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mutLBSgeneDB |
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| Gene summary for IL1R1 |
 Gene summary |
| Basic gene Info. | Gene symbol | IL1R1 |
| Gene name | interleukin 1 receptor, type I | |
| Synonyms | CD121A|D2S1473|IL-1R-alpha|IL1R|IL1RA|P80 | |
| Cytomap | UCSC genome browser: 2q12 | |
| Type of gene | protein-coding | |
| RefGenes | NM_000877.3, NM_001288706.1, | |
| Description | CD121 antigen-like family member AIL-1R-1IL-1RT-1IL-1RT1interleukin 1 receptor alpha, type Iinterleukin-1 receptor alphainterleukin-1 receptor type 1interleukin-1 receptor type I | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 147810 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000115594 | ||
| HPRD : 00994 | ||
| Vega : OTTHUMG00000130783 | ||
| Protein | UniProt: P14778 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_IL1R1 | |
| BioGPS: 3554 | ||
| Pathway | NCI Pathway Interaction Database: IL1R1 | |
| KEGG: IL1R1 | ||
| REACTOME: IL1R1 | ||
| Pathway Commons: IL1R1 | ||
| Context | iHOP: IL1R1 | |
| ligand binding site mutation search in PubMed: IL1R1 | ||
| UCL Cancer Institute: IL1R1 | ||
| Assigned class in mutLBSgeneDB | C: This gene just belongs to mutLBSgenes. | |
| Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez |
| GO ID | GO Term | PubMed ID | GO:0070498 | interleukin-1-mediated signaling pathway | 10383454 | GO:0070555 | response to interleukin-1 | 10383454 |
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| Ligand binding site mutations for IL1R1 |
| Lollipop-style diagram of mutations at LBS in amino-acid sequence. We represented ligand binding site mutations only. (You can see big image via clicking.)  : non-synonymous mutation on LBS, Circle size denotes number of samples. |
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| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | P43 | P43L | SKCM | 2 |
| cf) Cancer type abbreviation. BLCA: Bladder urothelial carcinoma, BRCA: Breast invasive carcinoma, CESC: Cervical squamous cell carcinoma and endocervical adenocarcinoma, COAD: Colon adenocarcinoma, GBM: Glioblastoma multiforme, LGG: Brain lower grade glioma, HNSC: Head and neck squamous cell carcinoma, KICH: Kidney chromophobe, KIRC: Kidney renal clear cell carcinoma, KIRP: Kidney renal papillary cell carcinoma, LAML: Acute myeloid leukemia, LUAD: Lung adenocarcinoma, LUSC: Lung squamous cell carcinoma, OV: Ovarian serous cystadenocarcinoma, PAAD: Pancreatic adenocarcinoma, PRAD: Prostate adenocarcinoma, SKCM: Skin cutaneous melanoma, STAD: Stomach adenocarcinoma, THCA: Thyroid carcinoma, UCEC: Uterine corpus endometrial carcinoma. |
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| Protein structure related information for IL1R1 |
| Relative protein structure stability change (ΔΔE) using Mupro 1.1 Mupro score denotes assessment of the effect of mutations on thermodynamic stability. (ΔΔE<0: mutation decreases stability, ΔΔE>0: mutation increases stability) |
 : nsSNV at non-LBS : nsSNV at LBS |
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| nsSNVs sorted by the relative stability change of protein structure by each mutation Blue: mutations of positive stability change. and red : the most recurrent mutation for this gene. |
| LBS | AAchange of nsSNV | Relative stability change | P43 | P43L | -0.052624982 |
| (MuPro1.1: Jianlin Cheng et al., Prediction of Protein Stability Changes for Single-Site Mutations Using Support Vector Machines, PROTEINS: Structure, Function, and Bioinformatics. 2006, 62:1125-1132) |
| Structure image for IL1R1 from PDB |
| PDB ID | PDB title | PDB structure | 1G0Y | IL-1 RECEPTOR TYPE 1 COMPLEXED WITH ANTAGONIST PEPTIDE AF10847 |  |
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| Differential gene expression and gene-gene network for IL1R1 |
| Differential gene expression between mutated and non-mutated LBS samples in all 16 major cancer types |
| Differential co-expressed gene network based on protein-protein interaction data (CePIN) |
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| Phenotype information for IL1R1 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0014175 | Endometriosis | 7 | AlteredExpression, Biomarker, GeneticVariation |
| umls:C0037274 | Skin Diseases | 2 | Biomarker, GeneticVariation |
| umls:C0270611 | Brain Injuries | 1 | Biomarker |
| umls:C0006435 | Burns, Chemical | 1 | Biomarker |
| umls:C0020517 | Hypersensitivity | 1 | Biomarker |
| umls:C0032285 | Pneumonia | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for IL1R1 |
| Gene expression profile of anticancer drug treated cell-lines (CCLE) Heatmap showing the correlation between gene expression and drug response across all the cell-lines. We chose the top 20 among 138 drugs.We used Pearson's correlation coefficient. |
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| Gene-centered drug-gene interaction network |
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| Drug information targeting mutLBSgene (Approved drugs only) |
| Drug status | DrugBank ID | Name | Type | Drug structure |
| Approved | DB00026 | Anakinra | Biotech |  |
| Investigational | DB05207 | SD118 | Small molecule |  |
| Investigational | DB05303 | OMS-103HP | Small molecule |  |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of IL1R1 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS |
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| Conservation information for LBS of IL1R1 |
| Multiple alignments for P14778 in multiple species |
| LBS | AA sequence | # species | Species |
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