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Center for Computational Systems Medicine level1
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Fusion Gene Summary

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Fusion Gene Sample Information

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Fusion ORF Analysis

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Fusion Amino Acid Sequences

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Fusion Protein Functional Features

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Fusion Protein-Protein Interaction

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Related drugs with this fusion protein

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Related disease with this fusion protein

Fusion Protein:CCAR1-DDX21

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: CCAR1-DDX21
FusionPDB ID: 13517
FusionGDB2.0 ID: 13517
HgeneTgene
Gene symbol

CCAR1

DDX21

Gene ID

55749

54606

Gene namecell division cycle and apoptosis regulator 1DEAD-box helicase 56
Synonyms-DDX21|DDX26|NOH61
Cytomap

10q21.3

7p13

Type of geneprotein-codingprotein-coding
Descriptioncell division cycle and apoptosis regulator protein 1cell cycle and apoptosis regulatory protein 1death inducer with SAP domainprobable ATP-dependent RNA helicase DDX5661-kd nucleolar helicaseATP-dependent 61 kDa nucleolar RNA helicaseDEAD (Asp-Glu-Ala-Asp) box helicase 56DEAD (Asp-Glu-Ala-Asp) box polypeptide 56DEAD box protein 21DEAD box protein 56DEAD-box RNA helicasen
Modification date2020031320200313
UniProtAcc

Q8IX12

Q9NR30

Ensembl transtripts involved in fusion geneENST idsENST00000265872, ENST00000535016, 
ENST00000543719, ENST00000483264, 
ENST00000354185, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score13 X 11 X 8=114436 X 11 X 14=5544
# samples 1737
** MAII scorelog2(17/1144*10)=-2.75048040064069
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(37/5544*10)=-3.9053300816209
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)

PubMed: CCAR1 [Title/Abstract] AND DDX21 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)CCAR1(70482334)-DDX21(70723046), # samples:1
Anticipated loss of major functional domain due to fusion event.CCAR1-DDX21 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
CCAR1-DDX21 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
CCAR1-DDX21 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.
CCAR1-DDX21 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.
* 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
HgeneCCAR1

GO:0043065

positive regulation of apoptotic process

12816952


check buttonFusion gene breakpoints across CCAR1 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

check buttonFusion gene breakpoints across DDX21 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure


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Fusion Gene Sample Information

check buttonFusion gene information from FusionGDB2.0.
check button Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0)
* 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.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChimerDB4STADTCGA-VQ-A8PECCAR1chr10

70482334

+DDX21chr10

70723046

+


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Fusion ORF Analysis


check buttonFusion information from ORFfinder translation from full-length transcript sequence from FusionPDB.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)
BP loci
(transcript)
Predicted start
(transcript)
Predicted stop
(transcript)
Seq length
(amino acids)
ENST00000535016CCAR1chr1070482334+ENST00000354185DDX21chr1070723046+41981921191936605
ENST00000265872CCAR1chr1070482334+ENST00000354185DDX21chr1070723046+41981921191936605
ENST00000543719CCAR1chr1070482334+ENST00000354185DDX21chr1070723046+41921861131930605

check buttonDeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score
ENST00000535016ENST00000354185CCAR1chr1070482334+DDX21chr1070723046+0.0007344070.9992656
ENST00000265872ENST00000354185CCAR1chr1070482334+DDX21chr1070723046+0.0007344070.9992656
ENST00000543719ENST00000354185CCAR1chr1070482334+DDX21chr1070723046+0.0007254990.99927455

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Fusion Amino Acid Sequences


check button For individual full-length fusion transcript sequence from FusionPDB, we ran ORFfinder and chose the longest ORF among the all predicted ones.
>FusionGDB ID_FusionGDB isoform ID_FGname_Hgene_Hchr_Hbp_Henst_Tgene_Tchr_Tbp_Tenst_length(fusion AA) seq_BP

