ADORA2A-AS1

ADORA2A antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 22:24429206-24495074

Previous symbols: [ "C22orf45" ]

Links

ENSG00000178803 ∙ NCBI:646023 ∙ ∙ HGNC:37122 ∙ Uniprot:P86434 ∙ 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 ADORA2A-AS1 gene.

• Inborn genetic diseases (14 variants)
• not provided (6 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ADORA2A-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			14	1	5	20
Total	0	0	14	1	5

Variants in ADORA2A-AS1

This is a list of pathogenic ClinVar variants found in the ADORA2A-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
22-24433427-T-C		not specified	Uncertain significance (Mar 29, 2022)
22-24433552-G-T		not specified	Uncertain significance (Jun 06, 2023)
22-24433607-C-T		not specified	Uncertain significance (May 16, 2023)
22-24433745-G-A			Likely benign (Dec 31, 2019)
22-24440602-G-A		not specified	Uncertain significance (Aug 22, 2023)
22-24440606-C-T		not specified	Uncertain significance (Aug 30, 2021)
22-24440641-C-G		not specified	Uncertain significance (Mar 14, 2023)
22-24440674-G-A		not specified	Uncertain significance (Jan 31, 2022)
22-24440682-C-T			Benign (Apr 09, 2018)
22-24440689-G-A			Benign (Jul 13, 2018)
22-24440693-A-G		not specified	Uncertain significance (May 26, 2024)
22-24440728-G-A		not specified	Uncertain significance (Dec 13, 2023)
22-24440837-T-C		not specified	Uncertain significance (Sep 30, 2021)
22-24440961-C-A			Benign (Jul 13, 2018)
22-24441001-A-T		not specified	Uncertain significance (Apr 27, 2022)
22-24441119-A-T		not specified	Uncertain significance (Sep 01, 2021)
22-24441121-C-T		not specified	Uncertain significance (Mar 07, 2024)
22-24441135-C-T			Benign (Aug 14, 2018)
22-24441137-G-A		not specified	Uncertain significance (Jun 16, 2023)
22-24441161-G-A		not specified	Uncertain significance (Mar 04, 2024)
22-24441169-G-A		not specified	Likely benign (Dec 15, 2021)
22-24441268-G-A		not specified	Uncertain significance (May 28, 2024)
22-24441283-G-C		not specified	Uncertain significance (Apr 08, 2024)
22-24441286-T-C		not specified	Uncertain significance (Nov 17, 2022)
22-24441294-C-T			Benign (Aug 21, 2018)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

Haploinsufficiency Scores

• ghis: 0.415