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Fusion Gene Summary | |
Fusion Gene ORF analysis | |
Fusion Genomic Features | |
Fusion Protein Features | |
Fusion Gene Sequence | |
Fusion Gene PPI analysis | |
Related Drugs | |
Related Diseases |
Fusion gene:APLF-LGMN (FusionGDB2 ID:5431) |
Fusion Gene Summary for APLF-LGMN |
Fusion gene summary |
Fusion gene information | Fusion gene name: APLF-LGMN | Fusion gene ID: 5431 | Hgene | Tgene | Gene symbol | APLF | LGMN | Gene ID | 200558 | 5641 |
Gene name | aprataxin and PNKP like factor | legumain | |
Synonyms | APFL|C2orf13|PALF|Xip1|ZCCHH1 | AEP|LGMN1|PRSC1 | |
Cytomap | 2p13.3 | 14q32.12 | |
Type of gene | protein-coding | protein-coding | |
Description | aprataxin and PNK-like factorPNK and APTX-like FHA domain-containing proteinPNK and APTX-like FHA proteinXRCC1-interacting protein 1aprataxin- and PNK-like factorapurinic-apyrimidinic endonuclease APLFzinc finger, CX5CX6HX5H motif containing 1 | legumainasparaginyl endopeptidasecysteine protease 1protease, cysteine 1protease, cysteine, 1 (legumain) | |
Modification date | 20200313 | 20200313 | |
UniProtAcc | Q8IW19 | Q99538 | |
Ensembl transtripts involved in fusion gene | ENST00000303795, ENST00000471727, | ENST00000334869, ENST00000393218, ENST00000555699, ENST00000557434, ENST00000557034, | |
Fusion gene scores | * DoF score | 2 X 2 X 2=8 | 9 X 8 X 4=288 |
# samples | 2 | 9 | |
** MAII score | log2(2/8*10)=1.32192809488736 | log2(9/288*10)=-1.67807190511264 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: APLF [Title/Abstract] AND LGMN [Title/Abstract] AND fusion [Title/Abstract] | ||
Most frequent breakpoint | APLF(68763188)-LGMN(93170555), # samples:1 | ||
Anticipated loss of major functional domain due to fusion event. |
* 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 | APLF | GO:0006974 | cellular response to DNA damage stimulus | 17396150 |
Tgene | LGMN | GO:0010447 | response to acidic pH | 18374643 |
Tgene | LGMN | GO:0035729 | cellular response to hepatocyte growth factor stimulus | 21237226 |
Tgene | LGMN | GO:0071277 | cellular response to calcium ion | 21237226 |
Tgene | LGMN | GO:0090026 | positive regulation of monocyte chemotaxis | 18377911 |
Tgene | LGMN | GO:0097202 | activation of cysteine-type endopeptidase activity | 9821970|18374643 |
Tgene | LGMN | GO:0097264 | self proteolysis | 9821970|18374643 |
Tgene | LGMN | GO:1904646 | cellular response to amyloid-beta | 25326800 |
Tgene | LGMN | GO:2001028 | positive regulation of endothelial cell chemotaxis | 18377911 |
Fusion gene breakpoints across APLF (5'-gene) * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
Fusion gene breakpoints across LGMN (3'-gene) * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0) * 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. |
Source | Disease | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
ChiTaRS5.0 | N/A | EC559453 | APLF | chr2 | 68763188 | + | LGMN | chr14 | 93170555 | + |
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Fusion Gene ORF analysis for APLF-LGMN |
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 |
intron-3UTR | ENST00000303795 | ENST00000334869 | APLF | chr2 | 68763188 | + | LGMN | chr14 | 93170555 | + |
intron-3UTR | ENST00000303795 | ENST00000393218 | APLF | chr2 | 68763188 | + | LGMN | chr14 | 93170555 | + |
intron-3UTR | ENST00000303795 | ENST00000555699 | APLF | chr2 | 68763188 | + | LGMN | chr14 | 93170555 | + |
intron-3UTR | ENST00000303795 | ENST00000557434 | APLF | chr2 | 68763188 | + | LGMN | chr14 | 93170555 | + |
intron-3UTR | ENST00000471727 | ENST00000334869 | APLF | chr2 | 68763188 | + | LGMN | chr14 | 93170555 | + |
intron-3UTR | ENST00000471727 | ENST00000393218 | APLF | chr2 | 68763188 | + | LGMN | chr14 | 93170555 | + |
intron-3UTR | ENST00000471727 | ENST00000555699 | APLF | chr2 | 68763188 | + | LGMN | chr14 | 93170555 | + |
