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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:MB21D1-HAVCR2 (FusionGDB2 ID:51949) |
Fusion Gene Summary for MB21D1-HAVCR2 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: MB21D1-HAVCR2 | Fusion gene ID: 51949 | Hgene | Tgene | Gene symbol | MB21D1 | HAVCR2 | Gene ID | 115004 | 84868 |
| Gene name | cyclic GMP-AMP synthase | hepatitis A virus cellular receptor 2 | |
| Synonyms | C6orf150|MB21D1|h-cGAS | CD366|HAVcr-2|KIM-3|SPTCL|TIM3|TIMD-3|TIMD3|Tim-3 | |
| Cytomap | 6q13 | 5q33.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | cyclic GMP-AMP synthase2'3'-cGAMP synthaseMab-21 domain containing 1cGAMP synthasemab-21 domain-containing protein 1protein MB21D1 | hepatitis A virus cellular receptor 2T cell immunoglobulin mucin 3T-cell immunoglobulin and mucin domain-containing protein 3T-cell immunoglobulin mucin family member 3T-cell immunoglobulin mucin receptor 3T-cell membrane protein 3kidney injury mole | |
| Modification date | 20200329 | 20200313 | |
| UniProtAcc | . | Q8TDQ0 | |
| Ensembl transtripts involved in fusion gene | ENST00000370315, ENST00000370318, | ENST00000307851, ENST00000517358, ENST00000522593, | |
| Fusion gene scores | * DoF score | 4 X 4 X 2=32 | 1 X 1 X 1=1 |
| # samples | 4 | 1 | |
| ** MAII score | log2(4/32*10)=0.321928094887362 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(1/1*10)=3.32192809488736 | |
| Context | PubMed: MB21D1 [Title/Abstract] AND HAVCR2 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Most frequent breakpoint | MB21D1(74140932)-HAVCR2(156564218), # 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 | MB21D1 | GO:0002218 | activation of innate immune response | 23929945|24077100|26046437|28363908|30007416 |
| Hgene | MB21D1 | GO:0002230 | positive regulation of defense response to virus by host | 23929945|24077100|26046437 |
| Hgene | MB21D1 | GO:0006974 | cellular response to DNA damage stimulus | 28738408 |
| Hgene | MB21D1 | GO:0010753 | positive regulation of cGMP-mediated signaling | 23258413|24077100|28738408 |
| Hgene | MB21D1 | GO:0032481 | positive regulation of type I interferon production | 24077100|26046437|28363908|28738408 |
| Hgene | MB21D1 | GO:0038001 | paracrine signaling | 24077100 |
| Hgene | MB21D1 | GO:0043950 | positive regulation of cAMP-mediated signaling | 23258413|24077100|28738408|30007416 |
| Hgene | MB21D1 | GO:0051607 | defense response to virus | 21478870|23929945|24077100|26046437 |
| Hgene | MB21D1 | GO:0071360 | cellular response to exogenous dsRNA | 23258413|24077100|28214358|28363908 |
| Hgene | MB21D1 | GO:2000042 | negative regulation of double-strand break repair via homologous recombination | 30356214 |
| Tgene | HAVCR2 | GO:0032687 | negative regulation of interferon-alpha production | 26492563 |
| Tgene | HAVCR2 | GO:0032689 | negative regulation of interferon-gamma production | 26492563 |
| Tgene | HAVCR2 | GO:0032703 | negative regulation of interleukin-2 production | 26492563 |
| Tgene | HAVCR2 | GO:0032712 | negative regulation of interleukin-3 production | 26492563 |
| Tgene | HAVCR2 | GO:0060135 | maternal process involved in female pregnancy | 25578313 |
| Tgene | HAVCR2 | GO:0071656 | negative regulation of granulocyte colony-stimulating factor production | 26492563 |
| Tgene | HAVCR2 | GO:2001189 | negative regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell | 26492563 |
| Fusion gene breakpoints across MB21D1 (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 HAVCR2 (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 | BQ373681 | MB21D1 | chr6 | 74140932 | - | HAVCR2 | chr5 | 156564218 | + |
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Fusion Gene ORF analysis for MB21D1-HAVCR2 |
| 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-intron | ENST00000370315 | ENST00000307851 | MB21D1 | chr6 | 74140932 | - | HAVCR2 | chr5 | 156564218 | + |
| intron-intron | ENST00000370315 | ENST00000517358 | MB21D1 | chr6 | 74140932 | - | HAVCR2 | chr5 | 156564218 | + |
| intron-intron | ENST00000370315 | ENST00000522593 | MB21D1 | chr6 | 74140932 | - | HAVCR2 | chr5 | 156564218 | + |
