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mutLBSgeneDB |
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| Gene summary for FTO |
 Gene summary |
| Basic gene Info. | Gene symbol | FTO |
| Gene name | fat mass and obesity associated | |
| Synonyms | ALKBH9 | |
| Cytomap | UCSC genome browser: 16q12.2 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001080432.2, | |
| Description | AlkB homolog 9alpha-ketoglutarate-dependent dioxygenase FTOfat mass and obesity-associated proteinprotein fto | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 610966 | |
| HGNC : HGNC | ||
| Protein | UniProt: Q9C0B1 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_FTO | |
| BioGPS: 79068 | ||
| Pathway | NCI Pathway Interaction Database: FTO | |
| KEGG: FTO | ||
| REACTOME: FTO | ||
| Pathway Commons: FTO | ||
| Context | iHOP: FTO | |
| ligand binding site mutation search in PubMed: FTO | ||
| UCL Cancer Institute: FTO | ||
| 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:0006307 | DNA dealkylation involved in DNA repair | 18775698 | GO:0035552 | oxidative single-stranded DNA demethylation | 18775698 | GO:0035553 | oxidative single-stranded RNA demethylation | 18775698 | GO:0042245 | RNA repair | 18775698 | GO:0070989 | oxidative demethylation | 18775698 | GO:0080111 | DNA demethylation | 18775698 |
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| Ligand binding site mutations for FTO |
| 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 | R96 | I97S | COAD | 1 | R316 | R316L | LUAD | 1 | H307 | H307Y | LUAD | 1 | Y106 | C104F | LUAD | 1 | S318 | S318I | LUSC | 1 | V244 | S246I | OV | 1 | P93,L91 | T92I | SKCM | 1 | R96 | I97V | STAD | 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 FTO |
| 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 | R96 | I97S | -1.5900548 | R96 | I97V | -1.2553489 | Y106 | C104F | -0.71893566 | L91 | T92I | -0.69213135 | P93 | T92I | -0.69213135 | H307 | H307Y | -0.58579172 | S318 | S318I | -0.34531362 | V244 | S246I | -0.18945322 | R316 | R316L | -0.13560195 |
| (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 FTO from PDB |
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| Differential gene expression and gene-gene network for FTO |
| 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 FTO |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0028754 | Obesity | 307 | Biomarker, GeneticVariation |
| umls:C0011860 | Diabetes Mellitus, Type 2 | 106 | Biomarker, GeneticVariation |
| umls:C0025202 | Melanoma | 2 | Biomarker |
| umls:C0005910 | Body Weight | 2 | Biomarker |
| umls:C2752001 | Growth Retardation, Developmental Delay, Coarse Facies, And Early Death | 1 | Biomarker, GeneticVariation |
| umls:C1458155 | Breast Neoplasms | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for FTO |
| 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 |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of FTO go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | FE2 | IRON(2+) | 3lfm | A | H307 | ZN | ZINC(2+) | 4ie0 | A | H307 | ZN | ZINC(2+) | 4ie4 | A | H307 | ZN | ZINC(2+) | 4ie5 | A | H307 | ZN | ZINC(2+) | 4ie6 | A | H307 | ZN | ZINC(2+) | 4ie7 | A | H307 | ZN | ZINC(2+) | 4qho | A | H307 | MN | MANGANESE(2+) | 4zs2 | A | H307 | MN | MANGANESE(2+) | 4zs3 | A | H307 | FLU | FLUORESCEIN | 4zs2 | A | L91 P93 