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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:ABHD12-GINS1 (FusionGDB2 ID:373) |
Fusion Gene Summary for ABHD12-GINS1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: ABHD12-GINS1 | Fusion gene ID: 373 | Hgene | Tgene | Gene symbol | ABHD12 | GINS1 | Gene ID | 26090 | 9837 |
| Gene name | abhydrolase domain containing 12, lysophospholipase | GINS complex subunit 1 | |
| Synonyms | ABHD12A|BEM46L2|C20orf22|PHARC|dJ965G21.2|hABHD12 | IMD55|PSF1 | |
| Cytomap | 20p11.21 | 20p11.21 | |
| Type of gene | protein-coding | protein-coding | |
| Description | lysophosphatidylserine lipase ABHD122-arachidonoylglycerol hydrolase2-arachidonoylglycerol hydrolase ABHD12abhydrolase domain containing 12abhydrolase domain-containing protein 12monoacylglycerol lipase ABHD12oxidized phosphatidylserine lipase ABHD1 | DNA replication complex GINS protein PSF1GINS complex subunit 1 (Psf1 homolog)partner of sld five-1 | |
| Modification date | 20200313 | 20200313 | |
| UniProtAcc | Q8N2K0 | Q14691 | |
| Ensembl transtripts involved in fusion gene | ENST00000339157, ENST00000376542, ENST00000481556, | ENST00000429262, ENST00000484893, ENST00000262460, | |
| Fusion gene scores | * DoF score | 11 X 8 X 6=528 | 5 X 7 X 4=140 |
| # samples | 13 | 6 | |
| ** MAII score | log2(13/528*10)=-2.02202630633 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(6/140*10)=-1.22239242133645 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: ABHD12 [Title/Abstract] AND GINS1 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Most frequent breakpoint | ABHD12(25371149)-GINS1(25422338), # 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 | ABHD12 | GO:0006660 | phosphatidylserine catabolic process | 30643283 |
| Hgene | ABHD12 | GO:0009395 | phospholipid catabolic process | 30237167 |
| Hgene | ABHD12 | GO:0046464 | acylglycerol catabolic process | 22969151 |
| Hgene | ABHD12 | GO:0046475 | glycerophospholipid catabolic process | 25290914 |
| Hgene | ABHD12 | GO:0052651 | monoacylglycerol catabolic process | 25290914|30237167 |
| Fusion gene breakpoints across ABHD12 (5'-gene) * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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| Fusion gene breakpoints across GINS1 (3'-gene) * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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| 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 |
| ChimerDB4 | COAD | TCGA-AA-3660-01A | ABHD12 | chr20 | 25371149 | - | GINS1 | chr20 | 25422338 | + |
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Fusion Gene ORF analysis for ABHD12-GINS1 |
| 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-3UTR | ENST00000339157 | ENST00000429262 | ABHD12 | chr20 | 25371149 | - | GINS1 | chr20 | 25422338 | + |
| 5CDS-3UTR | ENST00000376542 | ENST00000429262 | ABHD12 | chr20 | 25371149 | - | GINS1 | chr20 | 25422338 | + |
| 5CDS-intron | ENST00000339157 | ENST00000484893 | ABHD12 | chr20 | 25371149 | - | GINS1 | chr20 | 25422338 | + |
| 5CDS-intron | ENST00000376542 | ENST00000484893 | ABHD12 | chr20 | 25371149 | - | GINS1 | chr20 | 25422338 | + |
| In-frame | ENST00000339157 | ENST00000262460 | ABHD12 | chr20 | 25371149 | - | GINS1 | chr20 | 25422338 | + |
| In-frame | ENST00000376542 | ENST00000262460 | ABHD12 | chr20 | 25371149 | - | GINS1 | chr20 | 25422338 | + |
| intron-3CDS | ENST00000481556 | ENST00000262460 | ABHD12 | chr20 | 25371149 | - | GINS1 | chr20 | 25422338 | + |
| intron-3UTR | ENST00000481556 | ENST00000429262 | ABHD12 | chr20 | 25371149 | - | GINS1 | chr20 | 25422338 | + |
| intron-intron | ENST00000481556 | ENST00000484893 | ABHD12 | chr20 | 25371149 | - | GINS1 | chr20 | 25422338 | + |
| 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 ABHD12-GINS1 |
| 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) |
| ABHD12 | chr20 | 25371148 | - | GINS1 | chr20 | 25422337 | + | 3.71E-12 | 1 |
