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Fusion gene ID: 14430 |
FusionGeneSummary for GATA6_TBL1Y |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: GATA6_TBL1Y | Fusion gene ID: 14430 | Hgene | Tgene | Gene symbol | GATA6 | TBL1Y | Gene ID | 2627 | 90665 |
| Gene name | GATA binding protein 6 | transducin beta like 1 Y-linked | |
| Synonyms | - | TBL1 | |
| Cytomap | 18q11.2 | Yp11.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | transcription factor GATA-6GATA-binding factor 6 | F-box-like/WD repeat-containing protein TBL1Ytransducin beta-like 1transducin beta-like protein 1Ytransducin-beta-like protein 1, Y-linked | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | Q92908 | Q9BQ87 | |
| Ensembl transtripts involved in fusion gene | ENST00000269216, ENST00000581694, | ENST00000355162, ENST00000346432, ENST00000383032, | |
| Fusion gene scores | * DoF score | 3 X 3 X 3=27 | 2 X 2 X 2=8 |
| # samples | 3 | 2 | |
| ** MAII score | log2(3/27*10)=0.15200309344505 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(2/8*10)=1.32192809488736 | |
| Context | PubMed: GATA6 [Title/Abstract] AND TBL1Y [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 | GATA6 | GO:0000122 | negative regulation of transcription by RNA polymerase II | 18177748 |
| Hgene | GATA6 | GO:0006366 | transcription by RNA polymerase II | 19666519 |
| Hgene | GATA6 | GO:0045766 | positive regulation of angiogenesis | 21127043 |
| Hgene | GATA6 | GO:0045892 | negative regulation of transcription, DNA-templated | 18177748 |
| Hgene | GATA6 | GO:0060575 | intestinal epithelial cell differentiation | 9566909 |
| Hgene | GATA6 | GO:0070848 | response to growth factor | 21127043 |
| Hgene | GATA6 | GO:0071158 | positive regulation of cell cycle arrest | 9593712 |
| Hgene | GATA6 | GO:0071456 | cellular response to hypoxia | 21127043 |
| Hgene | GATA6 | GO:0110024 | positive regulation of cardiac muscle myoblast proliferation | 25068583 |
| 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 | AW015488 | GATA6 | chr18 | 19756624 | - | TBL1Y | chrY | 6887815 | - |
| * 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-intron | ENST00000269216 | ENST00000355162 | GATA6 | chr18 | 19756624 | - | TBL1Y | chrY | 6887815 | - |
| intron-intron | ENST00000269216 | ENST00000346432 | GATA6 | chr18 | 19756624 | - | TBL1Y | chrY | 6887815 | - |
| intron-intron | ENST00000269216 | ENST00000383032 | GATA6 | chr18 | 19756624 | - | TBL1Y | chrY | 6887815 | - |
| intron-intron | ENST00000581694 | ENST00000355162 | GATA6 | chr18 | 19756624 | - | TBL1Y | chrY | 6887815 | - |
| intron-intron | ENST00000581694 | ENST00000346432 | GATA6 | chr18 | 19756624 | - | TBL1Y | chrY | 6887815 | - |
| intron-intron | ENST00000581694 | ENST00000383032 | GATA6 | chr18 | 19756624 | - | TBL1Y | chrY | 6887815 | - |
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FusionProtFeatures for GATA6_TBL1Y |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| GATA6 | TBL1Y |
| Transcriptional activator (PubMed:19666519,PubMed:27756709, PubMed:22750565, PubMed:22824924). RegulatesSEMA3C and PLXNA2 (PubMed:19666519). Involved in gene regulationspecifically in the gastric epithelium (PubMed:9315713). Mayregulate genes that protect epithelial cells from bacterialinfection (PubMed:16968778). Involved in bone morphogeneticprotein (BMP)-mediated cardiac-specific gene expression (Bysimilarity). Binds to BMP response element (BMPRE) DNA sequenceswithin cardiac activating regions (By similarity).{ECO:0000250|UniProtKB:Q61169, ECO:0000269|PubMed:16968778,ECO:0000269|PubMed:19666519, ECO:0000269|PubMed:22750565,ECO:0000269|PubMed:22824924, ECO:0000269|PubMed:27756709,ECO:0000269|PubMed:9315713}. | F-box-like protein involved in the recruitment of theubiquitin/19S proteasome complex to nuclear receptor-regulatedtranscription units. Plays an essential role in transcriptionactivation mediated by nuclear receptors. Probably acts asintegral component of corepressor complexes that mediates therecruitment of the 19S proteasome complex, leading to thesubsequent proteasomal degradation of transcription repressorcomplexes, thereby allowing cofactor exchange (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 GATA6_TBL1Y |
| 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 GATA6_TBL1Y |
| 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 GATA6_TBL1Y |
| 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 GATA6_TBL1Y |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | GATA6 | C0019284 | Diaphragmatic Hernia | 1 | CTD_human |
| Hgene | GATA6 | C0024121 | Lung Neoplasms | 1 | CTD_human |
| Hgene | GATA6 | C1857586 | CONOTRUNCAL HEART MALFORMATIONS (disorder) | 1 | UNIPROT |
| Hgene | GATA6 | C3280939 | ATRIOVENTRICULAR SEPTAL DEFECT 5 | 1 | UNIPROT |
| Hgene | GATA6 | C3280943 | ATRIAL SEPTAL DEFECT 9 | 1 | UNIPROT |
| Hgene | GATA6 | C4012454 | HEART DEFECTS, CONGENITAL, AND OTHER CONGENITAL ANOMALIES | 1 | UNIPROT |
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