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mutLBSgeneDB |
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| Gene summary for FLI1 |
 Gene summary |
| Basic gene Info. | Gene symbol | FLI1 |
| Gene name | Fli-1 proto-oncogene, ETS transcription factor | |
| Synonyms | EWSR2|SIC-1 | |
| Cytomap | UCSC genome browser: 11q24.1-q24.3 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001167681.2, NM_001271010.1,NM_001271012.1,NM_002017.4, | |
| Description | Ewing sarcoma breakpoint region 2Friend leukemia integration 1 transcription factorFriend leukemia virus integration 1transcription factor ERGB | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 193067 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000151702 | ||
| HPRD : 01901 | ||
| Vega : OTTHUMG00000165792 | ||
| Protein | UniProt: Q01543 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_FLI1 | |
| BioGPS: 2313 | ||
| Pathway | NCI Pathway Interaction Database: FLI1 | |
| KEGG: FLI1 | ||
| REACTOME: FLI1 | ||
| Pathway Commons: FLI1 | ||
| Context | iHOP: FLI1 | |
| ligand binding site mutation search in PubMed: FLI1 | ||
| UCL Cancer Institute: FLI1 | ||
| 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 |
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| Ligand binding site mutations for FLI1 |
| 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 | W321 | R320C | COAD | 1 | R355 | R355I | COAD | 1 | R355 | G353S | COAD | 1 | L283 | L283P | COAD | 1 | R337 | S336I | GBM | 1 | Y343,K345 | D344Y | LUAD | 1 | H363 | G364D | LUAD | 1 | K350 | T349I | LUSC | 1 | K325,W321 | E323K | SKCM | 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 FLI1 |
| 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 | L283 | L283P | -1.7769911 | W321 | E323K | -1.089825 | K325 | E323K | -1.089825 | W321 | R320C | -1.0453532 | Y343 | D344Y | -0.97246051 | K345 | D344Y | -0.97246051 | K350 | T349I | -0.83275733 | R355 | R355I | -0.65349088 | R355 | G353S | -0.6061908 | H363 | G364D | -0.17308439 | R337 | S336I | -0.082760941 |
| (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 FLI1 from PDB |
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| Differential gene expression and gene-gene network for FLI1 |
| 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 FLI1 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0553580 | Sarcoma, Ewing | 102 | Biomarker, GeneticVariation |
| umls:C0025149 | Medulloblastoma | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for FLI1 |
| 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 FLI1 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | CO | COBALT(2+) | 5e8g | A | H363 | CO | COBALT(2+) | 5e8g | B | H363 | CO | COBALT(2+) | 5e8g | C | H363 | CO | COBALT(2+) | 5e8g | D | H363 | NUC | Nucleic Acids | 5e8i | D | L283 W321 K325 R337 | NUC | Nucleic Acids | 5e8i | A | L283 W321 K325 R337 K345 | NUC | Nucleic Acids | 5e8i | G | L283 W321 K325 R337 K345 | NUC | Nucleic Acids | 5e8i | J | L283 W321 K325 R337 K345 | NUC | Nucleic Acids | 5e8i | A | R337 Y343 K350 R355 | NUC | Nucleic Acids | 5e8i | D | R337 Y343 K350 R355 | NUC | Nucleic Acids | 5e8i | G | R337 Y343 K350 R355 | NUC | Nucleic Acids | 5e8i | J | R337 Y343 K350 R355 |
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| Conservation information for LBS of FLI1 |
| Multiple alignments for Q01543 in multiple species |
| LBS | AA sequence | # species | Species | A338 | DKLSRALRYYY | 3 | Homo sapiens, Bos taurus, Mus musculus | D361 | YAYKFDFHGIA | 3 | Homo sapiens, Bos taurus, Mus musculus | H363 | YKFDFHGIAQA | 3 | Homo sapiens, Bos taurus, Mus musculus | K325 | RWGERKSKPNM | 3 | Homo sapiens, Bos taurus, Mus musculus | K327 | GERKSKPNMNY | 3 | Homo sapiens, Bos taurus, Mus musculus | K334 | NMNYDKLSRAL | 3 | Homo sapiens, Bos taurus, Mus musculus | K345 | RYYYDKNIMTK | 3 | Homo sapiens, Bos taurus, Mus musculus | K350 | KNIMTKVHGKR | 3 | Homo sapiens, Bos taurus, Mus musculus | L283 | SGQIQLWQFLL | 3 | Homo sapiens, Bos taurus, Mus musculus | M330 | KSKPNMNYDKL | 3 | Homo sapiens, Bos taurus, Mus musculus | N329 | RKSKPNMNYDK | 3 | Homo sapiens, Bos taurus, Mus musculus | Q282 | GSGQIQLWQFL | 3 | Homo sapiens, Bos taurus, Mus musculus | R337 | YDKLSRALRYY | 3 | Homo sapiens, Bos taurus, Mus musculus | R340 | LSRALRYYYDK | 3 | Homo sapiens, Bos taurus, Mus musculus | R355 | KVHGKRYAYKF | 3 | Homo sapiens, Bos taurus, Mus musculus | W321 | EVARRWGERKS | 3 | Homo sapiens, Bos taurus, Mus musculus | Y332 | KPNMNYDKLSR | 3 | Homo sapiens, Bos taurus, Mus musculus | Y341 | SRALRYYYDKN | 3 | Homo sapiens, Bos taurus, Mus musculus | Y342 | RALRYYYDKNI | 3 | Homo sapiens, Bos taurus, Mus musculus | Y343 | ALRYYYDKNIM | 3 | Homo sapiens, Bos taurus, Mus musculus | Y356 | VHGKRYAYKFD | 3 | Homo sapiens, Bos taurus, Mus musculus |
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