CCL7
Basic information
Region (hg38): 17:34270220-34272242
Previous symbols: [ "SCYA6", "SCYA7" ]
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
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 | |||||
| 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:
| 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:
- 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