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Fusion gene ID: 1623 |
FusionGeneSummary for AMOTL1_PPIF |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: AMOTL1_PPIF | Fusion gene ID: 1623 | Hgene | Tgene | Gene symbol | AMOTL1 | PPIF | Gene ID | 154810 | 10105 |
| Gene name | angiomotin like 1 | peptidylprolyl isomerase F | |
| Synonyms | JEAP | CYP3|CyP-M|Cyp-D|CypD | |
| Cytomap | 11q21 | 10q22.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | angiomotin-like protein 1junction-enriched and associated protein | peptidyl-prolyl cis-trans isomerase F, mitochondrialPPIase Fcyclophilin 3cyclophilin Dcyclophilin Fmitochondrial cyclophilinpeptidyl-prolyl cis-trans isomerase, mitochondrialrotamase F | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | Q8IY63 | P30405 | |
| Ensembl transtripts involved in fusion gene | ENST00000317829, ENST00000317837, ENST00000433060, ENST00000539727, | ENST00000394579, ENST00000225174, ENST00000492149, | |
| Fusion gene scores | * DoF score | 5 X 5 X 5=125 | 1 X 1 X 1=1 |
| # samples | 6 | 1 | |
| ** MAII score | log2(6/125*10)=-1.05889368905357 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(1/1*10)=3.32192809488736 | |
| Context | PubMed: AMOTL1 [Title/Abstract] AND PPIF [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 | PPIF | GO:0000413 | protein peptidyl-prolyl isomerization | 20676357 |
| Tgene | PPIF | GO:0043066 | negative regulation of apoptotic process | 19228691 |
| Tgene | PPIF | GO:0090201 | negative regulation of release of cytochrome c from mitochondria | 19228691 |
| 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 | BF738681 | AMOTL1 | chr11 | 94533095 | - | PPIF | chr10 | 81111311 | - |
| * 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 | ENST00000317829 | ENST00000394579 | AMOTL1 | chr11 | 94533095 | - | PPIF | chr10 | 81111311 | - |
| Frame-shift | ENST00000317829 | ENST00000225174 | AMOTL1 | chr11 | 94533095 | - | PPIF | chr10 | 81111311 | - |
| 5CDS-intron | ENST00000317829 | ENST00000492149 | AMOTL1 | chr11 | 94533095 | - | PPIF | chr10 | 81111311 | - |
| Frame-shift | ENST00000317837 | ENST00000394579 | AMOTL1 | chr11 | 94533095 | - | PPIF | chr10 | 81111311 | - |
| Frame-shift | ENST00000317837 | ENST00000225174 | AMOTL1 | chr11 | 94533095 | - | PPIF | chr10 | 81111311 | - |
| 5CDS-intron | ENST00000317837 | ENST00000492149 | AMOTL1 | chr11 | 94533095 | - | PPIF | chr10 | 81111311 | - |
| Frame-shift | ENST00000433060 | ENST00000394579 | AMOTL1 | chr11 | 94533095 | - | PPIF | chr10 | 81111311 | - |
| Frame-shift | ENST00000433060 | ENST00000225174 | AMOTL1 | chr11 | 94533095 | - | PPIF | chr10 | 81111311 | - |
| 5CDS-intron | ENST00000433060 | ENST00000492149 | AMOTL1 | chr11 | 94533095 | - | PPIF | chr10 | 81111311 | - |
| intron-3CDS | ENST00000539727 | ENST00000394579 | AMOTL1 | chr11 | 94533095 | - | PPIF | chr10 | 81111311 | - |
| intron-3CDS | ENST00000539727 | ENST00000225174 | AMOTL1 | chr11 | 94533095 | - | PPIF | chr10 | 81111311 | - |
| intron-intron | ENST00000539727 | ENST00000492149 | AMOTL1 | chr11 | 94533095 | - | PPIF | chr10 | 81111311 | - |
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FusionProtFeatures for AMOTL1_PPIF |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| AMOTL1 | PPIF |
| Inhibits the Wnt/beta-catenin signaling pathway,probably by recruiting CTNNB1 to recycling endosomes and hencepreventing its translocation to the nucleus.{ECO:0000269|PubMed:22362771}. | PPIase that catalyzes the cis-trans isomerization ofproline imidic peptide bonds in oligopeptides and may thereforeassist protein folding (PubMed:20676357). Involved in regulationof the mitochondrial permeability transition pore (mPTP). It isproposed that its association with the mPTP is masking a bindingsite for inhibiting inorganic phosphate (Pi) and promotes the openprobability of the mPTP leading to apoptosis or necrosis; therequirement of the PPIase activity for this function is debated.In cooperation with mitochondrial TP53 is involved in activatingoxidative stress-induced necrosis. Involved in modulation ofmitochondrial membrane F(1)F(0) ATP synthase activity andregulation of mitochondrial matrix adenine nucleotide levels. Hasanti-apoptotic activity independently of mPTP and in cooperationwith BCL2 inhibits cytochrome c-dependent apoptosis.{ECO:0000269|PubMed:19228691, ECO:0000269|PubMed:20676357,ECO:0000269|PubMed:22726440, ECO:0000269|PubMed:26387735}. |
| 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 AMOTL1_PPIF |
| 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 AMOTL1_PPIF |
| 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 AMOTL1_PPIF |
| 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 | PPIF | P30405 | DB00091 | Cyclosporine | Peptidyl-prolyl cis-trans isomerase F, mitochondrial | small molecule | approved|investigational|vet_approved |
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RelatedDiseases for AMOTL1_PPIF |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | PPIF | C0021831 | Intestinal Diseases | 1 | CTD_human |
| Tgene | PPIF | C0041582 | Ulcer | 1 | CTD_human |
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