CXCL10
C-X-C motif chemokine ligand 10, the group of Chemokine ligands
Basic information
Region (hg38): 4:76021118-76023497
Previous symbols: [ "INP10", "SCYB10" ]
Links
Phenotypes
GenCC
Source:
No genCC data.
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 CXCL10 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 | |||||
| missense | 5 | |||||
| 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 | 2 |
Variants in CXCL10
This is a list of pathogenic ClinVar variants found in the CXCL10 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
| Position | Type | Phenotype | Significance | ClinVar |
|---|---|---|---|---|
| 4-76022400-T-C | not specified | Uncertain significance (May 09, 2024) | ||
| 4-76022401-G-T | Benign (Jul 31, 2018) | |||
| 4-76022442-T-C | not specified | Uncertain significance (May 09, 2023) | ||
| 4-76022721-G-A | not specified | Uncertain significance (Nov 18, 2022) | ||
| 4-76022790-C-T | not specified | Uncertain significance (Dec 21, 2022) | ||
| 4-76022794-G-A | Benign (Jul 07, 2018) | |||
| 4-76022796-A-G | not specified | Uncertain significance (Dec 28, 2023) |
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| CXCL10 | protein_coding | protein_coding | ENST00000306602 | 4 | 2378 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.369 | 0.587 | 124538 | 0 | 1 | 124539 | 0.00000401 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 0.335 | 45 | 51.8 | 0.869 | 0.00000253 | 636 |
| Missense in Polyphen | 13 | 11.13 | 1.168 | 147 | ||
| Synonymous | 0.588 | 13 | 16.0 | 0.813 | 7.44e-7 | 185 |
| Loss of Function | 1.59 | 1 | 4.72 | 0.212 | 1.98e-7 | 60 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.00 | 0.00 |
| Ashkenazi Jewish | 0.00 | 0.00 |
| East Asian | 0.00 | 0.00 |
| Finnish | 0.00 | 0.00 |
| European (Non-Finnish) | 0.00 | 0.00 |
| Middle Eastern | 0.00 | 0.00 |
| South Asian | 0.0000327 | 0.0000327 |
| Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Chemotactic for monocytes and T-lymphocytes. Binds to CXCR3.;
- Pathway
- Influenza A - Homo sapiens (human);TNF signaling pathway - Homo sapiens (human);Chemokine signaling pathway - Homo sapiens (human);Cytosolic DNA-sensing pathway - Homo sapiens (human);Toll-like receptor signaling pathway - Homo sapiens (human);IL-17 signaling pathway - Homo sapiens (human);Cytokine-cytokine receptor interaction - Homo sapiens (human);RIG-I-like receptor signaling pathway - Homo sapiens (human);Regulation of toll-like receptor signaling pathway;Spinal Cord Injury;RIG-I-like Receptor Signaling;Chemokine signaling pathway;Interleukin-10 signaling;Fibrin Complement Receptor 3 Signaling Pathway;Type II interferon signaling (IFNG);Toll-like Receptor Signaling Pathway;Signaling by GPCR;Signal Transduction;Chemokine receptors bind chemokines;Peptide ligand-binding receptors;Class A/1 (Rhodopsin-like receptors);GPCR ligand binding;G alpha (i) signalling events;GPCR downstream signalling;CXCR3-mediated signaling events
(Consensus)
Recessive Scores
- pRec
- 0.588
Intolerance Scores
- loftool
- rvis_EVS
- 0.3
- rvis_percentile_EVS
- 71.81
Haploinsufficiency Scores
- pHI
- 0.130
- hipred
- N
- hipred_score
- 0.158
- ghis
- 0.386
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.716
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Cxcl10
- Phenotype
- mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); hematopoietic system phenotype; cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); 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); cellular phenotype; immune system phenotype; homeostasis/metabolism phenotype;
Gene ontology
- Biological process
- chemotaxis;inflammatory response;immune response;signal transduction;cell surface receptor signaling pathway;G protein-coupled receptor signaling pathway;adenylate cyclase-activating G protein-coupled receptor signaling pathway;cell-cell signaling;muscle organ development;blood circulation;positive regulation of cell population proliferation;response to cold;response to gamma radiation;regulation of signaling receptor activity;T cell chemotaxis;regulation of T cell chemotaxis;response to auditory stimulus;negative regulation of angiogenesis;cytokine-mediated signaling pathway;neutrophil chemotaxis;leukocyte chemotaxis;response to vitamin D;cellular response to heat;endothelial cell activation;regulation of cell population proliferation;positive regulation of cAMP-mediated signaling;negative regulation of myoblast differentiation;regulation of protein kinase activity;positive regulation of transcription by RNA polymerase II;positive regulation of release of sequestered calcium ion into cytosol;defense response to virus;antimicrobial humoral immune response mediated by antimicrobial peptide;chemokine-mediated signaling pathway;cellular response to lipopolysaccharide;positive regulation of monocyte chemotaxis;regulation of endothelial tube morphogenesis;negative regulation of myoblast fusion;positive regulation of T cell migration
- Cellular component
- extracellular region;extracellular space;external side of plasma membrane
- Molecular function
- signaling receptor binding;protein binding;chemokine activity;heparin binding;cAMP-dependent protein kinase regulator activity;CXCR3 chemokine receptor binding