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Fusion gene ID: 37021 |
FusionGeneSummary for TAB2_KCNU1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: TAB2_KCNU1 | Fusion gene ID: 37021 | Hgene | Tgene | Gene symbol | TAB2 | KCNU1 | Gene ID | 23118 | 157855 |
| Gene name | TGF-beta activated kinase 1 (MAP3K7) binding protein 2 | potassium calcium-activated channel subfamily U member 1 | |
| Synonyms | CHTD2|MAP3K7IP2|TAB-2 | KCNMC1|KCa5|KCa5.1|Kcnma3|Slo3 | |
| Cytomap | 6q25.1 | 8p11.23 | |
| Type of gene | protein-coding | protein-coding | |
| Description | TGF-beta-activated kinase 1 and MAP3K7-binding protein 2TAK1-binding protein 2mitogen-activated protein kinase kinase kinase 7-interacting protein 2 | potassium channel subfamily U member 1Calcium-activated potassium channel subunit alpha-3Calcium-activated potassium channel, subfamily M subunit alpha-3Slowpoke homolog 3potassium channel, subfamily U, member 1 | |
| Modification date | 20180522 | 20180523 | |
| UniProtAcc | Q9NYJ8 | A8MYU2 | |
| Ensembl transtripts involved in fusion gene | ENST00000536230, ENST00000392282, ENST00000538427, ENST00000367456, ENST00000461481, ENST00000286332, | ENST00000399881, ENST00000518904, | |
| Fusion gene scores | * DoF score | 11 X 9 X 5=495 | 7 X 4 X 7=196 |
| # samples | 10 | 8 | |
| ** MAII score | log2(10/495*10)=-2.30742852519225 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(8/196*10)=-1.29278174922785 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: TAB2 [Title/Abstract] AND KCNU1 [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 | TAB2 | GO:0045860 | positive regulation of protein kinase activity | 11460167 |
| 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 | SARC | TCGA-DX-AB2O-01A | TAB2 | chr6 | 149663969 | + | KCNU1 | chr8 | 36721922 | + |
| * 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-3CDS | ENST00000536230 | ENST00000399881 | TAB2 | chr6 | 149663969 | + | KCNU1 | chr8 | 36721922 | + |
| intron-intron | ENST00000536230 | ENST00000518904 | TAB2 | chr6 | 149663969 | + | KCNU1 | chr8 | 36721922 | + |
| intron-3CDS | ENST00000392282 | ENST00000399881 | TAB2 | chr6 | 149663969 | + | KCNU1 | chr8 | 36721922 | + |
| intron-intron | ENST00000392282 | ENST00000518904 | TAB2 | chr6 | 149663969 | + | KCNU1 | chr8 | 36721922 | + |
| 5UTR-3CDS | ENST00000538427 | ENST00000399881 | TAB2 | chr6 | 149663969 | + | KCNU1 | chr8 | 36721922 | + |
| 5UTR-intron | ENST00000538427 | ENST00000518904 | TAB2 | chr6 | 149663969 | + | KCNU1 | chr8 | 36721922 | + |
| 5UTR-3CDS | ENST00000367456 | ENST00000399881 | TAB2 | chr6 | 149663969 | + | KCNU1 | chr8 | 36721922 | + |
| 5UTR-intron | ENST00000367456 | ENST00000518904 | TAB2 | chr6 | 149663969 | + | KCNU1 | chr8 | 36721922 | + |
| 3UTR-3CDS | ENST00000461481 | ENST00000399881 | TAB2 | chr6 | 149663969 | + | KCNU1 | chr8 | 36721922 | + |
| 3UTR-intron | ENST00000461481 | ENST00000518904 | TAB2 | chr6 | 149663969 | + | KCNU1 | chr8 | 36721922 | + |
| intron-3CDS | ENST00000286332 | ENST00000399881 | TAB2 | chr6 | 149663969 | + | KCNU1 | chr8 | 36721922 | + |
| intron-intron | ENST00000286332 | ENST00000518904 | TAB2 | chr6 | 149663969 | + | KCNU1 | chr8 | 36721922 | + |
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FusionProtFeatures for TAB2_KCNU1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| TAB2 | KCNU1 |
| Adapter linking MAP3K7/TAK1 and TRAF6. Promotes MAP3K7activation in the IL1 signaling pathway. The binding of 'Lys-63'-linked polyubiquitin chains to TAB2 promotes autophosphorylationof MAP3K7 at 'Thr-187'. Involved in heart development.{ECO:0000269|PubMed:10882101, ECO:0000269|PubMed:11460167,ECO:0000269|PubMed:20493459}. | Testis-specific potassium channel activated by bothintracellular pH and membrane voltage that mediates export ofK(+). May represent the primary spermatozoan K(+) current. Incontrast to KCNMA1/SLO1, it is not activated by Ca(2+) or Mg(2+).Critical for fertility. May play an important role in spermosmoregulation required for the acquisition of normal morphologyand motility when faced with osmotic challenges, such as thoseexperienced after mixing with seminal fluid and entry into thevagina. {ECO:0000269|PubMed:23129643}. |
| 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 TAB2_KCNU1 |
| 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 TAB2_KCNU1 |
| 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 |
| TAB2 | CS, TAB1, MAP3K7, TAB3, TAB2, TRAF6, NCOR1, HDAC3, HDAC1, HDAC5, TBL1X, NFKB1, TNFRSF11A, XIAP, TRAF2, NUMBL, RIPK1, IRAK1, TNF, UBC, RIPK2, PPP6C, TRAF3IP1, TIRAP, CHUK, BNIP3P6, TLR3, ERBB4, BECN1, ESR1, RBCK1, TANK, PDLIM7, NR2C2, IKBKG, SMAD7, EDARADD, MAP3K8, NLK, TRIM5, ATG5, ATG13, TGFBR1, AR, TBL1XR1, MBD3, SIN3A, APP, WDR34, BST2, MALT1, HSP90AA1, IKBKB, NPM1, TRIM22, ZBTB16, CST9L, TGM2, VIM, FN1, GTF2I, PPP2CB, YWHAZ, FOSL1, SLC19A3, SIK1, SIK3, TRIM38, UBE2I, PIAS3, RFPL4B, CARD8, C9orf41, CNTROB, XPO1, DBN1, ARRB2, LITAF, MCM2, RNF4, F2R, MAPK14, USP18, CTDSP1, EMILIN1, SCRN1, CCDC102B, MANSC1, IL17RC, CYLD, TNIK | KCNU1 |
| - 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 TAB2_KCNU1 |
| 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 TAB2_KCNU1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | TAB2 | C3554279 | CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 2 | 1 | UNIPROT |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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