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mutLBSgeneDB |
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| Gene summary for HBE1 |
 Gene summary |
| Basic gene Info. | Gene symbol | HBE1 |
| Gene name | hemoglobin, epsilon 1 | |
| Synonyms | HBE | |
| Cytomap | UCSC genome browser: 11p15.5 | |
| Type of gene | protein-coding | |
| RefGenes | NM_005330.3, | |
| Description | epsilon globinepsilon-globinhemoglobin epsilon chainhemoglobin subunit epsilon | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 142100 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000213931 | ||
| HPRD : 00788 | ||
| Protein | UniProt: P02100 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_HBE1 | |
| BioGPS: 3046 | ||
| Pathway | NCI Pathway Interaction Database: HBE1 | |
| KEGG: HBE1 | ||
| REACTOME: HBE1 | ||
| Pathway Commons: HBE1 | ||
| Context | iHOP: HBE1 | |
| ligand binding site mutation search in PubMed: HBE1 | ||
| UCL Cancer Institute: HBE1 | ||
| Assigned class in mutLBSgeneDB | C: This gene just belongs to mutLBSgenes. | |
| Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez |
| GO ID | GO Term | PubMed ID |
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| Ligand binding site mutations for HBE1 |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | T39 | T39P | COAD | 1 | T39 | Q40K | HNSC | 1 | L142 | A141S | LUSC | 1 | L142 | A143V | LUSC | 1 | F46 | G47E | SKCM | 1 | F43 | D44N | STAD | 1 | S71 | L69P | STAD | 1 | L97 | K96T | UCEC | 1 | F42 | F42S | 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 HBE1 |
| 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 | S71 | L69P | -1.0381441 | F42 | F42S | -0.98811723 | L142 | A141S | -0.88857894 | F43 | D44N | -0.75056211 | L97 | K96T | -0.7461 | T39 | Q40K | -0.60866118 | T39 | T39P | -0.51991736 | L142 | A143V | -0.48030632 | F46 | G47E | -0.17066895 |
| (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 HBE1 from PDB |
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| Differential gene expression and gene-gene network for HBE1 |
| 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 HBE1 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for HBE1 |
| 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 HBE1 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | HEM | HEME B | 1a9w | E | F42 | HEM | HEME B | 1a9w | F | F42 |
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| Conservation information for LBS of HBE1 |
| Multiple alignments for P02100 in multiple species |
| LBS | AA sequence | # species | Species | F104 | VDPENFKLLGN | 4 | Homo sapiens, Mus musculus, Pan troglodytes, Macaca mulatta | F104 | VDPDNFRLLAD | 2 | Danio rerio, Danio rerio | F104 | VDPENFRLLGD | 2 | Gallus gallus, Gallus gallus | F104 | VDPENFRLLGN | 2 | Bos taurus, Bos taurus | F42 | PWTQRFFDSFG | 5 | Homo sapiens, Bos taurus, Bos taurus, Pan troglodytes, Macaca mulatta | F42 | PWTQRYFATFG | 2 | Danio rerio, Danio rerio | F42 | PWTQRFFASFG | 2 | Gallus gallus, Gallus gallus | F42 | PWTQRFFDKFG | 1 | Mus musculus | F43 | WTQRFFDSFGN | 5 | Homo sapiens, Bos