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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:CD68-GM2A (FusionGDB2 ID:HG968TG2760) |
Fusion Gene Summary for CD68-GM2A |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: CD68-GM2A | Fusion gene ID: hg968tg2760 | Hgene | Tgene | Gene symbol | CD68 | GM2A | Gene ID | 968 | 2760 |
| Gene name | CD68 molecule | GM2 ganglioside activator | |
| Synonyms | GP110|LAMP4|SCARD1 | GM2-AP|SAP-3 | |
| Cytomap | ('CD68')('GM2A') 17p13.1 | 5q33.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | macrosialinCD68 antigenmacrophage antigen CD68scavenger receptor class D, member 1 | ganglioside GM2 activatorcerebroside sulfate activator proteinshingolipid activator protein 3sphingolipid activator protein 3 | |
| Modification date | 20200313 | 20200313 | |
| UniProtAcc | P34810 | P17900 | |
| Ensembl transtripts involved in fusion gene | ENST00000250092, ENST00000380498, | ||
| Fusion gene scores | * DoF score | 5 X 5 X 2=50 | 2 X 2 X 1=4 |
| # samples | 5 | 2 | |
| ** MAII score | log2(5/50*10)=0 | log2(2/4*10)=2.32192809488736 | |
| Context | PubMed: CD68 [Title/Abstract] AND GM2A [Title/Abstract] AND fusion [Title/Abstract] | ||
| Most frequent breakpoint | CD68(7483267)-GM2A(150648146), # 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 |
| Fusion gene information * 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 |
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Fusion Gene ORF analysis for CD68-GM2A |
| 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 |
| 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 CD68-GM2A |
| 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) |
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Fusion Protein Features for CD68-GM2A |
| Four levels of functional features of fusion genes Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:7483267/:150648146) - 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 |
| CD68 | GM2A |
| FUNCTION: Could play a role in phagocytic activities of tissue macrophages, both in intracellular lysosomal metabolism and extracellular cell-cell and cell-pathogen interactions. Binds to tissue- and organ-specific lectins or selectins, allowing homing of macrophage subsets to particular sites. Rapid recirculation of CD68 from endosomes and lysosomes to the plasma membrane may allow macrophages to crawl over selectin-bearing substrates or other cells. | FUNCTION: The large binding pocket can accommodate several single chain phospholipids and fatty acids, GM2A also exhibits some calcium-independent phospholipase activity (By similarity). Binds gangliosides and stimulates ganglioside GM2 degradation. It stimulates only the breakdown of ganglioside GM2 and glycolipid GA2 by beta-hexosaminidase A. It extracts single GM2 molecules from membranes and presents them in soluble form to beta-hexosaminidase A for cleavage of N-acetyl-D-galactosamine and conversion to GM3 (By similarity). Has cholesterol transfer activity (PubMed:17552909). {ECO:0000250|UniProtKB:Q60648, ECO:0000269|PubMed:17552909}. |
| 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 CD68-GM2A |
| 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 CD68-GM2A |
| 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 CD68-GM2A |
| 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 |
| Tgene | GM2A | P17900 | DB03017 | Lauric acid | Small molecule | Approved|Experimental |
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Related Diseases for CD68-GM2A |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | CD68 | C0000786 | Spontaneous abortion | 1 | CTD_human |
| Hgene | CD68 | C0000822 | Abortion, Tubal | 1 | CTD_human |
| Hgene | CD68 | C0002152 | Alloxan Diabetes | 1 | CTD_human |
| Hgene | CD68 | C0003872 | Arthritis, Psoriatic | 1 | CTD_human |
| Hgene | CD68 | C0005398 | Cholestasis, Extrahepatic | 1 | CTD_human |
| Hgene | CD68 | C0011853 | Diabetes Mellitus, Experimental | 1 | CTD_human |
| Hgene | CD68 | C0020459 | Hyperinsulinism | 1 | CTD_human |
| Hgene | CD68 | C0021655 | Insulin Resistance | 1 | CTD_human |
| Hgene | CD68 | C0022116 | Ischemia | 1 | CTD_human |
| Hgene | CD68 | C0022661 | Kidney Failure, Chronic | 1 | CTD_human |
| Hgene | CD68 | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
| Hgene | CD68 | C0028754 | Obesity | 1 | CTD_human |
| Hgene | CD68 | C0038433 | Streptozotocin Diabetes | 1 | CTD_human |
| Hgene | CD68 | C0920563 | Insulin Sensitivity | 1 | CTD_human |
| Hgene | CD68 | C1257963 | Endogenous Hyperinsulinism | 1 | CTD_human |
| Hgene | CD68 | C1257964 | Exogenous Hyperinsulinism | 1 | CTD_human |
| Hgene | CD68 | C1257965 | Compensatory Hyperinsulinemia | 1 | CTD_human |
| Hgene | CD68 | C1862939 | AMYOTROPHIC LATERAL SCLEROSIS 1 | 1 | CTD_human |
| Hgene | CD68 | C1862941 | Amyotrophic Lateral Sclerosis, Sporadic | 1 | CTD_human |
| Hgene | CD68 | C3830362 | Early Pregnancy Loss | 1 | CTD_human |
| Hgene | CD68 | C4551993 | Amyotrophic Lateral Sclerosis, Familial | 1 | CTD_human |
| Hgene | CD68 | C4552766 | Miscarriage | 1 | CTD_human |
| Tgene | C0268275 | Tay-Sachs Disease, AB Variant | 6 | CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT | |
| Tgene | C0036572 | Seizures | 1 | GENOMICS_ENGLAND | |
| Tgene | C0039373 | Tay-Sachs Disease | 1 | GENOMICS_ENGLAND |
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