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mutLBSgeneDB |
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| Gene summary for EME1 |
 Gene summary |
| Basic gene Info. | Gene symbol | EME1 |
| Gene name | essential meiotic structure-specific endonuclease 1 | |
| Synonyms | MMS4L|SLX2A | |
| Cytomap | UCSC genome browser: 17q21.33 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001166131.1, NM_152463.2, | |
| Description | MMS4 homologSLX2 structure-specific endonuclease subunit homolog Acrossover junction endonuclease EME1essential meiotic endonuclease 1 homolog 1essential meiotic endonuclease 1 homolog 2hMMS4homolog of yeast EME1 endonuclease | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 610885 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000154920 | ||
| Vega : OTTHUMG00000164974 | ||
| Protein | UniProt: Q96AY2 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_EME1 | |
| BioGPS: 146956 | ||
| Pathway | NCI Pathway Interaction Database: EME1 | |
| KEGG: EME1 | ||
| REACTOME: EME1 | ||
| Pathway Commons: EME1 | ||
| Context | iHOP: EME1 | |
| ligand binding site mutation search in PubMed: EME1 | ||
| UCL Cancer Institute: EME1 | ||
| 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 EME1 |
| 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 | D453 | E454D | SKCM | 1 | R544 | R544H | THCA | 1 | E548 | E548D | UCEC | 1 | K441 | A442V | 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 EME1 |
| 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 | R544 | R544H | -1.5430473 | D453 | E454D | -1.3910607 | K441 | A442V | -0.43852515 | E548 | E548D | -0.42649871 |
| (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 EME1 from PDB |
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| Differential gene expression and gene-gene network for EME1 |
| 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 EME1 |
| 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 EME1 |
| 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 EME1 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | NUC | Nucleic Acids | 4p0s | B | E548 | NUC | Nucleic Acids | 4p0s | D | E548 | NUC | Nucleic Acids | 4p0s | F | E548 | NUC | Nucleic Acids | 4p0s | H | E548 | NUC | Nucleic Acids | 4p0r | B | K441 | NUC | Nucleic Acids | 4p0r | D | K441 | NUC | Nucleic Acids | 4p0s | F | K441 | NUC | Nucleic Acids | 4p0s | H | K441 | NUC | Nucleic Acids | 4p0q | B | K441 D453 | NUC | Nucleic Acids | 4p0r | B | R544 E548 |
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| Conservation information for LBS of EME1 |
| Multiple alignments for Q96AY2 in multiple species |
| LBS | AA sequence | # species | Species |
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