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mutLBSgeneDB |
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| Gene summary for FOXA3 |
 Gene summary |
| Basic gene Info. | Gene symbol | FOXA3 |
| Gene name | forkhead box A3 | |
| Synonyms | FKHH3|HNF3G|TCF3G | |
| Cytomap | UCSC genome browser: 19q13.32 | |
| Type of gene | protein-coding | |
| RefGenes | NM_004497.2, | |
| Description | HNF-3-gammaHNF-3GTCF-3Gfork head-related protein FKH H3forkhead box protein A3hepatocyte nuclear factor 3, gammahepatocyte nuclear factor 3-gammatranscription factor 3G | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 602295 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000170608 | ||
| HPRD : 03802 | ||
| Vega : OTTHUMG00000182484 | ||
| Protein | UniProt: P55318 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_FOXA3 | |
| BioGPS: 3171 | ||
| Pathway | NCI Pathway Interaction Database: FOXA3 | |
| KEGG: FOXA3 | ||
| REACTOME: FOXA3 | ||
| Pathway Commons: FOXA3 | ||
| Context | iHOP: FOXA3 | |
| ligand binding site mutation search in PubMed: FOXA3 | ||
| UCL Cancer Institute: FOXA3 | ||
| 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:0045944 | positive regulation of transcription from RNA polymerase II promoter | 12695546 |
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| Ligand binding site mutations for FOXA3 |
| 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 | S121 | P119L | BLCA | 1 | R209 | R209H | GBM | 1 | L140 | E142D | PRAD | 1 | H167,L169 | S168L | 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 FOXA3 |
| 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 | L169 | S168L | 0.061300899 | H167 | S168L | 0.061300899 | R209 | R209H | -1.1878811 | L140 | E142D | -0.66981709 | S121 | P119L | -0.5421753 |
| (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 FOXA3 from PDB |
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| Differential gene expression and gene-gene network for FOXA3 |
| 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 FOXA3 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0033578 | Prostatic Neoplasms | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for FOXA3 |
| 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 FOXA3 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS |
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| Conservation information for LBS of FOXA3 |
| Multiple alignments for P55318 in multiple species |
| LBS | AA sequence | # species | Species | F175 | SFNDCFVKVAR | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | H167 | QNSIRHSLSFN | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | K177 | NDCFVKVARSP | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | L140 | GKMLTLSEIYQ | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | L169 | SIRHSLSFNDC | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | L207 | ENGCYLRRQKR | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | N163 | QQRWQNSIRHS | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | N172 | HSLSFNDCFVK | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | R160 | RENQQRWQNSI | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | R166 | WQNSIRHSLSF | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | R208 | NGCYLRRQKRF | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | R209 | GCYLRRQKRFK | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | S121 | AKPPYSYISLI | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | S164 | QRWQNSIRHSL | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | S170 | IRHSLSFNDCF | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | S189 | KPGKGSYWALH | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | W191 | GKGSYWALHPS | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | Y122 | KPPYSYISLIT | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus |
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