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mutLBSgeneDB |
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| Gene summary for EDIL3 |
 Gene summary |
| Basic gene Info. | Gene symbol | EDIL3 |
| Gene name | EGF-like repeats and discoidin I-like domains 3 | |
| Synonyms | DEL1 | |
| Cytomap | UCSC genome browser: 5q14 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001278642.1, NM_005711.4, | |
| Description | EGF-like repeat and discoidin I-like domain-containing protein 3developmental endothelial locus-1developmentally-regulated endothelial cell locus 1 proteinintegrin-binding protein DEL1 | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 606018 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000164176 | ||
| HPRD : 09350 | ||
| Vega : OTTHUMG00000119047 | ||
| Protein | UniProt: O43854 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_EDIL3 | |
| BioGPS: 10085 | ||
| Pathway | NCI Pathway Interaction Database: EDIL3 | |
| KEGG: EDIL3 | ||
| REACTOME: EDIL3 | ||
| Pathway Commons: EDIL3 | ||
| Context | iHOP: EDIL3 | |
| ligand binding site mutation search in PubMed: EDIL3 | ||
| UCL Cancer Institute: EDIL3 | ||
| 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 EDIL3 |
| 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 | E122 | E124K | SKCM | 2 | E122 | E124D | COAD | 1 | E122 | E124A | LUAD | 1 | N119 | H118N | LUAD | 1 | D136 | T135K | 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 EDIL3 |
| 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 | E122 | E124A | -1.1585998 | E122 | E124D | -1.1160274 | E122 | E124K | -0.88041022 | N119 | H118N | -0.87225974 | D136 | T135K | -0.81298505 |
| (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 EDIL3 from PDB |
| PDB ID | PDB title | PDB structure | 4D90 | Crystal Structure of Del-1 EGF domains |  |
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| Differential gene expression and gene-gene network for EDIL3 |
| 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 EDIL3 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0029408 | Osteoarthritis | 2 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for EDIL3 |
| 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 EDIL3 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | CA | CALCIUM(2+) | 4d90 | A | N119 E122 D136 | CA | CALCIUM(2+) | 4d90 | B | N119 E122 D136 |
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| Conservation information for LBS of EDIL3 |
| Multiple alignments for O43854 in multiple species |
| LBS | AA sequence | # species | Species |
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