|
||||||
|
 | 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:BBS4-EBP (FusionGDB2 ID:HG585TG10682) |
Fusion Gene Summary for BBS4-EBP |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: BBS4-EBP | Fusion gene ID: hg585tg10682 | Hgene | Tgene | Gene symbol | BBS4 | EBP | Gene ID | 585 | 10682 |
| Gene name | Bardet-Biedl syndrome 4 | EBP cholestenol delta-isomerase | |
| Synonyms | - | CDPX2|CHO2|CPX|CPXD|MEND | |
| Cytomap | ('BBS4')('EBP') 15q24.1 | Xp11.23 | |
| Type of gene | protein-coding | protein-coding | |
| Description | Bardet-Biedl syndrome 4 protein | 3-beta-hydroxysteroid-Delta(8),Delta(7)-isomerase3-beta-hydroxysteroid-delta-8,delta-7-isomeraseChondrodysplasia punctata-2, X-linked dominant (Happle syndrome)D8-D7 sterol isomerasecholestenol Delta-isomerasedelta(8)-Delta(7) sterol isomeraseemopam | |
| Modification date | 20200313 | 20200313 | |
| UniProtAcc | Q96RK4 | Q15125 | |
| Ensembl transtripts involved in fusion gene | ENST00000268057, ENST00000395205, ENST00000539603, ENST00000542334, ENST00000564239, | ||
| Fusion gene scores | * DoF score | 5 X 6 X 3=90 | 2 X 2 X 2=8 |
| # samples | 5 | 2 | |
| ** MAII score | log2(5/90*10)=-0.84799690655495 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(2/8*10)=1.32192809488736 | |
| Context | PubMed: BBS4 [Title/Abstract] AND EBP [Title/Abstract] AND fusion [Title/Abstract] | ||
| Most frequent breakpoint | BBS4(73021537)-EBP(48387100), # 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 |
| Tgene | EBP | GO:0006695 | cholesterol biosynthetic process | 9894009 |
| 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 | BI494905 | BBS4 | chr15 | 73021537 | + | EBP | chrX | 48387100 | - |
Top |
Fusion Gene ORF analysis for BBS4-EBP |
| 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 | ENST00000268057 | ENST00000276096 | BBS4 | chr15 | 73021537 | + | EBP | chrX | 48387100 | - |
| intron-intron | ENST00000268057 | ENST00000495186 | BBS4 | chr15 | 73021537 | + | EBP | chrX | 48387100 | - |
| intron-intron | ENST00000395205 | ENST00000276096 | BBS4 | chr15 | 73021537 | + | EBP | chrX | 48387100 | - |
| intron-intron | ENST00000395205 | ENST00000495186 | BBS4 | chr15 | 73021537 | + | EBP | chrX | 48387100 | - |
| intron-intron | ENST00000539603 | ENST00000276096 | BBS4 | chr15 | 73021537 | + | EBP | chrX | 48387100 | - |
| intron-intron | ENST00000539603 | ENST00000495186 | BBS4 | chr15 | 73021537 | + | EBP | chrX | 48387100 | - |
| intron-intron | ENST00000542334 | ENST00000276096 | BBS4 | chr15 | 73021537 | + | EBP | chrX | 48387100 | - |
| intron-intron | ENST00000542334 | ENST00000495186 | BBS4 | chr15 | 73021537 | + | EBP | chrX | 48387100 | - |
| intron-intron | ENST00000564239 | ENST00000276096 | BBS4 | chr15 | 73021537 | + | EBP | chrX | 48387100 | - |
| intron-intron | ENST00000564239 | ENST00000495186 | BBS4 | chr15 | 73021537 | + | EBP | chrX | 48387100 | - |
| 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 |
Top |
Fusion Genomic Features for BBS4-EBP |
| 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) |
Top |
Fusion Protein Features for BBS4-EBP |
| Four levels of functional features of fusion genes Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:73021537/:48387100) - 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 |
| BBS4 | EBP |
| FUNCTION: The BBSome complex is thought to function as a coat complex required for sorting of specific membrane proteins to the primary cilia. The BBSome complex is required for ciliogenesis but is dispensable for centriolar satellite function. This ciliogenic function is mediated in part by the Rab8 GDP/GTP exchange factor, which localizes to the basal body and contacts the BBSome. Rab8(GTP) enters the primary cilium and promotes extension of the ciliary membrane. Firstly the BBSome associates with the ciliary membrane and binds to RAB3IP/Rabin8, the guanosyl exchange factor (GEF) for Rab8 and then the Rab8-GTP localizes to the cilium and promotes docking and fusion of carrier vesicles to the base of the ciliary membrane. The BBSome complex, together with the LTZL1, controls SMO ciliary trafficking and contributes to the sonic hedgehog (SHH) pathway regulation. Required for proper BBSome complex assembly and its ciliary localization. Required for microtubule anchoring at the centrosome but not for microtubule nucleation. May be required for the dynein-mediated transport of pericentriolar proteins to the centrosome. {ECO:0000269|PubMed:15107855, ECO:0000269|PubMed:17574030, ECO:0000269|PubMed:22072986}. | FUNCTION: Catalyzes the conversion of Delta(8)-sterols to their corresponding Delta(7)-isomers. {ECO:0000269|PubMed:12760743, ECO:0000269|PubMed:8798407, ECO:0000269|PubMed:9894009}. |
| 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 |
Top |
Fusion Gene Sequence for BBS4-EBP |
| 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. |
Top |
Fusion Gene PPI Analysis for BBS4-EBP |
| 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 |
Top |
Related Drugs for BBS4-EBP |
| 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 | EBP | Q15125 | DB00675 | Tamoxifen | Inhibitor | Small molecule | Approved |
Top |
Related Diseases for BBS4-EBP |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | BBS4 | C2936864 | Bardet-Biedl syndrome 4 (disorder) | 6 | CTD_human;GENOMICS_ENGLAND;UNIPROT |
| Tgene | C0282102 | Chondrodysplasia punctata, X-linked dominant type | 10 | CTD_human;GENOMICS_ENGLAND;UNIPROT | |
| Tgene | C4085243 | MEND SYNDROME | 5 | CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT | |
| Tgene | C0008445 | Chondrodysplasia Punctata | 1 | CTD_human | |
| Tgene | C0152427 | Polydactyly | 1 | GENOMICS_ENGLAND |
Copyright 2021-Present -The University of Texas Health Science Center at Houston (UTHealth)
Web File Viewing | Emergency Information |Campus Carry|Site Policies