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Fusion gene ID: 4114 |
FusionGeneSummary for BECN1_GPATCH8 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: BECN1_GPATCH8 | Fusion gene ID: 4114 | Hgene | Tgene | Gene symbol | BECN1 | GPATCH8 | Gene ID | 8678 | 23131 |
| Gene name | beclin 1 | G-patch domain containing 8 | |
| Synonyms | ATG6|VPS30|beclin1 | GPATC8|KIAA0553 | |
| Cytomap | 17q21.31 | 17q21.31 | |
| Type of gene | protein-coding | protein-coding | |
| Description | beclin-1ATG6 autophagy related 6 homologbeclin 1 (coiled-coil, moesin-like BCL2-interacting protein)beclin 1, autophagy relatedcoiled-coil myosin-like BCL2-interacting proteintestis secretory sperm-binding protein Li 215e | G patch domain-containing protein 8 | |
| Modification date | 20180527 | 20180522 | |
| UniProtAcc | Q14457 | Q9UKJ3 | |
| Ensembl transtripts involved in fusion gene | ENST00000361523, ENST00000590099, ENST00000438274, | ENST00000434000, ENST00000591680, ENST00000586265, ENST00000592154, ENST00000588554, | |
| Fusion gene scores | * DoF score | 1 X 1 X 1=1 | 8 X 6 X 7=336 |
| # samples | 1 | 9 | |
| ** MAII score | log2(1/1*10)=3.32192809488736 | log2(9/336*10)=-1.90046432644909 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: BECN1 [Title/Abstract] AND GPATCH8 [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 | BECN1 | GO:0006914 | autophagy | 23629966 |
| 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 | HNSC | TCGA-F7-A623-01A | BECN1 | chr17 | 40965966 | - | GPATCH8 | chr17 | 42516083 | - |
| * 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-intron | ENST00000361523 | ENST00000434000 | BECN1 | chr17 | 40965966 | - | GPATCH8 | chr17 | 42516083 | - |
| 5CDS-intron | ENST00000361523 | ENST00000591680 | BECN1 | chr17 | 40965966 | - | GPATCH8 | chr17 | 42516083 | - |
| 5CDS-5UTR | ENST00000361523 | ENST00000586265 | BECN1 | chr17 | 40965966 | - | GPATCH8 | chr17 | 42516083 | - |
| 5CDS-intron | ENST00000361523 | ENST00000592154 | BECN1 | chr17 | 40965966 | - | GPATCH8 | chr17 | 42516083 | - |
| 5CDS-intron | ENST00000361523 | ENST00000588554 | BECN1 | chr17 | 40965966 | - | GPATCH8 | chr17 | 42516083 | - |
| 5CDS-intron | ENST00000590099 | ENST00000434000 | BECN1 | chr17 | 40965966 | - | GPATCH8 | chr17 | 42516083 | - |
| 5CDS-intron | ENST00000590099 | ENST00000591680 | BECN1 | chr17 | 40965966 | - | GPATCH8 | chr17 | 42516083 | - |
| 5CDS-5UTR | ENST00000590099 | ENST00000586265 | BECN1 | chr17 | 40965966 | - | GPATCH8 | chr17 | 42516083 | - |
| 5CDS-intron | ENST00000590099 | ENST00000592154 | BECN1 | chr17 | 40965966 | - | GPATCH8 | chr17 | 42516083 | - |
| 5CDS-intron | ENST00000590099 | ENST00000588554 | BECN1 | chr17 | 40965966 | - | GPATCH8 | chr17 | 42516083 | - |
| 5CDS-intron | ENST00000438274 | ENST00000434000 | BECN1 | chr17 | 40965966 | - | GPATCH8 | chr17 | 42516083 | - |
| 5CDS-intron | ENST00000438274 | ENST00000591680 | BECN1 | chr17 | 40965966 | - | GPATCH8 | chr17 | 42516083 | - |
| 5CDS-5UTR | ENST00000438274 | ENST00000586265 | BECN1 | chr17 | 40965966 | - | GPATCH8 | chr17 | 42516083 | - |
| 5CDS-intron | ENST00000438274 | ENST00000592154 | BECN1 | chr17 | 40965966 | - | GPATCH8 | chr17 | 42516083 | - |
| 5CDS-intron | ENST00000438274 | ENST00000588554 | BECN1 | chr17 | 40965966 | - | GPATCH8 | chr17 | 42516083 | - |
