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Fusion gene ID: 6875 |
FusionGeneSummary for CERS6_TXNIP |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: CERS6_TXNIP | Fusion gene ID: 6875 | Hgene | Tgene | Gene symbol | CERS6 | TXNIP | Gene ID | 253782 | 10628 |
| Gene name | ceramide synthase 6 | thioredoxin interacting protein | |
| Synonyms | CERS5|LASS6 | ARRDC6|EST01027|HHCPA78|THIF|VDUP1 | |
| Cytomap | 2q24.3 | 1q21.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | ceramide synthase 6LAG1 homolog, ceramide synthase 6longevity assurance homolog 6 | thioredoxin-interacting proteinthioredoxin binding protein 2upregulated by 1,25-dihydroxyvitamin D-3vitamin D3 up-regulated protein 1 | |
| Modification date | 20180523 | 20180520 | |
| UniProtAcc | Q6ZMG9 | Q9H3M7 | |
| Ensembl transtripts involved in fusion gene | ENST00000305747, ENST00000392687, | ENST00000369317, ENST00000475171, | |
| Fusion gene scores | * DoF score | 6 X 5 X 3=90 | 3 X 4 X 1=12 |
| # samples | 6 | 4 | |
| ** MAII score | log2(6/90*10)=-0.584962500721156 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(4/12*10)=1.73696559416621 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: CERS6 [Title/Abstract] AND TXNIP [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 | TXNIP | GO:0030216 | keratinocyte differentiation | 14632196 |
| Tgene | TXNIP | GO:0051782 | negative regulation of cell division | 18541147 |
| Tgene | TXNIP | GO:0071228 | cellular response to tumor cell | 18541147 |
| 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 | AW601963 | CERS6 | chr2 | 169629012 | - | TXNIP | chr1 | 145440113 | + |
| * 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 |
| 3UTR-3CDS | ENST00000305747 | ENST00000369317 | CERS6 | chr2 | 169629012 | - | TXNIP | chr1 | 145440113 | + |
| 3UTR-intron | ENST00000305747 | ENST00000475171 | CERS6 | chr2 | 169629012 | - | TXNIP | chr1 | 145440113 | + |
| 3UTR-3CDS | ENST00000392687 | ENST00000369317 | CERS6 | chr2 | 169629012 | - | TXNIP | chr1 | 145440113 | + |
| 3UTR-intron | ENST00000392687 | ENST00000475171 | CERS6 | chr2 | 169629012 | - | TXNIP | chr1 | 145440113 | + |
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FusionProtFeatures for CERS6_TXNIP |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| CERS6 | TXNIP |
| May be involved in sphingolipid synthesis or itsregulation. {ECO:0000250}. | May act as an oxidative stress mediator by inhibitingthioredoxin activity or by limiting its bioavailability. Interactswith COPS5 and restores COPS5-induced suppression of CDKN1Bstability, blocking the COPS5-mediated translocation of CDKN1Bfrom the nucleus to the cytoplasm. Functions as a transcriptionalrepressor, possibly by acting as a bridge molecule betweentranscription factors and corepressor complexes, and over-expression will induce G0/G1 cell cycle arrest. Required for thematuration of natural killer cells. Acts as a suppressor of tumorcell growth. Inhibits the proteasomal degradation of DDIT4, andthereby contributes to the inhibition of the mammalian target ofrapamycin complex 1 (mTORC1). {ECO:0000269|PubMed:12821938,ECO:0000269|PubMed:17603038, ECO:0000269|PubMed:18541147,ECO:0000269|PubMed:21460850}. |
| 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 CERS6_TXNIP |
| 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 CERS6_TXNIP |
| 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 CERS6_TXNIP |
| 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 CERS6_TXNIP |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | CERS6 | C0236969 | Substance-Related Disorders | 1 | CTD_human |
| Tgene | TXNIP | C0003873 | Rheumatoid Arthritis | 1 | CTD_human |
| Tgene | TXNIP | C0011881 | Diabetic Nephropathy | 1 | CTD_human |
| Tgene | TXNIP | C0014175 | Endometriosis | 1 | CTD_human |
| Tgene | TXNIP | C0079744 | Diffuse Large B-Cell Lymphoma | 1 | CTD_human |
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