Rubinstein-Taybi syndrome due to EP300 haploinsufficiency: genes and variants

Genes linked to Rubinstein-Taybi syndrome due to EP300 haploinsufficiency

• EP300: Histone acetyltransferase p300

  It acetylates histones and transcription factors and acts as a central coactivator for developmental and stress-responsive transcription. Germline loss-of-function variants cause Rubinstein-Taybi syndrome type 2, while acquired alterations occur in several cancers.

  17 disease-causing and 404 uncertain variants in EP300 are linked to Rubinstein-Taybi syndrome due to EP300 haploinsufficiency.

Where Rubinstein-Taybi syndrome due to EP300 haploinsufficiency variants cluster

• EP300 CBP/p300-type HAT (positions 1287–1663): 10 of 17 disease-causing changes, 3.8× more than its size predicts.
• EP300 Binding region for E1A adenovirus (positions 1572–1818): 3 of 17 disease-causing changes, 1.7× more than its size predicts.

Known disease-causing variants in Rubinstein-Taybi syndrome due to EP300 haploinsufficiency

Which prediction tools work for Rubinstein-Taybi syndrome due to EP300 haploinsufficiency

How often each tool ranks a disease-causing variant above a harmless one (AUROC × 100).

• CATVariant: 95 out of 100 (learned from overlapping clinical labels, so this is optimistic)
• PolyPhen-2: 92 out of 100 (learned from overlapping clinical labels, so this is optimistic)

Same protein, different disease

• Menke-Hennekam syndrome is also caused by EP300 variants; they fall mostly in different places as the Rubinstein-Taybi syndrome due to EP300 haploinsufficiency variants (4 disease-causing).

Diseases related to Rubinstein-Taybi syndrome due to EP300 haploinsufficiency

• Rubinstein-Taybi syndrome due to CREBBP mutations, also linked to EP300
• Colorectal cancer, also linked to EP300
• Menke-Hennekam syndrome, also linked to EP300
• Rubinstein-Taybi syndrome, also linked to EP300
• Carcinoma of colon, also linked to EP300
• Rare genetic intellectual disability, also linked to EP300

Frequently asked questions

Which genes are linked to Rubinstein-Taybi syndrome due to EP300 haploinsufficiency?

In CATVariant, Rubinstein-Taybi syndrome due to EP300 haploinsufficiency is linked to 1 analyzed protein: EP300 (Histone acetyltransferase p300).

How many genetic variants are linked to Rubinstein-Taybi syndrome due to EP300 haploinsufficiency?

666 variants: 17 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 404 are of uncertain significance or have conflicting reports.

Which uncertain variants in Rubinstein-Taybi syndrome due to EP300 haploinsufficiency look disease-causing?

None of the uncertain variants currently reaches the likely-pathogenic range on computable evidence alone.

About this data

Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from the latest public CATVariant analysis of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.

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