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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: 5764

FusionGeneSummary for CCDC109B_C4BPA

check button Fusion gene summary
Fusion gene informationFusion gene name: CCDC109B_C4BPA
Fusion gene ID: 5764
HgeneTgene
Gene symbol

CCDC109B

C4BPA

Gene ID

55013

722

Gene namemitochondrial calcium uniporter dominant negative beta subunitcomplement component 4 binding protein alpha
SynonymsCCDC109BC4BP|PRP
Cytomap

4q25

1q32.2

Type of geneprotein-codingprotein-coding
Descriptioncalcium uniporter regulatory subunit MCUb, mitochondrialcoiled-coil domain containing 109Bcoiled-coil domain-containing protein 109Bmitochondrial calcium uniporter regulatory subunit MCUbC4b-binding protein alpha chainproline-rich protein
Modification date2018052320180519
UniProtAcc

P04003

Ensembl transtripts involved in fusion geneENST00000394650, ENST00000515114, 
ENST00000367070, 
Fusion gene scores* DoF score1 X 1 X 1=12 X 3 X 3=18
# samples 13
** MAII scorelog2(1/1*10)=3.32192809488736log2(3/18*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: CCDC109B [Title/Abstract] AND C4BPA [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
TgeneC4BPA

GO:0045732

positive regulation of protein catabolic process

22333221

TgeneC4BPA

GO:0045959

negative regulation of complement activation, classical pathway

22333221


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
TCGARVBRCATCGA-AO-A0J2-01ACCDC109Bchr4

110481592

+C4BPAchr1

207317163

+
* 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
Frame-shiftENST00000394650ENST00000367070CCDC109Bchr4

110481592

+C4BPAchr1

207317163

+
3UTR-3CDSENST00000515114ENST00000367070CCDC109Bchr4

110481592

+C4BPAchr1

207317163

+

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FusionProtFeatures for CCDC109B_C4BPA


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
CCDC109B

C4BPA

P04003

Lectin that binds to various sugars: galactose > mannose= fucose > N-acetylglucosamine > N-acetylgalactosamine(PubMed:10224141). Acts as a chemoattractant, probably involved inthe regulation of cell migration (PubMed:28301481).{ECO:0000269|PubMed:10224141, ECO:0000269|PubMed:28301481}. Controls the classical pathway of complement activation.It binds as a cofactor to C3b/C4b inactivator (C3bINA), which thenhydrolyzes the complement fragment C4b. It also accelerates thedegradation of the C4bC2a complex (C3 convertase) by dissociatingthe complement fragment C2a. Alpha chain binds C4b. It interactsalso with anticoagulant protein S and with serum amyloid Pcomponent.

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 CCDC109B_C4BPA


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 CCDC109B_C4BPA


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
CCDC109BZBTB16, GNAI2, TXNDC15, SETDB1, FAF2, ASPH, APLNR, MRPL12C4BPAAPCS, FN1, FXYD6, GTF2I, LBP, SMARCD1, GIT2, MYH11, TSNAX, SEC16A, ARMC6


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 CCDC109B_C4BPA


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneC4BPAP04003DB01593ZincC4b-binding protein alpha chainsmall moleculeapproved|investigational

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RelatedDiseases for CCDC109B_C4BPA


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneC4BPAC0036341Schizophrenia1PSYGENET