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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-CAAP1

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: CCAR1-CAAP1
FusionPDB ID: 13515
FusionGDB2.0 ID: 13515
HgeneTgene
Gene symbol

CCAR1

CAAP1

Gene ID

55749

79886

Gene namecell division cycle and apoptosis regulator 1caspase activity and apoptosis inhibitor 1
Synonyms-C9orf82|CAAP
Cytomap

10q21.3

9p21.2

Type of geneprotein-codingprotein-coding
Descriptioncell division cycle and apoptosis regulator protein 1cell cycle and apoptosis regulatory protein 1death inducer with SAP domaincaspase activity and apoptosis inhibitor 1conserved anti-apoptotic protein
Modification date2020031320200313
UniProtAcc

Q8IX12

Q9H8G2

Ensembl transtripts involved in fusion geneENST idsENST00000265872, ENST00000535016, 
ENST00000543719, ENST00000483264, 
ENST00000495958, ENST00000535437, 
ENST00000520187, ENST00000333916, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score13 X 11 X 8=11443 X 2 X 3=18
# samples 174
** MAII scorelog2(17/1144*10)=-2.75048040064069
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(4/18*10)=1.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context (manual curation of fusion genes in FusionPDB)

PubMed: CCAR1 [Title/Abstract] AND CAAP1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)CCAR1(70514584)-CAAP1(26887511), # samples:1
Anticipated loss of major functional domain due to fusion event.CCAR1-CAAP1 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-CAAP1 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-CAAP1 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-CAAP1 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 CAAP1 (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
ChimerDB4UCSTCGA-N8-A4PLCCAR1chr10

70514584

+CAAP1chr9

26887511

-


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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)
ENST00000535016CCAR1chr1070514584+ENST00000333916CAAP1chr926887511-393115321192314731
ENST00000265872CCAR1chr1070514584+ENST00000333916CAAP1chr926887511-397615771192359746
ENST00000543719CCAR1chr1070514584+ENST00000333916CAAP1chr926887511-392515261132308731

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
ENST00000535016ENST00000333916CCAR1chr1070514584+CAAP1chr926887511-0.0008489140.9991511
ENST00000265872ENST00000333916CCAR1chr1070514584+CAAP1chr926887511-0.0010501070.99894994
ENST00000543719ENST00000333916CCAR1chr1070514584+CAAP1chr926887511-0.0008301840.9991698

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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

>13515_13515_1_CCAR1-CAAP1_CCAR1_chr10_70514584_ENST00000265872_CAAP1_chr9_26887511_ENST00000333916_length(amino acids)=746AA_BP=486
MAQFGGQKNPPWATQFTATAVSQPAALGVQQPSLLGASPTIYTQQTALAAAGLTTQTPANYQLTQTAALQQQAAAAAAALQQQYSQPQQA
LYSVQQQLQQPQQTLLTQPAVALPTSLSLSTPQPTAQITVSYPTPRSSQQQTQPQKQRVFTGVVTKLHDTFGFVDEDVFFQLSAVKGKTP
QVGDRVLVEATYNPNMPFKWNAQRIQTLPNQNQSQTQPLLKTPPAVLQPIAPQTTFGVQTQPQPQSLLQAQISAASITPLLQTQPQPLLQ
QPQQKAGLLQPPVRIVSQPQPARRLDPPSRFSGRNDRGDQVPNRKDDRSRERERERRRSRERSPQRKRSRERSPRRERERSPRRVRRVVP
RYTVQFSKFSLDCPSCDMMELRRRYQNLYIPSDFFDAQFTWVDAFPLSRPFQLGNYCNFYVMHREVESLEKNMAILDPPDADHLYSAKVM
LMASPSMEDLYHKSCALAEDPQELRDGFQHPARLVKETKYILPTLEKELFLAEHSDLEEGGLDLTVSLKPVSFYISDKKEMLQQCFCIIG
EKKLQKMLPDVLKNCSIEEIKKLCQEQLELLSEKKILKILEGDNGMDSDMEEEADDGSKMGSDLVSQQDICIDSASSVRENKQPEGLELK
QGKGEDSDVLSINADAYDSDIEGPCNEEAAAPEAPENTVQSEAGQIDDLEKDIEKSVNEILGLAESSPNEPKAATLAVPPPEDVQPSAQQ

