labs

Copy number response

Description
Copy number response Triplosensitivity No evidence available (Last evaluated 2019-04-24) ClinGen Genome Curation Page Haploinsufficency Little evidence for dosage pathogenicity (Last evaluated 2019-04-24) ClinGen Genome Curation PagePubMed

Genomic context

Location:: 7q22.1

Sequence:: Chromosome: 7; NC_000007.14 (98878532..99013241)

Total number of exons:: 73

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Variation

Resource	Links for this gene
ClinVar	Variants reported to ClinVar
dbVar	Studies and variants
SNP	Variation Viewer for TRRAP variants
Genome viewer	Explore NCBI-annotated and select non-NCBI annotated genome assemblies

Links

ClinVar
Related medical variations
dbVar
Link from Gene to dbVar
MedGen
Related information in MedGen
OMIM
Link to related OMIM entry
PubMed (OMIM)
Gene links to PubMed derived from omim_pubmed_cited links
RefSeq RNAs
Link to Nucleotide RefSeq RNAs
RefSeqGene
Link to Nucleotide RefSeqGenes
Variation Viewer
Related Variants

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