| intron-intron | ENST00000370318 | ENST00000307851 | MB21D1 | chr6 | 74140932 | - | HAVCR2 | chr5 | 156564218 | + |
| intron-intron | ENST00000370318 | ENST00000517358 | MB21D1 | chr6 | 74140932 | - | HAVCR2 | chr5 | 156564218 | + |
| intron-intron | ENST00000370318 | ENST00000522593 | MB21D1 | chr6 | 74140932 | - | HAVCR2 | chr5 | 156564218 | + |
| 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 MB21D1-HAVCR2 |
| 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 MB21D1-HAVCR2 |
| Four levels of functional features of fusion genes Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:74140932/:156564218) - 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 |
| . | HAVCR2 |
| FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}. | FUNCTION: Cell surface receptor implicated in modulating innate and adaptive immune responses. Generally accepted to have an inhibiting function. Reports on stimulating functions suggest that the activity may be influenced by the cellular context and/or the respective ligand (PubMed:24825777). Regulates macrophage activation (PubMed:11823861). Inhibits T-helper type 1 lymphocyte (Th1)-mediated auto- and alloimmune responses and promotes immunological tolerance (PubMed:14556005). In CD8+ cells attenuates TCR-induced signaling, specifically by blocking NF-kappaB and NFAT promoter activities resulting in the loss of IL-2 secretion. The function may implicate its association with LCK proposed to impair phosphorylation of TCR subunits, and/or LGALS9-dependent recruitment of PTPRC to the immunological synapse (PubMed:24337741, PubMed:26492563). In contrast, shown to activate TCR-induced signaling in T-cells probably implicating ZAP70, LCP2, LCK and FYN (By similarity). Expressed on Treg cells can inhibit Th17 cell responses (PubMed:24838857). Receptor for LGALS9 (PubMed:16286920, PubMed:24337741). Binding to LGALS9 is believed to result in suppression of T-cell responses; the resulting apoptosis of antigen-specific cells may implicate HAVCR2 phosphorylation and disruption of its association with BAG6. Binding to LGALS9 is proposed to be involved in innate immune response to intracellular pathogens. Expressed on Th1 cells interacts with LGALS9 expressed on Mycobacterium tuberculosis-infected macrophages to stimulate antibactericidal activity including IL-1 beta secretion and to restrict intracellular bacterial growth (By similarity). However, the function as receptor for LGALS9 has been challenged (PubMed:23555261). Also reported to enhance CD8+ T-cell responses to an acute infection such as by Listeria monocytogenes (By similarity). Receptor for phosphatidylserine (PtSer); PtSer-binding is calcium-dependent. May recognize PtSer on apoptotic cells leading to their phagocytosis. Mediates the engulfment of apoptotic cells by dendritic cells. Expressed on T-cells, promotes conjugation but not engulfment of apoptotic cells. Expressed on dendritic cells (DCs) positively regulates innate immune response and in synergy with Toll-like receptors promotes secretion of TNF-alpha. In tumor-imfiltrating DCs suppresses nucleic acid-mediated innate immune repsonse by interaction with HMGB1 and interfering with nucleic acid-sensing and trafficking of nucleid acids to endosomes (By similarity). Expressed on natural killer (NK) cells acts as a coreceptor to enhance IFN-gamma production in response to LGALS9 (PubMed:22323453). In contrast, shown to suppress NK cell-mediated cytotoxicity (PubMed:22383801). Negatively regulates NK cell function in LPS-induced endotoxic shock (By similarity). {ECO:0000250|UniProtKB:Q8VIM0, ECO:0000269|PubMed:11823861, ECO:0000269|PubMed:14556005, ECO:0000269|PubMed:16286920, ECO:0000269|PubMed:22323453, ECO:0000269|PubMed:23555261, ECO:0000269|PubMed:24838857, ECO:0000269|PubMed:26492563, ECO:0000269|PubMed:30374066, ECO:0000305|PubMed:24825777}. |
| 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 MB21D1-HAVCR2 |
| 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 MB21D1-HAVCR2 |
| 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 MB21D1-HAVCR2 |
| 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 MB21D1-HAVCR2 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
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