>13517_13517_1_CCAR1-DDX21_CCAR1_chr10_70482334_ENST00000265872_DDX21_chr10_70723046_ENST00000354185_length(amino acids)=605AA_BP=18
MAQFGGQKNPPWATQFTATAVSQPGRGVTFLFPIQAKTFHHVYSGKDLIAQARTGTGKTFSFAIPLIEKLHGELQDRKRGRAPQVLVLAP
TRELANQVSKDFSDITKKLSVACFYGGTPYGGQFERMRNGIDILVGTPGRIKDHIQNGKLDLTKLKHVVLDEVDQMLDMGFADQVEEILS
VAYKKDSEDNPQTLLFSATCPHWVFNVAKKYMKSTYEQVDLIGKKTQKTAITVEHLAIKCHWTQRAAVIGDVIRVYSGHQGRTIIFCETK
KEAQELSQNSAIKQDAQSLHGDIPQKQREITLKGFRNGSFGVLVATNVAARGLDIPEVDLVIQSSPPKDVESYIHRSGRTGRAGRTGVCI
CFYQHKEEYQLVQVEQKAGIKFKRIGVPSATEIIKASSKDAIRLLDSVPPTAISHFKQSAEKLIEEKGAVEALAAALAHISGATSVDQRS
LINSNVGFVTMILQCSIEMPNISYAWKELKEQLGEEIDSKVKGMVFLKGKLGVCFDVPTASVTEIQEKWHDSRRWQLSVATEQPELEGPR

--------------------------------------------------------------

>13517_13517_2_CCAR1-DDX21_CCAR1_chr10_70482334_ENST00000535016_DDX21_chr10_70723046_ENST00000354185_length(amino acids)=605AA_BP=18
MAQFGGQKNPPWATQFTATAVSQPGRGVTFLFPIQAKTFHHVYSGKDLIAQARTGTGKTFSFAIPLIEKLHGELQDRKRGRAPQVLVLAP
TRELANQVSKDFSDITKKLSVACFYGGTPYGGQFERMRNGIDILVGTPGRIKDHIQNGKLDLTKLKHVVLDEVDQMLDMGFADQVEEILS
VAYKKDSEDNPQTLLFSATCPHWVFNVAKKYMKSTYEQVDLIGKKTQKTAITVEHLAIKCHWTQRAAVIGDVIRVYSGHQGRTIIFCETK
KEAQELSQNSAIKQDAQSLHGDIPQKQREITLKGFRNGSFGVLVATNVAARGLDIPEVDLVIQSSPPKDVESYIHRSGRTGRAGRTGVCI
CFYQHKEEYQLVQVEQKAGIKFKRIGVPSATEIIKASSKDAIRLLDSVPPTAISHFKQSAEKLIEEKGAVEALAAALAHISGATSVDQRS
LINSNVGFVTMILQCSIEMPNISYAWKELKEQLGEEIDSKVKGMVFLKGKLGVCFDVPTASVTEIQEKWHDSRRWQLSVATEQPELEGPR

--------------------------------------------------------------

>13517_13517_3_CCAR1-DDX21_CCAR1_chr10_70482334_ENST00000543719_DDX21_chr10_70723046_ENST00000354185_length(amino acids)=605AA_BP=18
MAQFGGQKNPPWATQFTATAVSQPGRGVTFLFPIQAKTFHHVYSGKDLIAQARTGTGKTFSFAIPLIEKLHGELQDRKRGRAPQVLVLAP
TRELANQVSKDFSDITKKLSVACFYGGTPYGGQFERMRNGIDILVGTPGRIKDHIQNGKLDLTKLKHVVLDEVDQMLDMGFADQVEEILS
VAYKKDSEDNPQTLLFSATCPHWVFNVAKKYMKSTYEQVDLIGKKTQKTAITVEHLAIKCHWTQRAAVIGDVIRVYSGHQGRTIIFCETK
KEAQELSQNSAIKQDAQSLHGDIPQKQREITLKGFRNGSFGVLVATNVAARGLDIPEVDLVIQSSPPKDVESYIHRSGRTGRAGRTGVCI
CFYQHKEEYQLVQVEQKAGIKFKRIGVPSATEIIKASSKDAIRLLDSVPPTAISHFKQSAEKLIEEKGAVEALAAALAHISGATSVDQRS
LINSNVGFVTMILQCSIEMPNISYAWKELKEQLGEEIDSKVKGMVFLKGKLGVCFDVPTASVTEIQEKWHDSRRWQLSVATEQPELEGPR

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Fusion Protein Functional Features


check button Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr10:70482334/chr10:70723046)
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
- How to search
1. Put your fusion gene symbol.
2. Press the tab key until there will be shown the breakpoint information filled.
4. Go down and press 'Search' tab twice.
4. Go down to have the hyperlink of the search result.
5. Click the hyperlink.
6. See the FGviewer result for your fusion gene.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
CCAR1

