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Fusion gene ID: 28393 |
FusionGeneSummary for PPP1R9B_FLNA |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: PPP1R9B_FLNA | Fusion gene ID: 28393 | Hgene | Tgene | Gene symbol | PPP1R9B | FLNA | Gene ID | 84687 | 2316 |
| Gene name | protein phosphatase 1 regulatory subunit 9B | filamin A | |
| Synonyms | PPP1R6|PPP1R9|SPINO|Spn | ABP-280|ABPX|CSBS|CVD1|FGS2|FLN|FLN-A|FLN1|FMD|MNS|NHBP|OPD|OPD1|OPD2|XLVD|XMVD | |
| Cytomap | 17q21.33 | Xq28 | |
| Type of gene | protein-coding | protein-coding | |
| Description | neurabin-2neurabin-IIprotein phosphatase 1, regulatory (inhibitor) subunit 9Bprotein phosphatase 1, regulatory subunit 9B, spinophilin | filamin-Aactin binding protein 280alpha-filaminendothelial actin-binding proteinfilamin A, alphafilamin-1non-muscle filamin | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | Q96SB3 | P21333 | |
| Ensembl transtripts involved in fusion gene | ENST00000316878, ENST00000501501, | ENST00000360319, ENST00000422373, ENST00000369850, ENST00000369856, ENST00000344736, ENST00000498491, | |
| Fusion gene scores | * DoF score | 2 X 2 X 2=8 | 13 X 18 X 3=702 |
| # samples | 2 | 19 | |
| ** MAII score | log2(2/8*10)=1.32192809488736 | log2(19/702*10)=-1.88547161197361 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: PPP1R9B [Title/Abstract] AND FLNA [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 |
| Hgene | PPP1R9B | GO:0030308 | negative regulation of cell growth | 11278317 |
| Tgene | FLNA | GO:0016479 | negative regulation of transcription by RNA polymerase I | 22307607 |
| Tgene | FLNA | GO:0030334 | regulation of cell migration | 16291724 |
| Tgene | FLNA | GO:0031532 | actin cytoskeleton reorganization | 10051605 |
| Tgene | FLNA | GO:0034394 | protein localization to cell surface | 18322202 |
| Tgene | FLNA | GO:0043113 | receptor clustering | 10692483 |
| Tgene | FLNA | GO:0043433 | negative regulation of DNA binding transcription factor activity | 15684392 |
| Tgene | FLNA | GO:0044319 | wound healing, spreading of cells | 16291724 |
| Tgene | FLNA | GO:0045184 | establishment of protein localization | 18322202 |
| Tgene | FLNA | GO:0051764 | actin crosslink formation | 10051605 |
| Tgene | FLNA | GO:0072659 | protein localization to plasma membrane | 24951510 |
| Tgene | FLNA | GO:0090307 | mitotic spindle assembly | 18548008 |
| Tgene | FLNA | GO:1901381 | positive regulation of potassium ion transmembrane transport | 24951510 |
| 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 | BF874102 | PPP1R9B | chr17 | 48218471 | + | FLNA | chrX | 153592716 | - |
| * 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-3CDS | ENST00000316878 | ENST00000360319 | PPP1R9B | chr17 | 48218471 | + | FLNA | chrX | 153592716 | - |
| intron-3CDS | ENST00000316878 | ENST00000422373 | PPP1R9B | chr17 | 48218471 | + | FLNA | chrX | 153592716 | - |
| intron-3CDS | ENST00000316878 | ENST00000369850 | PPP1R9B | chr17 | 48218471 | + | FLNA | chrX | 153592716 | - |
| intron-intron | ENST00000316878 | ENST00000369856 | PPP1R9B | chr17 | 48218471 | + | FLNA | chrX | 153592716 | - |
| intron-intron | ENST00000316878 | ENST00000344736 | PPP1R9B | chr17 | 48218471 | + | FLNA | chrX | 153592716 | - |
| intron-intron | ENST00000316878 | ENST00000498491 | PPP1R9B | chr17 | 48218471 | + | FLNA | chrX | 153592716 | - |
| intron-3CDS | ENST00000501501 | ENST00000360319 | PPP1R9B | chr17 | 48218471 | + | FLNA | chrX | 153592716 | - |
| intron-3CDS | ENST00000501501 | ENST00000422373 | PPP1R9B | chr17 | 48218471 | + | FLNA | chrX | 153592716 | - |
| intron-3CDS | ENST00000501501 | ENST00000369850 | PPP1R9B | chr17 | 48218471 | + | FLNA | chrX | 153592716 | - |
| intron-intron | ENST00000501501 | ENST00000369856 | PPP1R9B | chr17 | 48218471 | + | FLNA | chrX | 153592716 | - |
| intron-intron | ENST00000501501 | ENST00000344736 | PPP1R9B | chr17 | 48218471 | + | FLNA | chrX | 153592716 | - |
| intron-intron | ENST00000501501 | ENST00000498491 | PPP1R9B | chr17 | 48218471 | + | FLNA | chrX | 153592716 | - |
