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GeneBe

CXCL11

C-X-C motif chemokine ligand 11, the group of Chemokine ligands

Basic information

Region (hg38): 4:76033681-76041415

Previous symbols: [ "SCYB9B", "SCYB11" ]

Links

ENSG00000169248NCBI:6373OMIM:604852HGNC:10638Uniprot:O14625AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the CXCL11 gene.

  • Inborn genetic diseases (5 variants)

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
clinvar
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 Inborn genetic diseases Uncertain significance (Mar 06, 2023)2494248
4-76035066-T-A Inborn genetic diseases Uncertain significance (Sep 27, 2022)2229108
4-76035074-T-G Inborn genetic diseases Uncertain significance (Mar 22, 2023)2528238
4-76035118-T-C Inborn genetic diseases Uncertain significance (Aug 08, 2023)2591156
4-76035929-T-G Inborn genetic diseases Uncertain significance (Dec 02, 2021)2409509

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
CXCL11protein_codingprotein_codingENST00000306621 47734
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.3140.622125733051257380.0000199
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense0.3204551.50.8750.00000250620
Missense in Polyphen1112.6930.8666162
Synonymous-0.09811615.51.037.27e-7169
Loss of Function1.4314.130.2421.72e-758

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.00008720.0000872
Ashkenazi Jewish0.000.00
East Asian0.000.00
Finnish0.000.00
European (Non-Finnish)0.000008800.00000879
Middle Eastern0.000.00
South Asian0.00003300.0000327
Other0.000.00

dbNSFP

Source: dbNSFP

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

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

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