Q8IX12

DDX21

Q9NR30

FUNCTION: Associates with components of the Mediator and p160 coactivator complexes that play a role as intermediaries transducing regulatory signals from upstream transcriptional activator proteins to basal transcription machinery at the core promoter. Recruited to endogenous nuclear receptor target genes in response to the appropriate hormone. Also functions as a p53 coactivator. May thus play an important role in transcriptional regulation (By similarity). May be involved in apoptosis signaling in the presence of the reinoid CD437. Apoptosis induction involves sequestration of 14-3-3 protein(s) and mediated altered expression of multiple cell cycle regulatory genes including MYC, CCNB1 and CDKN1A. Plays a role in cell cycle progression and/or cell proliferation (PubMed:12816952). In association with CALCOCO1 enhances GATA1- and MED1-mediated transcriptional activation from the gamma-globin promoter during erythroid differentiation of K562 erythroleukemia cells (PubMed:24245781). Can act as a both a coactivator and corepressor of AR-mediated transcription. Contributes to chromatin looping and AR transcription complex assembly by stabilizing AR-GATA2 association on chromatin and facilitating MED1 and RNA polymerase II recruitment to AR-binding sites. May play an important role in the growth and tumorigenesis of prostate cancer cells (PubMed:23887938). {ECO:0000250|UniProtKB:Q8CH18, ECO:0000269|PubMed:12816952, ECO:0000269|PubMed:23887938, ECO:0000269|PubMed:24245781}.FUNCTION: RNA helicase that acts as a sensor of the transcriptional status of both RNA polymerase (Pol) I and II: promotes ribosomal RNA (rRNA) processing and transcription from polymerase II (Pol II) (PubMed:25470060, PubMed:28790157). Binds various RNAs, such as rRNAs, snoRNAs, 7SK and, at lower extent, mRNAs (PubMed:25470060). In the nucleolus, localizes to rDNA locus, where it directly binds rRNAs and snoRNAs, and promotes rRNA transcription, processing and modification. Required for rRNA 2'-O-methylation, possibly by promoting the recruitment of late-acting snoRNAs SNORD56 and SNORD58 with pre-ribosomal complexes (PubMed:25470060, PubMed:25477391). In the nucleoplasm, binds 7SK RNA and is recruited to the promoters of Pol II-transcribed genes: acts by facilitating the release of P-TEFb from inhibitory 7SK snRNP in a manner that is dependent on its helicase activity, thereby promoting transcription of its target genes (PubMed:25470060). Functions as cofactor for JUN-activated transcription: required for phosphorylation of JUN at 'Ser-77' (PubMed:11823437, PubMed:25260534). Can unwind double-stranded RNA (helicase) and can fold or introduce a secondary structure to a single-stranded RNA (foldase) (PubMed:9461305). Together with SIRT7, required to prevent R-loop-associated DNA damage and transcription-associated genomic instability: deacetylation by SIRT7 activates the helicase activity, thereby overcoming R-loop-mediated stalling of RNA polymerases (PubMed:28790157). Involved in rRNA processing (PubMed:14559904, PubMed:18180292). May bind to specific miRNA hairpins (PubMed:28431233). Component of a multi-helicase-TICAM1 complex that acts as a cytoplasmic sensor of viral double-stranded RNA (dsRNA) and plays a role in the activation of a cascade of antiviral responses including the induction of proinflammatory cytokines via the adapter molecule TICAM1 (By similarity). {ECO:0000250|UniProtKB:Q9JIK5, ECO:0000269|PubMed:11823437, ECO:0000269|PubMed:14559904, ECO:0000269|PubMed:18180292, ECO:0000269|PubMed:25260534, ECO:0000269|PubMed:25470060, ECO:0000269|PubMed:25477391, ECO:0000269|PubMed:28431233, ECO:0000269|PubMed:28790157, ECO:0000269|PubMed:9461305}.

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.
- Retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
TgeneDDX21chr10:70482334chr10:70723046ENST00000354185215217_396202.33333333333334784.0DomainHelicase ATP-binding
TgeneDDX21chr10:70482334chr10:70723046ENST00000354185215429_573202.33333333333334784.0DomainHelicase C-terminal
TgeneDDX21chr10:70482334chr10:70723046ENST00000354185215339_342202.33333333333334784.0MotifDEAD box
TgeneDDX21chr10:70482334chr10:70723046ENST00000354185215230_237202.33333333333334784.0Nucleotide bindingATP
TgeneDDX21chr10:70482334chr10:70723046ENST00000354185215724_748202.33333333333334784.0RegionNote=3 X 5 AA repeats
TgeneDDX21chr10:70482334chr10:70723046ENST00000354185215724_728202.33333333333334784.0RepeatNote=1
TgeneDDX21chr10:70482334chr10:70723046ENST00000354185215734_738202.33333333333334784.0RepeatNote=2
TgeneDDX21chr10:70482334chr10:70723046ENST00000354185215744_748202.33333333333334784.0RepeatNote=3

