Atlas of Genetics and Cytogenetics in Oncology and Haematology

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IL1R1 (interleukin 1 receptor type 1)

Identity

Alias_namestype I
IL1R
IL1RA
Alias_symbol (synonym)D2S1473
CD121A
Other aliasIL-1R-alpha
P80
HGNC (Hugo) IL1R1
LocusID (NCBI) 3554
Atlas_Id 45898
Location 2q12.1  [Link to chromosome band 2q12]
Location_base_pair Starts at 102104574 and ends at 102165371 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)		Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
IL1R1 (2q12.1) / IL1R1 (2q12.1)IL1R1 (2q12.1) / IL1R2 (2q11.2)NEDD4L (18q21.31) / IL1R1 (2q12.1)
TSPAN31 (12q14.1) / IL1R1 (2q12.1)IL1R1 2q12.1 / IL1R2 2q11.2

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 

Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 1 ]
  IL1R1/IL1R2 (2q11)

External links

Nomenclature
HGNC (Hugo)IL1R1   5993
Cards
Entrez_Gene (NCBI)IL1R1  3554  interleukin 1 receptor type 1
AliasesCD121A; D2S1473; IL-1R-alpha; IL1R; 
IL1RA; P80
GeneCards (Weizmann)IL1R1
Ensembl hg19 (Hinxton)ENSG00000115594 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000115594 [Gene_View]  ENSG00000115594 [Sequence]  chr2:102104574-102165371 [Contig_View]  IL1R1 [Vega]
ICGC DataPortalENSG00000115594
TCGA cBioPortalIL1R1
AceView (NCBI)IL1R1
Genatlas (Paris)IL1R1
WikiGenes3554
SOURCE (Princeton)IL1R1
Genetics Home Reference (NIH)IL1R1
Genomic and cartography
GoldenPath hg38 (UCSC)IL1R1  -     chr2:102104574-102165371 +  2q12.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)IL1R1  -     2q12.1   [Description]    (hg19-Feb_2009)
GoldenPathIL1R1 - 2q12.1 [CytoView hg19]  IL1R1 - 2q12.1 [CytoView hg38]
ImmunoBaseENSG00000115594
Mapping of homologs : NCBIIL1R1 [Mapview hg19]  IL1R1 [Mapview hg38]
OMIM147810   
Gene and transcription
Genbank (Entrez)AK026803 AK314433 AL548240 AU136426 BC067506
RefSeq transcript (Entrez)NM_000877 NM_001288706 NM_001320978 NM_001320980 NM_001320981 NM_001320982 NM_001320983 NM_001320984 NM_001320985 NM_001320986
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)IL1R1
Cluster EST : UnigeneHs.701982 [ NCBI ]
CGAP (NCI)Hs.701982
Alternative Splicing GalleryENSG00000115594
Gene ExpressionIL1R1 [ NCBI-GEO ]   IL1R1 [ EBI - ARRAY_EXPRESS ]   IL1R1 [ SEEK ]   IL1R1 [ MEM ]
Gene Expression Viewer (FireBrowse)IL1R1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)3554
GTEX Portal (Tissue expression)IL1R1
Human Protein AtlasENSG00000115594-IL1R1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP14778   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP14778  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP14778
Splice isoforms : SwissVarP14778
PhosPhoSitePlusP14778
Domaine pattern : Prosite (Expaxy)IG_LIKE (PS50835)    TIR (PS50104)   
Domains : Interpro (EBI)Ig-like_dom    Ig-like_dom_sf    Ig-like_fold    Ig_I-set    Ig_sub    IL-1_rcpt_fam    IL-1_rcpt_I-typ    IL-1_rcpt_I/II-typ    TIR_dom    Toll_tir_struct_dom_sf   
Domain families : Pfam (Sanger)I-set (PF07679)    Ig_2 (PF13895)    TIR (PF01582)   
Domain families : Pfam (NCBI)pfam07679    pfam13895    pfam01582   
Domain families : Smart (EMBL)IG (SM00409)  TIR (SM00255)  
Conserved Domain (NCBI)IL1R1
DMDM Disease mutations3554
Blocks (Seattle)IL1R1
PDB (RSDB)1G0Y    1IRA    1ITB    4DEP    4GAF   
PDB Europe1G0Y    1IRA    1ITB    4DEP    4GAF   
PDB (PDBSum)1G0Y    1IRA    1ITB    4DEP    4GAF   
PDB (IMB)1G0Y    1IRA    1ITB    4DEP    4GAF   
Structural Biology KnowledgeBase1G0Y    1IRA    1ITB    4DEP    4GAF   
SCOP (Structural Classification of Proteins)1G0Y    1IRA    1ITB    4DEP    4GAF   
CATH (Classification of proteins structures)1G0Y    1IRA    1ITB    4DEP    4GAF   
SuperfamilyP14778
Human Protein Atlas [tissue]ENSG00000115594-IL1R1 [tissue]
Peptide AtlasP14778
HPRD00994
IPIIPI00027508   IPI00915990   IPI00917338   IPI00916430   IPI00916618   IPI00917872   IPI00917998   IPI00916981   IPI00917203   IPI00916257   IPI00917566   
Protein Interaction databases
DIP (DOE-UCLA)P14778
IntAct (EBI)P14778
FunCoupENSG00000115594
BioGRIDIL1R1
STRING (EMBL)IL1R1
