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mutLBSgeneDB |
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| Gene summary for EPS8L1 |
 Gene summary |
| Basic gene Info. | Gene symbol | EPS8L1 |
| Gene name | EPS8-like 1 | |
| Synonyms | DRC3|EPS8R1 | |
| Cytomap | UCSC genome browser: 19q13.42 | |
| Type of gene | protein-coding | |
| RefGenes | NM_017729.3, NM_133180.2,NM_139204.1, | |
| Description | EPS8-like protein 1EPS8-related protein 1epidermal growth factor receptor kinase substrate 8-like protein 1epidermal growth factor receptor pathway substrate 8-related protein 1 | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 614987 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000131037 | ||
| HPRD : 13276 | ||
| Vega : OTTHUMG00000180513 | ||
| Protein | UniProt: Q8TE68 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_EPS8L1 | |
| BioGPS: 54869 | ||
| Pathway | NCI Pathway Interaction Database: EPS8L1 | |
| KEGG: EPS8L1 | ||
| REACTOME: EPS8L1 | ||
| Pathway Commons: EPS8L1 | ||
| Context | iHOP: EPS8L1 | |
| ligand binding site mutation search in PubMed: EPS8L1 | ||
| UCL Cancer Institute: EPS8L1 | ||
| 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:0007266 | Rho protein signal transduction | 14565974 | GO:0032321 | positive regulation of Rho GTPase activity | 14565974 | GO:0032855 | positive regulation of Rac GTPase activity | 14565974 | GO:0035023 | regulation of Rho protein signal transduction | 14565974 |
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| Ligand binding site mutations for EPS8L1 |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | G525 | G525E | GBM | 1 | N493 | R492H | LUAD | 1 | R512 | R512H | STAD | 1 | G525 | Q523H | STAD | 1 | N493 | R492C | 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 EPS8L1 |
| 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 | R512 | R512H | -1.4526962 | N493 | R492H | -0.99876001 | G525 | G525E | -0.82138116 | N493 | R492C | -0.69145032 | G525 | Q523H | -0.58670772 |
| (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 EPS8L1 from PDB |
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| Differential gene expression and gene-gene network for EPS8L1 |
| 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 EPS8L1 |
| 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 EPS8L1 |
| 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 EPS8L1 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | III | Peptide ligand (PRO,PRO,VAL,PRO,ASN,PRO,ASP,TYR,GLU,PRO,ILE,ARG) | 2rol | A | N493 R512 G525 |
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| Conservation information for LBS of EPS8L1 |
| Multiple alignments for Q8TE68 in multiple species |
| LBS | AA sequence | # species | Species |
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