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mutLBSgeneDB |
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| Gene summary for SELE |
 Gene summary |
| Basic gene Info. | Gene symbol | SELE |
| Gene name | selectin E | |
| Synonyms | CD62E|ELAM|ELAM1|ESEL|LECAM2 | |
| Cytomap | UCSC genome browser: 1q22-q25 | |
| Type of gene | protein-coding | |
| RefGenes | NM_000450.2, | |
| Description | CD62 antigen-like family member EE-selectinELAM-1endothelial adhesion molecule 1endothelial leukocyte adhesion molecule 1leukocyte endothelial cell adhesion molecule 2leukocyte-endothelial cell adhesion molecule 2 | |
| Modification date | 20141222 | |
| dbXrefs | MIM : 131210 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000007908 | ||
| HPRD : 00566 | ||
| Vega : OTTHUMG00000034851 | ||
| Protein | UniProt: P16581 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_SELE | |
| BioGPS: 6401 | ||
| Pathway | NCI Pathway Interaction Database: SELE | |
| KEGG: SELE | ||
| REACTOME: SELE | ||
| Pathway Commons: SELE | ||
| Context | iHOP: SELE | |
| ligand binding site mutation search in PubMed: SELE | ||
| UCL Cancer Institute: SELE | ||
| 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 | GO:0002092 | positive regulation of receptor internalization | 9312078 | GO:0007159 | leukocyte cell-cell adhesion | 7680663 | GO:0030029 | actin filament-based process | 8609175 | GO:0070555 | response to interleukin-1 | 8609175 |
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| Ligand binding site mutations for SELE |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | Q41 | Q42E | LUSC | 1 | E113 | E113K | SKCM | 1 | Y69 | P67S | SKCM | 1 | E57 | I56V | STAD | 1 | Y69 | Y70H | 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 SELE |
| 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 | Y69 | Y70H | -1.3109127 | E57 | I56V | -0.80087225 | Y69 | P67S | -0.7490878 | E113 | E113K | -0.63997246 | Q41 | Q42E | -0.093434682 |
| (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 SELE from PDB |
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| Differential gene expression and gene-gene network for SELE |
| 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 SELE |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0007222 | Cardiovascular Diseases | 9 | Biomarker, GeneticVariation |
| umls:C0035126 | Reperfusion Injury | 3 | Biomarker |
| umls:C0020443 | Hypercholesterolemia | 3 | Biomarker, GeneticVariation |
| umls:C0026769 | Multiple Sclerosis | 3 | Biomarker, GeneticVariation |
| umls:C0007786 | Brain Ischemia | 3 | Biomarker, GeneticVariation |
| umls:C0017661 | Glomerulonephritis, IGA | 2 | Biomarker, GeneticVariation |
| umls:C0011615 | Dermatitis, Atopic | 2 | Biomarker |
| umls:C0004238 | Atrial Fibrillation | 2 | AlteredExpression, Biomarker |
| umls:C0151744 | Myocardial Ischemia | 2 | Biomarker, GeneticVariation |
| umls:C0085580 | Hypertension, Essential | 2 | Biomarker, GeneticVariation |
| umls:C0162820 | Dermatitis, Allergic Contact | 1 | Biomarker |
| umls:C0031117 | Peripheral Nervous System Diseases | 1 | Biomarker |
| umls:C0042109 | Urticaria | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for SELE |
| 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 |
| Approved|investigational | DB01136 | Carvedilol | Small molecule |  |
| Experimental | DB03721 | O-Sialic Acid | Small molecule |  |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of SELE 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 SELE |
| Multiple alignments for P16581 in multiple species |
| LBS | AA sequence | # species | Species | D127 | VGMWNDERCSK | 1 | Homo sapiens | D127 | SGMWNDERCNK | 1 | Mus musculus | D127 | SGMWNDERCDK | 1 | Rattus norvegicus | E101 | NWAPGEPNNKQ | 2 | Mus musculus, Rattus norvegicus | E101 | NWAPGEPNNRQ | 1 | Homo sapiens | E109 | NKQRNEDCVEI | 2 | Mus musculus, Rattus norvegicus | E109 | NRQKDEDCVEI | 1 | Homo sapiens | E113 | NEDCVEIYIQR | 2 | Mus musculus, Rattus norvegicus | E113 | DEDCVEIYIKR | 1 | Homo sapiens | E119 | IYIKREKDVGM | 1 | Homo sapiens | E119 | IYIQRTKDSGM | 1 | Mus musculus | E119 | IYIQRPKDSGM | 1 | Rattus norvegicus | E128 | GMWNDERCSKK | 1 | Homo sapiens | E128 | GMWNDERCNKK | 1 | Mus musculus | E128 | GMWNDERCDKK | 1 | Rattus norvegicus | E54 | AIQNKEEINYL | 2 | Mus musculus, Rattus norvegicus | E54 | AIQNKEEIEYL | 1 | Homo sapiens | E57 | NKEEIEYLNSI | 1 | Homo sapiens | E57 | NKEEINYLNSN | 1 | Mus musculus | E57 | NKEEINYLNST | 1 | Rattus norvegicus | K120 | YIKREKDVGMW | 1 | Homo sapiens | K120 | YIQRTKDSGMW | 1 | Mus musculus | K120 | YIQRPKDSGMW | 1 | Rattus norvegicus | N103 | APGEPNNKQRN | 2 | Mus musculus, Rattus norvegicus | N103 | APGEPNNRQKD | 1 | Homo sapiens | N104 | PGEPNNKQRNE | 2 | Mus musculus, Rattus norvegicus | N104 | PGEPNNRQKDE | 1 | Homo sapiens | N126 | DVGMWNDERCS | 1 | Homo sapiens | N126 | DSGMWNDERCN | 1 | Mus musculus | N126 | DSGMWNDERCD | 1 | Rattus norvegicus | Q106 | EPNNKQRNEDC | 2 | Mus musculus, Rattus norvegicus | Q106 | EPNNRQKDEDC | 1 | Homo sapiens | Q41 | ASAYCQRDYTH | 2 | Mus musculus, Rattus norvegicus | Q41 | ASAYCQQRYTH | 1 | Homo sapiens | R105 | GEPNNKQRNED | 2 | Mus musculus, Rattus norvegicus | R105 | GEPNNRQKDED | 1 | Homo sapiens | R118 | EIYIKREKDVG | 1 | Homo sapiens | R118 | EIYIQRTKDSG | 1 | Mus musculus | R118 | EIYIQRPKDSG | 1 | Rattus norvegicus | Y115 | DCVEIYIKREK | 1 | Homo sapiens | Y115 | DCVEIYIQRTK | 1 | Mus musculus | Y115 | DCVEIYIQRPK | 1 | Rattus norvegicus | Y44 | YCQRDYTHLVA | 2 | Mus musculus, Rattus norvegicus | Y44 | YCQQRYTHLVA | 1 | Homo sapiens | Y69 | SYSPSYYWIGI | 1 | Homo sapiens | Y69 | KHSPSYYWIGI | 1 | Mus musculus | Y69 | RYSPSYYWIGI | 1 | Rattus norvegicus |
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