mutLBSgeneDB |
Gene summary for EDIL3 |
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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. |
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GO ID | GO Term | PubMed ID |
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Ligand binding site mutations for EDIL3 |
![]() We represented ligand binding site mutations only. (You can see big image via clicking.) ![]() |
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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 |
![]() Mupro score denotes assessment of the effect of mutations on thermodynamic stability. (ΔΔE<0: mutation decreases stability, ΔΔE>0: mutation increases stability) |
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![]() 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) |
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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 |
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Phenotype information for EDIL3 |
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Disease ID | Disease name | # PubMed | Association type |
umls:C0029408 | Osteoarthritis | 2 | Biomarker |
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Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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Pharmacological information for EDIL3 |
![]() 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 status | DrugBank ID | Name | Type | Drug structure |
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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 |
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LBS | AA sequence | # species | Species |
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