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Fusion gene ID: 1417 |
FusionGeneSummary for AKT3_HEATR1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: AKT3_HEATR1 | Fusion gene ID: 1417 | Hgene | Tgene | Gene symbol | AKT3 | HEATR1 | Gene ID | 10000 | 55127 |
| Gene name | AKT serine/threonine kinase 3 | HEAT repeat containing 1 | |
| Synonyms | MPPH|MPPH2|PKB-GAMMA|PKBG|PRKBG|RAC-PK-gamma|RAC-gamma|STK-2 | BAP28|UTP10 | |
| Cytomap | 1q43-q44 | 1q43 | |
| Type of gene | protein-coding | protein-coding | |
| Description | RAC-gamma serine/threonine-protein kinasePKB gammaRAC-gamma serine/threonine protein kinasev-akt murine thymoma viral oncogene homolog 3 (protein kinase B, gamma) | HEAT repeat-containing protein 1U3 small nucleolar RNA-associated protein 10 homologUTP10, small subunit (SSU) processome component, homologprotein BAP28 | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | Q9Y243 | Q9H583 | |
| Ensembl transtripts involved in fusion gene | ENST00000336199, ENST00000366540, ENST00000366539, ENST00000263826, ENST00000492957, | ENST00000366582, ENST00000366581, ENST00000483073, ENST00000366579, | |
| Fusion gene scores | * DoF score | 8 X 5 X 5=200 | 2 X 2 X 3=12 |
| # samples | 9 | 3 | |
| ** MAII score | log2(9/200*10)=-1.15200309344505 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(3/12*10)=1.32192809488736 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: AKT3 [Title/Abstract] AND HEATR1 [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 |
| Hgene | AKT3 | GO:0043536 | positive regulation of blood vessel endothelial cell migration | 28254819 |
| Hgene | AKT3 | GO:1905564 | positive regulation of vascular endothelial cell proliferation | 28254819 |
| 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 | RV | MESO | TCGA-UT-A88E-01B | AKT3 | chr1 | 243800913 | - | HEATR1 | chr1 | 236714290 | - |
| * 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 |
| Frame-shift | ENST00000336199 | ENST00000366582 | AKT3 | chr1 | 243800913 | - | HEATR1 | chr1 | 236714290 | - |
| Frame-shift | ENST00000336199 | ENST00000366581 | AKT3 | chr1 | 243800913 | - | HEATR1 | chr1 | 236714290 | - |
| 5CDS-intron | ENST00000336199 | ENST00000483073 | AKT3 | chr1 | 243800913 | - | HEATR1 | chr1 | 236714290 | - |
| 5CDS-intron | ENST00000336199 | ENST00000366579 | AKT3 | chr1 | 243800913 | - | HEATR1 | chr1 | 236714290 | - |
| Frame-shift | ENST00000366540 | ENST00000366582 | AKT3 | chr1 | 243800913 | - | HEATR1 | chr1 | 236714290 | - |
| Frame-shift | ENST00000366540 | ENST00000366581 | AKT3 | chr1 | 243800913 | - | HEATR1 | chr1 | 236714290 | - |
| 5CDS-intron | ENST00000366540 | ENST00000483073 | AKT3 | chr1 | 243800913 | - | HEATR1 | chr1 | 236714290 | - |
| 5CDS-intron | ENST00000366540 | ENST00000366579 | AKT3 | chr1 | 243800913 | - | HEATR1 | chr1 | 236714290 | - |
| Frame-shift | ENST00000366539 | ENST00000366582 | AKT3 | chr1 | 243800913 | - | HEATR1 | chr1 | 236714290 | - |
| Frame-shift | ENST00000366539 | ENST00000366581 | AKT3 | chr1 | 243800913 | - | HEATR1 | chr1 | 236714290 | - |
| 5CDS-intron | ENST00000366539 | ENST00000483073 | AKT3 | chr1 | 243800913 | - | HEATR1 | chr1 | 236714290 | - |
| 5CDS-intron | ENST00000366539 | ENST00000366579 | AKT3 | chr1 | 243800913 | - | HEATR1 | chr1 | 236714290 | - |
