CXCL11
Basic information
Region (hg38): 4:76033682-76041415
Previous symbols: [ "SCYB9B", "SCYB11" ]
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 CXCL11 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 | 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 | 5 | 0 | 0 |
Variants in CXCL11
This is a list of pathogenic ClinVar variants found in the CXCL11 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
| Position | Type | Phenotype | Significance | ClinVar |
|---|---|---|---|---|
| 4-76034815-T-G | not specified | Uncertain significance (Mar 06, 2023) | ||
| 4-76035066-T-A | not specified | Uncertain significance (Sep 27, 2022) | ||
| 4-76035074-T-G | not specified | Uncertain significance (Mar 22, 2023) | ||
| 4-76035093-T-C | not specified | Uncertain significance (Mar 21, 2024) | ||
| 4-76035118-T-C | not specified | Uncertain significance (Aug 08, 2023) | ||
| 4-76035929-T-G | not specified | Uncertain significance (Dec 19, 2023) |
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| CXCL11 | protein_coding | protein_coding | ENST00000306621 | 4 | 7734 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.314 | 0.622 | 125733 | 0 | 5 | 125738 | 0.0000199 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 0.320 | 45 | 51.5 | 0.875 | 0.00000250 | 620 |
| Missense in Polyphen | 11 | 12.693 | 0.8666 | 162 | ||
| Synonymous | -0.0981 | 16 | 15.5 | 1.03 | 7.27e-7 | 169 |
| Loss of Function | 1.43 | 1 | 4.13 | 0.242 | 1.72e-7 | 58 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.0000872 | 0.0000872 |
| Ashkenazi Jewish | 0.00 | 0.00 |
| East Asian | 0.00 | 0.00 |
| Finnish | 0.00 | 0.00 |
| European (Non-Finnish) | 0.00000880 | 0.00000879 |
| Middle Eastern | 0.00 | 0.00 |
| South Asian | 0.0000330 | 0.0000327 |
| Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Chemotactic for interleukin-activated T-cells but not unstimulated T-cells, neutrophils or monocytes. Induces calcium release in activated T-cells. Binds to CXCR3. May play an important role in CNS diseases which involve T-cell recruitment. May play a role in skin immune responses.;
- Pathway
- Chemokine signaling pathway - Homo sapiens (human);Toll-like receptor signaling pathway - Homo sapiens (human);Cytokine-cytokine receptor interaction - Homo sapiens (human);Regulation of toll-like receptor signaling pathway;Allograft Rejection;Chemokine signaling pathway;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
- 0.238
Intolerance Scores
- loftool
- 0.599
- rvis_EVS
- 0.28
- rvis_percentile_EVS
- 70.87
Haploinsufficiency Scores
- pHI
- 0.426
- hipred
- N
- hipred_score
- 0.146
- ghis
- 0.395
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.539
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Cxcl11
- Phenotype
Gene ontology
- Biological process
- chemotaxis;inflammatory response;immune response;signal transduction;G protein-coupled receptor signaling pathway;adenylate cyclase-activating G protein-coupled receptor signaling pathway;cell-cell signaling;regulation of signaling receptor activity;T cell chemotaxis;neutrophil chemotaxis;leukocyte chemotaxis;regulation of cell population proliferation;positive regulation of cAMP-mediated signaling;positive regulation of release of sequestered calcium ion into cytosol;antimicrobial humoral immune response mediated by antimicrobial peptide;chemokine-mediated signaling pathway;cellular response to lipopolysaccharide
- Cellular component
- extracellular region;extracellular space;cell
- Molecular function
- protein binding;chemokine activity;heparin binding;CXCR3 chemokine receptor binding