taurus, Bos taurus, Pan troglodytes, Macaca mulatta | F43 | WTQRYFATFGN | 2 | Danio rerio, Danio rerio | F43 | WTQRFFASFGN | 2 | Gallus gallus, Gallus gallus | F43 | WTQRFFDKFGN | 1 | Mus musculus | F46 | RFFDSFGNLSS | 3 | Homo sapiens, Pan troglodytes, Macaca mulatta | F46 | RYFATFGNLSS | 2 | Danio rerio, Danio rerio | F46 | RFFASFGNLSS | 2 | Gallus gallus, Gallus gallus | F46 | RFFDSFGNLYS | 2 | Bos taurus, Bos taurus | F46 | RFFDKFGNLSS | 1 | Mus musculus | H64 | PKVKAHGKKVL | 3 | Homo sapiens, Pan troglodytes, Macaca mulatta | H64 | PKVAAHGRTVM | 2 | Danio rerio, Danio rerio | H64 | PMVRAHGKKVL | 1 | Gallus gallus | H64 | PRVRAHGKKVL | 1 | Gallus gallus | H64 | PKVKAHGRKVL | 1 | Bos taurus | H64 | PKVKVYGRKVL | 1 | Bos taurus | H64 | PRIRAHGKKVL | 1 | Mus musculus | H93 | KLSELHCDKLH | 4 | Homo sapiens, Gallus gallus, Pan troglodytes, Macaca mulatta | H93 | ALSVMHSEKLH | 2 | Danio rerio, Danio rerio | H93 | DLSELHCDKLH | 2 | Bos taurus, Bos taurus | H93 | QLSELHCDKLH | 1 | Gallus gallus | H93 | HLSELHCDKLH | 1 | Mus musculus | L107 | ENFKLLGNVMV | 3 | Homo sapiens, Pan troglodytes, Macaca mulatta | L107 | DNFRLLADCIT | 2 | Danio rerio, Danio rerio | L107 | ENFRLLGDILI | 2 | Gallus gallus, Gallus gallus | L107 | ENFRLLGNMIL | 2 | Bos taurus, Bos taurus | L107 | ENFKLLGNMLV | 1 | Mus musculus | L142 | AVAIALAHKYH | 3 | Homo sapiens, Pan troglodytes, Macaca mulatta | L142 | VVVSALCRQYH | 2 | Danio rerio, Danio rerio | L142 | VVAHALARKYH | 2 | Gallus gallus, Gallus gallus | L142 | AVANALAHKYH | 1 | Bos taurus | L142 | AVANALTHKYH | 1 | Bos taurus | L142 | GVANALSHKYH | 1 | Mus musculus | L92 | AKLSELHCDKL | 4 | Homo sapiens, Gallus gallus, Pan troglodytes, Macaca mulatta | L92 | AALSVMHSEKL | 2 | Danio rerio, Danio rerio | L92 | ADLSELHCDKL | 2 | Bos taurus, Bos taurus | L92 | SQLSELHCDKL | 1 | Gallus gallus | L92 | AHLSELHCDKL | 1 | Mus musculus | L97 | LHCDKLHVDPE | 8 | Homo sapiens, Gallus gallus, Gallus gallus, Bos taurus, Bos taurus, Mus musculus, Pan troglodytes, Macaca mulatta | L97 | MHSEKLHVDPD | 2 | Danio rerio, Danio rerio | N103 | HVDPENFKLLG | 4 | Homo sapiens, Mus musculus, Pan troglodytes, Macaca mulatta | N103 | HVDPENFRLLG | 4 | Gallus gallus, Gallus gallus, Bos taurus, Bos taurus | N103 | HVDPDNFRLLA | 2 | Danio rerio, Danio rerio | S71 | KKVLTSFGDAI | 3 | Homo sapiens, Pan troglodytes, Macaca mulatta | S71 | RTVMGGLERAI | 2 | Danio rerio, Danio rerio | S71 | RKVLNSFGNAI | 2 | Bos taurus, Bos taurus | S71 | KKVLTSFGDAV | 1 | Gallus gallus | S71 | KKVLSSFGEAV | 1 | Gallus gallus | S71 | KKVLTSLGLGV | 1 | Mus musculus | T39 | VVYPWTQRFFD | 3 | Homo sapiens, Pan troglodytes, Macaca mulatta | T39 | IVYPWTQRYFA | 2 | Danio rerio, Danio rerio | T39 | IVYPWTQRFFA | 2 | Gallus gallus, Gallus gallus | T39 | IVYPWTQRFFD | 2 | Bos taurus, Mus musculus | T39 | IVCPWTQRFFD | 1 | Bos taurus | V99 | CDKLHVDPENF | 8 | Homo sapiens, Gallus gallus, Gallus gallus, Bos taurus, Bos taurus, Mus musculus, Pan troglodytes, Macaca mulatta | V99 | SEKLHVDPDNF | 2 | Danio rerio, Danio rerio |
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