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mutLBSgeneDB |
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| Gene summary for ETV1 |
 Gene summary |
| Basic gene Info. | Gene symbol | ETV1 |
| Gene name | ets variant 1 | |
| Synonyms | ER81 | |
| Cytomap | UCSC genome browser: 7p21.3 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001163147.1, NM_001163148.1,NM_001163149.1,NM_001163150.1,NM_001163151.1, NM_001163152.1,NM_004956.4,NR_120445.1, | |
| Description | ETS translocation variant 1ets variant gene 1ets-related protein 81 | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 600541 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000006468 | ||
| HPRD : 02765 | ||
| Vega : OTTHUMG00000152403 | ||
| Protein | UniProt: P50549 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_ETV1 | |
| BioGPS: 2115 | ||
| Pathway | NCI Pathway Interaction Database: ETV1 | |
| KEGG: ETV1 | ||
| REACTOME: ETV1 | ||
| Pathway Commons: ETV1 | ||
| Context | iHOP: ETV1 | |
| ligand binding site mutation search in PubMed: ETV1 | ||
| UCL Cancer Institute: ETV1 | ||
| 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:0045944 | positive regulation of transcription from RNA polymerase II promoter | 12750007 |
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| Ligand binding site mutations for ETV1 |
| 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 | A383 | A383V | COAD | 1 | K388,M384 | Y386C | COAD | 1 | Y410 | Y412C | 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 ETV1 |
| 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 | A383 | A383V | -1.0485509 | Y410 | Y412C | -0.90737195 | M384 | Y386C | -0.86977999 | K388 | Y386C | -0.86977999 |
| (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 ETV1 from PDB |
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| Differential gene expression and gene-gene network for ETV1 |
| 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 ETV1 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0033578 | Prostatic Neoplasms | 9 | AlteredExpression, Biomarker, GeneticVariation |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for ETV1 |
| 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 ETV1 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | NUC | Nucleic Acids | 4b06 | A | A383 M384 K388 | NUC | Nucleic Acids | 4bnc | A | A383 M384 K388 | NUC | Nucleic Acids | 4b06 | A | Y410 | NUC | Nucleic Acids | 4bnc | A | Y410 |
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| Conservation information for LBS of ETV1 |
| Multiple alignments for P50549 in multiple species |
| LBS | AA sequence | # species | Species | A383 | QKNRPAMNYDK | 3 | Homo sapiens, Mus musculus, Bos taurus | D2 | 3 | Homo sapiens, Mus musculus, Bos taurus | K379 | RWGIQKNRPAM | 3 | Homo sapiens, Mus musculus, Bos taurus | K388 | AMNYDKLSRSL | 3 | Homo sapiens, Mus musculus, Bos taurus | K404 | KGIMQKVAGER | 3 | Homo sapiens, Mus musculus, Bos taurus | L337 | RGSLQLWQFLV | 3 | Homo sapiens, Mus musculus, Bos taurus | M384 | KNRPAMNYDKL | 3 | Homo sapiens, Mus musculus, Bos taurus | Q336 | RRGSLQLWQFL | 3 | Homo sapiens, Mus musculus, Bos taurus | R381 | GIQKNRPAMNY | 3 | Homo sapiens, Mus musculus, Bos taurus | R391 | YDKLSRSLRYY | 3 | Homo sapiens, Mus musculus, Bos taurus | R394 | LSRSLRYYYEK | 3 | Homo sapiens, Mus musculus, Bos taurus | R409 | KVAGERYVYKF | 3 | Homo sapiens, Mus musculus, Bos taurus | S392 | DKLSRSLRYYY | 3 | Homo sapiens, Mus musculus, Bos taurus | W375 | EVARRWGIQKN | 3 | Homo sapiens, Mus musculus, Bos taurus | Y395 | SRSLRYYYEKG | 3 | Homo sapiens, Mus musculus, Bos taurus | Y396 | RSLRYYYEKGI | 3 | Homo sapiens, Mus musculus, Bos taurus | Y397 | SLRYYYEKGIM | 3 | Homo sapiens, Mus musculus, Bos taurus | Y410 | VAGERYVYKFV | 3 | Homo sapiens, Mus musculus, Bos taurus |
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