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 | Fusion Gene Summary |
| Fusion Gene ORF analysis |
| Fusion Genomic Features |
| Fusion Protein Features |
| Fusion Gene Sequence |
| Fusion Gene PPI analysis |
| Related Drugs |
| Related Diseases |
Fusion gene:ERC1-YY1 (FusionGDB2 ID:HG23085TG7528) |
Fusion Gene Summary for ERC1-YY1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: ERC1-YY1 | Fusion gene ID: hg23085tg7528 | Hgene | Tgene | Gene symbol | ERC1 | YY1 | Gene ID | 23085 | 7528 |
| Gene name | ELKS/RAB6-interacting/CAST family member 1 | YY1 transcription factor | |
| Synonyms | Cast2|ELKS|ERC-1|RAB6IP2 | DELTA|GADEVS|INO80S|NF-E1|UCRBP|YIN-YANG-1 | |
| Cytomap | ('ERC1')('YY1') 12p13.33 | 14q32.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | ELKS/Rab6-interacting/CAST family member 1RAB6 interacting protein 2 | transcriptional repressor protein YY1INO80 complex subunit SYY-1Yin and Yang 1 proteindelta transcription factor | |
| Modification date | 20200313 | 20200313 | |
| UniProtAcc | Q8IUD2 | P25490 | |
| Ensembl transtripts involved in fusion gene | ENST00000536573, ENST00000355446, ENST00000360905, ENST00000397203, ENST00000543086, ENST00000546231, ENST00000589028, | ||
| Fusion gene scores | * DoF score | 32 X 23 X 16=11776 | 12 X 7 X 7=588 |
| # samples | 38 | 13 | |
| ** MAII score | log2(38/11776*10)=-4.95370634772607 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(13/588*10)=-2.17730453180791 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: ERC1 [Title/Abstract] AND YY1 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Most frequent breakpoint | ERC1(1219395)-YY1(100728802), # samples:1 | ||
| Anticipated loss of major functional domain due to fusion event. | |||
| * 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 | ERC1 | GO:0007252 | I-kappaB phosphorylation | 15218148 |
| Tgene | YY1 | GO:0000122 | negative regulation of transcription by RNA polymerase II | 9857059|16260628 |
| Tgene | YY1 | GO:0032688 | negative regulation of interferon-beta production | 16260628 |
| Fusion gene information * 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. |
| Source | Disease | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| ChimerDB4 | BRCA | TCGA-BH-A0HY-01A | ERC1 | chr12 | 1219395 | + | YY1 | chr14 | 100728802 | - |
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Fusion Gene ORF analysis for ERC1-YY1 |
| 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-intron | ENST00000536573 | ENST00000262238 | ERC1 | chr12 | 1219395 | + | YY1 | chr14 | 100728802 | - |
| 5CDS-intron | ENST00000355446 | ENST00000262238 | ERC1 | chr12 | 1219395 | + | YY1 | chr14 | 100728802 | - |
| 5CDS-intron | ENST00000360905 | ENST00000262238 | ERC1 | chr12 | 1219395 | + | YY1 | chr14 | 100728802 | - |
| 5CDS-intron | ENST00000397203 | ENST00000262238 | ERC1 | chr12 | 1219395 | + | YY1 | chr14 | 100728802 | - |
| 5CDS-intron | ENST00000543086 | ENST00000262238 | ERC1 | chr12 | 1219395 | + | YY1 | chr14 | 100728802 | - |
| 5CDS-intron | ENST00000546231 | ENST00000262238 | ERC1 | chr12 | 1219395 | + | YY1 | chr14 | 100728802 | - |
| 5CDS-intron | ENST00000589028 | ENST00000262238 | ERC1 | chr12 | 1219395 | + | YY1 | chr14 | 100728802 | - |
| ORFfinder result based on the fusion transcript sequence of in-frame fusion genes. |
| Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | Seq length (transcript) | BP loci (transcript) | Predicted start (transcript) | Predicted stop (transcript) | Seq length (amino acids) |
| DeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated. |
| Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | No-coding score | Coding score |
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Fusion Genomic Features for ERC1-YY1 |
| FusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints. |
| Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | 1-p | p (fusion gene breakpoint) |
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Fusion Protein Features for ERC1-YY1 |
| Four levels of functional features of fusion genes Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:1219395/:100728802) - FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels. - How to search 1. Put your fusion gene symbol. 2. Press the tab key until there will be shown the breakpoint information filled. 4. Go down and press 'Search' tab twice. 4. Go down to have the hyperlink of the search result. 5. Click the hyperlink. 6. See the FGviewer result for your fusion gene. |
