CPEB1-AS1

CPEB1 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 15:82647770-82692820

Links

ENSG00000259462 ∙ NCBI:283692 ∙ ∙ HGNC:27523 ∙ ∙ ∙ 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 CPEB1-AS1 gene.

• not provided (588 variants)
• Inborn genetic diseases (44 variants)
• Developmental and epileptic encephalopathy, 48 (31 variants)
• Epileptic encephalopathy (2 variants)
• not specified (1 variants)
• 10 conditions (1 variants)
• Microcephaly (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CPEB1-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	19	15	300	270	19	623
Total	19	15	300	270	19

Highest pathogenic variant AF is 0.0000131

Variants in CPEB1-AS1

This is a list of pathogenic ClinVar variants found in the CPEB1-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
15-82647861-G-A		not specified	Uncertain significance (Jul 09, 2021)
15-82647863-A-G		not specified	Uncertain significance (Aug 02, 2022)
15-82659466-T-G			Uncertain significance (Dec 01, 2022)
15-82659567-G-A		Inborn genetic diseases	Uncertain significance (Jul 06, 2023)
15-82659567-G-C			Uncertain significance (Jul 21, 2022)
15-82659573-G-T		Developmental and epileptic encephalopathy, 48	Uncertain significance (Sep 27, 2022)
15-82659579-A-G			Uncertain significance (Jun 03, 2022)
15-82659583-C-G			Uncertain significance (Jan 02, 2022)
15-82659585-TC-T			Uncertain significance (Mar 26, 2021)
15-82659593-C-A			Likely benign (Dec 22, 2021)
15-82659593-C-T			Likely benign (May 30, 2023)
15-82659599-G-A			Likely benign (Nov 27, 2023)
15-82659599-G-C			Likely benign (Jan 18, 2024)
15-82659602-G-A			Likely benign (Nov 27, 2023)
15-82659612-A-G			Uncertain significance (Apr 15, 2022)
15-82659619-C-T			Uncertain significance (Jun 30, 2022)
15-82659620-G-A			Likely benign (Dec 06, 2023)
15-82659624-T-C			Uncertain significance (May 03, 2021)
15-82659626-G-T			Likely benign (Jan 03, 2022)
15-82659627-ACAGT-A		not specified	Conflicting classifications of pathogenicity (Dec 21, 2023)
15-82659635-C-T			Likely benign (Apr 05, 2022)
15-82659636-T-C			Uncertain significance (Oct 13, 2023)
15-82659636-TGGGC-CGGGG			Uncertain significance (Oct 07, 2019)
15-82659640-C-G			Uncertain significance (Oct 13, 2023)
15-82659647-A-G			Likely benign (Oct 30, 2022)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP