HomeAboutRankingsData Sources
Β© 2026 GeneE
🧬
GeneE
26 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
TRRAP
transformation/transcription domain associated protein
Chromosome 7 Β· 7q22.1
NCBI Gene: 8295Ensembl: ENSG00000196367.15HGNC: HGNC:12347UniProt: H0Y4W2
218PubMed Papers
22Diseases
0Drugs
31Pathogenic Variants
FUNCTIONAL ROLE
Highly ConstrainedHub GeneKinaseTranscription Factor
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
transcription factor TFTC complextranscription coregulator activityprotein bindingregulation of transcription by RNA polymerase IIdevelopmental delay with or without dysmorphic facies and autismneurodegenerative diseasehearing loss, autosomal dominant 75Global developmental delay
✦AI Summary

TRRAP (transformation/transcription domain-associated protein) is a critical scaffold protein within histone acetyltransferase (HAT) complexes that orchestrates epigenetic transcription activation. As a component of the NuA4/TIP60 complex, TRRAP facilitates acetylation of nucleosomal histones H4 and H2A, enabling transcription activation 1. TRRAP serves as an adaptor linking transcription factorsβ€”including MYC, E2F1, E2F4, p53, and Sp1β€”to HAT complexes, thereby promoting their target gene expression 2. Additionally, TRRAP participates in the SWR1-like complex mediating histone H2A.Z removal from nucleosomes 3. In human neural stem cells, TRRAP cooperates with the chr7 remodeler CHD8 to regulate MYC and E2F target genes critical for cell-cycle progression 4. Pathogenic missense variants in TRRAP cause two distinct clinical spectra with strong genotype-phenotype correlation: a complex multi-systemic syndrome with brain, cardiac, and renal malformations, and autism spectrum disorder (ASD) with intellectual disability and epilepsy 5. TRRAP's intolerance to missense variation reflects its essential role in transcriptional regulation and cellular processes. Loss of TRRAP function leads to mislocalization of the NuA4/TIP60 complex and genome-wide redistribution of histone acetylation patterns 1, disrupting normal gene expression programs essential for neural development and function.

Sources cited
1
TRRAP pathogenic missense variants cause autism spectrum disorder and intellectual disability with specific genotype-phenotype correlation; RNA-seq analysis shows changes in neuronal function genes
PMID: 30827496
2
TRRAP is a subunit of NuA4/TIP60 complex; loss of TRRAP leads to mislocalization of the complex and redistribution of H2A.Z acetylation across the genome
PMID: 39088653
3
TRRAP functions as an adaptor protein for HAT complexes and scaffold for transcription factors including E2F1, c-Myc, p53, and Sp1
PMID: 34830324
4
CHD8-TRRAP axis regulates MYC and E2F target genes in human neural stem cells; TRRAP depletion causes downregulation of MYC/E2F target genes and reduced cell-cycle progression
PMID: 40104050
5
TRRAP is part of three-lobed architecture of TIP60-C complex with SWR1-like and NuA4-like modules; flexibly tethered to NuA4L for nucleosome binding and histone exchange
PMID: 39260417
6
TRRAP module within TIP60 complex is flexibly tethered to core subcomplex; involved in histone acetylation and H2A.Z exchange activities
PMID: 39154037
Disease Associationsβ“˜22
developmental delay with or without dysmorphic facies and autismOpen Targets
0.82Strong
neurodegenerative diseaseOpen Targets
0.55Moderate
hearing loss, autosomal dominant 75Open Targets
0.53Moderate
Global developmental delayOpen Targets
0.49Moderate
genetic disorderOpen Targets
0.45Moderate
urinary bladder cancerOpen Targets
0.44Moderate
melanomaOpen Targets
0.43Moderate
microcephalyOpen Targets
0.42Moderate
autismOpen Targets
0.42Moderate
Intellectual disabilityOpen Targets
0.42Moderate
Abnormal heart morphologyOpen Targets
0.42Moderate
Abnormality of the urinary systemOpen Targets
0.42Moderate
SeizureOpen Targets
0.42Moderate
complex neurodevelopmental disorder with or without congenital anomaliesOpen Targets
0.40Weak
urinary bladder carcinomaOpen Targets
0.37Weak
autosomal dominant nonsyndromic hearing lossOpen Targets
0.37Weak
gastric adenocarcinomaOpen Targets
0.37Weak
colorectal adenocarcinomaOpen Targets
0.37Weak
Merkel cell skin cancerOpen Targets
0.37Weak
lung carcinomaOpen Targets
0.37Weak
Deafness, autosomal dominant, 75UniProt
Developmental delay with or without dysmorphic facies and autismUniProt
Pathogenic Variants31
