mutLBSgeneDB |
Gene summary for EEA1 |
Gene summary |
Basic gene Info. | Gene symbol | EEA1 |
Gene name | early endosome antigen 1 | |
Synonyms | MST105|MSTP105|ZFYVE2 | |
Cytomap | UCSC genome browser: 12q22 | |
Type of gene | protein-coding | |
RefGenes | NM_003566.3, | |
Description | early endosome antigen 1, 162kDearly endosome-associated proteinendosome-associated protein p162zinc finger FYVE domain-containing protein 2 | |
Modification date | 20141207 | |
dbXrefs | MIM : 605070 | |
HGNC : HGNC | ||
Ensembl : ENSG00000102189 | ||
HPRD : 05460 | ||
Vega : OTTHUMG00000170110 | ||
Protein | UniProt: Q15075 go to UniProt's Cross Reference DB Table | |
Expression | CleanEX: HS_EEA1 | |
BioGPS: 8411 | ||
Pathway | NCI Pathway Interaction Database: EEA1 | |
KEGG: EEA1 | ||
REACTOME: EEA1 | ||
Pathway Commons: EEA1 | ||
Context | iHOP: EEA1 | |
ligand binding site mutation search in PubMed: EEA1 | ||
UCL Cancer Institute: EEA1 | ||
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 EEA1 |
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. |
Cancer type specific mutLBS sorted by frequency |
LBS | AAchange of nsSNV | Cancer type | # samples | H64 | H64R | BLCA | 1 | D1352 | A1350T | COAD | 1 | D1352 | A1350S | COAD | 1 | R1371 | R1371W | STAD | 1 | R1400 | R1400H | UCEC | 1 | R1400 | R1400C | 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 EEA1 |
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 |
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 | R1400 | R1400H | -1.69595 | R1400 | R1400C | -1.3900051 | R1371 | R1371W | -0.90989008 | D1352 | A1350S | -0.67558298 | D1352 | A1350T | -0.54055871 | H64 | H64R | -0.1666557 |
(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 EEA1 from PDB |
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Differential gene expression and gene-gene network for EEA1 |
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 EEA1 |
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 EEA1 |
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. |
Gene-centered drug-gene interaction network |
Drug information targeting mutLBSgene (Approved drugs only) |
Drug status | DrugBank ID | Name | Type | Drug structure |
Experimental | DB02942 | Inositol 1,3-Bisphosphate | Small molecule |
Gene-centered ligand-gene interaction network |
Ligands binding to mutated ligand binding site of EEA1 go to BioLip |
Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | ITP | MYO-INOSITOL 1,3-BISPHOSPHATE | 1joc | A | D1352 R1371 | ITP | MYO-INOSITOL 1,3-BISPHOSPHATE | 1joc | B | D1352 R1371 | ZN | ZINC(2+) | 3mjh | B | H64 | ZN | ZINC(2+) | 3mjh | D | H64 |
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Conservation information for LBS of EEA1 |
Multiple alignments for Q15075 in multiple species |
LBS | AA sequence | # species | Species |
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