intron-3UTR | ENST00000471727 | ENST00000557434 | APLF | chr2 | 68763188 | + | LGMN | chr14 | 93170555 | + |
intron-intron | ENST00000303795 | ENST00000557034 | APLF | chr2 | 68763188 | + | LGMN | chr14 | 93170555 | + |
intron-intron | ENST00000471727 | ENST00000557034 | APLF | chr2 | 68763188 | + | LGMN | chr14 | 93170555 | + |
ORFfinder result based on the fusion transcript sequence of in-frame fusion genes. |
Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | Seq length (transcript) | BP loci (transcript) | Predicted start (transcript) | Predicted stop (transcript) | Seq length (amino acids) |
DeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated. |
Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | No-coding score | Coding score |
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Fusion Genomic Features for APLF-LGMN |
FusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints. |
Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | 1-p | p (fusion gene breakpoint) |
Distribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page. |
Distribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page. |
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Fusion Protein Features for APLF-LGMN |
Four levels of functional features of fusion genes Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:68763188/:93170555) - FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels. - How to search 1. Put your fusion gene symbol. 2. Press the tab key until there will be shown the breakpoint information filled. 4. Go down and press 'Search' tab twice. 4. Go down to have the hyperlink of the search result. 5. Click the hyperlink. 6. See the FGviewer result for your fusion gene. |
Main function of each fusion partner protein. (from UniProt) |
Hgene | Tgene |
APLF | LGMN |
FUNCTION: Nuclease involved in single-strand and double-strand DNA break repair (PubMed:17353262, PubMed:17396150). Recruited to sites of DNA damage through interaction with poly(ADP-ribose), a polymeric post-translational modification synthesized transiently at sites of chromosomal damage to accelerate DNA strand break repair reactions (PubMed:17353262, PubMed:17396150, PubMed:21211721). Displays apurinic-apyrimidinic (AP) endonuclease and 3'-5' exonuclease activities in vitro. Also able to introduce nicks at hydroxyuracil and other types of pyrimidine base damage (PubMed:17353262, PubMed:17396150). Together with PARP3, promotes the retention of the LIG4-XRCC4 complex on chromatin and accelerate DNA ligation during non-homologous end-joining (NHEJ) (PubMed:21211721). {ECO:0000269|PubMed:17353262, ECO:0000269|PubMed:17396150, ECO:0000269|PubMed:21211721}. | FUNCTION: Has a strict specificity for hydrolysis of asparaginyl bonds. Can also cleave aspartyl bonds slowly, especially under acidic conditions. Required for normal lysosomal protein degradation in renal proximal tubules. Required for normal degradation of internalized EGFR. Plays a role in the regulation of cell proliferation via its role in EGFR degradation (By similarity). May be involved in the processing of proteins for MHC class II antigen presentation in the lysosomal/endosomal system. {ECO:0000250, ECO:0000269|PubMed:23776206}. |
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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Fusion Gene Sequence for APLF-LGMN |
For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones. |
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Fusion Gene PPI Analysis for APLF-LGMN |
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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Related Drugs for APLF-LGMN |
Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.8 2021-05-08) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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Related Diseases for APLF-LGMN |
Diseases associated with fusion partners. (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |