CXCR1
C-X-C motif chemokine receptor 1, the group of CD molecules|Interleukin receptors|C-X-C motif chemokine receptors
Basic information
Region (hg38): 2:218162841-218166962
Previous symbols: [ "CMKAR1", "IL8RA" ]
Links
Phenotypes
GenCC
Source:
No genCC data.
ClinVar
This is a list of variants' phenotypes submitted to
- not_specified (59 variants)
- not_provided (8 variants)
- CXCR1-related_disorder (5 variants)
- Susceptibility_to_HIV_infection (3 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the CXCR1 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000000634.3. Only rare variants are included in the table.
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.
| Effect | PathogenicP | Likely pathogenicLP | VUSVUS | Likely benignLB | BenignB | Sum |
|---|---|---|---|---|---|---|
| synonymous | 6 | |||||
| missense | 59 | 65 | ||||
| nonsense | 0 | |||||
| start loss | 1 | 1 | ||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 0 | 0 | 60 | 9 | 3 |
Loading clinvar variants...
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| CXCR1 | protein_coding | protein_coding | ENST00000295683 | 1 | 4151 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 3.03e-7 | 0.0996 | 125615 | 1 | 120 | 125736 | 0.000481 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | -0.411 | 214 | 198 | 1.08 | 0.0000122 | 2270 |
| Missense in Polyphen | 57 | 53.197 | 1.0715 | 681 | ||
| Synonymous | -1.42 | 101 | 84.4 | 1.20 | 0.00000467 | 759 |
| Loss of Function | -0.594 | 9 | 7.27 | 1.24 | 4.05e-7 | 84 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.00104 | 0.00104 |
| Ashkenazi Jewish | 0.00 | 0.00 |
| East Asian | 0.000109 | 0.000109 |
| Finnish | 0.00 | 0.00 |
| European (Non-Finnish) | 0.000220 | 0.000220 |
| Middle Eastern | 0.000109 | 0.000109 |
| South Asian | 0.00209 | 0.00206 |
| Other | 0.000654 | 0.000652 |
dbNSFP
Source:
- Function
- FUNCTION: Receptor to interleukin-8, which is a powerful neutrophils chemotactic factor. Binding of IL-8 to the receptor causes activation of neutrophils. This response is mediated via a G-protein that activate a phosphatidylinositol-calcium second messenger system. This receptor binds to IL-8 with a high affinity and to MGSA (GRO) with a low affinity.;
- Pathway
- Endocytosis - Homo sapiens (human);Chemokine signaling pathway - Homo sapiens (human);Epithelial cell signaling in Helicobacter pylori infection - Homo sapiens (human);Phospholipase D signaling pathway - Homo sapiens (human);Cytokine-cytokine receptor interaction - Homo sapiens (human);GPCRs, Other;Peptide GPCRs;Differentiation Pathway;Hepatitis C and Hepatocellular Carcinoma;GPCRs, Class A Rhodopsin-like;Signaling by GPCR;Neutrophil degranulation;Signal Transduction;JAK STAT MolecularVariation 1;GPCR signaling-G alpha q;GPCR signaling-cholera toxin;GPCR signaling-pertussis toxin;Innate Immune System;Immune System;Chemokine receptors bind chemokines;Peptide ligand-binding receptors;Class A/1 (Rhodopsin-like receptors);GPCR ligand binding;GPCR signaling-G alpha s Epac and ERK;GPCR signaling-G alpha s PKA and ERK;JAK STAT MolecularVariation 2;JAK STAT pathway and regulation;G alpha (i) signalling events;GPCR signaling-G alpha i;GPCR downstream signalling;IL8- and CXCR1-mediated signaling events
(Consensus)
Recessive Scores
- pRec
- 0.307
Intolerance Scores
- loftool
- 0.750
- rvis_EVS
- 0.46
- rvis_percentile_EVS
- 78.69
Haploinsufficiency Scores
- pHI
- 0.0664
- hipred
- N
- hipred_score
- 0.166
- ghis
- 0.488
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
- Cxcr1
- Phenotype
- immune system phenotype; normal phenotype; hematopoietic system phenotype;
Zebrafish Information Network
- Gene name
- cxcr1
- Affected structure
- blood island
- Phenotype tag
- abnormal
- Phenotype quality
- has fewer parts of type
Gene ontology
- Biological process
- dendritic cell chemotaxis;chemotaxis;immune response;cell surface receptor signaling pathway;G protein-coupled receptor signaling pathway;positive regulation of cytosolic calcium ion concentration;calcium-mediated signaling;neutrophil chemotaxis;receptor internalization;interleukin-8-mediated signaling pathway;neutrophil degranulation;cell chemotaxis;chemokine-mediated signaling pathway
- Cellular component
- plasma membrane;external side of plasma membrane;integral component of membrane;secretory granule membrane
- Molecular function
- interleukin-8 receptor activity;G protein-coupled receptor activity;chemokine receptor activity;C-C chemokine receptor activity;chemokine binding;C-C chemokine binding;interleukin-8 binding