CCL24
Basic information
Region (hg38): 7:75810825-75823356
Previous symbols: [ "SCYA24" ]
Links
Phenotypes
GenCC
Source:
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 CCL24 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 | 4 | |||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| inframe indel | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| splice region | 0 | |||||
| non coding | 0 | |||||
| Total | 0 | 0 | 4 | 0 | 0 |
Variants in CCL24
This is a list of pathogenic ClinVar variants found in the CCL24 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
| Position | Type | Phenotype | Significance | ClinVar |
|---|---|---|---|---|
| 7-75811846-C-A | not specified | Uncertain significance (Apr 09, 2024) | ||
| 7-75811923-T-C | not specified | Uncertain significance (Jan 17, 2024) | ||
| 7-75813360-C-A | not specified | Uncertain significance (Dec 07, 2023) | ||
| 7-75813685-G-A | not specified | Uncertain significance (Feb 23, 2023) |
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| CCL24 | protein_coding | protein_coding | ENST00000416943 | 3 | 11692 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.00709 | 0.548 | 125645 | 0 | 16 | 125661 | 0.0000637 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 0.692 | 50 | 65.8 | 0.760 | 0.00000311 | 770 |
| Missense in Polyphen | 7 | 15.74 | 0.44471 | 209 | ||
| Synonymous | 0.0954 | 24 | 24.6 | 0.976 | 0.00000124 | 232 |
| Loss of Function | 0.0808 | 3 | 3.15 | 0.951 | 2.19e-7 | 30 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.000431 | 0.000431 |
| Ashkenazi Jewish | 0.00 | 0.00 |
| East Asian | 0.00 | 0.00 |
| Finnish | 0.0000473 | 0.0000464 |
| European (Non-Finnish) | 0.0000616 | 0.0000616 |
| Middle Eastern | 0.00 | 0.00 |
| South Asian | 0.0000327 | 0.0000327 |
| Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Chemotactic for resting T-lymphocytes, and eosinophils. Has lower chemotactic activity for neutrophils but none for monocytes and activated lymphocytes. Is a strong suppressor of colony formation by a multipotential hematopoietic progenitor cell line. Binds to CCR3.;
- Pathway
- Chemokine signaling pathway - Homo sapiens (human);Cytokine-cytokine receptor interaction - Homo sapiens (human);Chemokine signaling pathway
(Consensus)
Recessive Scores
- pRec
- 0.188
Intolerance Scores
- loftool
- 0.568
- rvis_EVS
- 0.9
- rvis_percentile_EVS
- 89.35
Haploinsufficiency Scores
- pHI
- 0.0575
- hipred
- N
- hipred_score
- 0.123
- ghis
- 0.392
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- N
- gene_indispensability_score
- 0.148
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Ccl24
- Phenotype
- immune system phenotype; respiratory system phenotype; hematopoietic system phenotype;
Gene ontology
- Biological process
- positive regulation of endothelial cell proliferation;monocyte chemotaxis;chemotaxis;inflammatory response;immune response;cytoskeleton organization;signal transduction;G protein-coupled receptor signaling pathway;cell-cell signaling;regulation of cell shape;regulation of signaling receptor activity;positive regulation of cell migration;neutrophil chemotaxis;positive regulation of actin filament polymerization;positive regulation of GTPase activity;positive regulation of angiogenesis;eosinophil chemotaxis;lymphocyte chemotaxis;positive regulation of inflammatory response;chemokine-mediated signaling pathway;positive regulation of ERK1 and ERK2 cascade;cellular response to interferon-gamma;cellular response to interleukin-1;cellular response to tumor necrosis factor;positive regulation of eosinophil migration
- Cellular component
- extracellular space
- Molecular function
- protein binding;chemokine activity;CCR3 chemokine receptor binding;receptor ligand activity;CCR chemokine receptor binding