EP300-AS1

Gene

EP300 antisense RNA 1, the group of Antisense RNAs

Gene summary

No gene description available in the current model. Review primary literature for detailed gene function and characteristics.

MANE transcript

N/A

Inheritance

—

ClinVar variants

—

Top phenotype

Rubinstein-Taybi syndrome due to EP300 haploinsufficiency

Max pathogenic AF

—

Genomic locus

chr22:41,141,367-41,197,520

External References & Databases

Ensembl (ENSG00000231993)

NCBI Gene (101927279)

GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to EP300-AS1 variants in ClinVar

20 Conditions Cataloged

Rubinstein-Taybi syndrome due to EP300 haploinsufficiencyTotal: 214

not providedTotal: 176

not specifiedTotal: 42

Inborn genetic diseasesTotal: 30

EP300-related conditionTotal: 26

Rubinstein-Taybi syndrome due to CREBBP mutationsTotal: 25

Menke-Hennekam syndrome 2Total: 9

Rubinstein-Taybi syndrome due to CREBBP mutations;Rubinstein-Taybi syndrome due to EP300 haploinsufficiency;Colorectal cancer;Menke-Hennekam syndrome 2Total: 2

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript . Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB
synonymous
missense
nonsense
start loss
frameshift
splice donor/acceptor (+/-2bp)
Total	0	0	0	0	0

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 0 of 0 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
No transcripts match your selected source or search query.

dbNSFP Gene Annotations

Source: dbNSFP