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GeneBe

CXCL10

C-X-C motif chemokine ligand 10, the group of Chemokine ligands

Basic information

Region (hg38): 4:76021117-76023497

Previous symbols: [ "INP10", "SCYB10" ]

Links

ENSG00000169245NCBI:3627OMIM:147310HGNC:10637Uniprot:P02778AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the CXCL10 gene.

  • Inborn genetic diseases (3 variants)
  • not provided (2 variants)

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
clinvar
1
missense
3
clinvar
1
clinvar
4
nonsense
0
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
0
non coding
0
Total 0 0 3 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
4-76022401-G-T Benign (Jul 31, 2018)731714
4-76022442-T-C Inborn genetic diseases Uncertain significance (May 09, 2023)2517570
4-76022721-G-A Inborn genetic diseases Uncertain significance (Nov 18, 2022)2327969
4-76022790-C-T Inborn genetic diseases Uncertain significance (Dec 21, 2022)2214856
4-76022794-G-A Benign (Jul 07, 2018)773454

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
CXCL10protein_codingprotein_codingENST00000306602 42378
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.3690.587124538011245390.00000401
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense0.3354551.80.8690.00000253636
Missense in Polyphen1311.131.168147
Synonymous0.5881316.00.8137.44e-7185
Loss of Function1.5914.720.2121.98e-760

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.000.00
Ashkenazi Jewish0.000.00
East Asian0.000.00
Finnish0.000.00
European (Non-Finnish)0.000.00
Middle Eastern0.000.00
South Asian0.00003270.0000327
Other0.000.00

dbNSFP

Source: dbNSFP

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

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

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