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Fusion gene ID: 27875 |
FusionGeneSummary for POC1B_TNR |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: POC1B_TNR | Fusion gene ID: 27875 | Hgene | Tgene | Gene symbol | POC1B | TNR | Gene ID | 282809 | 7143 |
| Gene name | POC1 centriolar protein B | tenascin R | |
| Synonyms | CORD20|PIX1|TUWD12|WDR51B | TN-R | |
| Cytomap | 12q21.33 | 1q25.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | POC1 centriolar protein homolog BWD repeat-containing protein 51Bproteome of centriole protein 1B | tenascin-Rjanusinrestrictin | |
| Modification date | 20180519 | 20180519 | |
| UniProtAcc | Q8TC44 | Q92752 | |
| Ensembl transtripts involved in fusion gene | ENST00000393179, ENST00000313546, ENST00000549035, ENST00000541909, ENST00000549504, ENST00000378528, ENST00000546740, | ENST00000367674, ENST00000263525, | |
| Fusion gene scores | * DoF score | 3 X 3 X 3=27 | 4 X 3 X 3=36 |
| # samples | 3 | 4 | |
| ** MAII score | log2(3/27*10)=0.15200309344505 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(4/36*10)=0.15200309344505 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: POC1B [Title/Abstract] AND TNR [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 | RV | SARC | TCGA-SG-A6Z7-01A | POC1B | chr12 | 89885713 | - | TNR | chr1 | 175375913 | - |
| * 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 |
| 5CDS-5UTR | ENST00000393179 | ENST00000367674 | POC1B | chr12 | 89885713 | - | TNR | chr1 | 175375913 | - |
| 5CDS-5UTR | ENST00000393179 | ENST00000263525 | POC1B | chr12 | 89885713 | - | TNR | chr1 | 175375913 | - |
| 5CDS-5UTR | ENST00000313546 | ENST00000367674 | POC1B | chr12 | 89885713 | - | TNR | chr1 | 175375913 | - |
| 5CDS-5UTR | ENST00000313546 | ENST00000263525 | POC1B | chr12 | 89885713 | - | TNR | chr1 | 175375913 | - |
| 5CDS-5UTR | ENST00000549035 | ENST00000367674 | POC1B | chr12 | 89885713 | - | TNR | chr1 | 175375913 | - |
| 5CDS-5UTR | ENST00000549035 | ENST00000263525 | POC1B | chr12 | 89885713 | - | TNR | chr1 | 175375913 | - |
| 5CDS-5UTR | ENST00000541909 | ENST00000367674 | POC1B | chr12 | 89885713 | - | TNR | chr1 | 175375913 | - |
| 5CDS-5UTR | ENST00000541909 | ENST00000263525 | POC1B | chr12 | 89885713 | - | TNR | chr1 | 175375913 | - |
| 5CDS-5UTR | ENST00000549504 | ENST00000367674 | POC1B | chr12 | 89885713 | - | TNR | chr1 | 175375913 | - |
| 5CDS-5UTR | ENST00000549504 | ENST00000263525 | POC1B | chr12 | 89885713 | - | TNR | chr1 | 175375913 | - |
| 5CDS-5UTR | ENST00000378528 | ENST00000367674 | POC1B | chr12 | 89885713 | - | TNR | chr1 | 175375913 | - |
| 5CDS-5UTR | ENST00000378528 | ENST00000263525 | POC1B | chr12 | 89885713 | - | TNR | chr1 | 175375913 | - |
| intron-5UTR | ENST00000546740 | ENST00000367674 | POC1B | chr12 | 89885713 | - | TNR | chr1 | 175375913 | - |
| intron-5UTR | ENST00000546740 | ENST00000263525 | POC1B | chr12 | 89885713 | - | TNR | chr1 | 175375913 | - |
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FusionProtFeatures for POC1B_TNR |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| POC1B | TNR |
| Plays an important role in centriole assembly and/orstability and ciliogenesis (PubMed:20008567). Involved in earlysteps of centriole duplication, as well as in the later steps ofcentriole length control (PubMed:19109428). Acts in concert withPOC1A to ensure centriole integrity and proper mitotic spindleformation. Required for primary cilia formation, ciliary lengthand also cell proliferation (PubMed:23015594). Required forretinal integrity (PubMed:25044745). {ECO:0000269|PubMed:19109428,ECO:0000269|PubMed:20008567, ECO:0000269|PubMed:23015594,ECO:0000269|PubMed:25044745}. | Neural extracellular matrix (ECM) protein involved ininteractions with different cells and matrix components. Theseinteractions can influence cellular behavior by either evoking astable adhesion and differentiation, or repulsion and inhibitionof neurite growth. Binding to cell surface gangliosides inhibitsRGD-dependent integrin-mediated cell adhesion and results in aninhibition of PTK2/FAK1 (FAK) phosphorylation and cell detachment.Binding to membrane surface sulfatides results in aoligodendrocyte adhesion and differentiation. Interaction withCNTN1 induces a repulsion of neurons and an inhibition of neuriteoutgrowth. Interacts with SCN2B may play a crucial role inclustering and regulation of activity of sodium channels at nodesof Ranvier. TNR-linked chondroitin sulfate glycosaminoglycans areinvolved in the interaction with FN1 and mediate inhibition ofcell adhesion and neurite outgrowth. The highly regulated additionof sulfated carbohydrate structure may modulate the adhesiveproperties of TNR over the course of development and duringsynapse maintenance (By similarity). {ECO:0000250}. |
| 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 POC1B_TNR |
| 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 POC1B_TNR |
| 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 |
| POC1B | CUL4A, CUL4B, CUL3, FAM161A, POC1A, CORO1A, POC5, BAG2, CAD, CCT2, CDC37, CEP44, CLTC, KIAA1524, MIIP, NUDC, PELO, PFDN1, PFDN2, PFDN4, PFDN5, PFDN6, SRSF2, SUPT16H, TYMS, UNC45A, VBP1, HNRNPU, POC1B-GALNT4, ZNF598, SARM1, CCDC53, COG6, TACC1, SIL1, NELL2, WDR47, HSBP1, PIP4K2C, FBXO28, TPM2, BLOC1S4, CCT3, CCT4, EXOC7 | TNR | ACAN, PTPRZ1, NCAN, MAGEB4, PSMA1, NCK2, POLR3C, WDYHV1, LGALS14, CCDC146 |
| - 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 POC1B_TNR |
| 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 POC1B_TNR |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | POC1B | C4014856 | CONE-ROD DYSTROPHY 20 | 1 | UNIPROT |
| Tgene | TNR | C0000786 | Spontaneous abortion | 1 | CTD_human |
| Tgene | TNR | C0017639 | Gliosis | 1 | CTD_human |
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