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Fusion gene ID: 15994 |
FusionGeneSummary for HDLBP_MAVS |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: HDLBP_MAVS | Fusion gene ID: 15994 | Hgene | Tgene | Gene symbol | HDLBP | MAVS | Gene ID | 3069 | 57506 |
| Gene name | high density lipoprotein binding protein | mitochondrial antiviral signaling protein | |
| Synonyms | HBP|PRO2900|VGL | CARDIF|IPS-1|IPS1|VISA | |
| Cytomap | 2q37.3 | 20p13 | |
| Type of gene | protein-coding | protein-coding | |
| Description | vigilinHDL-binding protein | mitochondrial antiviral-signaling proteinCARD adapter inducing interferon betaCARD adaptor inducing IFN-betaIFN-B promoter stimulator 1interferon beta promoter stimulator protein 1putative NF-kappa-B-activating protein 031Nvirus-induced signaling ad | |
| Modification date | 20180522 | 20180522 | |
| UniProtAcc | Q00341 | Q7Z434 | |
| Ensembl transtripts involved in fusion gene | ENST00000391976, ENST00000310931, ENST00000391975, ENST00000427183, ENST00000476807, | ENST00000416600, ENST00000428216, ENST00000358134, | |
| Fusion gene scores | * DoF score | 21 X 18 X 6=2268 | 4 X 4 X 2=32 |
| # samples | 23 | 4 | |
| ** MAII score | log2(23/2268*10)=-3.30171487399785 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(4/32*10)=0.321928094887362 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: HDLBP [Title/Abstract] AND MAVS [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 |
| Tgene | MAVS | GO:0001934 | positive regulation of protein phosphorylation | 16127453 |
| Tgene | MAVS | GO:0002230 | positive regulation of defense response to virus by host | 16127453 |
| Tgene | MAVS | GO:0032727 | positive regulation of interferon-alpha production | 16127453 |
| Tgene | MAVS | GO:0032728 | positive regulation of interferon-beta production | 16127453 |
| Tgene | MAVS | GO:0032757 | positive regulation of interleukin-8 production | 16127453 |
| Tgene | MAVS | GO:0032760 | positive regulation of tumor necrosis factor production | 16127453 |
| Tgene | MAVS | GO:0033160 | positive regulation of protein import into nucleus, translocation | 18818105 |
| Tgene | MAVS | GO:0045071 | negative regulation of viral genome replication | 20451243 |
| Tgene | MAVS | GO:0045944 | positive regulation of transcription by RNA polymerase II | 16127453|18818105 |
| Tgene | MAVS | GO:0051091 | positive regulation of DNA binding transcription factor activity | 16127453|18818105 |
| Tgene | MAVS | GO:0051607 | defense response to virus | 20451243 |
| Tgene | MAVS | GO:0060340 | positive regulation of type I interferon-mediated signaling pathway | 16127453|20451243 |
| Tgene | MAVS | GO:0071651 | positive regulation of chemokine (C-C motif) ligand 5 production | 16127453 |
| Tgene | MAVS | GO:0071660 | positive regulation of IP-10 production | 16127453 |
| 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 |
| ChiTaRS3.1 | BF928759 | HDLBP | chr2 | 242178992 | - | MAVS | chr20 | 3856375 | - |
| * 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 |
| intron-intron | ENST00000391976 | ENST00000416600 | HDLBP | chr2 | 242178992 | - | MAVS | chr20 | 3856375 | - |
| intron-intron | ENST00000391976 | ENST00000428216 | HDLBP | chr2 | 242178992 | - | MAVS | chr20 | 3856375 | - |
| intron-intron | ENST00000391976 | ENST00000358134 | HDLBP | chr2 | 242178992 | - | MAVS | chr20 | 3856375 | - |
| intron-intron | ENST00000310931 | ENST00000416600 | HDLBP | chr2 | 242178992 | - | MAVS | chr20 | 3856375 | - |
| intron-intron | ENST00000310931 | ENST00000428216 | HDLBP | chr2 | 242178992 | - | MAVS | chr20 | 3856375 | - |
| intron-intron | ENST00000310931 | ENST00000358134 | HDLBP | chr2 | 242178992 | - | MAVS | chr20 | 3856375 | - |
| intron-intron | ENST00000391975 | ENST00000416600 | HDLBP | chr2 | 242178992 | - | MAVS | chr20 | 3856375 | - |
| intron-intron | ENST00000391975 | ENST00000428216 | HDLBP | chr2 | 242178992 | - | MAVS | chr20 | 3856375 | - |
| intron-intron | ENST00000391975 | ENST00000358134 | HDLBP | chr2 | 242178992 | - | MAVS | chr20 | 3856375 | - |
| intron-intron | ENST00000427183 | ENST00000416600 | HDLBP | chr2 | 242178992 | - | MAVS | chr20 | 3856375 | - |
| intron-intron | ENST00000427183 | ENST00000428216 | HDLBP | chr2 | 242178992 | - | MAVS | chr20 | 3856375 | - |
| intron-intron | ENST00000427183 | ENST00000358134 | HDLBP | chr2 | 242178992 | - | MAVS | chr20 | 3856375 | - |
| intron-intron | ENST00000476807 | ENST00000416600 | HDLBP | chr2 | 242178992 | - | MAVS | chr20 | 3856375 | - |
| intron-intron | ENST00000476807 | ENST00000428216 | HDLBP | chr2 | 242178992 | - | MAVS | chr20 | 3856375 | - |
| intron-intron | ENST00000476807 | ENST00000358134 | HDLBP | chr2 | 242178992 | - | MAVS | chr20 | 3856375 | - |
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FusionProtFeatures for HDLBP_MAVS |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| HDLBP | MAVS |
| Appears to play a role in cell sterol metabolism. It mayfunction to protect cells from over-accumulation of cholesterol. |
| 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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FusionGeneSequence for HDLBP_MAVS |
| 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). |
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FusionGenePPI for HDLBP_MAVS |
| 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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RelatedDrugs for HDLBP_MAVS |
| 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 |
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RelatedDiseases for HDLBP_MAVS |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | HDLBP | C0004352 | Autistic Disorder | 1 | CTD_human |
| Hgene | HDLBP | C2931817 | Chromosome 2q37 deletion syndrome | 1 | CTD_human |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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