CCL26
Basic information
Region (hg38): 7:75769533-75789896
Previous symbols: [ "SCYA26" ]
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 CCL26 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 | 9 | |||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| inframe indel | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| splice region | 0 | |||||
| non coding | 1 | |||||
| Total | 0 | 0 | 7 | 3 | 0 |
Variants in CCL26
This is a list of pathogenic ClinVar variants found in the CCL26 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
| Position | Type | Phenotype | Significance | ClinVar |
|---|---|---|---|---|
| 7-75769703-T-G | not specified | Uncertain significance (Sep 12, 2023) | ||
| 7-75769746-T-C | not specified | Likely benign (Dec 20, 2023) | ||
| 7-75771899-G-A | not specified | Uncertain significance (Aug 01, 2022) | ||
| 7-75771929-A-C | not specified | Uncertain significance (Feb 28, 2024) | ||
| 7-75771934-C-T | not specified | Likely benign (Nov 21, 2022) | ||
| 7-75771943-G-A | not specified | Uncertain significance (Oct 28, 2023) | ||
| 7-75771960-G-T | not specified | Uncertain significance (Dec 20, 2023) | ||
| 7-75771988-G-A | not specified | Uncertain significance (Dec 09, 2023) | ||
| 7-75771997-C-A | not specified | Uncertain significance (Oct 14, 2021) | ||
| 7-75772013-A-G | Likely benign (Mar 29, 2018) | |||
| 7-75772171-C-T | not specified | Uncertain significance (Apr 12, 2024) |
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| CCL26 | protein_coding | protein_coding | ENST00000394905 | 3 | 20364 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.0101 | 0.624 | 123876 | 12 | 1850 | 125738 | 0.00743 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | -0.203 | 55 | 50.9 | 1.08 | 0.00000257 | 604 |
| Missense in Polyphen | 20 | 12.414 | 1.6111 | 158 | ||
| Synonymous | 0.147 | 18 | 18.8 | 0.957 | 8.77e-7 | 177 |
| Loss of Function | 0.363 | 3 | 3.76 | 0.798 | 2.59e-7 | 35 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.00533 | 0.00533 |
| Ashkenazi Jewish | 0.0106 | 0.0106 |
| East Asian | 0.00 | 0.00 |
| Finnish | 0.0107 | 0.0106 |
| European (Non-Finnish) | 0.0116 | 0.0115 |
| Middle Eastern | 0.00 | 0.00 |
| South Asian | 0.000817 | 0.000817 |
| Other | 0.00684 | 0.00670 |
dbNSFP
Source:
- Function
- FUNCTION: Chemoattractant for eosinophils and basophils (PubMed:10415065, PubMed:10488147). Acts as a ligand for C-C chemokine receptor CCR3 which triggers Ca(2+) mobilization in eosinophils (PubMed:10415065, PubMed:10488147, PubMed:11425309). {ECO:0000269|PubMed:10415065, ECO:0000269|PubMed:10488147, ECO:0000269|PubMed:11425309}.;
- Pathway
- Chemokine signaling pathway - Homo sapiens (human);Cytokine-cytokine receptor interaction - Homo sapiens (human);Chemokine signaling pathway;IL4-mediated signaling events
(Consensus)
Recessive Scores
- pRec
- 0.217
Intolerance Scores
- loftool
- 0.752
- rvis_EVS
- 0.52
- rvis_percentile_EVS
- 80.46
Haploinsufficiency Scores
- pHI
- 0.213
- hipred
- N
- hipred_score
- 0.123
- ghis
- 0.403
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- S
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- N
- gene_indispensability_score
- 0.142
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Ccl26
- Phenotype
- homeostasis/metabolism phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan);
Gene ontology
- Biological process
- positive regulation of endothelial cell proliferation;monocyte chemotaxis;chemotaxis;inflammatory response;signal transduction;G protein-coupled receptor signaling pathway;cell-cell signaling;regulation of signaling receptor activity;T cell chemotaxis;positive regulation of cell migration;neutrophil chemotaxis;positive regulation of actin filament polymerization;positive regulation of GTPase activity;eosinophil chemotaxis;lymphocyte chemotaxis;positive regulation of chemotaxis;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
- Cellular component
- extracellular space
- Molecular function
- protein binding;chemokine activity;CCR3 chemokine receptor binding;receptor ligand activity;CCR chemokine receptor binding