|
||||||
|
 | |
| |
| |
| |
| |
|
Fusion gene ID: 8260 |
FusionGeneSummary for CPNE1_ASIP |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: CPNE1_ASIP | Fusion gene ID: 8260 | Hgene | Tgene | Gene symbol | CPNE1 | ASIP | Gene ID | 8904 | 56288 |
| Gene name | copine 1 | par-3 family cell polarity regulator | |
| Synonyms | COPN1|CPN1 | ASIP|Baz|PAR3|PAR3alpha|PARD-3|PARD3A|PPP1R118|SE2-5L16|SE2-5LT1|SE2-5T2 | |
| Cytomap | 20q11.22 | 10p11.22-p11.21 | |
| Type of gene | protein-coding | protein-coding | |
| Description | copine-1chromobindin 17copine I | partitioning defective 3 homologCTCL tumor antigen se2-5PAR3-alphaatypical PKC isotype-specific interacting proteinbazookapar-3 family cell polarity regulator alphapar-3 partitioning defective 3 homologprotein phosphatase 1, regulatory subunit 118 | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | Q99829 | P42127 | |
| Ensembl transtripts involved in fusion gene | ENST00000352393, ENST00000317677, ENST00000397445, ENST00000317619, ENST00000397443, ENST00000397446, ENST00000397442, ENST00000475146, | ENST00000568305, ENST00000374954, | |
| Fusion gene scores | * DoF score | 9 X 7 X 6=378 | 6 X 2 X 4=48 |
| # samples | 9 | 6 | |
| ** MAII score | log2(9/378*10)=-2.0703893278914 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(6/48*10)=0.321928094887362 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: CPNE1 [Title/Abstract] AND ASIP [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 | CPNE1 | GO:0043392 | negative regulation of DNA binding | 18212740 |
| Hgene | CPNE1 | GO:0045666 | positive regulation of neuron differentiation | 23263657 |
| Hgene | CPNE1 | GO:0051897 | positive regulation of protein kinase B signaling | 23263657 |
| Hgene | CPNE1 | GO:1990138 | neuron projection extension | 23263657 |
| 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 | BLCA | TCGA-G2-AA3B-01A | CPNE1 | chr20 | 34214143 | - | ASIP | chr20 | 32848173 | + |
| * 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-5UTR | ENST00000352393 | ENST00000568305 | CPNE1 | chr20 | 34214143 | - | ASIP | chr20 | 32848173 | + |
| intron-5UTR | ENST00000352393 | ENST00000374954 | CPNE1 | chr20 | 34214143 | - | ASIP | chr20 | 32848173 | + |
| intron-5UTR | ENST00000317677 | ENST00000568305 | CPNE1 | chr20 | 34214143 | - | ASIP | chr20 | 32848173 | + |
| intron-5UTR | ENST00000317677 | ENST00000374954 | CPNE1 | chr20 | 34214143 | - | ASIP | chr20 | 32848173 | + |
| intron-5UTR | ENST00000397445 | ENST00000568305 | CPNE1 | chr20 | 34214143 | - | ASIP | chr20 | 32848173 | + |
| intron-5UTR | ENST00000397445 | ENST00000374954 | CPNE1 | chr20 | 34214143 | - | ASIP | chr20 | 32848173 | + |
| intron-5UTR | ENST00000317619 | ENST00000568305 | CPNE1 | chr20 | 34214143 | - | ASIP | chr20 | 32848173 | + |
| intron-5UTR | ENST00000317619 | ENST00000374954 | CPNE1 | chr20 | 34214143 | - | ASIP | chr20 | 32848173 | + |
| intron-5UTR | ENST00000397443 | ENST00000568305 | CPNE1 | chr20 | 34214143 | - | ASIP | chr20 | 32848173 | + |
| intron-5UTR | ENST00000397443 | ENST00000374954 | CPNE1 | chr20 | 34214143 | - | ASIP | chr20 | 32848173 | + |
| intron-5UTR | ENST00000397446 | ENST00000568305 | CPNE1 | chr20 | 34214143 | - | ASIP | chr20 | 32848173 | + |
| intron-5UTR | ENST00000397446 | ENST00000374954 | CPNE1 | chr20 | 34214143 | - | ASIP | chr20 | 32848173 | + |
| intron-5UTR | ENST00000397442 | ENST00000568305 | CPNE1 | chr20 | 34214143 | - | ASIP | chr20 | 32848173 | + |
| intron-5UTR | ENST00000397442 | ENST00000374954 | CPNE1 | chr20 | 34214143 | - | ASIP | chr20 | 32848173 | + |
| intron-5UTR | ENST00000475146 | ENST00000568305 | CPNE1 | chr20 | 34214143 | - | ASIP | chr20 | 32848173 | + |
| intron-5UTR | ENST00000475146 | ENST00000374954 | CPNE1 | chr20 | 34214143 | - | ASIP | chr20 | 32848173 | + |
Top |
FusionProtFeatures for CPNE1_ASIP |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| CPNE1 | ASIP |
| 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}. | Involved in the regulation of melanogenesis. The bindingof ASP to MC1R precludes alpha-MSH initiated signaling and thusblocks production of cAMP, leading to a down-regulation ofeumelanogenesis (brown/black pigment) and thus increasingsynthesis of pheomelanin (yellow/red pigment). In higher primates,agouti may affect the quality of hair pigmentation rather than itspattern of deposition. Could well play a role in neuroendocrineaspects of melanocortin action. May have some functional role inregulating the lipid metabolism with adipocytes. |
| 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 |
Top |
FusionGeneSequence for CPNE1_ASIP |
| 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). |
Top |
FusionGenePPI for CPNE1_ASIP |
| 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 |
| CPNE1 | UIMC1, HNRNPH1, ARRB2, TIMM13, ST13, TTLL12, PYGB, LIG4, FN1, BAG3, STK3, BUB3, KLK5, CDA, SDHA, NTRK1, TRIM25 | ASIP |
| - 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 |
Top |
RelatedDrugs for CPNE1_ASIP |
| 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 |
| Hgene | CPNE1 | Q99829 | DB00277 | Theophylline | Copine-1 {ECO:0000305} | small molecule | approved |
Top |
RelatedDiseases for CPNE1_ASIP |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | ASIP | C0025202 | melanoma | 3 | CTD_human |
| Tgene | ASIP | C0007117 | Basal cell carcinoma | 1 | CTD_human |
| Tgene | ASIP | C0037286 | Skin Neoplasms | 1 | CTD_human |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
|