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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 5860

FusionGeneSummary for CCDC50_BIRC6

check button Fusion gene summary
Fusion gene informationFusion gene name: CCDC50_BIRC6
Fusion gene ID: 5860
HgeneTgene
Gene symbol

CCDC50

BIRC6

Gene ID

152137

57448

Gene namecoiled-coil domain containing 50baculoviral IAP repeat containing 6
SynonymsC3orf6|DFNA44|YMERAPOLLON|BRUCE
Cytomap

3q28

2p22.3

Type of geneprotein-codingprotein-coding
Descriptioncoiled-coil domain-containing protein 50protein Ymerbaculoviral IAP repeat-containing protein 6BIR repeat-containing ubiquitin-conjugating enzymeRING-type E3 ubiquitin transferase BIRC6ubiquitin-conjugating BIR-domain enzyme apollon
Modification date2018051920180523
UniProtAcc

Q8IVM0

Q9NR09

Ensembl transtripts involved in fusion geneENST00000392455, ENST00000392456, 
ENST00000421745, 
Fusion gene scores* DoF score5 X 4 X 4=8017 X 11 X 13=2431
# samples 523
** MAII scorelog2(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)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID

check button 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 typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChiTaRS3.1BF818564CCDC50chr3

191089056

-BIRC6chr2

32731813

-
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

check button 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.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
intron-intronENST00000392455ENST00000421745CCDC50chr3

191089056

-BIRC6chr2

32731813

-
intron-intronENST00000392456ENST00000421745CCDC50chr3

191089056

-BIRC6chr2

32731813

-

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FusionProtFeatures for CCDC50_BIRC6


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
CCDC50

Q8IVM0

BIRC6

Q9NR09

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}.

check buttonRetention 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

download page

.

* 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.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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FusionGeneSequence for CCDC50_BIRC6


check button 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 CCDC50_BIRC6


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page

.

check button Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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RelatedDrugs for CCDC50_BIRC6


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for CCDC50_BIRC6


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource