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Fusion gene ID: 42441 |
FusionGeneSummary for YY1_TESPA1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: YY1_TESPA1 | Fusion gene ID: 42441 | Hgene | Tgene | Gene symbol | YY1 | TESPA1 | Gene ID | 7528 | 9840 |
| Gene name | YY1 transcription factor | thymocyte expressed, positive selection associated 1 | |
| Synonyms | DELTA|GADEVS|INO80S|NF-E1|UCRBP|YIN-YANG-1 | HSPC257|KIAA0748 | |
| Cytomap | 14q32.2 | 12q13.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | transcriptional repressor protein YY1INO80 complex subunit SYY-1Yin and Yang 1 proteindelta transcription factor | protein TESPA1thymocyte-expressed positive selection-associated protein 1 | |
| Modification date | 20180527 | 20180523 | |
| UniProtAcc | P25490 | A2RU30 | |
| Ensembl transtripts involved in fusion gene | ENST00000262238, | ENST00000524622, ENST00000532804, ENST00000449076, ENST00000316577, ENST00000531122, ENST00000524959, | |
| Fusion gene scores | * DoF score | 5 X 5 X 4=100 | 2 X 2 X 2=8 |
| # samples | 6 | 2 | |
| ** MAII score | log2(6/100*10)=-0.736965594166206 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(2/8*10)=1.32192809488736 | |
| Context | PubMed: YY1 [Title/Abstract] AND TESPA1 [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 | YY1 | GO:0000122 | negative regulation of transcription by RNA polymerase II | 9857059|16260628 |
| Hgene | YY1 | GO:0032688 | negative regulation of interferon-beta production | 16260628 |
| 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 | SARC | TCGA-DX-A2IZ-01A | YY1 | chr14 | 100706260 | + | TESPA1 | chr12 | 55344174 | - |
| * 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 |
| 5CDS-3UTR | ENST00000262238 | ENST00000524622 | YY1 | chr14 | 100706260 | + | TESPA1 | chr12 | 55344174 | - |
| 5CDS-3UTR | ENST00000262238 | ENST00000532804 | YY1 | chr14 | 100706260 | + | TESPA1 | chr12 | 55344174 | - |
| 5CDS-3UTR | ENST00000262238 | ENST00000449076 | YY1 | chr14 | 100706260 | + | TESPA1 | chr12 | 55344174 | - |
| 5CDS-3UTR | ENST00000262238 | ENST00000316577 | YY1 | chr14 | 100706260 | + | TESPA1 | chr12 | 55344174 | - |
| 5CDS-3UTR | ENST00000262238 | ENST00000531122 | YY1 | chr14 | 100706260 | + | TESPA1 | chr12 | 55344174 | - |
| 5CDS-intron | ENST00000262238 | ENST00000524959 | YY1 | chr14 | 100706260 | + | TESPA1 | chr12 | 55344174 | - |
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FusionProtFeatures for YY1_TESPA1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| YY1 | TESPA1 |
| Multifunctional transcription factor that exhibitspositive and negative control on a large number of cellular andviral genes by binding to sites overlapping the transcriptionstart site. Binds to the consensus sequence 5'-CCGCCATNTT-3'; somegenes have been shown to contain a longer binding motif allowingenhanced binding; the initial CG dinucleotide can be methylatedgreatly reducing the binding affinity. The effect on transcriptionregulation is depending upon the context in which it binds anddiverse mechanisms of action include direct activation orrepression, indirect activation or repression via cofactorrecruitment, or activation or repression by disruption of bindingsites or conformational DNA changes. Its activity is regulated bytranscription factors and cytoplasmic proteins that have beenshown to abrogate or