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Fusion gene ID: 3895 |
FusionGeneSummary for BBS7_PLA1A |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: BBS7_PLA1A | Fusion gene ID: 3895 | Hgene | Tgene | Gene symbol | BBS7 | PLA1A | Gene ID | 55212 | 51365 |
| Gene name | Bardet-Biedl syndrome 7 | phospholipase A1 member A | |
| Synonyms | BBS2L1 | PS-PLA1|PSPLA1 | |
| Cytomap | 4q27 | 3q13.33 | |
| Type of gene | protein-coding | protein-coding | |
| Description | Bardet-Biedl syndrome 7 proteinBBS2-like 1 | phospholipase A1 member Aphosphatidylserine-specific phospholipase A1alpha | |
| Modification date | 20180523 | 20180519 | |
| UniProtAcc | Q8IWZ6 | Q53H76 | |
| Ensembl transtripts involved in fusion gene | ENST00000264499, ENST00000506636, | ENST00000273371, ENST00000488919, ENST00000495992, ENST00000494440, | |
| Fusion gene scores | * DoF score | 1 X 1 X 1=1 | 3 X 3 X 2=18 |
| # samples | 1 | 3 | |
| ** MAII score | log2(1/1*10)=3.32192809488736 | log2(3/18*10)=0.736965594166206 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: BBS7 [Title/Abstract] AND PLA1A [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 |
| 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 |
| TCGA | LD | PRAD | TCGA-EJ-A65M-01A | BBS7 | chr4 | 122789136 | - | PLA1A | chr3 | 119327617 | + |
| * 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 |
| Frame-shift | ENST00000264499 | ENST00000273371 | BBS7 | chr4 | 122789136 | - | PLA1A | chr3 | 119327617 | + |
| 5CDS-5UTR | ENST00000264499 | ENST00000488919 | BBS7 | chr4 | 122789136 | - | PLA1A | chr3 | 119327617 | + |
| 5CDS-5UTR | ENST00000264499 | ENST00000495992 | BBS7 | chr4 | 122789136 | - | PLA1A | chr3 | 119327617 | + |
| 5CDS-5UTR | ENST00000264499 | ENST00000494440 | BBS7 | chr4 | 122789136 | - | PLA1A | chr3 | 119327617 | + |
| Frame-shift | ENST00000506636 | ENST00000273371 | BBS7 | chr4 | 122789136 | - | PLA1A | chr3 | 119327617 | + |
| 5CDS-5UTR | ENST00000506636 | ENST00000488919 | BBS7 | chr4 | 122789136 | - | PLA1A | chr3 | 119327617 | + |
| 5CDS-5UTR | ENST00000506636 | ENST00000495992 | BBS7 | chr4 | 122789136 | - | PLA1A | chr3 | 119327617 | + |
| 5CDS-5UTR | ENST00000506636 | ENST00000494440 | BBS7 | chr4 | 122789136 | - | PLA1A | chr3 | 119327617 | + |
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FusionProtFeatures for BBS7_PLA1A |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| BBS7 | PLA1A |
| The BBSome complex is thought to function as a coatcomplex required for sorting of specific membrane proteins to theprimary cilia. The BBSome complex is required for ciliogenesis butis dispensable for centriolar satellite function. This ciliogenicfunction 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 theciliary membrane. Firstly the BBSome associates with the ciliarymembrane and binds to RAB3IP/Rabin8, the guanosyl exchange factor(GEF) for Rab8 and then the Rab8-GTP localizes to the cilium andpromotes docking and fusion of carrier vesicles to the base of theciliary membrane. The BBSome complex, together with the LTZL1,controls SMO ciliary trafficking and contributes to the sonichedgehog (SHH) pathway regulation. Required for proper BBSomecomplex assembly and its ciliary localization.{ECO:0000269|PubMed:17574030, ECO:0000269|PubMed:22072986}. | Hydrolyzes the ester bond at the sn-1 position ofglycerophospholipids and produces 2-acyl lysophospholipids.Hydrolyzes phosphatidylserine (PS) in the form of liposomes and 1-acyl-2 lysophosphatidylserine (lyso-PS), but not triolein,phosphatidylcholine (PC), phosphatidylethanolamine (PE),phosphatidic acid (PA) or phosphatidylinositol (PI). Isoform 2hydrolyzes lyso-PS but not PS. Hydrolysis of lyso-PS in peritonealmast cells activated by receptors for IgE leads to stimulatehistamine production. {ECO:0000269|PubMed:10196188}. |
| 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 BBS7_PLA1A |
| 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 BBS7_PLA1A |
| 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 |
| BBS7 | ALDOB, KRT18, PAX2, FHOD1, JUN, CCDC8, SCGN, KLK5, LZTFL1, DSCC1, DDX39A, PLEKHO2, THBS3, MTMR6, BBS5, BBS9, BBS1, CNKSR3, BBS4, ZNF655, BBS10, CAMSAP3, BBS2, TTC8, MTO1, HIST1H1D, C5orf34, ALMS1, ZNF518A, MADD, RFWD3, NME3, PEAK1, INTS6, STIL, FAM83D, PMS1, RIPK4, BBS12, WIPI2, SMG8, CCDC88A, TRIM37, CEP164, PWP2, MIOS, USP54, FAM208A, GNL3L, WDR36, LRRC27, MARCH7, SIMC1, PER1, MYO1D, FBXL4, KANK2, TTC21A, CLUAP1 | PLA1A | APP, DNLZ |
| - 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 BBS7_PLA1A |
| 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 BBS7_PLA1A |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | BBS7 | C1859565 | BARDET-BIEDL SYNDROME 7 | 4 | UNIPROT |
| Hgene | BBS7 | C3714756 | Intellectual Disability | 1 | CTD_human;HPO |
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