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mutLBSgeneDB |
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| Gene summary for EPAS1 |
 Gene summary |
| Basic gene Info. | Gene symbol | EPAS1 |
| Gene name | endothelial PAS domain protein 1 | |
| Synonyms | ECYT4|HIF2A|HLF|MOP2|PASD2|bHLHe73 | |
| Cytomap | UCSC genome browser: 2p21-p16 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001430.4, | |
| Description | EPAS-1HIF-1-alpha-like factorHIF-1alpha-like factorHIF-2-alphaHIF2-alphaPAS domain-containing protein 2basic-helix-loop-helix-PAS protein MOP2class E basic helix-loop-helix protein 73endothelial PAS domain-containing protein 1hypoxia-inducible fa | |
| Modification date | 20141222 | |
| dbXrefs | MIM : 603349 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000116016 | ||
| HPRD : 06787 | ||
| Vega : OTTHUMG00000128818 | ||
| Protein | UniProt: Q99814 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_EPAS1 | |
| BioGPS: 2034 | ||
| Pathway | NCI Pathway Interaction Database: EPAS1 | |
| KEGG: EPAS1 | ||
| REACTOME: EPAS1 | ||
| Pathway Commons: EPAS1 | ||
| Context | iHOP: EPAS1 | |
| ligand binding site mutation search in PubMed: EPAS1 | ||
| UCL Cancer Institute: EPAS1 | ||
| 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:0001666 | response to hypoxia | 11782478 | GO:0045944 | positive regulation of transcription from RNA polymerase II promoter | 11573933 | GO:0071456 | cellular response to hypoxia | 11573933 |
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| Ligand binding site mutations for EPAS1 |
| 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 | G323 | T324M | COAD | 1 | A277 | A277P | LUSC | 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 EPAS1 |
| 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 | A277 | A277P | -0.67461849 | G323 | T324M | -0.61710882 |
| (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 EPAS1 from PDB |
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| Differential gene expression and gene-gene network for EPAS1 |
| 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 EPAS1 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0007134 | Carcinoma, Renal Cell | 17 | AlteredExpression, Biomarker, GeneticVariation |
| umls:C2673187 | Erythrocytosis, Familial, 4 | 4 | Biomarker, GeneticVariation |
| umls:C0007621 | Cell Transformation, Neoplastic | 1 | Biomarker |
| umls:C0008625 | Chromosome Aberrations | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for EPAS1 |
| 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 |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of EPAS1 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | 2XY | N-[2-NITRO-4-(TRIFLUOROMETHYL)PHENYL]MORPHOLIN-4-AMINE | 3f1o | A | A277 | 018 | 2-NITRO-N-(THIOPHEN-3-YLMETHYL)-4-(TRIFLUOROMETHYL)ANILINE | 3h7w | A | A277 | 020 | N-(FURAN-2-YLMETHYL)-2-NITRO-4-(TRIFLUOROMETHYL)ANILINE | 3h82 | A | A277 | 0X3 | N-(3-CHLORO-5-FLUOROPHENYL)-4-NITRO-2,1,3- BENZOXADIAZOL-5-AMINE | 4ghi | A | A277 | 0XB | N-(3-FLUOROPHENYL)-4-NITRO-2,1,3-BENZOXADIAZOL-5-AMINE | 4gs9 | A | A277 | 43L | (5S,7R)-5,7-BIS(3-BROMOPHENYL)-4,5,6,7- TETRAHYDROTETRAZOLO[1,5-A]PYRIMIDINE | 4xt2 | A | A277 G323 | 43L | (5S,7R)-5,7-BIS(3-BROMOPHENYL)-4,5,6,7- TETRAHYDROTETRAZOLO[1,5-A]PYRIMIDINE | 4xt2 | C | A277 G323 |
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| Conservation information for LBS of EPAS1 |
| Multiple alignments for Q99814 in multiple species |
| LBS | AA sequence | # species | Species | A277 | LLGRSAYEFYH | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | A283 | YEFYHALDSEN | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | C339 | PQCIMCVNYVL | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | E279 | GRSAYEFYHAL | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | F254 | SMDMKFTYCDD | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | F280 | RSAYEFYHALD | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | G323 | WLETQGTVIYN | 2 | Homo sapiens, Mus musculus | G323 | WLETQGTVVYN | 1 | Rattus norvegicus | H248 | TFLSRHSMDMK | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | H293 | NMTKSHQNLCT | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | I337 | LQPQCIMCVNY | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | L296 | KSHQNLCTKGQ | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | L319 | GGYVWLETQGT | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | M252 | RHSMDMKFTYC | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | M289 | LDSENMTKSHQ | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | M309 | SGQYRMLAKHG | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | N341 | CIMCVNYVLSE | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | S286 | YHALDSENMTK | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | S292 | ENMTKSHQNLC | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | S304 | KGQVVSGQYRM | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | T321 | YVWLETQGTVI | 2 | Homo sapiens, Mus musculus | T321 | YVWLETQGTVV | 1 | Rattus norvegicus | V302 | CTKGQVVSGQY | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | V303 | TKGQVVSGQYR | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | Y278 | LGRSAYEFYHA | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | Y281 | SAYEFYHALDS | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | Y307 | VVSGQYRMLAK | 3 | Homo sapiens, Mus musculus, Rattus norvegicus |
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