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Fusion gene ID: 1623 |
FusionGeneSummary for AMOTL1_PPIF |
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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) |
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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 |
![]() (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 |
![]() * 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 |
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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}. |
![]() * 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 |
![]() (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 |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for AMOTL1_PPIF |
![]() (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 |
![]() (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 |