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GeneBe

CCL15

C-C motif chemokine ligand 15, the group of Chemokine ligands

Basic information

Region (hg38): 17:35996439-36001553

Previous symbols: [ "SCYA15" ]

Links

ENSG00000275718NCBI:6359OMIM:601393HGNC:10613Uniprot:Q16663AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the CCL15 gene.

  • Inborn genetic diseases (7 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CCL15 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
clinvar
1
clinvar
7
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 1 0

Variants in CCL15

This is a list of pathogenic ClinVar variants found in the CCL15 region.

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

Position Type Phenotype Significance ClinVar
17-35997771-A-G Inborn genetic diseases Uncertain significance (Jun 24, 2022)2295803
17-35997772-T-C Inborn genetic diseases Uncertain significance (Dec 15, 2022)2335190
17-35997793-T-G Inborn genetic diseases Uncertain significance (Nov 08, 2022)2324454
17-35997840-C-T Inborn genetic diseases Likely benign (Jun 30, 2022)2250969
17-35997841-G-A Inborn genetic diseases Uncertain significance (Jun 29, 2022)2318233
17-35998325-T-C Inborn genetic diseases Uncertain significance (Nov 23, 2021)2254496
17-36001480-C-T Inborn genetic diseases Uncertain significance (Nov 18, 2022)2327723

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

Function
FUNCTION: Chemotactic factor that attracts T-cells and monocytes, but not neutrophils, eosinophils, or B-cells. Acts mainly via CC chemokine receptor CCR1. Also binds to CCR3. CCL15(22-92), CCL15(25-92) and CCL15(29-92) are more potent chemoattractants than the small-inducible cytokine A15. {ECO:0000269|PubMed:15905581}.;
Pathway
Chemokine signaling pathway - Homo sapiens (human);Cytokine-cytokine receptor interaction - Homo sapiens (human);Chemokine signaling pathway (Consensus)

Recessive Scores

pRec
0.0750

Intolerance Scores

loftool
rvis_EVS
0.35
rvis_percentile_EVS
73.97

Haploinsufficiency Scores

pHI
0.0334
hipred
N
hipred_score
0.112
ghis

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
N
gene_indispensability_score
0.125

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Scyl3
Phenotype
growth/size/body region phenotype; muscle phenotype; 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); behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan);

Gene ontology

Biological process
monocyte chemotaxis;cellular calcium ion homeostasis;chemotaxis;inflammatory response;signal transduction;G protein-coupled receptor signaling pathway;cell-cell signaling;regulation of signaling receptor activity;neutrophil chemotaxis;positive regulation of GTPase activity;eosinophil chemotaxis;lymphocyte chemotaxis;positive 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;cell
Molecular function
signaling receptor binding;chemokine activity;heparin binding;chemoattractant activity;CCR chemokine receptor binding