CORO7

coronin 7, the group of Coronins|WD repeat domain containing

Basic information

Region (hg38): 16:4354542-4425705

Links

ENSG00000262246 ∙ NCBI:79585 ∙ OMIM:611668 ∙ HGNC:26161 ∙ Uniprot:P57737 ∙ 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 CORO7 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CORO7 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	2
missense			4		2	6
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding			98	7	1	106
Total	0	0	102	8	4

Variants in CORO7

This is a list of pathogenic ClinVar variants found in the CORO7 region.

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

Position	Type	Phenotype	Significance	ClinVar
16-4355236-G-A		Acute megakaryoblastic leukemia;Mediastinal germ cell tumor	Uncertain significance (Oct 22, 2015)
16-4357227-G-A		not specified	Uncertain significance (Feb 16, 2023)
16-4359512-G-A			Benign (Feb 25, 2018)
16-4361058-C-T		not specified	Uncertain significance (Mar 01, 2025)
16-4364855-C-T		not specified	Uncertain significance (May 05, 2023)
16-4365013-C-T			Likely benign (Jul 01, 2022)
16-4380881-T-C		not specified	Uncertain significance (Aug 20, 2024)
16-4380938-G-C		not specified	Uncertain significance (Dec 11, 2023)
16-4380944-G-A		not specified	Uncertain significance (Jul 09, 2021)
16-4380956-G-A		not specified	Uncertain significance (Dec 28, 2023)
16-4380999-G-A		not specified	Uncertain significance (Oct 02, 2023)
16-4381008-C-A		not specified	Uncertain significance (Nov 03, 2023)
16-4381019-C-G		not specified	Uncertain significance (Sep 03, 2024)
16-4381025-G-A		not specified	Uncertain significance (Aug 04, 2024)
16-4381079-G-A		not specified	Uncertain significance (Apr 29, 2024)
16-4381130-C-A		not specified	Uncertain significance (Dec 15, 2022)
16-4381142-G-T		not specified	Uncertain significance (May 26, 2024)
16-4381175-G-A		not specified	Uncertain significance (Jan 20, 2023)
16-4381179-A-T		not specified	Uncertain significance (Dec 02, 2022)
16-4381238-C-T		not specified	Uncertain significance (Oct 12, 2024)
16-4381239-G-A		not specified	Likely benign (Dec 03, 2024)
16-4381250-C-T		not specified	Uncertain significance (Jan 22, 2024)
16-4381256-G-C		not specified	Uncertain significance (Nov 08, 2022)
16-4381280-C-T		not specified	Uncertain significance (Dec 08, 2023)
16-4381286-C-T		not specified	Uncertain significance (Jul 08, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CORO7	protein_coding	protein_coding	ENST00000251166	28	71164

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.83e-25	0.0336	125454	1	293	125748	0.00117

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.194	593	580	1.02	0.0000382	5834
Missense in Polyphen		236	236.63	0.99732		2354
Synonymous	-1.07	279	257	1.08	0.0000177	1983
Loss of Function	1.44	45	56.7	0.793	0.00000316	557

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00265	0.00257
Ashkenazi Jewish	0.00231	0.00228
East Asian	0.000664	0.000653
Finnish	0.00114	0.00106
European (Non-Finnish)	0.00153	0.00150
Middle Eastern	0.000664	0.000653
South Asian	0.000544	0.000523
Other	0.000345	0.000326

dbNSFP

Source: dbNSFP

• Function: FUNCTION: F-actin regulator involved in anterograde Golgi to endosome transport: upon ubiquitination via 'Lys-33'-linked ubiquitin chains by the BCR(KLHL20) E3 ubiquitin ligase complex, interacts with EPS15 and localizes to the trans-Golgi network, where it promotes actin polymerization, thereby facilitating post- Golgi trafficking. May play a role in the maintenance of the Golgi apparatus morphology. {ECO:0000269|PubMed:16905771, ECO:0000269|PubMed:24768539}.

Intolerance Scores

• loftool: 0.890
• rvis_EVS: 0.12
• rvis_percentile_EVS: 62.4

Haploinsufficiency Scores

• pHI: 0.103
• hipred: N
• hipred_score: 0.488
• ghis: 0.403

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.904

Mouse Genome Informatics

• Gene name: Coro7
• Phenotype: cellular phenotype; homeostasis/metabolism phenotype

Gene ontology

• Biological process: Golgi to endosome transport;protein transport;actin filament polymerization
• Cellular component: Golgi membrane;Golgi apparatus;trans-Golgi network;cytosol;membrane;integral component of membrane;cytoplasmic vesicle
• Molecular function: actin binding;protein binding