|
||||||
|
 | |
| |
| |
| |
| |
|
Fusion gene ID: 1622 |
FusionGeneSummary for AMOTL1_PIWIL4 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: AMOTL1_PIWIL4 | Fusion gene ID: 1622 | Hgene | Tgene | Gene symbol | AMOTL1 | PIWIL4 | Gene ID | 154810 | 143689 |
| Gene name | angiomotin like 1 | piwi like RNA-mediated gene silencing 4 | |
| Synonyms | JEAP | HIWI2|MIWI2 | |
| Cytomap | 11q21 | 11q21 | |
| Type of gene | protein-coding | protein-coding | |
| Description | angiomotin-like protein 1junction-enriched and associated protein | piwi-like protein 4piwi-like 4testis tissue sperm-binding protein Li 85P | |
| Modification date | 20180523 | 20180519 | |
| UniProtAcc | Q8IY63 | Q7Z3Z4 | |
| Ensembl transtripts involved in fusion gene | ENST00000317829, ENST00000317837, ENST00000433060, ENST00000539727, | ENST00000299001, ENST00000537419, | |
| Fusion gene scores | * DoF score | 5 X 5 X 5=125 | 2 X 1 X 2=4 |
| # samples | 6 | 2 | |
| ** MAII score | log2(6/125*10)=-1.05889368905357 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(2/4*10)=2.32192809488736 | |
| Context | PubMed: AMOTL1 [Title/Abstract] AND PIWIL4 [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 |
| 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 | SARC | TCGA-KD-A5QS-01A | AMOTL1 | chr11 | 94501726 | + | PIWIL4 | chr11 | 94340605 | + |
| * 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 | ENST00000299001 | AMOTL1 | chr11 | 94501726 | + | PIWIL4 | chr11 | 94340605 | + |
| 5CDS-intron | ENST00000317829 | ENST00000537419 | AMOTL1 | chr11 | 94501726 | + | PIWIL4 | chr11 | 94340605 | + |
| Frame-shift | ENST00000317837 | ENST00000299001 | AMOTL1 | chr11 | 94501726 | + | PIWIL4 | chr11 | 94340605 | + |
| 5CDS-intron | ENST00000317837 | ENST00000537419 | AMOTL1 | chr11 | 94501726 | + | PIWIL4 | chr11 | 94340605 | + |
| Frame-shift | ENST00000433060 | ENST00000299001 | AMOTL1 | chr11 | 94501726 | + | PIWIL4 | chr11 | 94340605 | + |
| 5CDS-intron | ENST00000433060 | ENST00000537419 | AMOTL1 | chr11 | 94501726 | + | PIWIL4 | chr11 | 94340605 | + |
| intron-3CDS | ENST00000539727 | ENST00000299001 | AMOTL1 | chr11 | 94501726 | + | PIWIL4 | chr11 | 94340605 | + |
| intron-intron | ENST00000539727 | ENST00000537419 | AMOTL1 | chr11 | 94501726 | + | PIWIL4 | chr11 | 94340605 | + |
Top |
FusionProtFeatures for AMOTL1_PIWIL4 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| AMOTL1 | PIWIL4 |
| 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}. | Plays a central role during spermatogenesis byrepressing transposable elements and preventing theirmobilization, which is essential for the germline integrity (Bysimilarity). Acts via the piRNA metabolic process, which mediatesthe repression of transposable elements during meiosis by formingcomplexes composed of piRNAs and Piwi proteins and governs themethylation and subsequent repression of transposons (Bysimilarity). Directly binds piRNAs, a class of 24 to 30 nucleotideRNAs that are generated by a Dicer-independent mechanism and areprimarily derived from transposons and other repeated sequenceelements (By similarity). Associates with secondary piRNAsantisense and PIWIL2/MILI is required for such association (Bysimilarity). The piRNA process acts upstream of known mediators ofDNA methylation (By similarity). Does not show endonucleaseactivity (By similarity). Plays a key role in the piRNAamplification loop, also named ping-pong amplification cycle, byacting as a 'slicer-incompetent' component that loads cleavedpiRNAs from the 'slicer-competent' component PIWIL2 and targetthem on genomic transposon loci in the nucleus (By similarity).May be involved in the chromatin-modifying pathway by inducing'Lys-9' methylation of histone H3 at some loci (PubMed:17544373).{ECO:0000250|UniProtKB:Q8CGT6, ECO:0000269|PubMed:17544373}. |
| 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 |
Top |
FusionGeneSequence for AMOTL1_PIWIL4 |
| 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). |
Top |
FusionGenePPI for AMOTL1_PIWIL4 |
| 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 |
| AMOTL1 | AMOT, NEDD4L, LATS1, LATS2, YAP1, HECW2, NEDD4, WWOX, SHMT2, MOV10, NXF1, SUZ12, FHL3, MAGEA4, WWP2, TEAD4, RAB3IL1, WWTR1, RNF166, NF2, MPP5, CAPZA2, COG6, ALOX5, IFFO1, COBLL1, CDADC1, SCML1, HMBOX1, DDHD1, TLK2, UHRF1BP1L, WWC1, USP9X | PIWIL4 | DICER1, RELA |
| - 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 |
Top |
RelatedDrugs for AMOTL1_PIWIL4 |
| 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 |
Top |
RelatedDiseases for AMOTL1_PIWIL4 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | PIWIL4 | C0028960 | Oligospermia | 1 | CTD_human |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
|