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mutLBSgeneDB |
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| Gene summary for HNF1B |
 Gene summary |
| Basic gene Info. | Gene symbol | HNF1B |
| Gene name | HNF1 homeobox B | |
| Synonyms | FJHN|HNF-1B|HNF1beta|HNF2|HPC11|LF-B3|LFB3|MODY5|TCF-2|TCF2|VHNF1 | |
| Cytomap | UCSC genome browser: 17q12 | |
| Type of gene | protein-coding | |
| RefGenes | NM_000458.2, NM_001165923.2,NM_006481.1, | |
| Description | HNF-1-betaHNF1 beta Ahepatocyte nuclear factor 1-betahomeoprotein LFB3transcription factor 2, hepatic | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 189907 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000275410 | ||
| HPRD : 08926 | ||
| Vega : OTTHUMG00000188478 | ||
| Protein | UniProt: P35680 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_HNF1B | |
| BioGPS: 6928 | ||
| Pathway | NCI Pathway Interaction Database: HNF1B | |
| KEGG: HNF1B | ||
| REACTOME: HNF1B | ||
| Pathway Commons: HNF1B | ||
| Context | iHOP: HNF1B | |
| ligand binding site mutation search in PubMed: HNF1B | ||
| UCL Cancer Institute: HNF1B | ||
| Assigned class in mutLBSgeneDB | B: This gene belongs to targetable_mutLBSgenes. | |
| Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez |
| GO ID | GO Term | PubMed ID | GO:0001822 | kidney development | 21281489 | GO:0045893 | positive regulation of transcription, DNA-templated | 15509593 | GO:0060261 | positive regulation of transcription initiation from RNA polymerase II promoter | 15355349 |
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| Ligand binding site mutations for HNF1B |
| 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. |
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| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | N302 | N302K | KIRC | 2 | R304 | R304G | BRCA | 1 | S257,R261 | E259Q | COAD | 1 | N302,R304 | R303H | HNSC | 1 | R232 | R232H | OV | 1 | N302,R304 | R303S | SKCM | 1 | S151 | S151F | SKCM | 1 | S257,R261 | E259K | SKCM | 1 | W238 | G239W | 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 HNF1B |
| 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 | R304 | R304G | -1.3702424 | R232 | R232H | -1.3302139 | N302 | R303S | -0.86671094 | R304 | R303S | -0.86671094 | R304 | R303H | -0.75432738 | N302 | R303H | -0.75432738 | W238 | G239W | -0.667084 | R261 | E259Q | -0.52411231 | S257 | E259Q | -0.52411231 | R261 | E259K | -0.52312577 | S257 | E259K | -0.52312577 | N302 | N302K | -0.16564144 | S151 | S151F | -0.15268442 |
| (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 HNF1B from PDB |
| PDB ID | PDB title | PDB structure | 2H8R | Hepatocyte Nuclear Factor 1b bound to DNA: MODY5 Gene Product |  |
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| Differential gene expression and gene-gene network for HNF1B |
| 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 HNF1B |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0011860 | Diabetes Mellitus, Type 2 | 40 | AlteredExpression, Biomarker, GeneticVariation, Therapeutic |
| umls:C0431693 | Renal cysts and diabetes syndrome | 16 | Biomarker, GeneticVariation |
| umls:C0033578 | Prostatic Neoplasms | 9 | AlteredExpression, Biomarker, GeneticVariation |
| umls:C0007134 | Carcinoma, Renal Cell | 6 | Biomarker |
| umls:C1266042 | Chromophobe Renal Cell Carcinoma | 1 | Biomarker, GeneticVariation |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for HNF1B |
| 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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| Drug information targeting mutLBSgene (Approved drugs only) |
| Drug status | DrugBank ID | Name | Type | Drug structure |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of HNF1B go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | NUC | Nucleic Acids | 2h8r | B | S151 R232 R304 | NUC | Nucleic Acids | 2h8r | A | S151 S257 R261 R304 | NUC | Nucleic Acids | 2h8r | A | W238 N302 | NUC | Nucleic Acids | 2h8r | B | W238 N302 |
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| Conservation information for LBS of HNF1B |
| Multiple alignments for P35680 in multiple species |
| LBS | AA sequence | # species | Species | F236 | MRRNRFKWGPA | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | F236 | LRRNRFKWGPA | 1 | Danio rerio | H149 | GLNQSHLSQHL | 4 | Homo sapiens, Danio rerio, Mus musculus, Rattus norvegicus | K156 | SQHLNKGTPMK | 4 | Homo sapiens, Danio rerio, Mus musculus, Rattus norvegicus | K161 | KGTPMKTQKRA | 4 | Homo sapiens, Danio rerio, Mus musculus, Rattus norvegicus | K164 | PMKTQKRAALY | 4 | Homo sapiens, Danio rerio, Mus musculus, Rattus norvegicus | K237 | RRNRFKWGPAS | 4 | Homo sapiens, Danio rerio, Mus musculus, Rattus norvegicus | K305 | FANRRKEEAFR | 4 | Homo sapiens, Danio rerio, Mus musculus, Rattus norvegicus | N146 | DVTGLNQSHLS | 4 | Homo sapiens, Danio rerio, Mus musculus, Rattus norvegicus | N155 | LSQHLNKGTPM | 4 | Homo sapiens, Danio rerio, Mus musculus, Rattus norvegicus | N255 | YDRQKNPSKEE | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | N255 | YERQKNPSKEE | 1 | Danio rerio | N302 | YNWFANRRKEE | 4 | Homo sapiens, Danio rerio, Mus musculus, Rattus norvegicus | P135 | QQHNIPQREVV | 4 | Homo sapiens, Danio rerio, Mus musculus, Rattus norvegicus | P159 | LNKGTPMKTQK | 4 | Homo sapiens, Danio rerio, Mus musculus, Rattus norvegicus | Q136 | QHNIPQREVVD | 4 | Homo sapiens, Danio rerio, Mus musculus, Rattus norvegicus | Q147 | VTGLNQSHLSQ | 4 | Homo sapiens, Danio rerio, Mus musculus, Rattus norvegicus | R137 | HNIPQREVVDV | 4 | Homo sapiens, Danio rerio, Mus musculus, Rattus norvegicus | R232 | TNKKMRRNRFK | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | R232 | ACKKLRRNRFK | 1 | Danio rerio | R235 | KMRRNRFKWGP | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | R235 | KLRRNRFKWGP | 1 | Danio rerio | R261 | PSKEEREALVE | 4 | Homo sapiens, Danio rerio, Mus musculus, Rattus norvegicus | R295 | LVTEVRVYNWF | 4 | Homo sapiens, Danio rerio, Mus musculus, Rattus norvegicus | R304 | WFANRRKEEAF | 4 | Homo sapiens, Danio rerio, Mus musculus, Rattus norvegicus | S148 | TGLNQSHLSQH | 4 | Homo sapiens, Danio rerio, Mus musculus, Rattus norvegicus | S151 | NQSHLSQHLNK | 4 | Homo sapiens, Danio rerio, Mus musculus, Rattus norvegicus | S257 | RQKNPSKEERE | 4 | Homo sapiens, Danio rerio, Mus musculus, Rattus norvegicus | W238 | RNRFKWGPASQ | 4 | Homo sapiens, Danio rerio, Mus musculus, Rattus norvegicus | Y297 | TEVRVYNWFAN | 4 | Homo sapiens, Danio rerio, Mus musculus, Rattus norvegicus |
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