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Fusion gene ID: 3982 |
FusionGeneSummary for BCAT1_AKT2 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: BCAT1_AKT2 | Fusion gene ID: 3982 | Hgene | Tgene | Gene symbol | BCAT1 | AKT2 | Gene ID | 586 | 208 |
| Gene name | branched chain amino acid transaminase 1 | AKT serine/threonine kinase 2 | |
| Synonyms | BCATC|BCT1|ECA39|MECA39|PNAS121|PP18 | HIHGHH|PKBB|PKBBETA|PRKBB|RAC-BETA | |
| Cytomap | 12p12.1 | 19q13.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | branched-chain-amino-acid aminotransferase, cytosolicbranched chain amino-acid transaminase 1, cytosolicbranched chain aminotransferase 1, cytosolicplacental protein 18 | RAC-beta serine/threonine-protein kinasePKB betaRAC-PK-betamurine thymoma viral (v-akt) homolog-2protein kinase Akt-2protein kinase B betaputative v-akt murine thymoma viral oncoprotein 2rac protein kinase betav-akt murine thymoma viral oncogene h | |
| Modification date | 20180523 | 20180527 | |
| UniProtAcc | P54687 | P31751 | |
| Ensembl transtripts involved in fusion gene | ENST00000261192, ENST00000538118, ENST00000342945, ENST00000539282, ENST00000539780, ENST00000544418, | ENST00000392038, ENST00000424901, ENST00000311278, ENST00000579047, ENST00000581582, | |
| Fusion gene scores | * DoF score | 9 X 9 X 3=243 | 8 X 7 X 5=280 |
| # samples | 10 | 8 | |
| ** MAII score | log2(10/243*10)=-1.28095631383106 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(8/280*10)=-1.8073549220576 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: BCAT1 [Title/Abstract] AND AKT2 [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 | AKT2 | GO:0030335 | positive regulation of cell migration | 25428377 |
| 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 |
| TCGA | LD | OV | TCGA-25-2404-01A | BCAT1 | chr12 | 25047209 | - | AKT2 | chr19 | 40771258 | - |
| * 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 |
| 5CDS-5UTR | ENST00000261192 | ENST00000392038 | BCAT1 | chr12 | 25047209 | - | AKT2 | chr19 | 40771258 | - |
| 5CDS-intron | ENST00000261192 | ENST00000424901 | BCAT1 | chr12 | 25047209 | - | AKT2 | chr19 | 40771258 | - |
| 5CDS-intron | ENST00000261192 | ENST00000311278 | BCAT1 | chr12 | 25047209 | - | AKT2 | chr19 | 40771258 | - |
| 5CDS-intron | ENST00000261192 | ENST00000579047 | BCAT1 | chr12 | 25047209 | - | AKT2 | chr19 | 40771258 | - |
| 5CDS-intron | ENST00000261192 | ENST00000581582 | BCAT1 | chr12 | 25047209 | - | AKT2 | chr19 | 40771258 | - |
| 5CDS-5UTR | ENST00000538118 | ENST00000392038 | BCAT1 | chr12 | 25047209 | - | AKT2 | chr19 | 40771258 | - |
| 5CDS-intron | ENST00000538118 | ENST00000424901 | BCAT1 | chr12 | 25047209 | - | AKT2 | chr19 | 40771258 | - |
| 5CDS-intron | ENST00000538118 | ENST00000311278 | BCAT1 | chr12 | 25047209 | - | AKT2 | chr19 | 40771258 | - |
| 5CDS-intron | ENST00000538118 | ENST00000579047 | BCAT1 | chr12 | 25047209 | - | AKT2 | chr19 | 40771258 | - |
| 5CDS-intron | ENST00000538118 | ENST00000581582 | BCAT1 | chr12 | 25047209 | - | AKT2 | chr19 | 40771258 | - |
| 5CDS-5UTR | ENST00000342945 | ENST00000392038 | BCAT1 | chr12 | 25047209 | - | AKT2 | chr19 | 40771258 | - |
| 5CDS-intron | ENST00000342945 | ENST00000424901 | BCAT1 | chr12 | 25047209 | - | AKT2 | chr19 | 40771258 | - |
| 5CDS-intron | ENST00000342945 | ENST00000311278 | BCAT1 | chr12 | 25047209 | - | AKT2 | chr19 | 40771258 | - |
| 5CDS-intron | ENST00000342945 | ENST00000579047 | BCAT1 | chr12 | 25047209 | - | AKT2 | chr19 | 40771258 | - |
| 5CDS-intron | ENST00000342945 | ENST00000581582 | BCAT1 | chr12 | 25047209 | - | AKT2 | chr19 | 40771258 | - |
| 5CDS-5UTR | ENST00000539282 | ENST00000392038 | BCAT1 | chr12 | 25047209 | - | AKT2 | chr19 | 40771258 | - |
| 5CDS-intron | ENST00000539282 | ENST00000424901 | BCAT1 | chr12 | 25047209 | - | AKT2 | chr19 | 40771258 | - |
| 5CDS-intron | ENST00000539282 | ENST00000311278 | BCAT1 | chr12 | 25047209 | - | AKT2 | chr19 | 40771258 | - |
| 5CDS-intron | ENST00000539282 | ENST00000579047 | BCAT1 | chr12 | 25047209 | - | AKT2 | chr19 | 40771258 | - |
| 5CDS-intron | ENST00000539282 | ENST00000581582 | BCAT1 | chr12 | 25047209 | - | AKT2 | chr19 | 40771258 | - |
| 5CDS-5UTR | ENST00000539780 | ENST00000392038 | BCAT1 | chr12 | 25047209 | - | AKT2 | chr19 | 40771258 | - |
| 5CDS-intron | ENST00000539780 | ENST00000424901 | BCAT1 | chr12 | 25047209 | - | AKT2 | chr19 | 40771258 | - |
| 5CDS-intron | ENST00000539780 | ENST00000311278 | BCAT1 | chr12 | 25047209 | - | AKT2 | chr19 | 40771258 | - |
| 5CDS-intron | ENST00000539780 | ENST00000579047 | BCAT1 | chr12 | 25047209 | - | AKT2 | chr19 | 40771258 | - |
| 5CDS-intron | ENST00000539780 | ENST00000581582 | BCAT1 | chr12 | 25047209 | - | AKT2 | chr19 | 40771258 | - |
| 5UTR-5UTR | ENST00000544418 | ENST00000392038 | BCAT1 | chr12 | 25047209 | - | AKT2 | chr19 | 40771258 | - |
| 5UTR-intron | ENST00000544418 | ENST00000424901 | BCAT1 | chr12 | 25047209 | - | AKT2 | chr19 | 40771258 | - |
| 5UTR-intron | ENST00000544418 | ENST00000311278 | BCAT1 | chr12 | 25047209 | - | AKT2 | chr19 | 40771258 | - |
| 5UTR-intron | ENST00000544418 | ENST00000579047 | BCAT1 | chr12 | 25047209 | - | AKT2 | chr19 | 40771258 | - |
| 5UTR-intron | ENST00000544418 | ENST00000581582 | BCAT1 | chr12 | 25047209 | - | AKT2 | chr19 | 40771258 | - |
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FusionProtFeatures for BCAT1_AKT2 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| BCAT1 | AKT2 |
| Catalyzes the first reaction in the catabolism of theessential branched chain amino acids leucine, isoleucine, andvaline. | AKT2 is one of 3 closely related serine/threonine-protein kinases (AKT1, AKT2 and AKT3) called the AKT kinase, andwhich regulate many processes including metabolism, proliferation,cell survival, growth and angiogenesis. This is mediated throughserine and/or threonine phosphorylation of a range of downstreamsubstrates. Over 100 substrate candidates have been reported sofar, but for most of them, no isoform specificity has beenreported. AKT is responsible of the regulation of glucose uptakeby mediating insulin-induced translocation of the SLC2A4/GLUT4glucose transporter to the cell surface. Phosphorylation of PTPN1at 'Ser-50' negatively modulates its phosphatase activitypreventing dephosphorylation of the insulin receptor and theattenuation of insulin signaling. Phosphorylation of TBC1D4triggers the binding of this effector to inhibitory 14-3-3proteins, which is required for insulin-stimulated glucosetransport. AKT regulates also the storage of glucose in the formof glycogen by phosphorylating GSK3A at 'Ser-21' and GSK3B at'Ser-9', resulting in inhibition of its kinase activity.Phosphorylation of GSK3 isoforms by AKT is also thought to be onemechanism by which cell proliferation is driven. AKT regulatesalso cell survival via the phosphorylation of MAP3K5 (apoptosissignal-related kinase). Phosphorylation of 'Ser-83' decreasesMAP3K5 kinase activity stimulated by oxidative stress and therebyprevents apoptosis. AKT mediates insulin-stimulated proteinsynthesis by phosphorylating TSC2 at 'Ser-939' and 'Thr-1462',thereby activating mTORC1 signaling and leading to bothphosphorylation of 4E-BP1 and in activation of RPS6KB1. AKT isinvolved in the phosphorylation of members of the FOXO factors(Forkhead family of transcription factors), leading to binding of14-3-3 proteins and cytoplasmic localization. In particular, FOXO1is phosphorylated at 'Thr-24', 'Ser-256' and 'Ser-319'. FOXO3 andFOXO4 are phosphorylated on equivalent sites. AKT has an importantrole in the regulation of NF-kappa-B-dependent gene transcriptionand positively regulates the activity of CREB1 (cyclic AMP (cAMP)-response element binding protein). The phosphorylation of CREB1induces the binding of accessory proteins that are necessary forthe transcription of pro-survival genes such as BCL2 and MCL1. AKTphosphorylates 'Ser-454' on ATP citrate lyase (ACLY), therebypotentially regulating ACLY activity and fatty acid synthesis.Activates the 3B isoform of cyclic nucleotide phosphodiesterase(PDE3B) via phosphorylation of 'Ser-273', resulting in reducedcyclic AMP levels and inhibition of lipolysis. PhosphorylatesPIKFYVE on 'Ser-318', which results in increased PI(3)P-5activity. The Rho GTPase-activating protein DLC1 is anothersubstrate and its phosphorylation is implicated in the regulationcell proliferation and cell growth. AKT plays a role as keymodulator of the AKT-mTOR signaling pathway controlling the tempoof the process of newborn neurons integration during adultneurogenesis, including correct neuron positioning, dendriticdevelopment and synapse formation. Signals downstream ofphosphatidylinositol 3-kinase (PI(3)K) to mediate the effects ofvarious growth factors such as platelet-derived growth factor(PDGF), epidermal growth factor (EGF), insulin and insulin-likegrowth factor I (IGF-I). AKT mediates the antiapoptotic effects ofIGF-I. Essential for the SPATA13-mediated regulation of cellmigration and adhesion assembly and disassembly. May be involvedin the regulation of the placental development. One of the few specific substrates of AKT2 identifiedrecently is PITX2. Phosphorylation of PITX2 impairs itsassociation with the CCND1 mRNA-stabilizing complex thusshortening the half-life of CCND1. AKT2 seems also to be theprincipal isoform responsible of the regulation of glucose uptake.Phosphorylates C2CD5 on 'Ser-197' during insulin-stimulatedadipocytes. AKT2 is also specifically involved in skeletal muscledifferentiation, one of its substrates in this process beingANKRD2. Down-regulation by RNA interference reduces the expressionof the phosphorylated form of BAD, resulting in the induction ofcaspase-dependent apoptosis. Phosphorylates CLK2 on 'Thr-343'. |
| 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 BCAT1_AKT2 |
| 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 BCAT1_AKT2 |
| 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 |
| BCAT1 | SMAD5, KDM1A, PRMT6, AGL, DUS3L, PUS1, GTF2F1, PSAP, SERPINE2, SNF8, YEATS2, USP15, PRR14L, FLYWCH2, EIF4G3, LRIF1, PPP2R5D, ZNHIT2, RAB3GAP1, HELZ, PER1, PJA1, ATXN2, TRMT44, ARNT, FBXO7, ARID3B, TRIP12, GFOD1, MORN5, CCDC120, FAM213B, GTF2A1, ZZZ3, ADPRH, PROSER2, DMWD | AKT2 | APPL1, SH3RF1, GSK3B, TCL1A, CHUK, PRKDC, TCL1B, MTCP1, XIAP, SETDB1, TTC3, ESR1, GRK5, SKI, VIM, FSHR, APP, HSP90AA1, MAP3K5, PNPLA3, SNX27, APOA1, APOB, CCL14, SPRR2A, SORBS2, NAMPT, TMED2, POFUT1, ABCG8, STEAP4, POLR1B, EGFR, PRKCZ, CLIP3, PLEKHO1, SNAI1, HIST1H3A, CDKN1A, PSMD9, CDK3, CSK, EIF4EBP1, GGA1, PIK3CB, PIK3CD, RPE, TMEM17, AP4M1, RACGAP1, AKT1, UBE2O, NR2F2, TPM2, USP9Y, FAT3, UBB, NSMCE4A, VHL, EGLN1, PPP2CA, PDPK1, UCHL1, WDR26, GNB1 |
| - 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 BCAT1_AKT2 |
| 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 |
| Hgene | BCAT1 | P54687 | DB00114 | Pyridoxal Phosphate | Branched-chain-amino-acid aminotransferase, cytosolic | small molecule | approved|investigational|nutraceutical |
| Hgene | BCAT1 | P54687 | DB00142 | Glutamic Acid | Branched-chain-amino-acid aminotransferase, cytosolic | small molecule | approved|nutraceutical |
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RelatedDiseases for BCAT1_AKT2 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | BCAT1 | C0043094 | Weight Gain | 1 | CTD_human |
| Tgene | AKT2 | C0005586 | Bipolar Disorder | 1 | PSYGENET |
| Tgene | AKT2 | C0011860 | Diabetes Mellitus, Non-Insulin-Dependent | 1 | CTD_human;HPO;UNIPROT |
| Tgene | AKT2 | C0271694 | Familial partial lipodystrophy | 1 | CTD_human |
| Tgene | AKT2 | C1458155 | Mammary Neoplasms | 1 | CTD_human |
| Tgene | AKT2 | C2931822 | Nasopharyngeal carcinoma | 1 | CTD_human |
| Tgene | AKT2 | C3278384 | HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY | 1 | ORPHANET;UNIPROT |
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