CELF2-AS1

CELF2 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 10:11274391-11344799

Previous symbols: [ "C10orf31" ]

Links

ENSG00000181800 ∙ NCBI:414196 ∙ ∙ HGNC:23515 ∙ Uniprot:Q8N7Q2 ∙ AlphaFold ∙ 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 CELF2-AS1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CELF2-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						0
Total	0	0	0	0	0

Variants in CELF2-AS1

This is a list of pathogenic ClinVar variants found in the CELF2-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
10-11288418-G-T			Uncertain significance (Sep 06, 2022)
10-11288453-C-G		not specified	Uncertain significance (Sep 29, 2023)
10-11288480-A-G		not specified	Uncertain significance (May 11, 2022)
10-11288499-A-G		CELF2-related disorder	Likely benign (Jan 01, 2023)
10-11288507-CCT-C		Developmental and epileptic encephalopathy 97	Likely pathogenic (Apr 25, 2024)
10-11288543-A-T			Uncertain significance (Dec 28, 2023)
10-11288556-A-T		CELF2-related disorder	Uncertain significance (Jan 24, 2024)
10-11314137-A-T		CELF2-related disorder	Likely pathogenic (Oct 28, 2023)
10-11314165-G-A			Uncertain significance (Feb 01, 2024)
10-11321183-G-T		CELF2-related disorder	Likely benign (Feb 20, 2023)
10-11321210-T-C			Uncertain significance (Feb 23, 2022)
10-11321249-C-G			Uncertain significance (Oct 30, 2023)
10-11321317-G-A		not specified	Uncertain significance (Aug 22, 2022)
10-11325855-CTT-C			Uncertain significance (Feb 16, 2023)
10-11325893-AC-A		Developmental and epileptic encephalopathy 97	Pathogenic (May 04, 2022)
10-11328994-G-A		Developmental and epileptic encephalopathy 97	Uncertain significance (Aug 23, 2023)
10-11329003-C-G		Developmental and epileptic encephalopathy 97	Pathogenic (Nov 12, 2021)
10-11329003-C-T			Pathogenic/Likely pathogenic (Dec 20, 2023)
10-11329004-G-A		Developmental and epileptic encephalopathy 97	Pathogenic (Apr 30, 2021)
10-11329004-G-T			Pathogenic (Mar 17, 2023)
10-11329010-A-C			Uncertain significance (Apr 12, 2023)
10-11329015-C-CAGCTGA			Uncertain significance (Jan 08, 2024)
10-11329045-C-T		Developmental and epileptic encephalopathy 97	Pathogenic (Oct 06, 2021)
10-11329046-C-T		Developmental and epileptic encephalopathy 97	Uncertain significance (Mar 09, 2023)
10-11329048-T-TA		Developmental and epileptic encephalopathy 97	Pathogenic (Nov 13, 2020)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

Haploinsufficiency Scores

• pHI: 0.0354

Gene ontology

• Cellular component: extracellular region