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mutLBSgeneDB |
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| Gene summary for HNF1A |
 Gene summary |
| Basic gene Info. | Gene symbol | HNF1A |
| Gene name | HNF1 homeobox A | |
| Synonyms | HNF-1A|HNF1|IDDM20|LFB1|MODY3|TCF-1|TCF1 | |
| Cytomap | UCSC genome browser: 12q24.2 | |
| Type of gene | protein-coding | |
| RefGenes | NM_000545.5, | |
| Description | HNF-1-alphaalbumin proximal factorhepatic nuclear factor 1hepatocyte nuclear factor 1-alphainterferon production regulator factorliver-specific transcription factor LF-B1transcription factor 1, hepatic | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 142410 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000135100 | ||
| HPRD : 00800 | ||
| Vega : OTTHUMG00000151015 | ||
| Protein | UniProt: P20823 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_HNF1A | |
| BioGPS: 6927 | ||
| Pathway | NCI Pathway Interaction Database: HNF1A | |
| KEGG: HNF1A | ||
| REACTOME: HNF1A | ||
| Pathway Commons: HNF1A | ||
| Context | iHOP: HNF1A | |
| ligand binding site mutation search in PubMed: HNF1A | ||
| UCL Cancer Institute: HNF1A | ||
| 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:0006357 | regulation of transcription from RNA polymerase II promoter | 10330009 | GO:0045893 | positive regulation of transcription, DNA-templated | 11980910 |
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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. |
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| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | R131 | R131W | COAD | 1 | M154 | M154T | COAD | 1 | R131 | R131L | COAD | 1 | P129 | N127S | COAD | 1 | R131 | R131L | GBM | 1 | Y265,R263 | V264I | HNSC | 1 | K158 | R159L | LUAD | 1 | R272 | R272S | LUSC | 1 | K158 | A160D | SKCM | 1 | R131 | R131Q | UCEC | 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 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 |
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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 | R272 | R272S | -1.188286 | R131 | R131Q | -1.1703207 | Y265 | V264I | -1.1465693 | R263 | V264I | -1.1465693 | M154 | M154T | -1.0614292 | R131 | R131W | -0.83305821 | R131 | R131L | -0.61159279 | K158 | A160D | -0.50486003 | P129 | N127S | -0.36485015 | K158 | R159L | -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) |
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| Phenotype information for HNF1A |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0011860 | Diabetes Mellitus, Type 2 | 132 | AlteredExpression, Biomarker, GeneticVariation |
| umls:C0011854 | Diabetes Mellitus, Type 1 | 26 | Biomarker, GeneticVariation |
| umls:C1838100 | Maturity-Onset Diabetes of the Young, Type 3 | 17 | Biomarker, GeneticVariation |
| umls:C0020615 | Hypoglycemia | 6 | Biomarker, GeneticVariation |
| umls:C0007134 | Carcinoma, Renal Cell | 2 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
| 29982 | R131W | Pathogenic | Germline | MedGen: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. |
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| Gene-centered drug-gene interaction network |
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| Drug information targeting mutLBSgene (Approved drugs only) |
| Drug status | DrugBank ID | Name | Type | Drug structure |
| Experimental | DB04419 | Norleucine | Small molecule |  |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of HNF1A go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | NUC | Nucleic Acids | 1ic8 | A | M154 K158 R263 | NUC | Nucleic Acids | 1ic8 | B | M154 K158 R263 | NUC | Nucleic Acids | 1ic8 | A | P129 R131 Y265 R272 | NUC | Nucleic Acids | 1ic8 | B | P129 R131 Y265 R272 |
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| Conservation information for LBS of HNF1A |
| Multiple alignments for P20823 in multiple species |
| LBS | AA sequence | # species | Species | F204 | GRRNRFKWGPA | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | H143 | GLNQSHLSQHL | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | K150 | SQHLNKGTPMK | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | K155 | KGTPMKTQKRA | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | K158 | PMKTQKRAALY | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | K205 | RRNRFKWGPAS | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | K273 | FANRRKEEAFR | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | M154 | NKGTPMKTQKR | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | N140 | DTTGLNQSHLS | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | N266 | EVRVYNWFANR | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | N270 | YNWFANRRKEE | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | P129 | QQHNIPQREVV | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | P153 | LNKGTPMKTQK | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | P224 | ERQKNPSKEER | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | Q130 | QHNIPQREVVD | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | Q141 | TTGLNQSHLSQ | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | Q146 | QSHLSQHLNKG | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | R131 | HNIPQREVVDT | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | R203 | KGRRNRFKWGP | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | R263 | LVTEVRVYNWF | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | R272 | WFANRRKEEAF | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | S142 | TGLNQSHLSQH | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | S145 | NQSHLSQHLNK | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | T152 | HLNKGTPMKTQ | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | W206 | RNRFKWGPASQ | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | Y265 | TEVRVYNWFAN | 3 | Homo sapiens, Mus musculus, Rattus norvegicus |
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