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mutLBSgeneDB |
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| Gene summary for EED |
 Gene summary |
| Basic gene Info. | Gene symbol | EED |
| Gene name | embryonic ectoderm development | |
| Synonyms | HEED|WAIT1 | |
| Cytomap | UCSC genome browser: 11q14.2-q22.3 | |
| Type of gene | protein-coding | |
| RefGenes | NM_003797.3, NM_152991.2, | |
| Description | WD protein associating with integrin cytoplasmic tails 1polycomb protein EED | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 605984 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000074266 | ||
| HPRD : 09343 | ||
| Vega : OTTHUMG00000167209 | ||
| Protein | UniProt: O75530 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_EED | |
| BioGPS: 8726 | ||
| Pathway | NCI Pathway Interaction Database: EED | |
| KEGG: EED | ||
| REACTOME: EED | ||
| Pathway Commons: EED | ||
| Context | iHOP: EED | |
| ligand binding site mutation search in PubMed: EED | ||
| UCL Cancer Institute: EED | ||
| 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 EED |
| 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 | N194 | L196Q | LAML | 1 | C324 | K322E | LUAD | 1 | A411 | A411P | LUAD | 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 EED |
| 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 | N194 | L196Q | -1.9716546 | A411 | A411P | -0.50800647 | C324 | K322E | -0.4842908 |
| (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 EED from PDB |
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| Differential gene expression and gene-gene network for EED |
| 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 EED |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0206727 | Nerve Sheath Neoplasms | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for EED |
| 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 EED go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | III | Peptide ligand (ALA,ARG,LYS,SER,ALA) | 3iiw | A | C324 | III | Peptide ligand (ALA,ARG,LYS,SER,THR) | 3ij0 | A | C324 | III | Peptide ligand (HIS,ARG,LYS,VAL,LEU,ARG) | 3jpx | A | C324 | III | Peptide ligand (ASP,PHE,LYS,THR,ASP) | 3jzh | A | C324 | III | Peptide ligand (THR,ALA,ARG,LYS,SER,THR,GLY) | 3k27 | A | C324 | III | Peptide ligand (ALA,GLN,ARG,M3L,PHE,ALA,GLN,SER) | 4x3e | A | C324 A411 | NDS | DIMETHYLETHYLAMMONIUM PROPANE SULFONATE | 3ijc | A | N194 | III | Peptide ligand (LYS,GLN) | 3k26 | A | N194 |
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| Conservation information for LBS of EED |
| Multiple alignments for O75530 in multiple species |
