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Fusion gene ID: 1588 |
FusionGeneSummary for AMBRA1_ARHGAP1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: AMBRA1_ARHGAP1 | Fusion gene ID: 1588 | Hgene | Tgene | Gene symbol | AMBRA1 | ARHGAP1 | Gene ID | 55626 | 392 |
| Gene name | autophagy and beclin 1 regulator 1 | Rho GTPase activating protein 1 | |
| Synonyms | DCAF3|WDR94 | CDC42GAP|RHOGAP|RHOGAP1|p50rhoGAP | |
| Cytomap | 11p11.2 | 11p11.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | activating molecule in BECN1-regulated autophagy protein 1DDB1 and CUL4 associated factor 3WD repeat domain 94activating molecule in beclin-1-regulated autophagyautophagy/beclin-1 regulator 1 | rho GTPase-activating protein 1CDC42 GTPase-activating proteinGTPase-activating protein rhoGAPGTPase-activating protein rhoOGAPGTPase-activating protein, Rho, 1rho-related small GTPase protein activatorrho-type GTPase-activating protein 1 | |
| Modification date | 20180523 | 20180522 | |
| UniProtAcc | Q9C0C7 | Q07960 | |
| Ensembl transtripts involved in fusion gene | ENST00000298834, ENST00000426438, ENST00000314845, ENST00000533727, ENST00000534300, ENST00000458649, ENST00000528950, ENST00000529963, | ENST00000311956, | |
| Fusion gene scores | * DoF score | 10 X 5 X 13=650 | 7 X 5 X 5=175 |
| # samples | 18 | 9 | |
| ** MAII score | log2(18/650*10)=-1.85244281158614 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(9/175*10)=-0.959358015502654 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: AMBRA1 [Title/Abstract] AND ARHGAP1 [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 | AMBRA1 | GO:0000423 | mitophagy | 21753002 |
| Hgene | AMBRA1 | GO:0043552 | positive regulation of phosphatidylinositol 3-kinase activity | 21753002 |
| Hgene | AMBRA1 | GO:0098780 | response to mitochondrial depolarisation | 21753002 |
| Tgene | ARHGAP1 | GO:0007264 | small GTPase mediated signal transduction | 8253717|8288572 |
| 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 | LUAD | TCGA-49-4488-01A | AMBRA1 | chr11 | 46563495 | - | ARHGAP1 | chr11 | 46717706 | - |
| TCGA | RV | LUAD | TCGA-62-A46R-01A | AMBRA1 | chr11 | 46615378 | - | ARHGAP1 | chr11 | 46703732 | - |
| * 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 | ENST00000298834 | ENST00000311956 | AMBRA1 | chr11 | 46563495 | - | ARHGAP1 | chr11 | 46717706 | - |
| 5CDS-5UTR | ENST00000426438 | ENST00000311956 | AMBRA1 | chr11 | 46563495 | - | ARHGAP1 | chr11 | 46717706 | - |
| 5CDS-5UTR | ENST00000314845 | ENST00000311956 | AMBRA1 | chr11 | 46563495 | - | ARHGAP1 | chr11 | 46717706 | - |
| 5CDS-5UTR | ENST00000533727 | ENST00000311956 | AMBRA1 | chr11 | 46563495 | - | ARHGAP1 | chr11 | 46717706 | - |
| 5CDS-5UTR | ENST00000534300 | ENST00000311956 | AMBRA1 | chr11 | 46563495 | - | ARHGAP1 | chr11 | 46717706 | - |
| 5CDS-5UTR | ENST00000458649 | ENST00000311956 | AMBRA1 | chr11 | 46563495 | - | ARHGAP1 | chr11 | 46717706 | - |
| 5CDS-5UTR | ENST00000528950 | ENST00000311956 | AMBRA1 | chr11 | 46563495 | - | ARHGAP1 | chr11 | 46717706 | - |