R96 | A4F | 5-AMINOFLUORESCEIN | 5-AMINO-2-(6-HYDROXY-3-OXO-3H-XANTHEN-9-YL)BENZOIC ACID | 4zs3 | A | L91 P93 R96 | AKG | 2-OXOGLUTARIC ACID | 4zs2 | A | R96 R316 S318 | OGA | N-OXALYLGLYCINE | 4idz | A | R96 V244 H307 R316 S318 | PD2 | LUTIDINIC ACID | 4ie0 | A | R96 V244 H307 R316 S318 | 8XQ | 8-HYDROXYQUINOLINE-5-CARBOXYLIC ACID | 4ie4 | A | R96 V244 H307 R316 S318 | MD6 | N-[(3-HYDROXYPYRIDIN-2-YL)CARBONYL]GLYCINE | 4ie5 | A | R96 V244 H307 R316 S318 | FLC | CITRATE(3-) | 4ie7 | A | R96 V244 H307 R316 S318 | AKG | 2-OXOGLUTARIC ACID | 4zs3 | A | R96 V244 R316 S318 | 3DT | 3-METHYLTHYMIDINE | 3lfm | A | R96 Y106 | RHN | RHEIN | 4ie7 | A | R96 Y106 | UN9 | N-[(1-CHLORO-4-HYDROXYISOQUINOLIN-3-YL)CARBONYL]GLYCINE | 4ie6 | A | R96 Y106 V244 H307 R316 S318 | 640 | 4-(2-{[4-(4-TERT-BUTYLBENZYL)PYRIDIN-3-YL] CARBONYL}HYDRAZINYL)-4-OXOBUTANOIC ACID | 4cxx | A | R96 Y106 V244 H307 R316 S318 | DGR | 4-(2-NICOTINOYLHYDRAZINYL)-4-OXOBUTANOIC ACID | 4cxy | A | R96 Y106 V244 H307 R316 S318 | NKG | N-{[3-HYDROXY-6-(NAPHTHALEN-1-YL)PYRIDIN-2- YL]CARBONYL}GLYCINE | 4qho | A | R96 Y106 V244 H307 R316 S318 | 6MK | SHF-3 | (2E)-4-{2-[(4-BENZYLPYRIDIN-3-YL)CARBONYL] HYDRAZINYL}-4-OXOBUT-2-ENOIC ACID | 4cxw | A | Y106 V244 H307 R316 S318 |
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| Conservation information for LBS of FTO |
| Multiple alignments for Q9C0B1 in multiple species |
| LBS | AA sequence | # species | Species | D233 | VSWHHDENLVD | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | E234 | SWHHDENLVDR | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | H231 | MAVSWHHDENL | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | H232 | AVSWHHDENLV | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | H307 | NATHQHCVLAG | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | I85 | RDLVRIQGKDL | 1 | Homo sapiens | I85 | RDVVRIQGKDV | 1 | Mus musculus | I85 | RDLVRIQGKDV | 1 | Rattus norvegicus | L109 | CTYKYLNTRLF | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | L203 | AYNVTLLNFMD | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | L91 | QGKDVLTPVSR | 2 | Mus musculus, Rattus norvegicus | L91 | QGKDLLTPVSR | 1 | Homo sapiens | N205 | NVTLLNFMDPQ | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | P93 | KDVLTPVSRIL | 2 | Mus musculus, Rattus norvegicus | P93 | KDLLTPVSRIL | 1 | Homo sapiens | R316 | AGSQPRFSSTH | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | R322 | FSSTHRVAECS | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | R96 | LTPVSRILIGD | 2 | Mus musculus, Rattus norvegicus | R96 | LTPVSRILIGN | 1 | Homo sapiens | S229 | GKMAVSWHHDE | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | S318 | SQPRFSSTHRV | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | T320 | PRFSSTHRVAE | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | V228 | MGKMAVSWHHD | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | V244 | RSAVAVYSYSC | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | V309 | THQHCVLAGSQ | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | Y106 | DPGCTYKYLNT | 2 | Mus musculus, Rattus norvegicus | Y106 | NPGCTYKYLNT | 1 | Homo sapiens | Y108 | GCTYKYLNTRL | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | Y295 | HQGDCYFMLDD | 3 | Homo sapiens, Mus musculus, Rattus norvegicus |
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