| LBS | AA sequence | # species | Species | A411 | HHKCGAAIRQT | 3 | Homo sapiens, Mus musculus, Bos taurus | A411 | HNQSKSVIRQT | 1 | Arabidopsis thaliana | A411 | NSRSVATVRQI | 1 | Drosophila melanogaster | A411 | LPRCTSAIRQT | 1 | Danio rerio | A411 | YPKCASAIRQT | 1 | Xenopus tropicalis | A411 | HPKCVAAIRQT | 1 | Gallus gallus | C324 | ILSKSCENAIV | 6 | Homo sapiens, Danio rerio, Xenopus tropicalis, Gallus gallus, Mus musculus, Bos taurus | C324 | ILSKSVDNEIL | 1 | Arabidopsis thaliana | C324 | VLSKSCENAIV | 1 | Drosophila melanogaster | D362 | DYSQCDIWYMR | 6 | Homo sapiens, Danio rerio, Xenopus tropicalis, Gallus gallus, Mus musculus, Bos taurus | D362 | PVPMCDIWFIK | 1 | Arabidopsis thaliana | D362 | EYDECEIWFVR | 1 | Drosophila melanogaster | D430 | LIAVCDDASIW | 5 | Homo sapiens, Danio rerio, Gallus gallus, Mus musculus, Bos taurus | D430 | ILACCEDGTIW | 1 | Arabidopsis thaliana | D430 | LVYVCDDATVW | 1 | Drosophila melanogaster | D430 | LVAVCDDATIW | 1 | Xenopus tropicalis | F97 | HNQPLFGVQFN | 4 | Homo sapiens, Xenopus tropicalis, Mus musculus, Bos taurus | F97 | HGQPLFGVQFN | 2 | Danio rerio, Gallus gallus | F97 | K-KPLYAVVFN | 1 | Arabidopsis thaliana | F97 | HGANIFGVAFN | 1 | Drosophila melanogaster | I363 | YSQCDIWYMRF | 6 | Homo sapiens, Danio rerio, Xenopus tropicalis, Gallus gallus, Mus musculus, Bos taurus | I363 | VPMCDIWFIKF | 1 | Arabidopsis thaliana | I363 | YDECEIWFVRF | 1 | Drosophila melanogaster | N194 | HGNAINELKFH | 6 | Homo sapiens, Danio rerio, Xenopus tropicalis, Gallus gallus, Mus musculus, Bos taurus | N194 | HGDSVNEIRTQ | 1 | Arabidopsis thaliana | N194 | HGQAINELKFH | 1 | Drosophila melanogaster | N307 | RDIHRNYVDCV | 7 | Homo sapiens, Drosophila melanogaster, Danio rerio, Xenopus tropicalis, Gallus gallus, Mus musculus, Bos taurus | N307 | ASIHTNYVDCN | 1 | Arabidopsis thaliana | P95 | EDHNQPLFGVQ | 4 | Homo sapiens, Xenopus tropicalis, Mus musculus, Bos taurus | P95 | EDHGQPLFGVQ | 2 | Danio rerio, Gallus gallus | P95 | EGK-KPLYAVV | 1 | Arabidopsis thaliana | P95 | ENHGANIFGVA | 1 | Drosophila melanogaster | Q382 | LALGNQVGKLY | 6 | Homo sapiens, Danio rerio, Xenopus tropicalis, Gallus gallus, Mus musculus, Bos taurus | Q382 | VAIGNQEGKVY | 1 | Arabidopsis thaliana | Q382 | IALGNQQGKVY | 1 | Drosophila melanogaster | R414 | CGAAIRQTSFS | 3 | Homo sapiens, Mus musculus, Bos taurus | R414 | SKSVIRQTAMS | 1 | Arabidopsis thaliana | R414 | SVATVRQIAFS | 1 | Drosophila melanogaster | R414 | CTSAIRQTSFS | 1 | Danio rerio | R414 | CASAIRQTSFS | 1 | Xenopus tropicalis | R414 | CVAAIRQTSFS | 1 | Gallus gallus | W364 | SQCDIWYMRFS | 6 | Homo sapiens, Danio rerio, Xenopus tropicalis, Gallus gallus, Mus musculus, Bos taurus | W364 | PMCDIWFIKFS | 1 | Arabidopsis thaliana | W364 | DECEIWFVRFG | 1 | Drosophila melanogaster | Y148 | ADENFYTCAWT | 6 | Homo sapiens, Danio rerio, Xenopus tropicalis, Gallus gallus, Mus musculus, Bos taurus | Y148 | KEESFYTVSWA | 1 | Arabidopsis thaliana | Y148 | PDEVFYTCAWS | 1 | Drosophila melanogaster | Y308 | DIHRNYVDCVR | 6 | Homo sapiens, Danio rerio, Xenopus tropicalis, Gallus gallus, Mus musculus, Bos taurus | Y308 | SIHTNYVDCNR | 1 | Arabidopsis thaliana | Y308 | DIHRNYVDCVQ | 1 | Drosophila melanogaster | Y365 | QCDIWYMRFSM | 6 | Homo sapiens, Danio rerio, Xenopus tropicalis, Gallus gallus, Mus musculus, Bos taurus | Y365 | MCDIWFIKFSC | 1 | Arabidopsis thaliana | Y365 | ECEIWFVRFGF | 1 | Drosophila melanogaster |
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