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mutLBSgeneDB |
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| Gene summary for HLA-E |
 Gene summary |
| Basic gene Info. | Gene symbol | HLA-E |
| Gene name | major histocompatibility complex, class I, E | |
| Synonyms | EA1.2|EA2.1|HLA-6.2|MHC|QA1 | |
| Cytomap | UCSC genome browser: 6p21.3 | |
| Type of gene | protein-coding | |
| RefGenes | NM_005516.5, | |
| Description | HLA class I histocompatibility antigen, E alpha chainHLA class I histocompatibility antigen, alpha chain EMHC HLA-E alpha-1MHC HLA-E alpha-2.1MHC class I antigen Elymphocyte antigen | |
| Modification date | 20141222 | |
| dbXrefs | MIM : 143010 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000204592 | ||
| HPRD : 00877 | ||
| Vega : OTTHUMG00000031155 | ||
| Protein | UniProt: P13747 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_HLA-E | |
| BioGPS: 3133 | ||
| Pathway | NCI Pathway Interaction Database: HLA-E | |
| KEGG: HLA-E | ||
| REACTOME: HLA-E | ||
| Pathway Commons: HLA-E | ||
| Context | iHOP: HLA-E | |
| ligand binding site mutation search in PubMed: HLA-E | ||
| UCL Cancer Institute: HLA-E | ||
| 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:0002476 | antigen processing and presentation of endogenous peptide antigen via MHC class Ib | 9754572 | GO:0002717 | positive regulation of natural killer cell mediated immunity | 9754572 | GO:0042270 | protection from natural killer cell mediated cytotoxicity | 9754572 |
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| Ligand binding site mutations for HLA-E |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | T184 | D183N | BLCA | 1 | Y80 | W81C | OV | 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 HLA-E |
| 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 | T184 | D183N | -1.3309917 | Y80 | W81C | -0.80177869 |
| (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 HLA-E from PDB |
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| Differential gene expression and gene-gene network for HLA-E |
| 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 HLA-E |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0030491 | Parapsoriasis | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for HLA-E |
| 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 HLA-E 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 HLA-E |
| Multiple alignments for P13747 in multiple species |
| LBS | AA sequence | # species | Species | A88 | RETRSARDTAQ | 2 | Homo sapiens, Pan troglodytes | A88 | RETWKARDMGR | 1 | Mus musculus | D170 | EQKSNDASEAE | 1 | Homo sapiens | D170 | KHKSEAVDEAH | 1 | Mus musculus | D170 | ERKSNDACEAE | 1 | Pan troglodytes | D90 | TRSARDTAQIF | 2 | Homo sapiens, Pan troglodytes | D90 | TWKARDMGRNF | 1 | Mus musculus | E173 | SNDASEAEHQR | 1 | Homo sapiens | E173 | SEAVDEAHQQR | 1 | Mus musculus | E173 | SNDACEAEHQR | 1 | Pan troglodytes | E84 | EYWDRETRSAR | 2 | Homo sapiens, Pan troglodytes | E84 | EYWERETWKAR | 1 | Mus musculus | F137 | RGYEQFAYDGK | 2 | Homo sapiens, Pan troglodytes | F137 | RGYCQEAYDGQ | 1 | Mus musculus | F95 | DTAQIFRVNLR | 2 | Homo sapiens, Pan troglodytes | F95 | DMGRNFRVNLR | 1 | Mus musculus | H120 | TLQWMHGCELG | 1 | Homo sapiens | H120 | TLQWMYGCDVG | 1 | Mus musculus | H120 | TLQWMHGCDLG | 1 | Pan troglodytes | H176 | ASEAEHQRAYL | 1 | Homo sapiens | H176 | VDEAHQQRAYL | 1 | Mus musculus | H176 | ACEAEHQRAYL | 1 | Pan troglodytes | H30 | SLKYFHTSVSR | 2 | Homo sapiens, Pan troglodytes | H30 | SLRYFTTAVSR | 1 | Mus musculus | I94 | RDTAQIFRVNL | 2 | Homo sapiens, Pan troglodytes | I94 | RDMGRNFRVNL | 1 | Mus musculus | K167 | QISEQKSNDAS | 1 | Homo sapiens | K167 | QISKHKSEAVD | 1 | Mus musculus | K167 | QISERKSNDAC | 1 | Pan troglodytes | L102 | VNLRTLRGYYN | 2 | Homo sapiens, Pan troglodytes | L102 | VNLRTLLGYYN | 1 | Mus musculus | L116 | AGSHTLQWMHG | 2 | Homo sapiens, Pan troglodytes | L116 | DESHTLQWMYG | 1 | Mus musculus | L145 | DGKDYLTLNED | 2 | Homo sapiens, Pan troglodytes | L145 | DGQDYISLNED | 1 | Mus musculus | M66 | AASPRMVPRAP | 2 | Homo sapiens, Pan troglodytes | M66 | AENPRMEPRAR | 1 | Mus musculus | N98 | QIFRVNLRTLR | 2 | Homo sapiens, Pan troglodytes | N98 | RNFRVNLRTLL | 1 | Mus musculus | Q177 | SEAEHQRAYLE | 1 | Homo sapiens | Q177 | DEAHQQRAYLQ | 1 | Mus musculus | Q177 | CEAEHQRAYLE | 1 | Pan troglodytes | R83 | SEYWDRETRSA | 2 | Homo sapiens, Pan troglodytes | R83 | PEYWERETWKA | 1 | Mus musculus | S164 | TAAQISEQKSN | 1 | Homo sapiens | S164 | IASQISKHKSE | 1 | Mus musculus | S164 | TAAQISERKSN | 1 | Pan troglodytes | S168 | ISEQKSNDASE | 1 | Homo sapiens | S168 | ISKHKSEAVDE | 1 | Mus musculus | S168 | ISERKSNDACE | 1 | Pan troglodytes | S87 | DRETRSARDTA | 2 | Homo sapiens, Pan troglodytes | S87 | ERETWKARDMG | 1 | Mus musculus | T101 | RVNLRTLRGYY | 2 | Homo sapiens, Pan troglodytes | T101 | RVNLRTLLGYY | 1 | Mus musculus | T184 | AYLEDTCVEWL | 2 | Homo sapiens, Pan troglodytes | T184 | AYLQGPCVEWL | 1 | Mus musculus | T91 | RSARDTAQIFR | 2 | Homo sapiens, Pan troglodytes | T91 | WKARDMGRNFR | 1 | Mus musculus | V97 | AQIFRVNLRTL | 2 | Homo sapiens, Pan troglodytes | V97 | GRNFRVNLRTL | 1 | Mus musculus | W118 | SHTLQWMHGCE | 1 | Homo sapiens | W118 | SHTLQWMYGCD | 1 | Mus musculus | W118 | SHTLQWMHGCD | 1 | Pan troglodytes | W154 | EDLRSWTAVDT | 2 | Homo sapiens, Pan troglodytes | W154 | EDLRSWTANDI | 1 | Mus musculus | W188 | DTCVEWLHKYL | 2 | Homo sapiens, Pan troglodytes | W188 | GPCVEWLHRYL | 1 | Mus musculus | Y105 | RTLRGYYNQSE | 2 | Homo sapiens, Pan troglodytes | Y105 | RTLLGYYNQSN | 1 | Mus musculus | Y144 | YDGKDYLTLNE | 2 | Homo sapiens, Pan troglodytes | Y144 | YDGQDYISLNE | 1 | Mus musculus | Y180 | EHQRAYLEDTC | 2 | Homo sapiens, Pan troglodytes | Y180 | HQQRAYLQGPC | 1 | Mus musculus | Y192 | EWLHKYLEKGK | 2 | Homo sapiens, Pan troglodytes | Y192 | EWLHRYLRLGN | 1 | Mus musculus | Y28 | SHSLKYFHTSV | 2 | Homo sapiens, Pan troglodytes | Y28 | PHSLRYFTTAV | 1 | Mus musculus | Y80 | QEGSEYWDRET | 2 | Homo sapiens, Pan troglodytes | Y80 | QEGPEYWERET | 1 | Mus musculus |
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