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Fusion gene ID: 5755 |
FusionGeneSummary for CCBE1_HIVEP3 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: CCBE1_HIVEP3 | Fusion gene ID: 5755 | Hgene | Tgene | Gene symbol | CCBE1 | HIVEP3 | Gene ID | 147372 | 59269 |
| Gene name | collagen and calcium binding EGF domains 1 | human immunodeficiency virus type I enhancer binding protein 3 | |
| Synonyms | HKLLS1 | KBP-1|KBP1|KRC|SHN3|Schnurri-3|ZAS3|ZNF40C | |
| Cytomap | 18q21.32 | 1p34.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | collagen and calcium-binding EGF domain-containing protein 1full of fluid protein homolog | transcription factor HIVEP3ZAS family, member 3kappa-B and V(D)J recombination signal sequences-binding proteinkappa-binding protein 1zinc finger protein ZAS3 | |
| Modification date | 20180519 | 20180523 | |
| UniProtAcc | Q6UXH8 | Q5T1R4 | |
| Ensembl transtripts involved in fusion gene | ENST00000439986, ENST00000398179, | ENST00000372583, ENST00000372584, ENST00000247584, ENST00000429157, ENST00000460604, | |
| Fusion gene scores | * DoF score | 2 X 2 X 2=8 | 12 X 9 X 8=864 |
| # samples | 2 | 13 | |
| ** MAII score | log2(2/8*10)=1.32192809488736 | log2(13/864*10)=-2.73251968913501 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: CCBE1 [Title/Abstract] AND HIVEP3 [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 | CCBE1 | GO:0010575 | positive regulation of vascular endothelial growth factor production | 24552833 |
| Hgene | CCBE1 | GO:0010954 | positive regulation of protein processing | 24552833 |
| Hgene | CCBE1 | GO:1900748 | positive regulation of vascular endothelial growth factor signaling pathway | 24552833 |
| Tgene | HIVEP3 | GO:0045893 | positive regulation of transcription, DNA-templated | 15790681 |
| 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 | BF812042 | CCBE1 | chr18 | 57102789 | - | HIVEP3 | chr1 | 42047740 | - |
| * 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 | ENST00000439986 | ENST00000372583 | CCBE1 | chr18 | 57102789 | - | HIVEP3 | chr1 | 42047740 | - |
| intron-3CDS | ENST00000439986 | ENST00000372584 | CCBE1 | chr18 | 57102789 | - | HIVEP3 | chr1 | 42047740 | - |
| intron-3CDS | ENST00000439986 | ENST00000247584 | CCBE1 | chr18 | 57102789 | - | HIVEP3 | chr1 | 42047740 | - |
| intron-3CDS | ENST00000439986 | ENST00000429157 | CCBE1 | chr18 | 57102789 | - | HIVEP3 | chr1 | 42047740 | - |
| intron-intron | ENST00000439986 | ENST00000460604 | CCBE1 | chr18 | 57102789 | - | HIVEP3 | chr1 | 42047740 | - |
| intron-3CDS | ENST00000398179 | ENST00000372583 | CCBE1 | chr18 | 57102789 | - | HIVEP3 | chr1 | 42047740 | - |
| intron-3CDS | ENST00000398179 | ENST00000372584 | CCBE1 | chr18 | 57102789 | - | HIVEP3 | chr1 | 42047740 | - |
| intron-3CDS | ENST00000398179 | ENST00000247584 | CCBE1 | chr18 | 57102789 | - | HIVEP3 | chr1 | 42047740 | - |
| intron-3CDS | ENST00000398179 | ENST00000429157 | CCBE1 | chr18 | 57102789 | - | HIVEP3 | chr1 | 42047740 | - |
| intron-intron | ENST00000398179 | ENST00000460604 | CCBE1 | chr18 | 57102789 | - | HIVEP3 | chr1 | 42047740 | - |
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FusionProtFeatures for CCBE1_HIVEP3 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| CCBE1 | HIVEP3 |
| Required for lymphangioblast budding and angiogenicsprouting from venous endothelium during embryogenesis.{ECO:0000269|PubMed:19935664}. | Plays a role of transcription factor; binds torecognition signal sequences (Rss heptamer) for somaticrecombination of immunoglobulin and T-cell receptor gene segments;Binds also to the kappa-B motif of gene such as S100A4, involvedin cell progression and differentiation. Kappa-B motif is a generegulatory element found in promoters and enhancers of genesinvolved in immunity, inflammation, and growth and that respondsto viral antigens, mitogens, and cytokines. Involvement of HIVEP3in cell growth is strengthened by the fact that its down-regulation promotes cell cycle progression with ultimate formationof multinucleated giant cells. Strongly inhibits TNF-alpha-inducedNF-kappa-B activation; Interferes with nuclear factor NF-kappa-Bby several mechanisms: as transcription factor, by competing forKappa-B motif and by repressing transcription in the nucleus;through a non transcriptional process, by inhibiting nucleartranslocation of RELA by association with TRAF2, an adaptermolecule in the tumor necrosis factor signaling, which blocks theformation of IKK complex. Interaction with TRAF proteins inhibitsboth NF-Kappa-B-mediated and c-Jun N-terminal kinase/JNK-mediatedresponses that include apoptosis and proinflammatory cytokine geneexpression. Positively regulates the expression of IL2 in T-cell.Essential regulator of adult bone formation.{ECO:0000269|PubMed:11161801}. |
| 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 CCBE1_HIVEP3 |
| 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 CCBE1_HIVEP3 |
| 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 CCBE1_HIVEP3 |
| 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 CCBE1_HIVEP3 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | CCBE1 | C0340834 | Hennekam lymphangiectasia lymphedema syndrome | 2 | CTD_human;ORPHANET |
| Hgene | CCBE1 | C4012050 | HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 1 | 2 | UNIPROT |
| Hgene | CCBE1 | C0020305 | Hydrops Fetalis | 1 | CTD_human |
| Hgene | CCBE1 | C0282631 | Facies | 1 | CTD_human |
| Hgene | CCBE1 | C3714756 | Intellectual Disability | 1 | CTD_human |
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