| ABHD12 | chr20 | 25371148 | - | GINS1 | chr20 | 25422337 | + | 3.71E-12 | 1 |
| 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. |
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| 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 ABHD12-GINS1 |
| Four levels of functional features of fusion genes Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr20:25371149/chr20:25422338) - 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. |
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| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| ABHD12 | GINS1 |
| FUNCTION: Lysophosphatidylserine (LPS) lipase that mediates the hydrolysis of lysophosphatidylserine, a class of signaling lipids that regulates immunological and neurological processes (PubMed:25290914, PubMed:30237167, PubMed:30420694, PubMed:30720278, PubMed:30643283). Represents a major lysophosphatidylserine lipase in the brain, thereby playing a key role in the central nervous system (By similarity). Also able to hydrolyze oxidized phosphatidylserine; oxidized phosphatidylserine is produced in response to severe inflammatory stress and constitutes a proapoptotic 'eat me' signal (PubMed:30643283). Also has monoacylglycerol (MAG) lipase activity: hydrolyzes 2-arachidonoylglycerol (2-AG), thereby acting as a regulator of endocannabinoid signaling pathways (PubMed:22969151, PubMed:24027063). Has a strong preference for very-long-chain lipid substrates; substrate specificity is likely due to improved catalysis and not improved substrate binding (PubMed:30237167). {ECO:0000250|UniProtKB:Q99LR1, ECO:0000269|PubMed:22969151, ECO:0000269|PubMed:24027063, ECO:0000269|PubMed:25290914, ECO:0000269|PubMed:30237167, ECO:0000269|PubMed:30420694, ECO:0000269|PubMed:30643283, ECO:0000269|PubMed:30720278}. | FUNCTION: Required for correct functioning of the GINS complex, a complex that plays an essential role in the initiation of DNA replication, and progression of DNA replication forks. GINS complex seems to bind preferentially to single-stranded DNA. {ECO:0000269|PubMed:17417653, ECO:0000269|PubMed:28414293}. |
| 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 |
| Hgene | ABHD12 | chr20:25371149 | chr20:25422338 | ENST00000339157 | - | 1 | 13 | 20_25 | 63 | 399.0 | Compositional bias | Note=Poly-Ser |
| Hgene | ABHD12 | chr20:25371149 | chr20:25422338 | ENST00000339157 | - | 1 | 13 | 26_29 | 63 | 399.0 | Compositional bias | Note=Poly-Ala |
| Hgene | ABHD12 | chr20:25371149 | chr20:25422338 | ENST00000376542 | - | 1 | 13 | 20_25 | 63 | 405.0 | Compositional bias | Note=Poly-Ser |
| Hgene | ABHD12 | chr20:25371149 | chr20:25422338 | ENST00000376542 | - | 1 | 13 | 26_29 | 63 | 405.0 | Compositional bias | Note=Poly-Ala |
| - 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 |
| Hgene | ABHD12 | chr20:25371149 | chr20:25422338 | ENST00000339157 | - | 1 | 13 | 1_74 | 63 | 399.0 | Topological domain | Cytoplasmic |
| Hgene | ABHD12 | chr20:25371149 | chr20:25422338 | ENST00000339157 | - | 1 | 13 | 96_398 | 63 | 399.0 | Topological domain | Extracellular |
| Hgene | ABHD12 | chr20:25371149 | chr20:25422338 | ENST00000376542 | - | 1 | 13 | 1_74 | 63 | 405.0 | Topological domain | Cytoplasmic |
| Hgene | ABHD12 | chr20:25371149 | chr20:25422338 | ENST00000376542 | - | 1 | 13 | 96_398 | 63 | 405.0 | Topological domain | Extracellular |
| Hgene | ABHD12 | chr20:25371149 | chr20:25422338 | ENST00000339157 | - | 1 | 13 | 75_95 | 63 | 399.0 | Transmembrane | Helical |
| Hgene | ABHD12 | chr20:25371149 | chr20:25422338 | ENST00000376542 | - | 1 | 13 | 75_95 | 63 | 405.0 | Transmembrane | Helical |
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Fusion Gene Sequence for ABHD12-GINS1 |
| 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 ABHD12-GINS1 |
| 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 ABHD12-GINS1 |
| 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 ABHD12-GINS1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
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