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mutLBSgeneDB |
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| Gene summary for FCER1A |
 Gene summary |
| Basic gene Info. | Gene symbol | FCER1A |
| Gene name | Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide | |
| Synonyms | FCE1A|FcERI | |
| Cytomap | UCSC genome browser: 1q23 | |
| Type of gene | protein-coding | |
| RefGenes | NM_002001.3, | |
| Description | Fc IgE receptor, alpha polypeptideFc epsilon RI alpha-chainFc-epsilon RI-alphahigh affinity immunoglobulin epsilon receptor alpha-subunithigh affinity immunoglobulin epsilon receptor subunit alphaigE Fc receptor subunit alphaimmunoglobulin E recepto | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 147140 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000179639 | ||
| HPRD : 00917 | ||
| Vega : OTTHUMG00000037176 | ||
| Protein | UniProt: P12319 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_FCER1A | |
| BioGPS: 2205 | ||
| Pathway | NCI Pathway Interaction Database: FCER1A | |
| KEGG: FCER1A | ||
| REACTOME: FCER1A | ||
| Pathway Commons: FCER1A | ||
| Context | iHOP: FCER1A | |
| ligand binding site mutation search in PubMed: FCER1A | ||
| UCL Cancer Institute: FCER1A | ||
| 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 |
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| Ligand binding site mutations for FCER1A |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | F85 | E86K | BRCA | 1 | W135 | G134S | GBM | 1 | R136 | R136S | LUAD | 1 | W181 | W181L | LUSC | 1 | W181 | W181C | LUSC | 1 | W135 | G134C | SKCM | 1 |
| 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 FCER1A |
| 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 | W181 | W181L | 0.047890927 | R136 | R136S | -1.0612652 | F85 | E86K | -1.0069337 | W135 | G134S | -0.4997907 | W181 | W181C | -0.41370781 | W135 | G134C | -0.27119586 |
| (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 FCER1A from PDB |
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| Differential gene expression and gene-gene network for FCER1A |
| 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 FCER1A |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0042109 | Urticaria | 3 | Biomarker |
| umls:C0013182 | Drug Hypersensitivity | 2 | Biomarker |
| umls:C0011609 | Drug Eruptions | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for FCER1A |
| 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|investigational | DB00043 | Omalizumab | Biotech |  |
| Approved | DB00895 | Benzylpenicilloyl Polylysine | Small molecule |  |
| Investigational | DB05797 | TNX-901 | Small molecule |  |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of FCER1A 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 FCER1A |
| Multiple alignments for P12319 in multiple species |
| LBS | AA sequence | # species | Species | D111 | LEVFSDWLLLQ | 1 | Homo sapiens | D111 | LNVTQDWLLLQ | 1 | Mus musculus | D111 | LNVMQEWLLLQ | 1 | Rattus norvegicus | F85 | IVNAKFEDSGE | 1 | Homo sapiens | F85 | IVSATVQDSGK | 1 | Mus musculus | F85 | IVSATIQDSGK | 1 | Rattus norvegicus | L183 | GKVWQLDYESE | 1 | Homo sapiens | L183 | GYLRQVKYESD | 1 | Mus musculus | L183 | GYLNKVECKSD | 1 | Rattus norvegicus | N82 | SLNIVNAKFED | 1 | Homo sapiens | N82 | HLVIVSATVQD | 1 | Mus musculus | N82 | HWVIVSATIQD | 1 | Rattus norvegicus | R136 | RCHGWRNWDVY | 1 | Homo sapiens | R136 | RCHGWKNWNVR | 1 | Mus musculus | R136 | RCRSWKKWKVH | 1 | Rattus norvegicus | S110 | YLEVFSDWLLL | 1 | Homo sapiens | S110 | YLNVTQDWLLL | 1 | Mus musculus | S110 | YLNVMQEWLLL | 1 | Rattus norvegicus | W112 | EVFSDWLLLQA | 1 | Homo sapiens | W112 | NVTQDWLLLQT | 1 | Mus musculus | W112 | NVMQEWLLLQS | 1 | Rattus norvegicus | W135 | LRCHGWRNWDV | 1 | Homo sapiens | W135 | IRCHGWKNWNV | 1 | Mus musculus | W135 | IRCRSWKKWKV | 1 | Rattus norvegicus | W138 | HGWRNWDVYKV | 1 | Homo sapiens | W138 | HGWKNWNVRKV | 1 | Mus musculus | W138 | RSWKKWKVHKV | 1 | Rattus norvegicus | W181 | CTGKVWQLDYE | 1 | Homo sapiens | W181 | CKGYLRQVKYE | 1 | Mus musculus | W181 | CTGYLNKVECK | 1 | Rattus norvegicus | Y185 | VWQLDYESEPL | 1 | Homo sapiens | Y185 | LRQVKYESDKF | 1 | Mus musculus | Y185 | LNKVECKSDKF | 1 | Rattus norvegicus |
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