CORO6

coronin 6, the group of WD repeat domain containing|Coronins

Basic information

Region (hg38): 17:29614756-29622912

Links

ENSG00000167549 ∙ NCBI:84940 ∙ ∙ HGNC:21356 ∙ Uniprot:Q6QEF8 ∙ 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 CORO6 gene.

• not_specified (73 variants)
• Breast_ductal_adenocarcinoma (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CORO6 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000032854.4. 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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			72	2		74
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	72	2	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CORO6	protein_coding	protein_coding	ENST00000345068	10	8152

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
7.16e-7	0.905	125681	1	66	125748	0.000266

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.449	273	295	0.926	0.0000168	3087
Missense in Polyphen		95	112.63	0.84344		1131
Synonymous	1.30	102	120	0.849	0.00000731	926
Loss of Function	1.67	13	21.3	0.610	0.00000104	227

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000461	0.000447
Ashkenazi Jewish	0.00281	0.00268
East Asian	0.000222	0.000217
Finnish	0.0000936	0.0000924
European (Non-Finnish)	0.000107	0.000105
Middle Eastern	0.000222	0.000217
South Asian	0.000196	0.000196
Other	0.000660	0.000652

dbNSFP

Source: dbNSFP

Intolerance Scores

• loftool: 0.670
• rvis_EVS: -0.25
• rvis_percentile_EVS: 35.75

Haploinsufficiency Scores

• pHI: 0.294
• hipred: N
• hipred_score: 0.355
• ghis: 0.555

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.192

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Coro6
• Phenotype: homeostasis/metabolism phenotype

Gene ontology

• Molecular function: protein binding