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Fusion gene ID: 12071 |
FusionGeneSummary for ESCO1_CPNE1 |
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Fusion gene information | Fusion gene name: ESCO1_CPNE1 | Fusion gene ID: 12071 | Hgene | Tgene | Gene symbol | ESCO1 | CPNE1 | Gene ID | 114799 | 8904 |
Gene name | establishment of sister chromatid cohesion N-acetyltransferase 1 | copine 1 | |
Synonyms | A930014I12Rik|CTF|ECO1|EFO1|ESO1 | COPN1|CPN1 | |
Cytomap | 18q11.2 | 20q11.22 | |
Type of gene | protein-coding | protein-coding | |
Description | N-acetyltransferase ESCO1CTF7 homolog 1ECO1 homolog 1EFO1pESO1 homolog 1N-acetyltransferase ESCO1 variant 2establishment factor-like protein 1establishment of cohesion 1 homolog 1hEFO1 | copine-1chromobindin 17copine I | |
Modification date | 20180523 | 20180523 | |
UniProtAcc | Q5FWF5 | Q99829 | |
Ensembl transtripts involved in fusion gene | ENST00000269214, ENST00000580101, | ENST00000352393, ENST00000317677, ENST00000397445, ENST00000317619, ENST00000397443, ENST00000397446, ENST00000397442, ENST00000475146, | |
Fusion gene scores | * DoF score | 10 X 5 X 7=350 | 3 X 2 X 3=18 |
# samples | 13 | 3 | |
** MAII score | log2(13/350*10)=-1.42884329880387 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(3/18*10)=0.736965594166206 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
Context | PubMed: ESCO1 [Title/Abstract] AND CPNE1 [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) |
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Partner | Gene | GO ID | GO term | PubMed ID |
Hgene | ESCO1 | GO:0018394 | peptidyl-lysine acetylation | 27112597 |
Tgene | CPNE1 | GO:0043392 | negative regulation of DNA binding | 18212740 |
Tgene | CPNE1 | GO:0045666 | positive regulation of neuron differentiation | 23263657 |
Tgene | CPNE1 | GO:0051897 | positive regulation of protein kinase B signaling | 23263657 |
Tgene | CPNE1 | GO:1990138 | neuron projection extension | 23263657 |
![]() (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 | BLCA | TCGA-G2-AA3B-01A | ESCO1 | chr18 | 19180584 | - | CPNE1 | chr20 | 34220845 | - |
* LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
![]() * 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 | ENST00000269214 | ENST00000352393 | ESCO1 | chr18 | 19180584 | - | CPNE1 | chr20 | 34220845 | - |
5UTR-3CDS | ENST00000269214 | ENST00000317677 | ESCO1 | chr18 | 19180584 | - | CPNE1 | chr20 | 34220845 | - |
5UTR-3CDS | ENST00000269214 | ENST00000397445 | ESCO1 | chr18 | 19180584 | - | CPNE1 | chr20 | 34220845 | - |
5UTR-3CDS | ENST00000269214 | ENST00000317619 | ESCO1 | chr18 | 19180584 | - | CPNE1 | chr20 | 34220845 | - |
5UTR-3CDS | ENST00000269214 | ENST00000397443 | ESCO1 | chr18 | 19180584 | - | CPNE1 | chr20 | 34220845 | - |
5UTR-3CDS | ENST00000269214 | ENST00000397446 | ESCO1 | chr18 | 19180584 | - | CPNE1 | chr20 | 34220845 | - |
5UTR-3CDS | ENST00000269214 | ENST00000397442 | ESCO1 | chr18 | 19180584 | - | CPNE1 | chr20 | 34220845 | - |
5UTR-intron | ENST00000269214 | ENST00000475146 | ESCO1 | chr18 | 19180584 | - | CPNE1 | chr20 | 34220845 | - |
5UTR-3CDS | ENST00000580101 | ENST00000352393 | ESCO1 | chr18 | 19180584 | - | CPNE1 | chr20 | 34220845 | - |
5UTR-3CDS | ENST00000580101 | ENST00000317677 | ESCO1 | chr18 | 19180584 | - | CPNE1 | chr20 | 34220845 | - |
5UTR-3CDS | ENST00000580101 | ENST00000397445 | ESCO1 | chr18 | 19180584 | - | CPNE1 | chr20 | 34220845 | - |
5UTR-3CDS | ENST00000580101 | ENST00000317619 | ESCO1 | chr18 | 19180584 | - | CPNE1 | chr20 | 34220845 | - |
5UTR-3CDS | ENST00000580101 | ENST00000397443 | ESCO1 | chr18 | 19180584 | - | CPNE1 | chr20 | 34220845 | - |
5UTR-3CDS | ENST00000580101 | ENST00000397446 | ESCO1 | chr18 | 19180584 | - | CPNE1 | chr20 | 34220845 | - |
5UTR-3CDS | ENST00000580101 | ENST00000397442 | ESCO1 | chr18 | 19180584 | - | CPNE1 | chr20 | 34220845 | - |
5UTR-intron | ENST00000580101 | ENST00000475146 | ESCO1 | chr18 | 19180584 | - | CPNE1 | chr20 | 34220845 | - |
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FusionProtFeatures for ESCO1_CPNE1 |
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Hgene | Tgene |
ESCO1 | CPNE1 |
Calcium-dependent phospholipid-binding protein thatplays a role in calcium-mediated intracellular processes(PubMed:14674885). Involved in the TNF-alpha receptor signalingpathway in a calcium-dependent manner (PubMed:14674885). Exhibitscalcium-dependent phospholipid binding properties (PubMed:9430674,PubMed:19539605). Plays a role in neuronal progenitor celldifferentiation; induces neurite outgrowth via a AKT-dependentsignaling cascade and calcium-independent manner (PubMed:23263657,PubMed:25450385). May recruit target proteins to the cell membranein a calcium-dependent manner (PubMed:12522145). May function inmembrane trafficking (PubMed:9430674). Involved in TNF-alpha-induced NF-kappa-B transcriptional repression by inducingendoprotease processing of the transcription factor NF-kappa-Bp65/RELA subunit (PubMed:18212740). Also induces endoproteaseprocessing of NF-kappa-B p50/NFKB1, p52/NFKB2, RELB and REL(PubMed:18212740). {ECO:0000269|PubMed:12522145,ECO:0000269|PubMed:14674885, ECO:0000269|PubMed:18212740,ECO:0000269|PubMed:19539605, ECO:0000269|PubMed:23263657,ECO:0000269|PubMed:25450385, ECO:0000269|PubMed:9430674}. |
![]() * 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 ESCO1_CPNE1 |
![]() (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 ESCO1_CPNE1 |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
ESCO1 | KDM1A, HDAC1, HDAC2, HIST1H3A, EHMT2, SUV39H1, SETDB1, HECW2, CDK1, FGFR1OP, CBX8, SMC6, TRIM25 | CPNE1 | UIMC1, HNRNPH1, ARRB2, TIMM13, ST13, TTLL12, PYGB, LIG4, FN1, BAG3, STK3, BUB3, KLK5, CDA, SDHA, NTRK1, TRIM25 |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for ESCO1_CPNE1 |
![]() (DrugBank Version 5.1.0 2018-04-02) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
Tgene | CPNE1 | Q99829 | DB00277 | Theophylline | Copine-1 {ECO:0000305} | small molecule | approved |
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RelatedDiseases for ESCO1_CPNE1 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |