mutLBSgeneDB

mutLBSgeneDB
mutated Ligand Binding Site gene DataBase

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Gene Summary

Ligand Binding Site Mutation Information

Protein Structure Related Information

Gene Expression and Gene-Gene Network

Phenotype Information

Pharmacological Information

Conservation Information for LBS

Gene summary for FCER1A
Gene summary
Basic gene Info.Gene symbolFCER1A
Gene nameFc fragment of IgE, high affinity I, receptor for; alpha polypeptide
SynonymsFCE1A|FcERI
CytomapUCSC genome browser: 1q23
Type of geneprotein-coding
RefGenesNM_002001.3,
DescriptionFc 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 date20141207
dbXrefs MIM : 147140
HGNC : HGNC
Ensembl : ENSG00000179639
HPRD : 00917
Vega : OTTHUMG00000037176
ProteinUniProt: P12319
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_FCER1A
BioGPS: 2205
PathwayNCI Pathway Interaction Database: FCER1A
KEGG: FCER1A
REACTOME: FCER1A
Pathway Commons: FCER1A
ContextiHOP: FCER1A
ligand binding site mutation search in PubMed: FCER1A
UCL Cancer Institute: FCER1A
Assigned class in mutLBSgeneDBC: This gene just belongs to mutLBSgenes.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez
GO IDGO TermPubMed ID


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Ligand binding site mutations for FCER1A

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
F85E86KBRCA1
W135G134SGBM1
R136R136SLUAD1
W181W181LLUSC1
W181W181CLUSC1
W135G134CSKCM1
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

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.
LBSAAchange of nsSNVRelative stability change
W181W181L0.047890927
R136R136S-1.0612652
F85E86K-1.0069337
W135G134S-0.4997907
W181W181C-0.41370781
W135G134C-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)
* Left PPI network was created from samples with mutations in the LBS of FCER1A and the right PPI network was created from samples without mutations in the LBS of FCER1A. Only genes with p-value < 0.05 are shown.
Red circle: input gene. Orange circle: LBSgene. Blue circle: other gene.


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Phenotype information for FCER1A
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0042109Urticaria3Biomarker
umls:C0013182Drug Hypersensitivity2Biomarker
umls:C0011609Drug Eruptions1Biomarker

Mutation level pathogenic information (ClinVar annotation)
Allele IDAA changeClinical significanceOriginPhenotype 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.

Gene-centered drug-gene interaction network
Drug information targeting mutLBSgene (Approved drugs only)
Drug statusDrugBank IDNameTypeDrug structure
Approved|investigationalDB00043OmalizumabBiotech
ApprovedDB00895Benzylpenicilloyl PolylysineSmall molecule
InvestigationalDB05797TNX-901Small molecule

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of FCER1A go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS


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Conservation information for LBS of FCER1A
Multiple alignments for P12319 in multiple species
LBSAA sequence# speciesSpecies
D111LEVFSDWLLLQ1Homo sapiens
D111LNVTQDWLLLQ1Mus musculus
D111LNVMQEWLLLQ1Rattus norvegicus
F85IVNAKFEDSGE1Homo sapiens
F85IVSATVQDSGK1Mus musculus
F85IVSATIQDSGK1Rattus norvegicus
L183GKVWQLDYESE1Homo sapiens
L183GYLRQVKYESD1Mus musculus
L183GYLNKVECKSD1Rattus norvegicus
N82SLNIVNAKFED1Homo sapiens
N82HLVIVSATVQD1Mus musculus
N82HWVIVSATIQD1Rattus norvegicus
R136RCHGWRNWDVY1Homo sapiens
R136RCHGWKNWNVR1Mus musculus
R136RCRSWKKWKVH1Rattus norvegicus
S110YLEVFSDWLLL1Homo sapiens
S110YLNVTQDWLLL1Mus musculus
S110YLNVMQEWLLL1Rattus norvegicus
W112EVFSDWLLLQA1Homo sapiens
W112NVTQDWLLLQT1Mus musculus
W112NVMQEWLLLQS1Rattus norvegicus
W135LRCHGWRNWDV1Homo sapiens
W135IRCHGWKNWNV1Mus musculus
W135IRCRSWKKWKV1Rattus norvegicus
W138HGWRNWDVYKV1Homo sapiens
W138HGWKNWNVRKV1Mus musculus
W138RSWKKWKVHKV1Rattus norvegicus
W181CTGKVWQLDYE1Homo sapiens
W181CKGYLRQVKYE1Mus musculus
W181CTGYLNKVECK1Rattus norvegicus
Y185VWQLDYESEPL1Homo sapiens
Y185LRQVKYESDKF1Mus musculus
Y185LNKVECKSDKF1Rattus norvegicus


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