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| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| ERC1 | YY1 |
| FUNCTION: Regulatory subunit of the IKK complex. Probably recruits IkappaBalpha/NFKBIA to the complex. May be involved in the organization of the cytomatrix at the nerve terminals active zone (CAZ) which regulates neurotransmitter release. May be involved in vesicle trafficking at the CAZ. May be involved in Rab-6 regulated endosomes to Golgi transport. {ECO:0000269|PubMed:15218148}. | FUNCTION: Multifunctional transcription factor that exhibits positive and negative control on a large number of cellular and viral genes by binding to sites overlapping the transcription start site. Binds to the consensus sequence 5'-CCGCCATNTT-3'; some genes have been shown to contain a longer binding motif allowing enhanced binding; the initial CG dinucleotide can be methylated greatly reducing the binding affinity. The effect on transcription regulation is depending upon the context in which it binds and diverse mechanisms of action include direct activation or repression, indirect activation or repression via cofactor recruitment, or activation or repression by disruption of binding sites or conformational DNA changes. Its activity is regulated by transcription factors and cytoplasmic proteins that have been shown to abrogate or completely inhibit YY1-mediated activation or repression. For example, it acts as a repressor in absence of adenovirus E1A protein but as an activator in its presence. Acts synergistically with the SMAD1 and SMAD4 in bone morphogenetic protein (BMP)-mediated cardiac-specific gene expression (PubMed:15329343). Binds to SMAD binding elements (SBEs) (5'-GTCT/AGAC-3') within BMP response element (BMPRE) of cardiac activating regions. May play an important role in development and differentiation. Proposed to recruit the PRC2/EED-EZH2 complex to target genes that are transcriptional repressed. Involved in DNA repair. In vitro, binds to DNA recombination intermediate structures (Holliday junctions). Plays a role in regulating enhancer activation (PubMed:28575647). {ECO:0000269|PubMed:15329343, ECO:0000269|PubMed:24326773, ECO:0000269|PubMed:25787250, ECO:0000269|PubMed:28575647}.; FUNCTION: Proposed core component of the chromatin remodeling INO80 complex which is involved in transcriptional regulation, DNA replication and probably DNA repair; proposed to target the INO80 complex to YY1-responsive elements. {ECO:0000269|PubMed:17721549, ECO:0000269|PubMed:18026119}. |
| 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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Fusion Gene Sequence for ERC1-YY1 |
| For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones. |
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Fusion Gene PPI Analysis for ERC1-YY1 |
| 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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Related Drugs for ERC1-YY1 |
| Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.8 2021-05-08) |
| Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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Related Diseases for ERC1-YY1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | ERC1 | C0238463 | Papillary thyroid carcinoma | 1 | ORPHANET |
| Hgene | ERC1 | C4749581 | Distal monosomy 12p | 1 | ORPHANET |
| Tgene | C4479652 | GABRIELE-DE VRIES SYNDROME | 2 | GENOMICS_ENGLAND;ORPHANET;UNIPROT | |
| Tgene | C0006826 | Malignant Neoplasms | 1 | CTD_human | |
| Tgene | C0007873 | Uterine Cervical Neoplasm | 1 | CTD_human | |
| Tgene | C0019693 | HIV Infections | 1 | CTD_human | |
| Tgene | C0020796 | Profound Mental Retardation | 1 | CTD_human | |
| Tgene | C0025363 | Mental Retardation, Psychosocial | 1 | CTD_human | |
| Tgene | C0027651 | Neoplasms | 1 | CTD_human | |
| Tgene | C0086692 | Benign Neoplasm | 1 | CTD_human | |
| Tgene | C0235874 | Disease Exacerbation | 1 | CTD_human | |
| Tgene | C0917816 | Mental deficiency | 1 | CTD_human | |
| Tgene | C3714756 | Intellectual Disability | 1 | CTD_human;GENOMICS_ENGLAND | |
| Tgene | C4048328 | cervical cancer | 1 | CTD_human | |
| Tgene | C4505456 | HIV Coinfection | 1 | CTD_human |
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