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Fusion gene ID: 18369 |
FusionGeneSummary for KCTD21_RSF1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: KCTD21_RSF1 | Fusion gene ID: 18369 | Hgene | Tgene | Gene symbol | KCTD21 | RSF1 | Gene ID | 283219 | 51773 |
| Gene name | potassium channel tetramerization domain containing 21 | remodeling and spacing factor 1 | |
| Synonyms | KCASH2 | HBXAP|RSF-1|XAP8|p325 | |
| Cytomap | 11q14.1 | 11q14.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | BTB/POZ domain-containing protein KCTD21potassium channel tetramerisation domain containing 21potassium channel tetramerization domain-containing protein 21 | remodeling and spacing factor 1HBV pX-associated protein 8hepatitis B virus x-associated proteinp325 subunit of RSF chromatin-remodeling complex | |
| Modification date | 20180519 | 20180523 | |
| UniProtAcc | Q4G0X4 | Q96T23 | |
| Ensembl transtripts involved in fusion gene | ENST00000340067, | ENST00000308488, ENST00000360355, ENST00000480887, ENST00000530604, | |
| Fusion gene scores | * DoF score | 4 X 2 X 4=32 | 10 X 8 X 7=560 |
| # samples | 5 | 11 | |
| ** MAII score | log2(5/32*10)=0.643856189774725 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(11/560*10)=-2.34792330342031 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: KCTD21 [Title/Abstract] AND RSF1 [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 | KCTD21 | GO:0006511 | ubiquitin-dependent protein catabolic process | 21472142 |
| Hgene | KCTD21 | GO:0045879 | negative regulation of smoothened signaling pathway | 21472142 |
| Tgene | RSF1 | GO:0006334 | nucleosome assembly | 12972596 |
| Tgene | RSF1 | GO:0006338 | chromatin remodeling | 9836642 |
| Tgene | RSF1 | GO:0006352 | DNA-templated transcription, initiation | 9836642 |
| Tgene | RSF1 | GO:0016584 | nucleosome positioning | 9836642 |
| Tgene | RSF1 | GO:0043392 | negative regulation of DNA binding | 12972596 |
| Tgene | RSF1 | GO:0045892 | negative regulation of transcription, DNA-templated | 11944984 |
| Tgene | RSF1 | GO:0045893 | positive regulation of transcription, DNA-templated | 11788598 |
| Tgene | RSF1 | GO:0050434 | positive regulation of viral transcription | 11788598 |
| 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 | LD | SKCM | TCGA-EB-A82B-01A | KCTD21 | chr11 | 77899619 | - | RSF1 | chr11 | 77475734 | - |
| * 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 |
| 5UTR-3CDS | ENST00000340067 | ENST00000308488 | KCTD21 | chr11 | 77899619 | - | RSF1 | chr11 | 77475734 | - |
| 5UTR-3CDS | ENST00000340067 | ENST00000360355 | KCTD21 | chr11 | 77899619 | - | RSF1 | chr11 | 77475734 | - |
| 5UTR-intron | ENST00000340067 | ENST00000480887 | KCTD21 | chr11 | 77899619 | - | RSF1 | chr11 | 77475734 | - |
| 5UTR-intron | ENST00000340067 | ENST00000530604 | KCTD21 | chr11 | 77899619 | - | RSF1 | chr11 | 77475734 | - |
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FusionProtFeatures for KCTD21_RSF1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| KCTD21 | RSF1 |
| Probable substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complex mediating theubiquitination and subsequent proteasomal degradation of targetproteins. Promotes the ubiquitination of HDAC1. Can function asantagonist of the Hedgehog pathway by affecting the nucleartransfer of transcription factor GLI1; the function probablyoccurs via HDAC1 down-regulation, keeping GLI1 acetylated andinactive. Inhibits cell growth and tumorigenicity ofmedulloblastoma (MDB) (PubMed:21472142).{ECO:0000269|PubMed:21472142}. | Required for assembly of regular nucleosome arrays bythe RSF chromatin-remodeling complex (PubMed:12972596).Facilitates transcription of hepatitis B virus (HBV) genes by thepX transcription activator. In case of infection by HBV, togetherwith pX, it represses TNF-alpha induced NF-kappa-B transcriptionactivation. Represses transcription when artificially recruited tochromatin by fusion to a heterogeneous DNA binding domain(PubMed:11944984, PubMed:11788598). {ECO:0000269|PubMed:11788598,ECO:0000269|PubMed:11944984, ECO:0000269|PubMed:12972596}. |
| 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 KCTD21_RSF1 |
| 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 KCTD21_RSF1 |
| 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 |
| KCTD21 | CUL3, DNAJB11, DOC2A, KLHL14, MRGBP, WDFY1, LILRB3, TRIB2, DUSP22 | RSF1 | NFKB1, SMARCA5, CENPA, SIRT7, SP1, COPS6, CSNK2A1, HIST1H2BG, HIST1H3A, EWSR1, MARK2, ATXN3, KAT6A, MCM2 |
| - 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 KCTD21_RSF1 |
| 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 KCTD21_RSF1 |
| 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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