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GeneBe

CCL7

C-C motif chemokine ligand 7, the group of Chemokine ligands

Basic information

Region (hg38): 17:34270220-34272242

Previous symbols: [ "SCYA6", "SCYA7" ]

Links

ENSG00000108688NCBI:6354OMIM:158106HGNC:10634Uniprot:P80098AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the CCL7 gene.

  • Inborn genetic diseases (8 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CCL7 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
8
clinvar
8
nonsense
0
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
0
non coding
0
Total 0 0 8 0 0

Variants in CCL7

This is a list of pathogenic ClinVar variants found in the CCL7 region.

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

Position Type Phenotype Significance ClinVar
17-34271176-A-G Inborn genetic diseases Uncertain significance (Apr 25, 2023)2540539
17-34271200-C-G Inborn genetic diseases Uncertain significance (Apr 18, 2023)2516893
17-34271256-G-A Inborn genetic diseases Uncertain significance (Jul 30, 2023)2598653
17-34271728-G-A Inborn genetic diseases Uncertain significance (Nov 15, 2021)2261390
17-34271729-C-A Inborn genetic diseases Uncertain significance (Nov 15, 2021)2261391
17-34271746-T-G Inborn genetic diseases Uncertain significance (Oct 26, 2022)2320159
17-34271755-G-C Inborn genetic diseases Uncertain significance (Sep 14, 2023)2600608
17-34271789-C-T Inborn genetic diseases Uncertain significance (Nov 08, 2021)2318059

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
CCL7protein_codingprotein_codingENST00000378569 32022
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.0008930.361125706061257120.0000239
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense-0.1395350.21.060.00000229643
Missense in Polyphen1110.4311.0546145
Synonymous-0.4942118.31.157.87e-7185
Loss of Function-0.44943.141.271.32e-739

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.00002900.0000290
Ashkenazi Jewish0.000.00
East Asian0.000.00
Finnish0.000.00
European (Non-Finnish)0.00003540.0000352
Middle Eastern0.000.00
South Asian0.000.00
Other0.0001630.000163

dbNSFP

Source: dbNSFP

Function
FUNCTION: Chemotactic factor that attracts monocytes and eosinophils, but not neutrophils. Augments monocyte anti-tumor activity. Also induces the release of gelatinase B. This protein can bind heparin. Binds to CCR1, CCR2 and CCR3.;
Pathway
Chemokine signaling pathway - Homo sapiens (human);IL-17 signaling pathway - Homo sapiens (human);Cytokine-cytokine receptor interaction - Homo sapiens (human);Chemokine signaling pathway (Consensus)

Recessive Scores

pRec
0.336

Intolerance Scores

loftool
0.637
rvis_EVS
-0.08
rvis_percentile_EVS
47.79

Haploinsufficiency Scores

pHI
0.0513
hipred
N
hipred_score
0.112
ghis
0.447

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
N
gene_indispensability_score
0.467

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Ccl7
Phenotype
immune system phenotype; hematopoietic system phenotype;

Gene ontology

Biological process
monocyte chemotaxis;cellular calcium ion homeostasis;chemotaxis;inflammatory response;cytoskeleton organization;signal transduction;G protein-coupled receptor signaling pathway;cell-cell signaling;regulation of cell shape;response to gamma radiation;regulation of signaling receptor activity;positive regulation of cell migration;neutrophil chemotaxis;positive regulation of GTPase activity;eosinophil chemotaxis;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 response to ethanol;positive regulation of natural killer cell chemotaxis
Cellular component
extracellular space;cell
Molecular function
protein binding;chemokine activity;heparin binding;CCR1 chemokine receptor binding;CCR2 chemokine receptor binding;CCR chemokine receptor binding