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Fusion gene ID: 27251 |
FusionGeneSummary for PINX1_XKR6 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: PINX1_XKR6 | Fusion gene ID: 27251 | Hgene | Tgene | Gene symbol | PINX1 | XKR6 | Gene ID | 54984 | 286046 |
| Gene name | PIN2 (TERF1) interacting telomerase inhibitor 1 | XK related 6 | |
| Synonyms | Gno1|LPTL|LPTS|Pxr1 | C8orf21|C8orf5|C8orf7|XRG6 | |
| Cytomap | 8p23.1 | 8p23.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | PIN2/TERF1-interacting telomerase inhibitor 167-11-3 proteinPIN2-interacting protein 1TRF1-interacting protein 1hepatocellular carcinoma-related putative tumor suppressorliver-related putative tumor suppressorpin2-interacting protein X1protein 67-1 | XK-related protein 6Transmembrane protein C8orf5X Kell blood group precursor-related family, member 6X-linked Kx blood group related 6XK, Kell blood group complex subunit-related family, member 6 | |
| Modification date | 20180519 | 20180523 | |
| UniProtAcc | Q96BK5 | Q5GH73 | |
| Ensembl transtripts involved in fusion gene | ENST00000314787, ENST00000426190, ENST00000519088, ENST00000520018, | ENST00000416569, ENST00000304437, ENST00000297303, | |
| Fusion gene scores | * DoF score | 2 X 2 X 2=8 | 3 X 3 X 2=18 |
| # samples | 2 | 3 | |
| ** MAII score | log2(2/8*10)=1.32192809488736 | log2(3/18*10)=0.736965594166206 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: PINX1 [Title/Abstract] AND XKR6 [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 | PINX1 | GO:0007004 | telomere maintenance via telomerase | 11701125 |
| Hgene | PINX1 | GO:0010972 | negative regulation of G2/M transition of mitotic cell cycle | 11701125 |
| Hgene | PINX1 | GO:0032211 | negative regulation of telomere maintenance via telomerase | 11701125 |
| Hgene | PINX1 | GO:0051974 | negative regulation of telomerase activity | 11701125 |
| Hgene | PINX1 | GO:1902570 | protein localization to nucleolus | 24415760 |
| Hgene | PINX1 | GO:1904744 | positive regulation of telomeric DNA binding | 19265708|24415760 |
| Hgene | PINX1 | GO:1904751 | positive regulation of protein localization to nucleolus | 19265708 |
| 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 | LUSC | TCGA-68-A59I-01A | PINX1 | chr8 | 10677703 | - | XKR6 | chr8 | 11052730 | - |
| * 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-intron | ENST00000314787 | ENST00000416569 | PINX1 | chr8 | 10677703 | - | XKR6 | chr8 | 11052730 | - |
| 5CDS-intron | ENST00000314787 | ENST00000304437 | PINX1 | chr8 | 10677703 | - | XKR6 | chr8 | 11052730 | - |
| 5CDS-intron | ENST00000314787 | ENST00000297303 | PINX1 | chr8 | 10677703 | - | XKR6 | chr8 | 11052730 | - |
| intron-intron | ENST00000426190 | ENST00000416569 | PINX1 | chr8 | 10677703 | - | XKR6 | chr8 | 11052730 | - |
| intron-intron | ENST00000426190 | ENST00000304437 | PINX1 | chr8 | 10677703 | - | XKR6 | chr8 | 11052730 | - |
| intron-intron | ENST00000426190 | ENST00000297303 | PINX1 | chr8 | 10677703 | - | XKR6 | chr8 | 11052730 | - |
| intron-intron | ENST00000519088 | ENST00000416569 | PINX1 | chr8 | 10677703 | - | XKR6 | chr8 | 11052730 | - |
| intron-intron | ENST00000519088 | ENST00000304437 | PINX1 | chr8 | 10677703 | - | XKR6 | chr8 | 11052730 | - |
| intron-intron | ENST00000519088 | ENST00000297303 | PINX1 | chr8 | 10677703 | - | XKR6 | chr8 | 11052730 | - |
| intron-intron | ENST00000520018 | ENST00000416569 | PINX1 | chr8 | 10677703 | - | XKR6 | chr8 | 11052730 | - |
| intron-intron | ENST00000520018 | ENST00000304437 | PINX1 | chr8 | 10677703 | - | XKR6 | chr8 | 11052730 | - |
| intron-intron | ENST00000520018 | ENST00000297303 | PINX1 | chr8 | 10677703 | - | XKR6 | chr8 | 11052730 | - |
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FusionProtFeatures for PINX1_XKR6 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| PINX1 | XKR6 |
| Microtubule-binding protein essential for faithfulchromosome segregation. Mediates TRF1 and TERT accumulation innucleolus and enhances TRF1 binding to telomeres. Inhibitstelomerase activity. May inhibit cell proliferation and act astumor suppressor. {ECO:0000269|PubMed:15381700,ECO:0000269|PubMed:17198684, ECO:0000269|PubMed:19117989,ECO:0000269|PubMed:19265708, ECO:0000269|PubMed:19393617,ECO:0000269|PubMed:19553660}. |
| 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 PINX1_XKR6 |
| 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 PINX1_XKR6 |
| 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 |
| PINX1 | MCRS1, PLEKHJ1, PABPC1, TXN, RPS10, HRNR, RPL31, RPS3A, RPS19, RPL23A, GTPBP4, RPS28, CALM3, PABPC4, RPS16, AHCY, CAPRIN1, PAFAH1B2, TERF1, TERT, AIDA, DHX15, CACYBP, GABPA, TP63, EAF1, FBL, ALB, FXR1, FAM98A, PPP2R2D, APP, HIST1H2BG, HIST1H3A, HNRNPD, NOP56, SGTB, CDC14B, CCRN4L, SNRNP70, WDYHV1, DGCR8, RPL8, FOXA1 | XKR6 | ELAVL1 |
| - 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 PINX1_XKR6 |
| 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 PINX1_XKR6 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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