completely inhibit YY1-mediated activation orrepression. For example, it acts as a repressor in absence ofadenovirus E1A protein but as an activator in its presence. Actssynergistically with the SMAD1 and SMAD4 in bone morphogeneticprotein (BMP)-mediated cardiac-specific gene expression(PubMed:15329343). Binds to SMAD binding elements (SBEs) (5'-GTCT/AGAC-3') within BMP response element (BMPRE) of cardiacactivating regions. May play an important role in development anddifferentiation. Proposed to recruit the PRC2/EED-EZH2 complex totarget genes that are transcriptional repressed. Involved in DNArepair. In vitro, binds to DNA recombination intermediatestructures (Holliday junctions). Plays a role in regulatingenhancer activation (PubMed:28575647).{ECO:0000269|PubMed:15329343, ECO:0000269|PubMed:24326773,ECO:0000269|PubMed:25787250, ECO:0000269|PubMed:28575647}. Proposed core component of the chromatin remodelingINO80 complex which is involved in transcriptional regulation, DNAreplication and probably DNA repair; proposed to target the INO80complex to YY1-responsive elements. {ECO:0000269|PubMed:17721549,ECO:0000269|PubMed:18026119}. | Required for the development and maturation of T-cells,its function being essential for the late stages of thymocytedevelopment (By similarity). Plays a role in T-cell antigenreceptor (TCR)-mediated activation of the ERK and NFAT signalingpathways, possibly by serving as a scaffolding protein thatpromotes the assembly of the LAT signalosome in thymocytes. Mayplay a role in the regulation of inositol 1,4,5-trisphosphatereceptor-mediated Ca(2+) release and mitochondrial Ca(2+) uptakevia the mitochondria-associated endoplasmic reticulum membrane(MAM) compartment. {ECO:0000250, ECO:0000269|PubMed:22561606}. |
| 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 YY1_TESPA1 |
| 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 YY1_TESPA1 |
| 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 |
| YY1 | FKBP1A, YAF2, MTA2, NOTCH1, SAP30, HDAC1, HDAC2, HDAC3, KAT2B, EP300, FKBP3, RYBP, SP1, SREBF1, MYC, ATF6, PPIA, CTCF, HDAC4, ATF2, ZNF232, HOXA11, MAX, CREBBP, HDAC5, TP53, MDM2, CDKN2A, SMAD4, SMAD1, SMAD2, SMAD3, PRMT1, ILF3, NPM1, TFAP2A, EZH2, INO80, TFCP2, PRKDC, ACTR8, HSPA4, ACTR5, ACTL6A, RUVBL1, RUVBL2, RELB, YY1, JUNB, JUND, RB1, NFE2L2, MECP2, TERF1, TERF2, INO80C, INO80E, NFRKB, TCF3, INO80B, UCHL5, INO80D, MCRS1, TFPT, HSPA5, BCL6, NEDD4, UHRF2, CREB1, ATF7, BAP1, HCFC1, NEDD4L, XRCC6, XRCC5, SMARCAD1, DDX5, DDX3X, SP3, PSMD9, SKP2, ELAVL1, EED, APP, ZNF830, NHP2L1, ZNF638, NCL, WDHD1, ZNF24, ARRB1, RING1, RNF2, PCGF2, LAMC2, GABPB1, GABPA, SLC39A7, CRKL, GRN, NFKB1, RAF1, TESK1, NR1H2, SPRY1, SHFM1, SMURF2, SUZ12, BMI1, TWIST1, PPP1R3B, TMEM150A, TRPV5, CEP164, BAX, FOXB1, FOXJ2, FOXL1, FOXN1, KMT2E, DNMT3L, AURKA, ID2, F9, TRIM25, AGO2 | TESPA1 | YWHAG, YWHAZ, BOK, ITPR2, ITPR3, ITPR1, SSFA2, KCMF1, VSIG8, YWHAE, YWHAB, YWHAH |
| - 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 YY1_TESPA1 |
| 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 YY1_TESPA1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | YY1 | C0007873 | Uterine Cervical Neoplasm | 1 | CTD_human |
| Hgene | YY1 | C0019693 | HIV Infections | 1 | CTD_human |
| Hgene | YY1 | C3714756 | Intellectual Disability | 1 | CTD_human |
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