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneCCAR1chr10:70482334chr10:70723046ENST00000265872+2251033_111424.3333333333333321151.0Coiled coilOntology_term=ECO:0000255
HgeneCCAR1chr10:70482334chr10:70723046ENST00000265872+225594_61824.3333333333333321151.0Coiled coilOntology_term=ECO:0000255
HgeneCCAR1chr10:70482334chr10:70723046ENST00000535016+2241033_111424.3333333333333321136.0Coiled coilOntology_term=ECO:0000255
HgeneCCAR1chr10:70482334chr10:70723046ENST00000535016+224594_61824.3333333333333321136.0Coiled coilOntology_term=ECO:0000255
HgeneCCAR1chr10:70482334chr10:70723046ENST00000543719+2241033_111424.3333333333333321136.0Coiled coilOntology_term=ECO:0000255
HgeneCCAR1chr10:70482334chr10:70723046ENST00000543719+224594_61824.3333333333333321136.0Coiled coilOntology_term=ECO:0000255
HgeneCCAR1chr10:70482334chr10:70723046ENST00000265872+225293_36124.3333333333333321151.0Compositional biasNote=Arg-rich
HgeneCCAR1chr10:70482334chr10:70723046ENST00000265872+225673_88924.3333333333333321151.0Compositional biasNote=Glu-rich
HgeneCCAR1chr10:70482334chr10:70723046ENST00000265872+22573_7924.3333333333333321151.0Compositional biasNote=Poly-Ala
HgeneCCAR1chr10:70482334chr10:70723046ENST00000535016+224293_36124.3333333333333321136.0Compositional biasNote=Arg-rich
HgeneCCAR1chr10:70482334chr10:70723046ENST00000535016+224673_88924.3333333333333321136.0Compositional biasNote=Glu-rich
HgeneCCAR1chr10:70482334chr10:70723046ENST00000535016+22473_7924.3333333333333321136.0Compositional biasNote=Poly-Ala
HgeneCCAR1chr10:70482334chr10:70723046ENST00000543719+224293_36124.3333333333333321136.0Compositional biasNote=Arg-rich
HgeneCCAR1chr10:70482334chr10:70723046ENST00000543719+224673_88924.3333333333333321136.0Compositional biasNote=Glu-rich
HgeneCCAR1chr10:70482334chr10:70723046ENST00000543719+22473_7924.3333333333333321136.0Compositional biasNote=Poly-Ala
HgeneCCAR1chr10:70482334chr10:70723046ENST00000265872+225636_67024.3333333333333321151.0DomainSAP
HgeneCCAR1chr10:70482334chr10:70723046ENST00000535016+224636_67024.3333333333333321136.0DomainSAP
HgeneCCAR1chr10:70482334chr10:70723046ENST00000543719+224636_67024.3333333333333321136.0DomainSAP
TgeneDDX21chr10:70482334chr10:70723046ENST00000354185215186_214202.33333333333334784.0MotifQ motif


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Fusion Protein-Protein Interaction


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 from validated records (BIOGRID-3.4.160)
GenePPI interactors


check button Protein-protein interactors based on sequence similarity (STRING)
GeneSTRING network
CCAR1
DDX21


check button - Retained interactions in fusion protein (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost interactions due to fusion (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with
HgeneCCAR1chr10:70482334chr10:70723046ENST00000265872+2251_24924.3333333333333321151.0AR
HgeneCCAR1chr10:70482334chr10:70723046ENST00000535016+2241_24924.3333333333333321136.0AR
HgeneCCAR1chr10:70482334chr10:70723046ENST00000543719+2241_24924.3333333333333321136.0AR
HgeneCCAR1chr10:70482334chr10:70723046ENST00000265872+225643_115024.3333333333333321151.0GATA1
HgeneCCAR1chr10:70482334chr10:70723046ENST00000535016+224643_115024.3333333333333321136.0GATA1
HgeneCCAR1chr10:70482334chr10:70723046ENST00000543719+224643_115024.3333333333333321136.0GATA1
HgeneCCAR1chr10:70482334chr10:70723046ENST00000265872+225203_66024.3333333333333321151.0GATA2
HgeneCCAR1chr10:70482334chr10:70723046ENST00000535016+224203_66024.3333333333333321136.0GATA2
HgeneCCAR1chr10:70482334chr10:70723046ENST00000543719+224203_66024.3333333333333321136.0GATA2


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Related Drugs to CCAR1-DDX21


check button Drugs used for this fusion-positive patient.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDrugSourcePMID

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Related Diseases to CCAR1-DDX21


check button Diseases that have this fusion gene.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDiseaseSourcePMID

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