| Frame-shift | ENST00000263826 | ENST00000366582 | AKT3 | chr1 | 243800913 | - | HEATR1 | chr1 | 236714290 | - |
| Frame-shift | ENST00000263826 | ENST00000366581 | AKT3 | chr1 | 243800913 | - | HEATR1 | chr1 | 236714290 | - |
| 5CDS-intron | ENST00000263826 | ENST00000483073 | AKT3 | chr1 | 243800913 | - | HEATR1 | chr1 | 236714290 | - |
| 5CDS-intron | ENST00000263826 | ENST00000366579 | AKT3 | chr1 | 243800913 | - | HEATR1 | chr1 | 236714290 | - |
| intron-3CDS | ENST00000492957 | ENST00000366582 | AKT3 | chr1 | 243800913 | - | HEATR1 | chr1 | 236714290 | - |
| intron-3CDS | ENST00000492957 | ENST00000366581 | AKT3 | chr1 | 243800913 | - | HEATR1 | chr1 | 236714290 | - |
| intron-intron | ENST00000492957 | ENST00000483073 | AKT3 | chr1 | 243800913 | - | HEATR1 | chr1 | 236714290 | - |
| intron-intron | ENST00000492957 | ENST00000366579 | AKT3 | chr1 | 243800913 | - | HEATR1 | chr1 | 236714290 | - |
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FusionProtFeatures for AKT3_HEATR1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| AKT3 | HEATR1 |
| AKT3 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. AKT3 is the least studied AKT isoform. It plays animportant role in brain development and is crucial for theviability of malignant glioma cells. AKT3 isoform may also be thekey molecule in up-regulation and down-regulation of MMP13 viaIL13. Required for the coordination of mitochondrial biogenesiswith growth factor-induced increases in cellular energy demands.Down-regulation by RNA interference reduces the expression of thephosphorylated form of BAD, resulting in the induction of caspase-dependent apoptosis. {ECO:0000269|PubMed:18524868,ECO:0000269|PubMed:21191416}. | Ribosome biogenesis factor. Involved in nucleolarprocessing of pre-18S ribosomal RNA. Required for optimal pre-ribosomal RNA transcription by RNA polymerase I.{ECO:0000269|PubMed:17699751}. |
| 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 AKT3_HEATR1 |
| 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 AKT3_HEATR1 |
| 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 |
| AKT3 | TCL1A, PRKCZ, NEDD4, TTC3, NEDD4L, GSK3B, PLEKHO1, EIF4EBP1, RPE, CASP3, AKT1, HSP90AB4P, HSP90AB3P, HSP90AA4P, HSP90AA5P, PIANP, HSP90AB1, FKBP5, HSP90AA1, CDC37, SNX8, TOX2, PRMT6, PPP2CA | HEATR1 | ILK, PTP4A3, PELO, MAGED1, TTBK1, MYC, SIRT7, VCP, VCAM1, ITGA4, HDAC11, XRN1, LGR4, VPS52, AAGAB, CUL7, OBSL1, CCDC8, SUZ12, EED, RNF2, BMI1, CD274, TNFSF13B, CA14, HLA-B, CD244, SLAMF1, TGOLN2, IQCF1, SCN2B, ALDH3A2, PSMA2, PSMA5, PSMB3, PSMB8, PSMD3, PSMD8, SRSF3, UTP15, NTRK1, IFI16, SMC6, FOXB1, FOXE1, FOXG1, FOXH1, FOXI1, FOXL1, FOXQ1, MCM2, MTMR3, TSPYL6, GFAP, SELENBP1, LRRC15, LAMP3, SLC27A2, DUSP14, STOM |
| - 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 AKT3_HEATR1 |
| 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 |
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RelatedDiseases for AKT3_HEATR1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | AKT3 | C4014738 | MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2 | 3 | UNIPROT |
| Hgene | AKT3 | C1863924 | Megalanecephaly Polymicrogyria-Polydactyly Hydrocephalus Syndrome | 1 | CTD_human |
| Hgene | AKT3 | C1955869 | Malformations of Cortical Development | 1 | CTD_human |
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