CORO1C

coronin 1C, the group of WD repeat domain containing|Coronins

Basic information

Region (hg38): 12:108645108-108731526

Links

ENSG00000110880 ∙ NCBI:23603 ∙ OMIM:605269 ∙ HGNC:2254 ∙ Uniprot:Q9ULV4 ∙ 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 CORO1C gene.

• Inborn genetic diseases (6 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CORO1C 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			6			6
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	6	0	0

Variants in CORO1C

This is a list of pathogenic ClinVar variants found in the CORO1C region.

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

Position	Type	Phenotype	Significance	ClinVar
12-108647457-A-C		not specified	Uncertain significance (Nov 09, 2023)
12-108648607-C-T		not specified	Uncertain significance (Jan 29, 2024)
12-108648647-G-T		not specified	Uncertain significance (Oct 16, 2023)
12-108648693-T-C		not specified	Uncertain significance (Dec 27, 2023)
12-108648782-C-G		not specified	Uncertain significance (Aug 08, 2023)
12-108652374-G-A		not specified	Uncertain significance (Nov 30, 2021)
12-108658818-G-A		not specified	Uncertain significance (Jul 30, 2023)
12-108662140-T-C		not specified	Uncertain significance (Apr 06, 2023)
12-108678351-G-C		not specified	Uncertain significance (Dec 11, 2023)
12-108701237-G-A		not specified	Uncertain significance (Oct 12, 2022)
12-108701260-T-C		not specified	Uncertain significance (Jan 10, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CORO1C	protein_coding	protein_coding	ENST00000261401	10	86488

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.998	0.00187	125656	0	2	125658	0.00000796

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.33	171	281	0.608	0.0000156	3176
Missense in Polyphen		48	119.09	0.40305		1289
Synonymous	-0.275	105	101	1.03	0.00000627	869
Loss of Function	4.23	1	22.8	0.0440	0.00000121	262

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000289	0.0000289
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.00000881	0.00000880
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Plays a role in directed cell migration by regulating the activation and subcellular location of RAC1 (PubMed:25074804, PubMed:25925950). Increases the presence of activated RAC1 at the leading edge of migrating cells (PubMed:25074804, PubMed:25925950). Required for normal organization of the cytoskeleton, including the actin cytoskeleton, microtubules and the vimentin intermediate filaments. Required for normal cell proliferation, cell migration, and normal formation of lamellipodia. Required for normal distribution of mitochondria within cells (By similarity). {ECO:0000250|UniProtKB:Q9WUM4, ECO:0000269|PubMed:25074804, ECO:0000269|PubMed:25925950}.
• Pathway: miR-targeted genes in epithelium - TarBase;miR-targeted genes in leukocytes - TarBase;miR-targeted genes in lymphocytes - TarBase;miR-targeted genes in muscle cell - TarBase (Consensus)

Recessive Scores

• pRec: 0.108

Intolerance Scores

• rvis_EVS: -0.67
• rvis_percentile_EVS: 15.62

Haploinsufficiency Scores

• pHI: 0.916
• hipred: Y
• hipred_score: 0.728
• ghis: 0.621

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.826

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Coro1c
• Phenotype: growth/size/body region phenotype; endocrine/exocrine gland phenotype; muscle phenotype; craniofacial phenotype; homeostasis/metabolism phenotype; immune system phenotype; skeleton phenotype; embryo phenotype; liver/biliary system phenotype; normal phenotype; reproductive system phenotype; cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); neoplasm; nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); digestive/alimentary phenotype; vision/eye phenotype

Zebrafish Information Network

• Gene name: coro1ca
• Affected structure: chondrocyte
• Phenotype tag: abnormal
• Phenotype quality: mislocalised

Gene ontology

• Biological process: neural crest cell migration;regulation of protein phosphorylation;negative regulation of protein phosphorylation;phagocytosis;signal transduction;regulation of epithelial cell migration;negative regulation of epithelial cell migration;regulation of fibroblast migration;actin cytoskeleton organization;negative regulation of protein kinase activity by regulation of protein phosphorylation;establishment of protein localization;regulation of focal adhesion assembly;negative regulation of focal adhesion assembly;activation of GTPase activity;regulation of substrate adhesion-dependent cell spreading;negative regulation of substrate adhesion-dependent cell spreading;regulation of ruffle assembly;positive regulation of lamellipodium morphogenesis
• Cellular component: focal adhesion;cell cortex;actin cytoskeleton;lateral plasma membrane;flotillin complex;sarcomere;lamellipodium;vesicle;ruffle membrane;sarcolemma;synapse
• Molecular function: protein binding;Rac GTPase binding;actin filament binding