|
||||||
|
 | |
| |
| |
| |
| |
|
Fusion gene ID: 5982 |
FusionGeneSummary for CCNC_ERVW-1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: CCNC_ERVW-1 | Fusion gene ID: 5982 | Hgene | Tgene | Gene symbol | CCNC | ERVW-1 | Gene ID | 892 | 30816 |
| Gene name | cyclin C | endogenous retrovirus group W member 1, envelope | |
| Synonyms | CycC|SRB11|hSRB11 | ENV|ENVW|ERVWE1|HERV-7q|HERV-W-ENV|HERV7Q|HERVW|HERVWENV | |
| Cytomap | 6q16.2 | 7q21.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | cyclin-CSRB11 homolog | syncytin-1HERV-7q envelope proteinHERV-W Env glycoproteinHERV-W envelope proteinHERV-W_7q21.2 provirus ancestral Env polyproteinHERV-tryptophan envelope proteinendogenous retroviral family W, env(C7), member 1endogenous retrovirus group W member 1 | |
| Modification date | 20180525 | 20180329 | |
| UniProtAcc | P24863 | Q9UQF0 | |
| Ensembl transtripts involved in fusion gene | ENST00000520429, ENST00000369220, ENST00000520371, ENST00000523799, ENST00000523985, ENST00000518714, ENST00000521017, ENST00000482541, | ENST00000604270, ENST00000603053, ENST00000493463, | |
| Fusion gene scores | * DoF score | 3 X 1 X 2=6 | 2 X 2 X 2=8 |
| # samples | 3 | 2 | |
| ** MAII score | log2(3/6*10)=2.32192809488736 | log2(2/8*10)=1.32192809488736 | |
| Context | PubMed: CCNC [Title/Abstract] AND ERVW-1 [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 |
| Tgene | ERVW-1 | GO:0000768 | syncytium formation by plasma membrane fusion | 14557543 |
| Tgene | ERVW-1 | GO:0006949 | syncytium formation | 23492904 |
| Tgene | ERVW-1 | GO:0045026 | plasma membrane fusion | 14557543 |
| 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-HB-A3YV-01A | CCNC | chr6 | 100016372 | - | ERVW-1 | chr7 | 92098259 | - |
| * 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-5UTR | ENST00000520429 | ENST00000604270 | CCNC | chr6 | 100016372 | - | ERVW-1 | chr7 | 92098259 | - |
| 5CDS-5UTR | ENST00000520429 | ENST00000603053 | CCNC | chr6 | 100016372 | - | ERVW-1 | chr7 | 92098259 | - |
| 5CDS-5UTR | ENST00000520429 | ENST00000493463 | CCNC | chr6 | 100016372 | - | ERVW-1 | chr7 | 92098259 | - |
| 5CDS-5UTR | ENST00000369220 | ENST00000604270 | CCNC | chr6 | 100016372 | - | ERVW-1 | chr7 | 92098259 | - |
| 5CDS-5UTR | ENST00000369220 | ENST00000603053 | CCNC | chr6 | 100016372 | - | ERVW-1 | chr7 | 92098259 | - |
| 5CDS-5UTR | ENST00000369220 | ENST00000493463 | CCNC | chr6 | 100016372 | - | ERVW-1 | chr7 | 92098259 | - |
| 5CDS-5UTR | ENST00000520371 | ENST00000604270 | CCNC | chr6 | 100016372 | - | ERVW-1 | chr7 | 92098259 | - |
| 5CDS-5UTR | ENST00000520371 | ENST00000603053 | CCNC | chr6 | 100016372 | - | ERVW-1 | chr7 | 92098259 | - |
| 5CDS-5UTR | ENST00000520371 | ENST00000493463 | CCNC | chr6 | 100016372 | - | ERVW-1 | chr7 | 92098259 | - |
| intron-5UTR | ENST00000523799 | ENST00000604270 | CCNC | chr6 | 100016372 | - | ERVW-1 | chr7 | 92098259 | - |
| intron-5UTR | ENST00000523799 | ENST00000603053 | CCNC | chr6 | 100016372 | - | ERVW-1 | chr7 | 92098259 | - |
| intron-5UTR | ENST00000523799 | ENST00000493463 | CCNC | chr6 | 100016372 | - | ERVW-1 | chr7 | 92098259 | - |
| 5UTR-5UTR | ENST00000523985 | ENST00000604270 | CCNC | chr6 | 100016372 | - | ERVW-1 | chr7 | 92098259 | - |
| 5UTR-5UTR | ENST00000523985 | ENST00000603053 | CCNC | chr6 | 100016372 | - | ERVW-1 | chr7 | 92098259 | - |
| 5UTR-5UTR | ENST00000523985 | ENST00000493463 | CCNC | chr6 | 100016372 | - | ERVW-1 | chr7 | 92098259 | - |
| 5CDS-5UTR | ENST00000518714 | ENST00000604270 | CCNC | chr6 | 100016372 | - | ERVW-1 | chr7 | 92098259 | - |
| 5CDS-5UTR | ENST00000518714 | ENST00000603053 | CCNC | chr6 | 100016372 | - | ERVW-1 | chr7 | 92098259 | - |
| 5CDS-5UTR | ENST00000518714 | ENST00000493463 | CCNC | chr6 | 100016372 | - | ERVW-1 | chr7 | 92098259 | - |
