CORO2A

coronin 2A, the group of Coronins|WD repeat domain containing

Basic information

Region (hg38): 9:98120974-98192637

Links

ENSG00000106789 ∙ NCBI:7464 ∙ OMIM:602159 ∙ HGNC:2255 ∙ Uniprot:Q92828 ∙ 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 CORO2A gene.

• Inborn genetic diseases (25 variants)
• not provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CORO2A 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				1		1
missense			24	1		25
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	24	2	0

Variants in CORO2A

This is a list of pathogenic ClinVar variants found in the CORO2A region.

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

Position	Type	Phenotype	Significance	ClinVar
9-98124796-C-T		not specified	Uncertain significance (Nov 03, 2022)
9-98124826-T-C		not specified	Uncertain significance (May 06, 2022)
9-98126584-C-T		not specified	Likely benign (Aug 02, 2021)
9-98126609-T-G		not specified	Uncertain significance (Jun 24, 2022)
9-98126722-G-A		not specified	Uncertain significance (Oct 17, 2023)
9-98126815-G-C		not specified	Uncertain significance (Jul 26, 2022)
9-98128236-A-G		not specified	Uncertain significance (Jan 18, 2023)
9-98128671-C-T		not specified	Uncertain significance (Aug 01, 2022)
9-98129820-C-T		not specified	Uncertain significance (Sep 22, 2021)
9-98129821-G-A		not specified	Uncertain significance (Jul 06, 2021)
9-98129847-G-C		not specified	Uncertain significance (Mar 24, 2023)
9-98129852-G-C		not specified	Uncertain significance (Dec 18, 2023)
9-98130983-T-G		not specified	Uncertain significance (Nov 07, 2022)
9-98130987-C-T		not specified	Uncertain significance (Apr 12, 2023)
9-98132208-G-A		not specified	Uncertain significance (Dec 08, 2023)
9-98132264-A-G		not specified	Uncertain significance (Jul 15, 2021)
9-98133057-C-T		not specified	Uncertain significance (Apr 20, 2023)
9-98133070-C-T		not specified	Likely benign (Dec 20, 2023)
9-98133073-G-A		not specified	Uncertain significance (May 10, 2022)
9-98133087-T-C		not specified	Uncertain significance (Dec 06, 2021)
9-98133088-T-C		not specified	Uncertain significance (Nov 09, 2021)
9-98133109-T-C		not specified	Uncertain significance (Apr 25, 2022)
9-98134813-T-C		not specified	Uncertain significance (Oct 05, 2023)
9-98134841-C-T		not specified	Uncertain significance (Oct 05, 2023)
9-98134844-C-T		not specified	Uncertain significance (Nov 30, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CORO2A	protein_coding	protein_coding	ENST00000343933	11	71666

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
3.45e-10	0.756	125677	0	71	125748	0.000282

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.755	285	323	0.882	0.0000200	3437
Missense in Polyphen		136	148.58	0.91534		1526
Synonymous	0.287	128	132	0.968	0.00000862	1025
Loss of Function	1.55	19	27.8	0.683	0.00000151	288

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000763	0.000763
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000544	0.0000544
Finnish	0.0000927	0.0000924
European (Non-Finnish)	0.000220	0.000220
Middle Eastern	0.0000544	0.0000544
South Asian	0.000560	0.000555
Other	0.000489	0.000489

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.110

Intolerance Scores

• loftool: 0.746
• rvis_EVS: -0.73
• rvis_percentile_EVS: 14.15

Haploinsufficiency Scores

• pHI: 0.153
• hipred: Y
• hipred_score: 0.715
• ghis: 0.533

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.804

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Coro2a

Gene ontology

• Biological process: intracellular signal transduction
• Cellular component: transcriptional repressor complex
• Molecular function: protein binding;actin filament binding