EP300-AS1

EP300 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 22:41141367-41197520

Links

ENSG00000231993 ∙ NCBI:101927279 ∙ ∙ HGNC:50504 ∙ ∙ ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the EP300-AS1 gene.

• Rubinstein-Taybi syndrome due to EP300 haploinsufficiency (214 variants)
• not provided (176 variants)
• not specified (42 variants)
• Inborn genetic diseases (30 variants)
• EP300-related condition (26 variants)
• Rubinstein-Taybi syndrome due to CREBBP mutations (25 variants)
• Menke-Hennekam syndrome 2 (9 variants)
• Rubinstein-Taybi syndrome due to CREBBP mutations;Rubinstein-Taybi syndrome due to EP300 haploinsufficiency;Colorectal cancer;Menke-Hennekam syndrome 2 (2 variants)
• See cases (2 variants)
• Intellectual disability (2 variants)
• Rubinstein-Taybi syndrome due to EP300 haploinsufficiency;Colorectal carcinoma (2 variants)
• Carcinoma of colon (1 variants)
• EP300-related disorders (1 variants)
• Multiple congenital anomalies (1 variants)
• Colorectal cancer (1 variants)
• Menke-Hennekam syndrome 2;Colorectal cancer;Rubinstein-Taybi syndrome due to CREBBP mutations;Rubinstein-Taybi syndrome due to EP300 haploinsufficiency (1 variants)
• Colorectal carcinoma;Rubinstein-Taybi syndrome due to EP300 haploinsufficiency (1 variants)
• Neurodevelopmental delay (1 variants)
• Colorectal cancer;Rubinstein-Taybi syndrome due to EP300 haploinsufficiency (1 variants)
• Rubinstein-Taybi syndrome due to EP300 haploinsufficiency;Rubinstein-Taybi syndrome (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the EP300-AS1 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense						0
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding	28	30	176	141	44	419
Total	28	30	176	141	44

Variants in EP300-AS1

This is a list of pathogenic ClinVar variants found in the EP300-AS1 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
22-41146720-T-C		Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	Likely benign (Jul 30, 2022)
22-41146723-C-T		Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	Likely benign (Oct 03, 2023)
22-41146736-T-C		Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	Benign/Likely benign (Aug 04, 2023)
22-41146745-C-T			Uncertain significance (Jun 13, 2024)
22-41146747-C-T		EP300-related disorder	Likely benign (Jun 20, 2018)
22-41146748-TA-T			Pathogenic (Nov 25, 2018)
22-41146748-T-TA		Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	Likely pathogenic (Jul 10, 2019)
22-41146749-A-G		not specified • EP300-related disorder • Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	Benign/Likely benign (Nov 01, 2024)
22-41146751-C-G			Uncertain significance (May 26, 2022)
22-41146752-T-C		Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	Likely benign (Sep 07, 2022)
22-41146762-A-G		Rubinstein-Taybi syndrome due to EP300 haploinsufficiency • EP300-related disorder • Inborn genetic diseases	Benign/Likely benign (Aug 19, 2023)
22-41146763-T-C		Rubinstein-Taybi syndrome due to EP300 haploinsufficiency • EP300-related disorder	Uncertain significance (Dec 25, 2022)
22-41146768-C-T		EP300-related disorder	Uncertain significance (Aug 18, 2022)
22-41146776-T-G		not specified • Intellectual disability • Rubinstein-Taybi syndrome due to CREBBP mutations • Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	Benign/Likely benign (Sep 01, 2024)
22-41146778-T-C		Inborn genetic diseases • Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	Conflicting classifications of pathogenicity (Dec 18, 2023)
22-41146787-A-T			Uncertain significance (Jul 06, 2022)
22-41146789-A-G		Rubinstein-Taybi syndrome due to EP300 haploinsufficiency • Inborn genetic diseases • EP300-related disorder	Uncertain significance (May 10, 2024)
22-41146795-C-T		Rubinstein-Taybi syndrome due to EP300 haploinsufficiency • EP300-related disorder	Benign/Likely benign (Dec 19, 2023)
22-41146798-C-G			Uncertain significance (Nov 07, 2022)
22-41146807-C-A		Rubinstein-Taybi syndrome due to EP300 haploinsufficiency • EP300-related disorder	Uncertain significance (May 17, 2022)
22-41146807-C-G		Inborn genetic diseases	Uncertain significance (Oct 04, 2024)
22-41146812-A-G		EP300-related disorder	Likely benign (Aug 16, 2022)
22-41146815-T-G		EP300-related disorder	Likely benign (Apr 23, 2024)
22-41146833-A-T		Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	Benign/Likely benign (Jan 29, 2024)
22-41146833-A-AT		Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	Benign (Jan 07, 2024)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP