GeneBe

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.

  • not_specified (162 variants)
  • not_provided (4 variants)
  • Mediastinal_germ_cell_tumor (1 variants)
  • Acute_megakaryoblastic_leukemia (1 variants)

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. These statistics are base on transcript: NM_000024535.5. Only rare variants are included in the table.

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.

EffectPLPVUSLBBSum
synonymous
1
clinvar
1
clinvar
 2
missense
12
clinvar
1
clinvar
 13
nonsense
0
start loss
0
frameshift
0
splice donor/acceptor (+/-2bp)
0
Total 0 0 12 1 2
Loading clinvar variants...

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
CORO7protein_codingprotein_codingENST00000251166 2871164
pLI Probability
LOF Intolerant 		pRec Probability
LOF Recessive 		Individuals with
no LOFs 		Individuals with
Homozygous LOFs 		Individuals with
Heterozygous LOFs 		Defined p
1.83e-250.033612545412931257480.00117
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense-0.1945935801.020.00003825834
Missense in Polyphen236236.630.997322354
Synonymous-1.072792571.080.00001771983
Loss of Function1.444556.70.7930.00000316557

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.002650.00257
Ashkenazi Jewish0.002310.00228
East Asian0.0006640.000653
Finnish0.001140.00106
European (Non-Finnish)0.001530.00150
Middle Eastern0.0006640.000653
South Asian0.0005440.000523
Other0.0003450.000326

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