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Fusion gene ID: 30544 |
FusionGeneSummary for RASGEF1B_MTOR |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: RASGEF1B_MTOR | Fusion gene ID: 30544 | Hgene | Tgene | Gene symbol | RASGEF1B | MTOR | Gene ID | 153020 | 2475 |
| Gene name | RasGEF domain family member 1B | mechanistic target of rapamycin kinase | |
| Synonyms | GPIG4 | FRAP|FRAP1|FRAP2|RAFT1|RAPT1|SKS | |
| Cytomap | 4q21.21 | 1p36.22 | |
| Type of gene | protein-coding | protein-coding | |
| Description | ras-GEF domain-containing family member 1BGPI gamma-4 | serine/threonine-protein kinase mTORFK506 binding protein 12-rapamycin associated protein 2FK506-binding protein 12-rapamycin complex-associated protein 1FKBP-rapamycin associated proteinFKBP12-rapamycin complex-associated protein 1mammalian target o | |
| Modification date | 20180519 | 20180527 | |
| UniProtAcc | Q0VAM2 | P42345 | |
| Ensembl transtripts involved in fusion gene | ENST00000509081, ENST00000264400, ENST00000335927, ENST00000436139, ENST00000514889, | ENST00000361445, ENST00000376838, ENST00000495435, | |
| Fusion gene scores | * DoF score | 2 X 2 X 1=4 | 11 X 12 X 7=924 |
| # samples | 4 | 16 | |
| ** MAII score | log2(4/4*10)=3.32192809488736 | log2(16/924*10)=-2.5298209465287 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: RASGEF1B [Title/Abstract] AND MTOR [Title/Abstract] AND fusion [Title/Abstract] | ||
| Functional or gene categories assigned by FusionGDB annotation | |||
| * DoF score (Degree of Frequency) = # partners X # break points X # cancer types ** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10) |
| Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Partner | Gene | GO ID | GO term | PubMed ID |
| Tgene | MTOR | GO:0001558 | regulation of cell growth | 18762023 |
| Tgene | MTOR | GO:0001934 | positive regulation of protein phosphorylation | 20233713 |
| Tgene | MTOR | GO:0006468 | protein phosphorylation | 12150926|15467718|18925875 |
| Tgene | MTOR | GO:0009267 | cellular response to starvation | 28223137 |
| Tgene | MTOR | GO:0016242 | negative regulation of macroautophagy | 25327288 |
| Tgene | MTOR | GO:0016310 | phosphorylation | 11853878|25327288 |
| Tgene | MTOR | GO:0034198 | cellular response to amino acid starvation | 22424946 |
| Tgene | MTOR | GO:0038202 | TORC1 signaling | 28223137 |
| Tgene | MTOR | GO:0043200 | response to amino acid | 18497260 |
| Tgene | MTOR | GO:0045727 | positive regulation of translation | 18762023 |
| Tgene | MTOR | GO:0046777 | protein autophosphorylation | 15467718 |
| Tgene | MTOR | GO:0071230 | cellular response to amino acid stimulus | 22424946 |
| Tgene | MTOR | GO:0071233 | cellular response to leucine | 22424946 |
| Tgene | MTOR | GO:1990253 | cellular response to leucine starvation | 22424946 |
| Fusion gene information from three resources (ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018)) * All genome coordinats were lifted-over on hg19. * Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser. |
| Data type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| ChiTaRS3.1 | BF845885 | RASGEF1B | chr4 | 82365981 | - | MTOR | chr1 | 11317919 | - | ||
| ChiTaRS3.1 | BF845891 | RASGEF1B | chr4 | 82365981 | - | MTOR | chr1 | 11317919 | - | ||
| ChiTaRS3.1 | BF845998 | RASGEF1B | chr4 | 82365981 | - | MTOR | chr1 | 11317919 | - |
| * LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
| Open reading frame (ORF) analsis of fusion genes based on Ensembl gene isoform structure. * Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser. |
| ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| intron-intron | ENST00000509081 | ENST00000361445 | RASGEF1B | chr4 | 82365981 | - | MTOR | chr1 | 11317919 | - |
| intron-intron | ENST00000509081 | ENST00000376838 | RASGEF1B | chr4 | 82365981 | - | MTOR | chr1 | 11317919 | - |
| intron-intron | ENST00000509081 | ENST00000495435 | RASGEF1B | chr4 | 82365981 | - | MTOR | chr1 | 11317919 | - |
| intron-intron | ENST00000264400 | ENST00000361445 | RASGEF1B | chr4 | 82365981 | - | MTOR | chr1 | 11317919 | - |
| intron-intron | ENST00000264400 | ENST00000376838 | RASGEF1B | chr4 | 82365981 | - | MTOR | chr1 | 11317919 | - |
| intron-intron | ENST00000264400 | ENST00000495435 | RASGEF1B | chr4 | 82365981 | - | MTOR | chr1 | 11317919 | - |
| intron-intron | ENST00000335927 | ENST00000361445 | RASGEF1B | chr4 | 82365981 | - | MTOR | chr1 | 11317919 | - |
| intron-intron | ENST00000335927 | ENST00000376838 | RASGEF1B | chr4 | 82365981 | - | MTOR | chr1 | 11317919 | - |
| intron-intron | ENST00000335927 | ENST00000495435 | RASGEF1B | chr4 | 82365981 | - | MTOR | chr1 | 11317919 | - |
| intron-intron | ENST00000436139 | ENST00000361445 | RASGEF1B | chr4 | 82365981 | - | MTOR | chr1 | 11317919 | - |
| intron-intron | ENST00000436139 | ENST00000376838 | RASGEF1B | chr4 | 82365981 | - | MTOR | chr1 | 11317919 | - |
| intron-intron | ENST00000436139 | ENST00000495435 | RASGEF1B | chr4 | 82365981 | - | MTOR | chr1 | 11317919 | - |
| intron-intron | ENST00000514889 | ENST00000361445 | RASGEF1B | chr4 | 82365981 | - | MTOR | chr1 | 11317919 | - |
| intron-intron | ENST00000514889 | ENST00000376838 | RASGEF1B | chr4 | 82365981 | - | MTOR | chr1 | 11317919 | - |
| intron-intron | ENST00000514889 | ENST00000495435 | RASGEF1B | chr4 | 82365981 | - | MTOR | chr1 | 11317919 | - |
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FusionProtFeatures for RASGEF1B_MTOR |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| RASGEF1B | MTOR |
| Guanine nucleotide exchange factor (GEF) withspecificity for RAP2A, it doesn't seems to activate other Rasfamily proteins (in vitro). {ECO:0000269|PubMed:19645719,ECO:0000269|PubMed:23894443}. | Serine/threonine protein kinase which is a centralregulator of cellular metabolism, growth and survival in responseto hormones, growth factors, nutrients, energy and stress signals.MTOR directly or indirectly regulates the phosphorylation of atleast 800 proteins. Functions as part of 2 structurally andfunctionally distinct signaling complexes mTORC1 and mTORC2 (mTORcomplex 1 and 2). Activated mTORC1 up-regulates protein synthesisby phosphorylating key regulators of mRNA translation and ribosomesynthesis. This includes phosphorylation of EIF4EBP1 and releaseof its inhibition toward the elongation initiation factor 4E(eiF4E). Moreover, phosphorylates and activates RPS6KB1 andRPS6KB2 that promote protein synthesis by modulating the activityof their downstream targets including ribosomal protein S6,eukaryotic translation initiation factor EIF4B, and the inhibitorof translation initiation PDCD4. Stimulates the pyrimidinebiosynthesis pathway, both by acute regulation through RPS6KB1-mediated phosphorylation of the biosynthetic enzyme CAD, anddelayed regulation, through transcriptional enhancement of thepentose phosphate pathway which produces 5-phosphoribosyl-1-pyrophosphate (PRPP), an allosteric activator of CAD at a laterstep in synthesis, this function is dependent on the mTORC1complex. Regulates ribosome synthesis by activating RNA polymeraseIII-dependent transcription through phosphorylation and inhibitionof MAF1 an RNA polymerase III-repressor. In parallel to proteinsynthesis, also regulates lipid synthesis through SREBF1/SREBP1and LPIN1. To maintain energy homeostasis mTORC1 may also regulatemitochondrial biogenesis through regulation of PPARGC1A. mTORC1also negatively regulates autophagy through phosphorylation ofULK1. Under nutrient sufficiency, phosphorylates ULK1 at 'Ser-758', disrupting the interaction with AMPK and preventingactivation of ULK1. Also prevents autophagy throughphosphorylation of the autophagy inhibitor DAP. mTORC1 exerts afeedback control on upstream growth factor signaling that includesphosphorylation and activation of GRB10 a INSR-dependent signalingsuppressor. Among other potential targets mTORC1 may phosphorylateCLIP1 and regulate microtubules. As part of the mTORC2 complexMTOR may regulate other cellular processes including survival andorganization of the cytoskeleton. Plays a critical role in thephosphorylation at 'Ser-473' of AKT1, a pro-survival effector ofphosphoinositide 3-kinase, facilitating its activation by PDK1.mTORC2 may regulate the actin cytoskeleton, throughphosphorylation of PRKCA, PXN and activation of the Rho-typeguanine nucleotide exchange factors RHOA and RAC1A or RAC1B.mTORC2 also regulates the phosphorylation of SGK1 at 'Ser-422'(PubMed:12087098, PubMed:12150925, PubMed:12150926,PubMed:12231510, PubMed:12718876, PubMed:14651849,PubMed:15268862, PubMed:15467718, PubMed:15545625,PubMed:15718470, PubMed:18497260, PubMed:18762023,PubMed:18925875, PubMed:20516213, PubMed:20537536,PubMed:21659604, PubMed:23429703, PubMed:23429704,PubMed:25799227, PubMed:26018084). Regulates osteoclastogenesis byadjusting the expression of CEBPB isoforms (By similarity).