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Fusion gene ID: 33697 |
FusionGeneSummary for SH3RF3_PPP1R16B |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: SH3RF3_PPP1R16B | Fusion gene ID: 33697 | Hgene | Tgene | Gene symbol | SH3RF3 | PPP1R16B | Gene ID | 344558 | 26051 |
| Gene name | SH3 domain containing ring finger 3 | protein phosphatase 1 regulatory subunit 16B | |
| Synonyms | POSH2|SH3MD4 | ANKRD4|TIMAP | |
| Cytomap | 2q13 | 20q11.23 | |
| Type of gene | protein-coding | protein-coding | |
| Description | SH3 domain-containing RING finger protein 3SH3 multiple domains 4plenty of SH3s-2 | protein phosphatase 1 regulatory inhibitor subunit 16BCAAX box protein TIMAPTGF-beta-inhibited membrane-associated proteinankyrin repeat domain protein 4ankyrin repeat domain-containing protein 4hTIMAPprotein phosphatase 1, regulatory (inhibitor) su | |
| Modification date | 20180519 | 20180519 | |
| UniProtAcc | Q8TEJ3 | Q96T49 | |
| Ensembl transtripts involved in fusion gene | ENST00000309415, | ENST00000299824, ENST00000373331, ENST00000468265, | |
| Fusion gene scores | * DoF score | 2 X 2 X 1=4 | 1 X 1 X 1=1 |
| # samples | 2 | 1 | |
| ** MAII score | log2(2/4*10)=2.32192809488736 | log2(1/1*10)=3.32192809488736 | |
| Context | PubMed: SH3RF3 [Title/Abstract] AND PPP1R16B [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 | PPP1R16B | GO:0035307 | positive regulation of protein dephosphorylation | 16263087 |
| Tgene | PPP1R16B | GO:0035308 | negative regulation of protein dephosphorylation | 21466834 |
| 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 | DA407504 | SH3RF3 | chr2 | 109795464 | + | PPP1R16B | chr20 | 37547693 | + |
| * 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-3UTR | ENST00000309415 | ENST00000299824 | SH3RF3 | chr2 | 109795464 | + | PPP1R16B | chr20 | 37547693 | + |
| intron-3UTR | ENST00000309415 | ENST00000373331 | SH3RF3 | chr2 | 109795464 | + | PPP1R16B | chr20 | 37547693 | + |
| intron-intron | ENST00000309415 | ENST00000468265 | SH3RF3 | chr2 | 109795464 | + | PPP1R16B | chr20 | 37547693 | + |
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FusionProtFeatures for SH3RF3_PPP1R16B |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| SH3RF3 | PPP1R16B |
| Has E3 ubiquitin-protein ligase activity.{ECO:0000269|PubMed:20696164}. | Regulator of protein phosphatase 1 (PP1) that acts as apositive regulator of pulmonary endothelial cell (EC) barrierfunction (PubMed:18586956). Involved in the regulation of thePI3K/AKT signaling pathway, angiogenesis and endothelial cellproliferation (PubMed:25007873). Regulates angiogenesis andendothelial cell proliferation through the control of ECE1dephosphorylation, trafficking and activity (By similarity).Protects the endothelial barrier from lipopolysaccharide (LPS)-induced vascular leakage (By similarity). Involved in theregulation of endothelial cell filopodia extension (Bysimilarity). May be a downstream target for TGF-beta1 signalingcascade in endothelial cells (PubMed:16263087, PubMed:18586956).Involved in PKA-mediated moesin dephosphorylation which isimportant in EC barrier protection against thrombin stimulation(PubMed:18586956). Promotes the interaction of PPP1CA withRPSA/LAMR1 and in turn facilitates the dephosphorylation ofRPSA/LAMR1 (PubMed:16263087). Involved in the dephosphorylation ofEEF1A1 (PubMed:26497934). {ECO:0000250|UniProtKB:Q8VHQ3,ECO:0000250|UniProtKB:Q95N27, ECO:0000269|PubMed:16263087,ECO:0000269|PubMed:18586956, ECO:0000269|PubMed:25007873,ECO:0000269|PubMed:26497934}. |
| 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 SH3RF3_PPP1R16B |
| 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 SH3RF3_PPP1R16B |
| 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 SH3RF3_PPP1R16B |
| 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 SH3RF3_PPP1R16B |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | SH3RF3 | C0236733 | Amphetamine-Related Disorders | 1 | CTD_human |
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