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Fusion gene ID: 5764 |
FusionGeneSummary for CCDC109B_C4BPA |
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Fusion gene information | Fusion gene name: CCDC109B_C4BPA | Fusion gene ID: 5764 | Hgene | Tgene | Gene symbol | CCDC109B | C4BPA | Gene ID | 55013 | 722 |
Gene name | mitochondrial calcium uniporter dominant negative beta subunit | complement component 4 binding protein alpha | |
Synonyms | CCDC109B | C4BP|PRP | |
Cytomap | 4q25 | 1q32.2 | |
Type of gene | protein-coding | protein-coding | |
Description | calcium uniporter regulatory subunit MCUb, mitochondrialcoiled-coil domain containing 109Bcoiled-coil domain-containing protein 109Bmitochondrial calcium uniporter regulatory subunit MCUb | C4b-binding protein alpha chainproline-rich protein | |
Modification date | 20180523 | 20180519 | |
UniProtAcc | P04003 | ||
Ensembl transtripts involved in fusion gene | ENST00000394650, ENST00000515114, | ENST00000367070, | |
Fusion gene scores | * DoF score | 1 X 1 X 1=1 | 2 X 3 X 3=18 |
# samples | 1 | 3 | |
** MAII score | log2(1/1*10)=3.32192809488736 | log2(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) |
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Partner | Gene | GO ID | GO term | PubMed ID |
Tgene | C4BPA | GO:0045732 | positive regulation of protein catabolic process | 22333221 |
Tgene | C4BPA | GO:0045959 | negative regulation of complement activation, classical pathway | 22333221 |
![]() (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 | RV | BRCA | TCGA-AO-A0J2-01A | CCDC109B | chr4 | 110481592 | + | C4BPA | chr1 | 207317163 | + |
* 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 |
Frame-shift | ENST00000394650 | ENST00000367070 | CCDC109B | chr4 | 110481592 | + | C4BPA | chr1 | 207317163 | + |
3UTR-3CDS | ENST00000515114 | ENST00000367070 | CCDC109B | chr4 | 110481592 | + | C4BPA | chr1 | 207317163 | + |
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FusionProtFeatures for CCDC109B_C4BPA |
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Hgene | Tgene |
CCDC109B | C4BPA |
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. |
![]() * 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 CCDC109B_C4BPA |
![]() (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 |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
CCDC109B | ZBTB16, GNAI2, TXNDC15, SETDB1, FAF2, ASPH, APLNR, MRPL12 | C4BPA | APCS, FN1, FXYD6, GTF2I, LBP, SMARCD1, GIT2, MYH11, TSNAX, SEC16A, ARMC6 |
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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 CCDC109B_C4BPA |
![]() (DrugBank Version 5.1.0 2018-04-02) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
Tgene | C4BPA | P04003 | DB01593 | Zinc | C4b-binding protein alpha chain | small molecule | approved|investigational |
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RelatedDiseases for CCDC109B_C4BPA |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Tgene | C4BPA | C0036341 | Schizophrenia | 1 | PSYGENET |