CCL7

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

Basic information

Region (hg38): 17:34270220-34272242

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

Links

ENSG00000108688 ∙ NCBI:6354 ∙ OMIM:158106 ∙ HGNC:10634 ∙ Uniprot:P80098 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

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

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			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		not specified	Uncertain significance (Apr 25, 2023)
17-34271200-C-G		not specified	Uncertain significance (Apr 18, 2023)
17-34271256-G-A		not specified	Uncertain significance (Jul 30, 2023)
17-34271728-G-A		not specified	Uncertain significance (Nov 15, 2021)
17-34271729-C-A		not specified	Uncertain significance (Nov 15, 2021)
17-34271746-T-G		not specified	Uncertain significance (Oct 26, 2022)
17-34271755-G-C		not specified	Uncertain significance (Sep 14, 2023)
17-34271789-C-T		not specified	Uncertain significance (Nov 08, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CCL7	protein_coding	protein_coding	ENST00000378569	3	2022

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000893	0.361	125706	0	6	125712	0.0000239

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.139	53	50.2	1.06	0.00000229	643
Missense in Polyphen		11	10.431	1.0546		145
Synonymous	-0.494	21	18.3	1.15	7.87e-7	185
Loss of Function	-0.449	4	3.14	1.27	1.32e-7	39

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000290	0.0000290
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000354	0.0000352
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.000163	0.000163

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

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

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