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mutLBSgeneDB |
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| Gene summary for EPHA7 |
 Gene summary |
| Basic gene Info. | Gene symbol | EPHA7 |
| Gene name | EPH receptor A7 | |
| Synonyms | EHK-3|EHK3|EK11|HEK11 | |
| Cytomap | UCSC genome browser: 6q16.1 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001288629.1, NM_001288630.1,NM_004440.3, | |
| Description | EPH homology kinase 3EPH-like kinase 11Eph homology kinase-3ephrin type-A receptor 7receptor protein-tyrosine kinase HEK11tyrosine-protein kinase receptor EHK-3 | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 602190 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000135333 | ||
| HPRD : 03721 | ||
| Vega : OTTHUMG00000015228 | ||
| Protein | UniProt: Q15375 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_EPHA7 | |
| BioGPS: 2045 | ||
| Pathway | NCI Pathway Interaction Database: EPHA7 | |
| KEGG: EPHA7 | ||
| REACTOME: EPHA7 | ||
| Pathway Commons: EPHA7 | ||
| Context | iHOP: EPHA7 | |
| ligand binding site mutation search in PubMed: EPHA7 | ||
| UCL Cancer Institute: EPHA7 | ||
| Assigned class in mutLBSgeneDB | B: This gene belongs to targetable_mutLBSgenes. | |
| Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez |
| GO ID | GO Term | PubMed ID | GO:0048013 | ephrin receptor signaling pathway | 17726105 | GO:0050730 | regulation of peptidyl-tyrosine phosphorylation | 17726105 | GO:0070372 | regulation of ERK1 and ERK2 cascade | 17726105 |
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| Ligand binding site mutations for EPHA7 |
| 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 | V695 | H696N | LUAD | 1 | V647 | G645S | SKCM | 1 | M686 | G687E | SKCM | 1 | V695 | H696N | 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 EPHA7 |
| 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 | M686 | G687E | -0.59696466 | V695 | H696N | -0.54362559 | V647 | G645S | -0.44805634 |
| (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 EPHA7 from PDB |
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| Differential gene expression and gene-gene network for EPHA7 |
| 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 EPHA7 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0149925 | Small Cell Lung Carcinoma | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for EPHA7 |
| 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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| Gene-centered drug-gene interaction network |
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| Drug information targeting mutLBSgene (Approved drugs only) |
| Drug status | DrugBank ID | Name | Type | Drug structure |
| Experimental | DB07970 | 5-[(2-methyl-5-{[3-(trifluoromethyl)phenyl]carbamoyl}phenyl)amino]pyridine-3-carboxamide | Small molecule |  |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of EPHA7 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | IHZ | 5-[(2-METHYL-5-{[3-(TRIFLUOROMETHYL)PHENYL]CARBAMOYL}PHENYL)AMINO]PYRIDINE-3-CARBOXAMIDE | 3dko | A | V647 M686 V695 |
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| Conservation information for LBS of EPHA7 |
| Multiple alignments for Q15375 in multiple species |
| LBS | AA sequence | # species | Species | A663 | RDVAVAIKTLK | 4 | Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus | E682 | RDFLCEASIMG | 4 | Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus | E712 | VMIVIEFMENG | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | E712 | VMIVIEYMENG | 1 | Gallus gallus | F689 | SIMGQFDHPNV | 4 | Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus | I711 | PVMIVIEFMEN | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | I711 | PVMIVIEYMEN | 1 | Gallus gallus | K665 | VAVAIKTLKVG | 4 | Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus | L765 | AARNILVNSNL | 4 | Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus | M686 | CEASIMGQFDH | 4 | Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus | M714 | IVIEFMENGAL | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | M714 | IVIEYMENGAL | 1 | Gallus gallus | V647 | GEFGEVCSGRL | 4 | Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus | V695 | DHPNVVHLEGV | 4 | Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus |
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