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FusionProtFeatures for PPP1R9B_FLNA |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| PPP1R9B | FLNA |
| Seems to act as a scaffold protein in multiple signalingpathways. Modulates excitatory synaptic transmission and dendriticspine morphology. Binds to actin filaments (F-actin) and showscross-linking activity. Binds along the sides of the F-actin. Mayplay an important role in linking the actin cytoskeleton to theplasma membrane at the synaptic junction. Believed to targetprotein phosphatase 1/PP1 to dendritic spines, which are rich inF-actin, and regulates its specificity toward ion channels andother substrates, such as AMPA-type and NMDA-type glutamatereceptors. Plays a role in regulation of G-protein coupledreceptor signaling, including dopamine D2 receptors and alpha-adrenergic receptors. May establish a signaling complex fordopaminergic neurotransmission through D2 receptors by linkingreceptors downstream signaling molecules and the actincytoskeleton. Binds to ADRA1B and RGS2 and mediates regulation ofADRA1B signaling. May confer to Rac signaling specificity bybinding to both, RacGEFs and Rac effector proteins. Probablyregulates p70 S6 kinase activity by forming a complex with TIAM1(By similarity). Required for hepatocyte growth factor (HGF)-induced cell migration. {ECO:0000250,ECO:0000269|PubMed:19151759}. | Promotes orthogonal branching of actin filaments andlinks actin filaments to membrane glycoproteins. Anchors varioustransmembrane proteins to the actin cytoskeleton and serves as ascaffold for a wide range of cytoplasmic signaling proteins.Interaction with FLNA may allow neuroblast migration from theventricular zone into the cortical plate. Tethers cell surface-localized furin, modulates its rate of internalization and directsits intracellular trafficking (By similarity). Involved inciliogenesis. Plays a role in cell-cell contacts and adherensjunctions during the development of blood vessels, heart and brainorgans. Plays a role in platelets morphology through interactionwith SYK that regulates ITAM- and ITAM-like-containing receptorsignaling, resulting in by platelet cytoskeleton organizationmaintenance (By similarity). {ECO:0000250,ECO:0000250|UniProtKB:Q8BTM8, ECO:0000269|PubMed:22121117}. |
| 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 PPP1R9B_FLNA |
| 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 PPP1R9B_FLNA |
| 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 PPP1R9B_FLNA |
| 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 |
| Tgene | FLNA | P21333 | DB11638 | Artenimol | Filamin-A | small molecule | approved|investigational |
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RelatedDiseases for PPP1R9B_FLNA |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | PPP1R9B | C0036341 | Schizophrenia | 2 | PSYGENET |
| Hgene | PPP1R9B | C0037199 | Sinusitis | 1 | CTD_human |
| Tgene | FLNA | C1848213 | Periventricular Heterotopia, X-Linked | 6 | UNIPROT |
| Tgene | FLNA | C0265251 | Oto-Palato-digital syndrome type 1 | 4 | CTD_human;ORPHANET;UNIPROT |
| Tgene | FLNA | C0265293 | Frontometaphyseal dysplasia | 4 | CTD_human;ORPHANET;UNIPROT |
| Tgene | FLNA | C1844696 | OTOPALATODIGITAL SYNDROME, TYPE II | 4 | CTD_human;ORPHANET;UNIPROT |
| Tgene | FLNA | C0025237 | Melnick-Needles Syndrome | 3 | ORPHANET;UNIPROT |
| Tgene | FLNA | C1868720 | Periventricular Nodular Heterotopia | 2 | CTD_human;ORPHANET |
| Tgene | FLNA | C0010701 | Phyllodes Tumor | 1 | CTD_human |
| Tgene | FLNA | C0014544 | Epilepsy | 1 | CTD_human;HPO |
| Tgene | FLNA | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
| Tgene | FLNA | C0029422 | Osteochondrodysplasias | 1 | CTD_human;HPO |
| Tgene | FLNA | C0220769 | FG syndrome | 1 | CTD_human |
| Tgene | FLNA | C0262436 | Cardiac valvular dysplasia, X-linked | 1 | CTD_human;UNIPROT |
| Tgene | FLNA | C1458155 | Mammary Neoplasms | 1 | CTD_human |
| Tgene | FLNA | C1845235 | Heterotopia, Periventricular, Ehlers-Danlos Variant | 1 | CTD_human |
| Tgene | FLNA | C1845902 | FG SYNDROME 2 | 1 | UNIPROT |
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