| intron-5UTR | ENST00000529963 | ENST00000311956 | AMBRA1 | chr11 | 46563495 | - | ARHGAP1 | chr11 | 46717706 | - |
| intron-3CDS | ENST00000298834 | ENST00000311956 | AMBRA1 | chr11 | 46615378 | - | ARHGAP1 | chr11 | 46703732 | - |
| intron-3CDS | ENST00000426438 | ENST00000311956 | AMBRA1 | chr11 | 46615378 | - | ARHGAP1 | chr11 | 46703732 | - |
| intron-3CDS | ENST00000314845 | ENST00000311956 | AMBRA1 | chr11 | 46615378 | - | ARHGAP1 | chr11 | 46703732 | - |
| 5UTR-3CDS | ENST00000533727 | ENST00000311956 | AMBRA1 | chr11 | 46615378 | - | ARHGAP1 | chr11 | 46703732 | - |
| 5UTR-3CDS | ENST00000534300 | ENST00000311956 | AMBRA1 | chr11 | 46615378 | - | ARHGAP1 | chr11 | 46703732 | - |
| intron-3CDS | ENST00000458649 | ENST00000311956 | AMBRA1 | chr11 | 46615378 | - | ARHGAP1 | chr11 | 46703732 | - |
| 5UTR-3CDS | ENST00000528950 | ENST00000311956 | AMBRA1 | chr11 | 46615378 | - | ARHGAP1 | chr11 | 46703732 | - |
| intron-3CDS | ENST00000529963 | ENST00000311956 | AMBRA1 | chr11 | 46615378 | - | ARHGAP1 | chr11 | 46703732 | - |
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FusionProtFeatures for AMBRA1_ARHGAP1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| AMBRA1 | ARHGAP1 |
| Regulates autophagy and development of the nervoussystem. Involved in autophagy in controlling protein turnoverduring neuronal development, and in regulating normal cellsurvival and proliferation (By similarity). {ECO:0000250}. | GTPase activator for the Rho, Rac and Cdc42 proteins,converting them to the putatively inactive GDP-bound state. Cdc42seems to be the preferred substrate. |
| 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 AMBRA1_ARHGAP1 |
| 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 AMBRA1_ARHGAP1 |
| 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 |
| AMBRA1 | USP50, DDB1, MAP1B, ATG3, ATG4B, DDA1, BECN1, PARK2, CUL4A, COPS5, ULK1, BCL2, ATG13, TRAF6, MTOR, RPTOR, UBE2D3, ASB8, RNF2, CUL4B, DYNLL1, DYNC1I1, PIK3C3, GABARAP, LRRC29, CISH, RFPL4B, F12, HPS1, CCDC132, TRIM10, LRRC42, TBC1D22A, CAMKMT, PRAMEF5, FBXW11, HSP90AA1, HSPA5, HSPA8, STIP1, CCT3, HSPD1, CCT8, CCT4, CCT2, TUBA1A, TUBB3, BAG5, DNAJB1, ACTN1, SUGT1, STUB1, BAG2, TCEB2, WDR1, GPS1, COPS8, PSMA1, PSMA2, PSMA3, PSMA4, PSMA5, PSMA6, PSMA7, PSMB2, PSMB3, PSMB5, PSMC1, PSMC2, PSMC3, PSMC4, PSMC5, PSMC6, PSMD2, PSMD3, PSMD6, PSMD8, PSMD10, PSMD12, PSMD13, UBL4A, UBC, CUL7, NES, IRGM, PPP2CA, PPP2R1A, MYC, DUSP4, SOCS3, WSB2, DCAF7, DYNLL2, TRIM25 | ARHGAP1 | RHOC, RHOA, BNIPL, ARHGAP1, BNIP2, CDC42, SRC, PIK3R1, RAC1, SOX2, CHEK2, EGFR, FBXO25, FOXR2, FSD1, AP1B1, CAPZA1, CCDC22, FTH1, IRF2BP1, LARS, NMD3, PFKP, PPAT, TCEB1, UBA1, GFPT1, RUVBL2, TCTN2, TMEM17, TMEM216, AGTRAP, XPO1, CDH1, PPM1H, CDK15, FGB, SETX, MTNR1B, TRIM25, TES |
| - 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 AMBRA1_ARHGAP1 |
| 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 AMBRA1_ARHGAP1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | AMBRA1 | C0036341 | Schizophrenia | 1 | PSYGENET |
| Tgene | ARHGAP1 | C0036341 | Schizophrenia | 1 | PSYGENET |
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