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FusionProtFeatures for BECN1_GPATCH8 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| BECN1 | GPATCH8 |
| Plays a central role in autophagy (PubMed:23184933,PubMed:28445460). Acts as core subunit of the PI3K complex thatmediates formation of phosphatidylinositol 3-phosphate; differentcomplex forms are believed to play a role in multiple membranetrafficking pathways: PI3KC3-C1 is involved in initiation ofautophagosomes and PI3KC3-C2 in maturation of autophagosomes andendocytosis. Involved in regulation of degradative endocytictrafficking and required for the abcission step in cytokinesis,probably in the context of PI3KC3-C2 (PubMed:20643123,PubMed:20208530, PubMed:26783301). Essential for the formation ofPI3KC3-C2 but not PI3KC3-C1 PI3K complex forms. Involved inendocytosis (PubMed:25275521). Protects against infection by aneurovirulent strain of Sindbis virus (PubMed:9765397). May play arole in antiviral host defense. {ECO:0000269|PubMed:20208530,ECO:0000269|PubMed:20643123, ECO:0000269|PubMed:23184933,ECO:0000269|PubMed:25275521, ECO:0000269|PubMed:26783301,ECO:0000269|PubMed:28445460, ECO:0000269|PubMed:9765397,ECO:0000305}. Beclin-1-C 35 kDa localized to mitochondria can promoteapoptosis; it induces the mitochondrial translocation of BAX andthe release of proapoptotic factors. {ECO:0000269|PubMed:21364619,ECO:0000269|PubMed:26263979}. |
| 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 BECN1_GPATCH8 |
| 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 BECN1_GPATCH8 |
| 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 |
| BECN1 | BCL2, GOPC, BCL2L1, TSC1, PIK3C3, PIK3R4, SLC27A4, UVRAG, DZIP3, PTOV1, TBC1D7, ATG14, KIAA0226, TRABD, NRBF2, TP53BP2, AMBRA1, GSPT1, AFG3L2, SEH1L, PRKDC, KIAA0226L, ZWINT, SMC1A, SMC3, TRAF6, UBC, TNFAIP3, BECN1, HSP90AA1, TAB2, TAB3, NEDD4, ITCH, GFI1B, PYCARD, HSPA1A, S100A8, MCL1, WASH1, USP33, EXOC2, ATG3, EXOC8, EXOC4, ULK1, PARK2, BRCA1, DACT1, RNF2, CHAF1A, CDKN2A, PIK3CG, DAPK1, DYNLL1, DYNC1I1, CASP3, DDB1, YES1, BTK, FRS2, SHD, USP18, HERC5, XPO1, TCOF1, NLRP2, NLRP5, TRIB1, MDN1, NGDN, LSM3, RNF216, BIRC5, MEFV, TRIM21, IRGM, TUFM, TP53, RELA, MAPKAPK2, MAPKAPK3, TRIM16, TRAF2, SPHK1, WDR81, WDR91, HAX1 | GPATCH8 | TERF2, ATXN1, ATXN1L, APH1A, NUMBL, CLK3, TP53, BMI1, JAK3, BTRC, HCCS, LUC7L, RBFOX2, LUC7L2, SNIP1, LACC1, EPB41L3, RNPS1, EWSR1, ABCA2, FDX1, PON2, TIMM13, TIMM8B, TMEM165, PCGF1, NANOG, PHF12, GATAD1, EGFR, PIP4K2A, EPB41L2, U2AF2, CLK2, JPH4, CAMKV, OLFM2, ESRP1, CD2BP2, TRIM25 |
| - 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 BECN1_GPATCH8 |
| 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 | BECN1 | Q14457 | DB00783 | Estradiol | Beclin-1 | small molecule | approved|investigational|vet_approved |
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RelatedDiseases for BECN1_GPATCH8 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | BECN1 | C0024121 | Lung Neoplasms | 2 | CTD_human |
| Hgene | BECN1 | C0009375 | Colonic Neoplasms | 1 | CTD_human |
| Hgene | BECN1 | C0027051 | Myocardial Infarction | 1 | CTD_human |
| Hgene | BECN1 | C0036341 | Schizophrenia | 1 | PSYGENET |
| Hgene | BECN1 | C0038220 | Status Epilepticus | 1 | CTD_human |
| Hgene | BECN1 | C0752347 | Lewy Body Disease | 1 | CTD_human |
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