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 USF1
Gene summary
Basic gene Info.Gene symbolUSF1
Gene nameupstream transcription factor 1
SynonymsFCHL|FCHL1|HYPLIP1|MLTF|MLTFI|UEF|bHLHb11
CytomapUCSC genome browser: 1q22-q23
Type of geneprotein-coding
RefGenesNM_001276373.1,
NM_007122.4,NM_207005.2,
Descriptionclass B basic helix-loop-helix protein 11major late transcription factor 1upstream stimulatory factor 1
Modification date20141222
dbXrefs MIM : 191523
HGNC : HGNC
Ensembl : ENSG00000158773
HPRD : 01880
Vega : OTTHUMG00000031472
ProteinUniProt: P22415
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_USF1
BioGPS: 7391
PathwayNCI Pathway Interaction Database: USF1
KEGG: USF1
REACTOME: USF1
Pathway Commons: USF1
ContextiHOP: USF1
ligand binding site mutation search in PubMed: USF1
UCL Cancer Institute: USF1
Assigned class in mutLBSgeneDBB: This gene belongs to targetable_mutLBSgenes.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez
GO IDGO TermPubMed ID
GO:0006366transcription from RNA polymerase II promoter2249772
GO:0019086late viral transcription2249772
GO:0032869cellular response to insulin stimulus19303849


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Ligand binding site mutations for USF1
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.

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
R210R210HCOAD1
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 USF1
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
R210R210H-1.2108525
(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 USF1 from PDB

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Differential gene expression and gene-gene network for USF1
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 USF1 and the right PPI network was created from samples without mutations in the LBS of USF1. 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 USF1
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0020474Hyperlipidemia, Familial Combined29AlteredExpression, Biomarker, GeneticVariation

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

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Pharmacological information for USF1
Drug information targeting mutLBSgene (Approved drugs only)
Drug statusDrugBank IDNameTypeDrug structure

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of USF1 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
NUCNucleic Acids1an4AR210
NUCNucleic Acids1an4BR210


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Conservation information for LBS of USF1
Multiple alignments for P22415 in multiple species
LBSAA sequence# speciesSpecies
D213ERRRRDKINNW3Homo sapiens, Mus musculus, Bos taurus
E208QHNEVERRRRD3Homo sapiens, Mus musculus, Bos taurus
G241SGQSKGGILSK3Homo sapiens, Mus musculus, Bos taurus
K240KSGQSKGGILS3Homo sapiens, Mus musculus, Bos taurus
N205RRAQHNEVERR3Homo sapiens, Mus musculus, Bos taurus
N216RRDKINNWIVQ3Homo sapiens, Mus musculus, Bos taurus
Q203EKRRAQHNEVE3Homo sapiens, Mus musculus, Bos taurus
Q238STKSGQSKGGI3Homo sapiens, Mus musculus, Bos taurus
R200TRDEKRRAQHN3Homo sapiens, Mus musculus, Bos taurus
R209HNEVERRRRDK3Homo sapiens, Mus musculus, Bos taurus
R210NEVERRRRDKI3Homo sapiens, Mus musculus, Bos taurus
R211EVERRRRDKIN3Homo sapiens, Mus musculus, Bos taurus
R212VERRRRDKINN3Homo sapiens, Mus musculus, Bos taurus
S233DCSMESTKSGQ3Homo sapiens, Mus musculus, Bos taurus
S239TKSGQSKGGIL3Homo sapiens, Mus musculus, Bos taurus


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