| 5UTR-5UTR | ENST00000521017 | ENST00000604270 | CCNC | chr6 | 100016372 | - | ERVW-1 | chr7 | 92098259 | - |
| 5UTR-5UTR | ENST00000521017 | ENST00000603053 | CCNC | chr6 | 100016372 | - | ERVW-1 | chr7 | 92098259 | - |
| 5UTR-5UTR | ENST00000521017 | ENST00000493463 | CCNC | chr6 | 100016372 | - | ERVW-1 | chr7 | 92098259 | - |
| 5CDS-5UTR | ENST00000482541 | ENST00000604270 | CCNC | chr6 | 100016372 | - | ERVW-1 | chr7 | 92098259 | - |
| 5CDS-5UTR | ENST00000482541 | ENST00000603053 | CCNC | chr6 | 100016372 | - | ERVW-1 | chr7 | 92098259 | - |
| 5CDS-5UTR | ENST00000482541 | ENST00000493463 | CCNC | chr6 | 100016372 | - | ERVW-1 | chr7 | 92098259 | - |
Top |
FusionProtFeatures for CCNC_ERVW-1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| CCNC | ERVW-1 |
| Component of the Mediator complex, a coactivatorinvolved in regulated gene transcription of nearly all RNApolymerase II-dependent genes. Mediator functions as a bridge toconvey information from gene-specific regulatory proteins to thebasal RNA polymerase II transcription machinery. Mediator isrecruited to promoters by direct interactions with regulatoryproteins and serves as a scaffold for the assembly of a functionalpreinitiation complex with RNA polymerase II and the generaltranscription factors. Binds to and activates cyclin-dependentkinase CDK8 that phosphorylates the CTD (C-terminal domain) of thelarge subunit of RNA polymerase II (RNAp II), which may inhibitthe formation of a transcription initiation complex.{ECO:0000269|PubMed:16595664, ECO:0000269|PubMed:8700522}. | This endogenous retroviral envelope protein has retainedits original fusogenic properties and participates in trophoblastfusion and the formation of a syncytium during placentamorphogenesis. May induce fusion through binding of SLC1A4 andSLC1A5 (PubMed:10708449, PubMed:12050356, PubMed:23492904).{ECO:0000269|PubMed:10708449, ECO:0000269|PubMed:12050356,ECO:0000269|PubMed:23492904}. Endogenous envelope proteins may have kept, lost ormodified their original function during evolution. Retroviralenvelope proteins mediate receptor recognition and membrane fusionduring early infection. The surface protein (SU) mediates receptorrecognition, while the transmembrane protein (TM) acts as a classI viral fusion protein. The protein may have at least 3conformational states: pre-fusion native state, pre-hairpinintermediate state, and post-fusion hairpin state. During viraland target cell membrane fusion, the coiled coil regions (heptadrepeats) assume a trimer-of-hairpins structure, positioning thefusion peptide in close proximity to the C-terminal region of theectodomain. The formation of this structure appears to driveapposition and subsequent fusion of membranes. |
| 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 CCNC_ERVW-1 |
| 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 CCNC_ERVW-1 |
| 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 |
| CCNC | MED10, MED29, MED19, MED28, CDK8, CREBBP, MCM2, ESR1, ESR2, MED12, MED1, MED18, ZC3H13, SOCS2, CISH, GTF2F1, FBXW7, MED26, RB1, CDK3, ERCC3, CCNH, MED6, TP63, CDK19, CRX, GOLGA2, KRT13, KRT15, KRT31, MEOX2, MGST3, NEFL, ZNF18, TADA3, PUF60, MBIP, TRIM39, PBXIP1, NMNAT1, LZTS2, GLYR1, FOXP2, PNMA5, DYDC1, MED7, SPEN, MED13, MED27, MED31, MED13L, MED14, MED12L, MED16, MED23, MED15, MED4, MED17, MED22, MED24, MED20, MED21, MED30, MED8, HSPB1, GPC4, LZIC, MED9, MED25, MED11, TRIM25 | ERVW-1 |
| - 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 CCNC_ERVW-1 |
| 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 |
Top |
RelatedDiseases for CCNC_ERVW-1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | ERVW-1 | C0036341 | Schizophrenia | 2 | PSYGENET |
| Tgene | ERVW-1 | C0005586 | Bipolar Disorder | 1 | PSYGENET |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
|