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GeneBe

CXCL14

C-X-C motif chemokine ligand 14, the group of Chemokine ligands

Basic information

Region (hg38): 5:135570678-135579279

Previous symbols: [ "SCYB14" ]

Links

ENSG00000145824NCBI:9547OMIM:604186HGNC:10640Uniprot:O95715AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the CXCL14 gene.

  • Inborn genetic diseases (4 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CXCL14 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
4
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 4 0 0

Variants in CXCL14

This is a list of pathogenic ClinVar variants found in the CXCL14 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position Type Phenotype Significance ClinVar
5-135578438-C-T Inborn genetic diseases Uncertain significance (Aug 26, 2022)2369310
5-135578470-T-C Inborn genetic diseases Uncertain significance (Jul 26, 2022)2399638
5-135578760-C-T Inborn genetic diseases Uncertain significance (Apr 05, 2023)2533452
5-135578780-C-G Inborn genetic diseases Uncertain significance (Jul 06, 2021)2351209

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
CXCL14protein_codingprotein_codingENST00000337225 48597
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.03730.845125745031257480.0000119
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense0.6885065.70.7610.00000360707
Missense in Polyphen1419.3490.72354216
Synonymous0.5472326.60.8650.00000146214
Loss of Function1.2636.440.4663.59e-771

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.000.00
Ashkenazi Jewish0.00009920.0000992
East Asian0.000.00
Finnish0.000.00
European (Non-Finnish)0.00001760.0000176
Middle Eastern0.000.00
South Asian0.000.00
Other0.000.00

dbNSFP

Source: dbNSFP

Function
FUNCTION: Potent chemoattractant for neutrophils, and weaker for dendritic cells. Not chemotactic for T-cells, B-cells, monocytes, natural killer cells or granulocytes. Does not inhibit proliferation of myeloid progenitors in colony formation assays. {ECO:0000269|PubMed:10049774, ECO:0000269|PubMed:10946286}.;
Pathway
Chemokine signaling pathway - Homo sapiens (human);Cytokine-cytokine receptor interaction - Homo sapiens (human);Chemokine signaling pathway;Senescence and Autophagy in Cancer (Consensus)

Recessive Scores

pRec
0.214

Intolerance Scores

loftool
0.422
rvis_EVS
0.08
rvis_percentile_EVS
59.43

Haploinsufficiency Scores

pHI
0.319
hipred
N
hipred_score
0.412
ghis
0.586

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
gene_indispensability_pred
N
gene_indispensability_score
0.142

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Cxcl14
Phenotype
homeostasis/metabolism phenotype; adipose tissue phenotype (the observable morphological and physiological characteristics of mammalian fat tissue that are manifested through development and lifespan); growth/size/body region phenotype; hematopoietic system 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); reproductive system phenotype; renal/urinary system phenotype; immune system phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); liver/biliary system phenotype;

Gene ontology

Biological process
chemotaxis;immune response;signal transduction;cell-cell signaling;regulation of signaling receptor activity;negative regulation of myoblast differentiation;inner ear development;cell chemotaxis;positive regulation of natural killer cell chemotaxis
Cellular component
extracellular space;Golgi apparatus
Molecular function
protein binding;chemokine activity