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 IFNB1
Gene summary
Basic gene Info.Gene symbolIFNB1
Gene nameinterferon, beta 1, fibroblast
CytomapUCSC genome browser: 9p21
Type of geneprotein-coding
DescriptionIFN-betafibroblast interferoninterferon beta
Modification date20141207
dbXrefs MIM : 147640
Ensembl : ENSG00000171855
HPRD : 00972
Vega : OTTHUMG00000019652
ProteinUniProt: P01574
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_IFNB1
BioGPS: 3456
PathwayNCI Pathway Interaction Database: IFNB1
Pathway Commons: IFNB1
ContextiHOP: IFNB1
ligand binding site mutation search in PubMed: IFNB1
UCL Cancer Institute: IFNB1
Assigned class in mutLBSgeneDBC: This gene just belongs to mutLBSgenes.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez
GO:0033141positive regulation of peptidyl-serine phosphorylation of STAT protein18035482
GO:0035458cellular response to interferon-beta18035482
GO:0043330response to exogenous dsRNA21266579
GO:0045071negative regulation of viral genome replication19008854
GO:0045581negative regulation of T cell differentiation20554961
GO:0045944positive regulation of transcription from RNA polymerase II promoter18035482
GO:0060337type I interferon signaling pathway18035482
GO:2000552negative regulation of T-helper 2 cell cytokine production20554961
GO:2001235positive regulation of apoptotic signaling pathway10918594

Ligand binding site mutations for IFNB1

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
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.

Protein structure related information for IFNB1
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
(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 IFNB1 from PDB

Differential gene expression and gene-gene network for IFNB1
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 IFNB1 and the right PPI network was created from samples without mutations in the LBS of IFNB1. Only genes with p-value < 0.05 are shown.
Red circle: input gene. Orange circle: LBSgene. Blue circle: other gene.


Phenotype information for IFNB1
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0026769Multiple Sclerosis149Biomarker, GeneticVariation, Therapeutic
umls:C0025202Melanoma37AlteredExpression, Biomarker, GeneticVariation, Therapeutic
umls:C0019163Hepatitis B6Biomarker, Therapeutic
umls:C1458155Breast Neoplasms3Biomarker, Therapeutic
umls:C0006111Brain Diseases2Biomarker
umls:C0027819Neuroblastoma2Biomarker, Therapeutic
umls:C0003463Anus Neoplasms2Therapeutic
umls:C0206735Melanoma, Amelanotic1Therapeutic
umls:C0025205Melanoma, Experimental1Therapeutic

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

Pharmacological information for IFNB1
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
ExperimentalDB02379Beta-D-GlucoseSmall molecule

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of IFNB1 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS

Conservation information for LBS of IFNB1
Multiple alignments for P01574 in multiple species
LBSAA sequence# speciesSpecies
H114LANVYHQINHL1Homo sapiens
H114LDELHQQTVFL1Mus musculus
H114LDELHQQTELL1Rattus norvegicus
H118YHQINHLKTVL1Homo sapiens
H118HQQTVFLKTVL1Mus musculus
H118HQQTELLEIIL1Rattus norvegicus
N101SSTGWNETIVE2Homo sapiens, Rattus norvegicus
N101SSTGWNETIVV1Mus musculus
N107ETIVENLLANV1Homo sapiens
N107ETIVVRLLDEL1Mus musculus
N107ETIVESLLDEL1Rattus norvegicus
Q44QKLLWQLNGRL1Homo sapiens
Q44QELLEQLNGKI1Mus musculus
Q44QKLLRQLNGRL1Rattus norvegicus
T103TGWNETIVENL1Homo sapiens
T103TGWNETIVVRL1Mus musculus
T103TGWNETIVESL1Rattus norvegicus

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