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 HNF1A
Gene summary
Basic gene Info.Gene symbolHNF1A
Gene nameHNF1 homeobox A
SynonymsHNF-1A|HNF1|IDDM20|LFB1|MODY3|TCF-1|TCF1
CytomapUCSC genome browser: 12q24.2
Type of geneprotein-coding
RefGenesNM_000545.5,
DescriptionHNF-1-alphaalbumin proximal factorhepatic nuclear factor 1hepatocyte nuclear factor 1-alphainterferon production regulator factorliver-specific transcription factor LF-B1transcription factor 1, hepatic
Modification date20141207
dbXrefs MIM : 142410
HGNC : HGNC
Ensembl : ENSG00000135100
HPRD : 00800
Vega : OTTHUMG00000151015
ProteinUniProt: P20823
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_HNF1A
BioGPS: 6927
PathwayNCI Pathway Interaction Database: HNF1A
KEGG: HNF1A
REACTOME: HNF1A
Pathway Commons: HNF1A
ContextiHOP: HNF1A
ligand binding site mutation search in PubMed: HNF1A
UCL Cancer Institute: HNF1A
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:0006357regulation of transcription from RNA polymerase II promoter10330009
GO:0045893positive regulation of transcription, DNA-templated11980910


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Ligand binding site mutations for HNF1A
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
R131R131WCOAD1
M154M154TCOAD1
R131R131LCOAD1
P129N127SCOAD1
R131R131LGBM1
Y265,R263V264IHNSC1
K158R159LLUAD1
R272R272SLUSC1
K158A160DSKCM1
R131R131QUCEC1
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 HNF1A
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
R272R272S-1.188286
R131R131Q-1.1703207
Y265V264I-1.1465693
R263V264I-1.1465693
M154M154T-1.0614292
R131R131W-0.83305821
R131R131L-0.61159279
K158A160D-0.50486003
P129N127S-0.36485015
K158R159L-0.12922618
(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 HNF1A from PDB

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Differential gene expression and gene-gene network for HNF1A
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 HNF1A and the right PPI network was created from samples without mutations in the LBS of HNF1A. 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 HNF1A
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0011860Diabetes Mellitus, Type 2132AlteredExpression, Biomarker, GeneticVariation
umls:C0011854Diabetes Mellitus, Type 126Biomarker, GeneticVariation
umls:C1838100Maturity-Onset Diabetes of the Young, Type 317Biomarker, GeneticVariation
umls:C0020615Hypoglycemia6Biomarker, GeneticVariation
umls:C0007134Carcinoma, Renal Cell2Biomarker

Mutation level pathogenic information (ClinVar annotation)
Allele IDAA changeClinical significanceOriginPhenotype IDs
29982R131WPathogenicGermlineMedGen:C1838100
OMIM:600496
Orphanet:ORPHA552

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Pharmacological information for HNF1A
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
ExperimentalDB04419NorleucineSmall molecule

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of HNF1A go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
NUCNucleic Acids1ic8AM154 K158 R263
NUCNucleic Acids1ic8BM154 K158 R263
NUCNucleic Acids1ic8AP129 R131 Y265 R272
NUCNucleic Acids1ic8BP129 R131 Y265 R272


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Conservation information for LBS of HNF1A
Multiple alignments for P20823 in multiple species
LBSAA sequence# speciesSpecies
F204GRRNRFKWGPA3Homo sapiens, Mus musculus, Rattus norvegicus
H143GLNQSHLSQHL3Homo sapiens, Mus musculus, Rattus norvegicus
K150SQHLNKGTPMK3Homo sapiens, Mus musculus, Rattus norvegicus
K155KGTPMKTQKRA3Homo sapiens, Mus musculus, Rattus norvegicus
K158PMKTQKRAALY3Homo sapiens, Mus musculus, Rattus norvegicus
K205RRNRFKWGPAS3Homo sapiens, Mus musculus, Rattus norvegicus
K273FANRRKEEAFR3Homo sapiens, Mus musculus, Rattus norvegicus
M154NKGTPMKTQKR3Homo sapiens, Mus musculus, Rattus norvegicus
N140DTTGLNQSHLS3Homo sapiens, Mus musculus, Rattus norvegicus
N266EVRVYNWFANR3Homo sapiens, Mus musculus, Rattus norvegicus
N270YNWFANRRKEE3Homo sapiens, Mus musculus, Rattus norvegicus
P129QQHNIPQREVV3Homo sapiens, Mus musculus, Rattus norvegicus
P153LNKGTPMKTQK3Homo sapiens, Mus musculus, Rattus norvegicus
P224ERQKNPSKEER3Homo sapiens, Mus musculus, Rattus norvegicus
Q130QHNIPQREVVD3Homo sapiens, Mus musculus, Rattus norvegicus
Q141TTGLNQSHLSQ3Homo sapiens, Mus musculus, Rattus norvegicus
Q146QSHLSQHLNKG3Homo sapiens, Mus musculus, Rattus norvegicus
R131HNIPQREVVDT3Homo sapiens, Mus musculus, Rattus norvegicus
R203KGRRNRFKWGP3Homo sapiens, Mus musculus, Rattus norvegicus
R263LVTEVRVYNWF3Homo sapiens, Mus musculus, Rattus norvegicus
R272WFANRRKEEAF3Homo sapiens, Mus musculus, Rattus norvegicus
S142TGLNQSHLSQH3Homo sapiens, Mus musculus, Rattus norvegicus
S145NQSHLSQHLNK3Homo sapiens, Mus musculus, Rattus norvegicus
T152HLNKGTPMKTQ3Homo sapiens, Mus musculus, Rattus norvegicus
W206RNRFKWGPASQ3Homo sapiens, Mus musculus, Rattus norvegicus
Y265TEVRVYNWFAN3Homo sapiens, Mus musculus, Rattus norvegicus


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