CORO1C
coronin 1C, the group of WD repeat domain containing|Coronins
Basic information
Region (hg38): 12:108645109-108731526
Links
Phenotypes
GenCC
Source:
No genCC data.
ClinVar
This is a list of variants' phenotypes submitted to
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 | 11 | 11 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| inframe indel | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| splice region | 0 | |||||
| non coding | 0 | |||||
| Total | 0 | 0 | 11 | 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) | ||
| 12-108648633-G-A | not specified | Uncertain significance (Nov 23, 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) | ||
| 12-108648799-C-A | not specified | Uncertain significance (May 16, 2024) | ||
| 12-108652374-G-A | not specified | Uncertain significance (Nov 30, 2021) | ||
| 12-108657390-T-C | not specified | Uncertain significance (Apr 20, 2024) | ||
| 12-108658818-G-A | not specified | Uncertain significance (Jul 30, 2023) | ||
| 12-108662050-G-A | not specified | Uncertain significance (Aug 01, 2024) | ||
| 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:
| 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:
- 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
- loftool
- 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