ZODIACIL1R1
Ontologies - Pathways
QuickGOP14778
Ontology : AmiGOprotease binding  transmembrane signaling receptor activity  interleukin-1 receptor activity  interleukin-1, type I, activating receptor activity  platelet-derived growth factor receptor binding  protein binding  extracellular region  plasma membrane  integral component of plasma membrane  inflammatory response  immune response  cell surface receptor signaling pathway  external side of plasma membrane  membrane  cytokine-mediated signaling pathway  interleukin-1 binding  positive regulation of interferon-gamma production  regulation of inflammatory response  interleukin-1-mediated signaling pathway  interleukin-1-mediated signaling pathway  response to interleukin-1  positive regulation of neutrophil extravasation  positive regulation of T-helper 1 cell cytokine production  positive regulation of interleukin-1-mediated signaling pathway  
Ontology : EGO-EBIprotease binding  transmembrane signaling receptor activity  interleukin-1 receptor activity  interleukin-1, type I, activating receptor activity  platelet-derived growth factor receptor binding  protein binding  extracellular region  plasma membrane  integral component of plasma membrane  inflammatory response  immune response  cell surface receptor signaling pathway  external side of plasma membrane  membrane  cytokine-mediated signaling pathway  interleukin-1 binding  positive regulation of interferon-gamma production  regulation of inflammatory response  interleukin-1-mediated signaling pathway  interleukin-1-mediated signaling pathway  response to interleukin-1  positive regulation of neutrophil extravasation  positive regulation of T-helper 1 cell cytokine production  positive regulation of interleukin-1-mediated signaling pathway  
Pathways : KEGGMAPK signaling pathway    Cytokine-cytokine receptor interaction    NF-kappa B signaling pathway    Apoptosis    Osteoclast differentiation    Hematopoietic cell lineage    Amoebiasis    HTLV-I infection   
NDEx NetworkIL1R1
Atlas of Cancer Signalling NetworkIL1R1
Wikipedia pathwaysIL1R1
Orthology - Evolution
OrthoDB3554
GeneTree (enSembl)ENSG00000115594
Phylogenetic Trees/Animal Genes : TreeFamIL1R1
HOGENOMP14778
Homologs : HomoloGeneIL1R1
Homology/Alignments : Family Browser (UCSC)IL1R1
Gene fusions - Rearrangements
Fusion : MitelmanIL1R1/IL1R2 [2q12.1/2q11.2]  
Fusion PortalIL1R1 2q12.1 IL1R2 2q11.2 BRCA LUAD
Fusion : QuiverIL1R1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerIL1R1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)IL1R1
dbVarIL1R1
ClinVarIL1R1
1000_GenomesIL1R1 
Exome Variant ServerIL1R1
ExAC (Exome Aggregation Consortium)ENSG00000115594
GNOMAD BrowserENSG00000115594
Varsome BrowserIL1R1
Genetic variants : HAPMAP3554
Genomic Variants (DGV)IL1R1 [DGVbeta]
DECIPHERIL1R1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisIL1R1 
Mutations
ICGC Data PortalIL1R1 
TCGA Data PortalIL1R1 
Broad Tumor PortalIL1R1
OASIS PortalIL1R1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICIL1R1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDIL1R1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch IL1R1
DgiDB (Drug Gene Interaction Database)IL1R1
DoCM (Curated mutations)IL1R1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)IL1R1 (select a term)
intoGenIL1R1
Cancer3DIL1R1(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM147810   
Orphanet
DisGeNETIL1R1
MedgenIL1R1
Genetic Testing Registry IL1R1
NextProtP14778 [Medical]
TSGene3554
GENETestsIL1R1
Target ValidationIL1R1
Huge Navigator IL1R1 [HugePedia]
snp3D : Map Gene to Disease3554
BioCentury BCIQIL1R1
ClinGenIL1R1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD3554
Chemical/Pharm GKB GenePA29809
Clinical trialIL1R1
Miscellaneous
canSAR (ICR)IL1R1 (select the gene name)
DataMed IndexIL1R1
Probes
Litterature
PubMed284 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineIL1R1
EVEXIL1R1
GoPubMedIL1R1
iHOPIL1R1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Fri Jun 7 18:05:07 CEST 2019
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