{ECO:0000250|UniProtKB:Q9JLN9, ECO:0000269|PubMed:12087098,ECO:0000269|PubMed:12150925, ECO:0000269|PubMed:12150926,ECO:0000269|PubMed:12231510, ECO:0000269|PubMed:12718876,ECO:0000269|PubMed:14651849, ECO:0000269|PubMed:15268862,ECO:0000269|PubMed:15467718, ECO:0000269|PubMed:15545625,ECO:0000269|PubMed:15718470, ECO:0000269|PubMed:18497260,ECO:0000269|PubMed:18762023, ECO:0000269|PubMed:18925875,ECO:0000269|PubMed:20516213, ECO:0000269|PubMed:20537536,ECO:0000269|PubMed:21659604, ECO:0000269|PubMed:23429703,ECO:0000269|PubMed:23429704, ECO:0000269|PubMed:25799227,ECO:0000269|PubMed:26018084}. |
| Retention analysis result of each fusion partner protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features. Here, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at . * Minus value of BPloci means that the break pointn is located before the CDS. |
| - In-frame and retained protein feature among the 13 regional features. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
| - In-frame and not-retained protein feature among the 13 regional features. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
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FusionGeneSequence for RASGEF1B_MTOR |
| For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. (nt: nucleotides, aa: amino acids) |
| * Fusion amino acid sequences. |
| * Fusion transcript sequences (only coding sequence (CDS) region). |
| * Fusion transcript sequences (Full-length transcript). |
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FusionGenePPI for RASGEF1B_MTOR |
| Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in . |
| Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160) |
| Hgene | Hgene's interactors | Tgene | Tgene's interactors |
| - Retained PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
| - Lost PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
| - Retained PPIs, but lost function due to frame-shift fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for RASGEF1B_MTOR |
| Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.0 2018-04-02) |
| Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
| Tgene | MTOR | P42345 | DB01590 | Everolimus | Serine/threonine-protein kinase mTOR | small molecule | approved |
| Tgene | MTOR | P42345 | DB06287 | Temsirolimus | Serine/threonine-protein kinase mTOR | small molecule | approved |
| Tgene | MTOR | P42345 | DB00337 | Pimecrolimus | Serine/threonine-protein kinase mTOR | small molecule | approved|investigational |
| Tgene | MTOR | P42345 | DB00877 | Sirolimus | Serine/threonine-protein kinase mTOR | small molecule | approved|investigational |
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RelatedDiseases for RASGEF1B_MTOR |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | RASGEF1B | C3495559 | Juvenile arthritis | 1 | CTD_human |
| Tgene | MTOR | C0041696 | Unipolar Depression | 2 | PSYGENET |
| Tgene | MTOR | C1269683 | Major Depressive Disorder | 2 | PSYGENET |
| Tgene | MTOR | C0001418 | Adenocarcinoma | 1 | CTD_human |
| Tgene | MTOR | C0007134 | Renal Cell Carcinoma | 1 | CTD_human |
| Tgene | MTOR | C0007873 | Uterine Cervical Neoplasm | 1 | CTD_human |
| Tgene | MTOR | C0020538 | Hypertensive disease | 1 | CTD_human |
| Tgene | MTOR | C0025500 | Mesothelioma | 1 | CTD_human |
| Tgene | MTOR | C0036341 | Schizophrenia | 1 | CTD_human |
| Tgene | MTOR | C0149721 | Left Ventricular Hypertrophy | 1 | CTD_human |
| Tgene | MTOR | C0235032 | Neurotoxicity Syndromes | 1 | CTD_human |
| Tgene | MTOR | C0262584 | Carcinoma, Small Cell | 1 | CTD_human |
| Tgene | MTOR | C0334634 | Malignant lymphoma, lymphocytic, intermediate differentiation, diffuse | 1 | CTD_human |
| Tgene | MTOR | C0588006 | Mild depression | 1 | PSYGENET |
| Tgene | MTOR | C0919267 | ovarian neoplasm | 1 | CTD_human |
| Tgene | MTOR | C1955869 | Malformations of Cortical Development | 1 | CTD_human |
| Tgene | MTOR | C1961099 | Precursor T-Cell Lymphoblastic Leukemia-Lymphoma | 1 | CTD_human |
| Tgene | MTOR | C2239176 | Liver carcinoma | 1 | CTD_human |
| Tgene | MTOR | C4225259 | SMITH-KINGSMORE SYNDROME | 1 | ORPHANET;UNIPROT |
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