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GeneBe

CCL11

C-C motif chemokine ligand 11, the group of Chemokine ligands

Basic information

Region (hg38): 17:34285741-34288334

Previous symbols: [ "SCYA11" ]

Links

ENSG00000172156NCBI:6356OMIM:601156HGNC:10610Uniprot:P51671AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the CCL11 gene.

  • Inborn genetic diseases (4 variants)
  • not provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CCL11 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
clinvar
1
clinvar
5
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 1

Variants in CCL11

This is a list of pathogenic ClinVar variants found in the CCL11 region.

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

Position Type Phenotype Significance ClinVar
17-34285864-C-A Inborn genetic diseases Uncertain significance (Aug 12, 2021)2400427
17-34285875-G-A CCL11-related condition Benign (Oct 25, 2019)3059737
17-34287103-C-G CCL11-related condition Likely benign (Jun 05, 2019)3038823
17-34287138-A-T Inborn genetic diseases Uncertain significance (Jun 30, 2023)2609064
17-34287602-C-A Inborn genetic diseases Uncertain significance (May 17, 2023)2547455
17-34287623-C-A Inborn genetic diseases Uncertain significance (May 23, 2023)2515496
17-34287653-A-C Benign (Jul 06, 2018)777159

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
CCL11protein_codingprotein_codingENST00000305869 32667
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.01020.6261257330131257460.0000517
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense-0.4155950.71.160.00000237623
Missense in Polyphen1110.0451.0951129
Synonymous-1.102720.61.310.00000104193
Loss of Function0.37033.780.7952.45e-733

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.00008700.0000870
Ashkenazi Jewish0.00009940.0000992
East Asian0.000.00
Finnish0.000.00
European (Non-Finnish)0.00005280.0000527
Middle Eastern0.000.00
South Asian0.00009800.0000980
Other0.000.00

dbNSFP

Source: dbNSFP

Function
FUNCTION: In response to the presence of allergens, this protein directly promotes the accumulation of eosinophils, a prominent feature of allergic inflammatory reactions. Binds to CCR3.;
Pathway
Asthma - Homo sapiens (human);Chemokine signaling pathway - Homo sapiens (human);IL-17 signaling pathway - Homo sapiens (human);Cytokine-cytokine receptor interaction - Homo sapiens (human);Thymic Stromal LymphoPoietin (TSLP) Signaling Pathway;Lung fibrosis;Chemokine signaling pathway;Interleukin-4 and 13 signaling;g-protein signaling through tubby proteins;corticosteroids and cardioprotection;cystic fibrosis transmembrane conductance regulator (cftr) and beta 2 adrenergic receptor (b2ar) pathway;ion channels and their functional role in vascular endothelium;ccr3 signaling in eosinophils;activation of csk by camp-dependent protein kinase inhibits signaling through the t cell receptor;chrebp regulation by carbohydrates and camp;role of -arrestins in the activation and targeting of map kinases;activation of camp-dependent protein kinase pka;roles of arrestin dependent recruitment of src kinases in gpcr signaling;activation of pkc through g-protein coupled receptors;-arrestins in gpcr desensitization;CXCR3-mediated signaling events;IL4-mediated signaling events (Consensus)

Recessive Scores

pRec
0.266

Intolerance Scores

loftool
0.769
rvis_EVS
0.3
rvis_percentile_EVS
72.01

Haploinsufficiency Scores

pHI
0.0145
hipred
N
hipred_score
0.112
ghis

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
E
gene_indispensability_score
0.801

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Ccl11
Phenotype
hematopoietic system phenotype; normal phenotype; respiratory system phenotype; immune system phenotype;

Gene ontology

Biological process
positive regulation of endothelial cell proliferation;chronic inflammatory response;monocyte chemotaxis;mast cell chemotaxis;protein phosphorylation;cellular calcium ion homeostasis;chemotaxis;inflammatory response;cytoskeleton organization;actin filament organization;cell adhesion;signal transduction;G protein-coupled receptor signaling pathway;regulation of cell shape;response to radiation;response to virus;regulation of signaling receptor activity;cytokine-mediated signaling pathway;positive regulation of cell migration;neutrophil chemotaxis;positive regulation of actin filament polymerization;response to interleukin-13;positive regulation of GTPase activity;positive regulation of angiogenesis;eosinophil chemotaxis;lymphocyte chemotaxis;branching involved in mammary gland duct morphogenesis;mammary duct terminal end bud growth;chemokine-mediated signaling pathway;ERK1 and ERK2 cascade;positive regulation of ERK1 and ERK2 cascade;response to interleukin-4;cellular response to interferon-gamma;cellular response to interleukin-1;cellular response to tumor necrosis factor
Cellular component
extracellular region;extracellular space;cell
Molecular function
protein binding;chemokine activity;CCR3 chemokine receptor binding;protein dimerization activity;receptor ligand activity;CCR chemokine receptor binding