NM_001375524.1(TRRAP):c.3104G>A (p.Arg1035Gln)Pathogenic
Developmental delay with or without dysmorphic facies and autism|not provided
β˜…β˜…β˜†β˜†2026β†’ Residue 1035
NM_001375524.1(TRRAP):c.3311A>G (p.Glu1104Gly)Pathogenic
Developmental delay with or without dysmorphic facies and autism|not provided|Inborn genetic diseases
β˜…β˜…β˜†β˜†2025β†’ Residue 1104
NM_001375524.1(TRRAP):c.3088G>A (p.Val1030Ile)Likely pathogenic
not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 1030
NM_001375524.1(TRRAP):c.9952A>G (p.Met3318Val)Pathogenic
Developmental delay with or without dysmorphic facies and autism|Developmental delay with or without dysmorphic facies and autism;Hearing loss, autosomal dominant 75|Inborn genetic diseases
β˜…β˜…β˜†β˜†2024β†’ Residue 3318
NM_001375524.1(TRRAP):c.3081_3087delinsTAAGGC (p.Met1027fs)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 1027
NM_001375524.1(TRRAP):c.10753G>T (p.Val3585Leu)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 3585
NM_001375524.1(TRRAP):c.8734G>T (p.Glu2912Ter)Likely pathogenic
Developmental delay with or without dysmorphic facies and autism
β˜…β˜†β˜†β˜†2024β†’ Residue 2912
NM_001375524.1(TRRAP):c.310G>T (p.Glu104Ter)Likely pathogenic
Developmental delay with or without dysmorphic facies and autism
β˜…β˜†β˜†β˜†2024β†’ Residue 104
NM_001375524.1(TRRAP):c.5852A>G (p.His1951Arg)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 1951
NM_001375524.1(TRRAP):c.6356_6358del (p.Thr2119del)Likely pathogenic
Developmental delay with or without dysmorphic facies and autism
β˜…β˜†β˜†β˜†2024β†’ Residue 2119
NM_001375524.1(TRRAP):c.7219A>G (p.Met2407Val)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 2407
NM_001375524.1(TRRAP):c.5816C>T (p.Pro1939Leu)Likely pathogenic
Developmental delay with or without dysmorphic facies and autism
β˜…β˜†β˜†β˜†2023β†’ Residue 1939
NM_001375524.1(TRRAP):c.5722G>A (p.Val1908Ile)Likely pathogenic
See cases
β˜…β˜†β˜†β˜†2023β†’ Residue 1908
NM_001375524.1(TRRAP):c.3874C>A (p.Pro1292Thr)Likely pathogenic
Developmental delay with or without dysmorphic facies and autism
β˜…β˜†β˜†β˜†2022β†’ Residue 1292
NM_001375524.1(TRRAP):c.5596C>T (p.Arg1866Cys)Likely pathogenic
Developmental delay with or without dysmorphic facies and autism|not provided
β˜…β˜†β˜†β˜†2022β†’ Residue 1866
NM_001375524.1(TRRAP):c.1813-52T>ALikely pathogenic
Developmental delay with or without dysmorphic facies and autism
β˜…β˜†β˜†β˜†2022
NM_001375524.1(TRRAP):c.3479G>T (p.Gly1160Val)Likely pathogenic
Developmental delay with or without dysmorphic facies and autism
β˜…β˜†β˜†β˜†2022β†’ Residue 1160
NM_001375524.1(TRRAP):c.3199C>T (p.Gln1067Ter)Likely pathogenic
Developmental delay with or without dysmorphic facies and autism
β˜…β˜†β˜†β˜†2022β†’ Residue 1067
NM_001375524.1(TRRAP):c.9911C>T (p.Pro3304Leu)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2021β†’ Residue 3304
NM_001375524.1(TRRAP):c.3093T>G (p.Ile1031Met)Likely pathogenic
TRRAP-related neurodevelopmental disorder
β˜…β˜†β˜†β˜†2021β†’ Residue 1031
View on ClinVar β†—
Related Genes
DR1Protein interaction100%E2F1Protein interaction100%KAT2AProtein interaction100%MYCProtein interaction100%SARS1Protein interaction100%ATXN7Protein interaction100%
Tissue Expression6 tissues
Bone Marrow
100%
Ovary
58%
Brain
52%
Lung
38%
Heart
38%
Liver
34%
Gene Interaction Network
Click a node to explore
TRRAPDR1E2F1KAT2AMYCSARS1ATXN7
PROTEIN STRUCTURE
Preparing viewer…
PDB9CAF Β· 2.35 Γ… Β· EM
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.12Highly Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.09 [0.07–0.12]
RankingsWhere TRRAP stands among ~20K protein-coding genes
  • #1,904of 20,598
    Most Researched218 Β· top 10%
  • #1,777of 5,498
    Most Pathogenic Variants31
  • #98of 17,882
    Most Constrained (LOEUF)0.12 Β· top 1%
Genes detectedTRRAP
Sources retrieved26 papers
Response timeβ€”
πŸ“„ Sources
26β–Ό
1
Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability.
PMID: 30827496
Am J Hum Genet Β· 2019
1.00
2
Exploiting the mutanome for tumor vaccination.
PMID: 22237626
Cancer Res Β· 2012
0.90
3
A CHD8-TRRAP axis facilitates MYC and E2F target gene regulation in human neural stem cells.
PMID: 40104050
iScience Β· 2025
0.80
4
A druggable conformational switch in the c-MYC transactivation domain.
PMID: 38424045
Nat Commun Β· 2024
0.72
5
Structure of the human TIP60 complex.
PMID: 39154037
Nat Commun Β· 2024
0.70