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Fusion gene ID: 5860 |
FusionGeneSummary for CCDC50_BIRC6 |
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Fusion gene information | Fusion gene name: CCDC50_BIRC6 | Fusion gene ID: 5860 | Hgene | Tgene | Gene symbol | CCDC50 | BIRC6 | Gene ID | 152137 | 57448 |
Gene name | coiled-coil domain containing 50 | baculoviral IAP repeat containing 6 | |
Synonyms | C3orf6|DFNA44|YMER | APOLLON|BRUCE | |
Cytomap | 3q28 | 2p22.3 | |
Type of gene | protein-coding | protein-coding | |
Description | coiled-coil domain-containing protein 50protein Ymer | baculoviral IAP repeat-containing protein 6BIR repeat-containing ubiquitin-conjugating enzymeRING-type E3 ubiquitin transferase BIRC6ubiquitin-conjugating BIR-domain enzyme apollon | |
Modification date | 20180519 | 20180523 | |
UniProtAcc | Q8IVM0 | Q9NR09 | |
Ensembl transtripts involved in fusion gene | ENST00000392455, ENST00000392456, | ENST00000421745, | |
Fusion gene scores | * DoF score | 5 X 4 X 4=80 | 17 X 11 X 13=2431 |
# samples | 5 | 23 | |
** MAII score | log2(5/80*10)=-0.678071905112638 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(23/2431*10)=-3.40184412708435 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: CCDC50 [Title/Abstract] AND BIRC6 [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 |
![]() (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 | BF818564 | CCDC50 | chr3 | 191089056 | - | BIRC6 | chr2 | 32731813 | - |
* 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 |
intron-intron | ENST00000392455 | ENST00000421745 | CCDC50 | chr3 | 191089056 | - | BIRC6 | chr2 | 32731813 | - |
intron-intron | ENST00000392456 | ENST00000421745 | CCDC50 | chr3 | 191089056 | - | BIRC6 | chr2 | 32731813 | - |
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FusionProtFeatures for CCDC50_BIRC6 |
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Hgene | Tgene |
CCDC50 | BIRC6 |
Involved in EGFR signaling.{ECO:0000269|PubMed:15314609}. | Anti-apoptotic protein which can regulate cell death bycontrolling caspases and by acting as an E3 ubiquitin-proteinligase. Has an unusual ubiquitin conjugation system in that itcould combine in a single polypeptide, ubiquitin conjugating (E2)with ubiquitin ligase (E3) activity, forming a chimeric E2/E3ubiquitin ligase. Its tragets include CASP9 and DIABLO/SMAC. Actsas an inhibitor of CASP3, CASP7 and CASP9. Important regulator forthe final stages of cytokinesis. Crucial for normal vesicletargeting to the site of abscission, but also for the integrity ofthe midbody and the midbody ring, and its striking ubiquitinmodification. {ECO:0000269|PubMed:14765125,ECO:0000269|PubMed:15200957, ECO:0000269|PubMed:18329369}. |
![]() * 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 CCDC50_BIRC6 |
![]() (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 CCDC50_BIRC6 |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
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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 CCDC50_BIRC6 |
![]() (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 CCDC50_BIRC6 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |