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

ENSG00000169245 ∙ NCBI:3627 ∙ OMIM:147310 ∙ HGNC:10637 ∙ Uniprot:P02778 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

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	1
missense			3		1	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)
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: gnomAD

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: 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

• 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