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GeneBe

CCL17

C-C motif chemokine ligand 17, the group of Chemokine ligands

Basic information

Region (hg38): 16:57404766-57416063

Previous symbols: [ "SCYA17" ]

Links

ENSG00000102970NCBI:6361OMIM:601520HGNC:10615Uniprot:Q92583AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the CCL17 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 CCL17 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
1
clinvar
1
missense
4
clinvar
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 1

Variants in CCL17

This is a list of pathogenic ClinVar variants found in the CCL17 region.

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

Position Type Phenotype Significance ClinVar
16-57415094-T-C Benign (Apr 23, 2018)717786
16-57415102-G-A Inborn genetic diseases Uncertain significance (May 18, 2022)2220783
16-57415129-G-A Inborn genetic diseases Uncertain significance (Nov 30, 2021)2368843
16-57415131-G-A Inborn genetic diseases Uncertain significance (Jun 29, 2023)2608813
16-57415781-G-A Inborn genetic diseases Uncertain significance (Oct 06, 2021)2363122

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
CCL17protein_codingprotein_codingENST00000219244 311296
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.0001390.2491257280171257450.0000676
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense0.4764251.60.8140.00000279595
Missense in Polyphen1416.8370.8315188
Synonymous1.121521.60.6940.00000121190
Loss of Function-0.69753.581.402.18e-737

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.0001480.000148
Ashkenazi Jewish0.0001010.0000992
East Asian0.000.00
Finnish0.00004840.0000462
European (Non-Finnish)0.00004430.0000439
Middle Eastern0.000.00
South Asian0.0001960.000196
Other0.000.00

dbNSFP

Source: dbNSFP

Function
FUNCTION: Chemotactic factor for T-lymphocytes but not monocytes or granulocytes. May play a role in T-cell development in thymus and in trafficking and activation of mature T-cells. Binds to CCR4. {ECO:0000269|PubMed:10540332}.;
Pathway
Chemokine signaling pathway - Homo sapiens (human);C-type lectin receptor signaling pathway - Homo sapiens (human);IL-17 signaling pathway - Homo sapiens (human);Cytokine-cytokine receptor interaction - Homo sapiens (human);C-type lectin receptors (CLRs);Chemokine signaling pathway;IL4-mediated signaling events (Consensus)

Recessive Scores

pRec
0.239

Intolerance Scores

loftool
0.651
rvis_EVS
0.44
rvis_percentile_EVS
77.45

Haploinsufficiency Scores

pHI
0.0800
hipred
N
hipred_score
0.146
ghis
0.390

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
E
gene_indispensability_score
0.871

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Ccl17
Phenotype
hematopoietic system phenotype; immune system phenotype; cellular phenotype;

Gene ontology

Biological process
monocyte chemotaxis;chemotaxis;inflammatory response;G protein-coupled receptor signaling pathway;cell-cell signaling;multicellular organism development;regulation of signaling receptor activity;neutrophil chemotaxis;positive regulation of GTPase activity;negative regulation of myoblast differentiation;lymphocyte 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
signaling receptor binding;protein binding;chemokine activity;CCR4 chemokine receptor binding;CCR chemokine receptor binding