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Fusion gene ID: 38139 |
FusionGeneSummary for TJP1_SLC20A1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: TJP1_SLC20A1 | Fusion gene ID: 38139 | Hgene | Tgene | Gene symbol | TJP1 | SLC20A1 | Gene ID | 7082 | 6574 |
| Gene name | tight junction protein 1 | solute carrier family 20 member 1 | |
| Synonyms | ZO-1 | GLVR1|Glvr-1|PIT1|PiT-1 | |
| Cytomap | 15q13.1 | 2q14.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | tight junction protein ZO-1zona occludens 1zonula occludens 1 protein | sodium-dependent phosphate transporter 1gibbon ape leukemia virus receptor 1leukemia virus receptor 1 homologsolute carrier family 20 (phosphate transporter), member 1 | |
| Modification date | 20180522 | 20180523 | |
| UniProtAcc | Q07157 | Q8WUM9 | |
| Ensembl transtripts involved in fusion gene | ENST00000346128, ENST00000400011, ENST00000356107, ENST00000545208, ENST00000495972, | ENST00000272542, ENST00000480984, | |
| Fusion gene scores | * DoF score | 5 X 6 X 3=90 | 6 X 6 X 3=108 |
| # samples | 6 | 6 | |
| ** MAII score | log2(6/90*10)=-0.584962500721156 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(6/108*10)=-0.84799690655495 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: TJP1 [Title/Abstract] AND SLC20A1 [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 | SKCM | TCGA-ER-A197-06A | TJP1 | chr15 | 30114205 | - | SLC20A1 | chr2 | 113405230 | + |
| * 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 | ENST00000346128 | ENST00000272542 | TJP1 | chr15 | 30114205 | - | SLC20A1 | chr2 | 113405230 | + |
| 5CDS-intron | ENST00000346128 | ENST00000480984 | TJP1 | chr15 | 30114205 | - | SLC20A1 | chr2 | 113405230 | + |
| intron-3CDS | ENST00000400011 | ENST00000272542 | TJP1 | chr15 | 30114205 | - | SLC20A1 | chr2 | 113405230 | + |
| intron-intron | ENST00000400011 | ENST00000480984 | TJP1 | chr15 | 30114205 | - | SLC20A1 | chr2 | 113405230 | + |
| Frame-shift | ENST00000356107 | ENST00000272542 | TJP1 | chr15 | 30114205 | - | SLC20A1 | chr2 | 113405230 | + |
| 5CDS-intron | ENST00000356107 | ENST00000480984 | TJP1 | chr15 | 30114205 | - | SLC20A1 | chr2 | 113405230 | + |
| Frame-shift | ENST00000545208 | ENST00000272542 | TJP1 | chr15 | 30114205 | - | SLC20A1 | chr2 | 113405230 | + |
| 5CDS-intron | ENST00000545208 | ENST00000480984 | TJP1 | chr15 | 30114205 | - | SLC20A1 | chr2 | 113405230 | + |
| Frame-shift | ENST00000495972 | ENST00000272542 | TJP1 | chr15 | 30114205 | - | SLC20A1 | chr2 | 113405230 | + |
| 5CDS-intron | ENST00000495972 | ENST00000480984 | TJP1 | chr15 | 30114205 | - | SLC20A1 | chr2 | 113405230 | + |
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FusionProtFeatures for TJP1_SLC20A1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| TJP1 | SLC20A1 |
| TJP1, TJP2, and TJP3 are closely related scaffoldingproteins that link tight junction (TJ) transmembrane proteins suchas claudins, junctional adhesion molecules, and occludin to theactin cytoskeleton (PubMed:7798316, PubMed:9792688). The tightjunction acts to limit movement of substances through theparacellular space and as a boundary between the compositionallydistinct apical and basolateral plasma membrane domains ofepithelial and endothelial cells. Necessary for lumenogenesis, andparticularly efficient epithelial polarization and barrierformation (By similarity). Plays a role in the regulation of cellmigration by targeting CDC42BPB to the leading edge of migratingcells (PubMed:21240187). Plays an important role in podosomeformation and associated function, thus regulating cell adhesionand matrix remodeling (PubMed:20930113). With TJP2 and TJP3,participates to the junctional retention and stability of thetranscription factor DBPA, but is not involved in its shuttling tothe nucleus (By similarity). {ECO:0000250|UniProtKB:O97758,ECO:0000269|PubMed:20930113, ECO:0000269|PubMed:21240187}. | Sodium-phosphate symporter which plays a fundamentalhousekeeping role in phosphate transport, such as absorbingphosphate from interstitial fluid for normal cellular functionssuch as cellular metabolism, signal transduction, and nucleic acidand lipid synthesis. May play a role in extracellular matrix andcartilage calcification as well as in vascular calcification.{ECO:0000269|PubMed:11009570, ECO:0000269|PubMed:7929240,ECO:0000269|PubMed:7966619, ECO:0000269|PubMed:8041748}. (Microbial infection) May function as a retroviralreceptor as it confers human cells susceptibility to infection toGibbon Ape Leukemia Virus (GaLV), Simian sarcoma-associated virus(SSAV) and Feline leukemia virus subgroup B (FeLV-B) as well as10A1 murine leukemia virus (10A1 MLV).{ECO:0000269|PubMed:12097582, ECO:0000269|PubMed:1309898,ECO:0000269|PubMed:2078500}. |
| 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 TJP1_SLC20A1 |
| 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 TJP1_SLC20A1 |
| 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 |
| TJP1 | F11R, JAM2, JAM3, KIRREL, PTPN14, GJA8, GJA3, EGFR, RAB8B, TJP2, TJP3, GJA1, CGN, OCLN, MLLT4, CLDN1, CLDN2, CLDN3, CLDN4, CLDN5, CLDN6, CLDN7, CLDN8, GJD3, HSP90AA1, RAE1, KBTBD7, YBX3, ACTN1, ACTN4, ACTB, ANXA6, KRT8, KRT10, KRT1, FLNA, TUBB, TUBB4A, TUBA1C, PLEC, SPTAN1, VIM, SSTR3, ELAVL1, SIRT7, KHDRBS1, PARD6A, PRKCI, PARD3, STRN, NDUFS6, RTN4, VAPA, ZPR1, VAPB, NDUFV2, NOTCH2, SCO2, SUGP1, DTNA, PAN2, LATS2, VMP1, RAPGEF2, CUL7, OBSL1, CCDC8, LUZP4, MAGIX, RNF166, IFI30, GRHPR, PIN1, THOC5, WDR3, NTRK1, IFI16, BTRC, B9D2, CEP104, CEP152, CEP128, CEP135, CNTRL, FBF1, NIN, ODF2, RPGRIP1L, SASS6, XPO1, MYO1C, PPP1CB, MYO19, CDH1, CDC14A, CTDSPL, CCDC102B, DEFA1, CRYBA4, UQCRB, SUN2, DLST, RNF168 | SLC20A1 | ELAVL1, RAPGEF1, BCL10, MAPK6, NXF1, CUL7, LIN7A, TMEM17, MPP6, MPP2, UGCG, FLVCR1, SLC20A2, ADCY9, MFAP3, LRP10, BMPR1A, SLC9A1, NDFIP1, TNFRSF10B, RNF149, ARL5B, MTX3, LIN7C, NOTCH3, TRIM25 |
| - 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 TJP1_SLC20A1 |
| 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 TJP1_SLC20A1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | SLC20A1 | C0014175 | Endometriosis | 1 | CTD_human |
| Tgene | SLC20A1 | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
| Tgene | SLC20A1 | C0428791 | Aortic valve calcification | 1 | CTD_human |
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