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

>13515_13515_2_CCAR1-CAAP1_CCAR1_chr10_70514584_ENST00000535016_CAAP1_chr9_26887511_ENST00000333916_length(amino acids)=731AA_BP=471
MAQFGGQKNPPWATQFTATAVSQPAALGVQQPSLLGASPTIYTQQTALAAAGLTTQTPANYQLTQTAALQQQAAAAAAALQQLQQPQQTL
LTQPAVALPTSLSLSTPQPTAQITVSYPTPRSSQQQTQPQKQRVFTGVVTKLHDTFGFVDEDVFFQLSAVKGKTPQVGDRVLVEATYNPN
MPFKWNAQRIQTLPNQNQSQTQPLLKTPPAVLQPIAPQTTFGVQTQPQPQSLLQAQISAASITPLLQTQPQPLLQQPQQKAGLLQPPVRI
VSQPQPARRLDPPSRFSGRNDRGDQVPNRKDDRSRERERERRRSRERSPQRKRSRERSPRRERERSPRRVRRVVPRYTVQFSKFSLDCPS
CDMMELRRRYQNLYIPSDFFDAQFTWVDAFPLSRPFQLGNYCNFYVMHREVESLEKNMAILDPPDADHLYSAKVMLMASPSMEDLYHKSC
ALAEDPQELRDGFQHPARLVKETKYILPTLEKELFLAEHSDLEEGGLDLTVSLKPVSFYISDKKEMLQQCFCIIGEKKLQKMLPDVLKNC
SIEEIKKLCQEQLELLSEKKILKILEGDNGMDSDMEEEADDGSKMGSDLVSQQDICIDSASSVRENKQPEGLELKQGKGEDSDVLSINAD
AYDSDIEGPCNEEAAAPEAPENTVQSEAGQIDDLEKDIEKSVNEILGLAESSPNEPKAATLAVPPPEDVQPSAQQLELLELEMRARAIKA

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

>13515_13515_3_CCAR1-CAAP1_CCAR1_chr10_70514584_ENST00000543719_CAAP1_chr9_26887511_ENST00000333916_length(amino acids)=731AA_BP=471
MAQFGGQKNPPWATQFTATAVSQPAALGVQQPSLLGASPTIYTQQTALAAAGLTTQTPANYQLTQTAALQQQAAAAAAALQQLQQPQQTL
LTQPAVALPTSLSLSTPQPTAQITVSYPTPRSSQQQTQPQKQRVFTGVVTKLHDTFGFVDEDVFFQLSAVKGKTPQVGDRVLVEATYNPN
MPFKWNAQRIQTLPNQNQSQTQPLLKTPPAVLQPIAPQTTFGVQTQPQPQSLLQAQISAASITPLLQTQPQPLLQQPQQKAGLLQPPVRI
VSQPQPARRLDPPSRFSGRNDRGDQVPNRKDDRSRERERERRRSRERSPQRKRSRERSPRRERERSPRRVRRVVPRYTVQFSKFSLDCPS
CDMMELRRRYQNLYIPSDFFDAQFTWVDAFPLSRPFQLGNYCNFYVMHREVESLEKNMAILDPPDADHLYSAKVMLMASPSMEDLYHKSC
ALAEDPQELRDGFQHPARLVKETKYILPTLEKELFLAEHSDLEEGGLDLTVSLKPVSFYISDKKEMLQQCFCIIGEKKLQKMLPDVLKNC
SIEEIKKLCQEQLELLSEKKILKILEGDNGMDSDMEEEADDGSKMGSDLVSQQDICIDSASSVRENKQPEGLELKQGKGEDSDVLSINAD
AYDSDIEGPCNEEAAAPEAPENTVQSEAGQIDDLEKDIEKSVNEILGLAESSPNEPKAATLAVPPPEDVQPSAQQLELLELEMRARAIKA

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

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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/chr10:70514584/chr9:26887511)
- 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

CAAP1

Q9H8G2

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: Anti-apoptotic protein that modulates a caspase-10 dependent mitochondrial caspase-3/9 feedback amplification loop. {ECO:0000269|PubMed:21980415}.

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
HgeneCCAR1chr10:70514584chr9:26887511ENST00000265872+1225293_361486.01151.0Compositional biasNote=Arg-rich
HgeneCCAR1chr10:70514584chr9:26887511ENST00000265872+122573_79486.01151.0Compositional biasNote=Poly-Ala
HgeneCCAR1chr10:70514584chr9:26887511ENST00000535016+1124293_361471.01136.0Compositional biasNote=Arg-rich
HgeneCCAR1chr10:70514584chr9:26887511ENST00000535016+112473_79471.01136.0Compositional biasNote=Poly-Ala
HgeneCCAR1chr10:70514584chr9:26887511ENST00000543719+1124293_361471.01136.0Compositional biasNote=Arg-rich
HgeneCCAR1chr10:70514584chr9:26887511ENST00000543719+112473_79471.01136.0Compositional biasNote=Poly-Ala
TgeneCAAP1chr10:70514584chr9:26887511ENST0000033391606281_311101.0362.0Coiled coilOntology_term=ECO:0000255
TgeneCAAP1chr10:70514584chr9:26887511ENST0000053543706281_3110217.0Coiled coilOntology_term=ECO:0000255
TgeneCAAP1chr10:70514584chr9:26887511ENST000005354370619_250217.0Compositional biasNote=Poly-Ala

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneCCAR1chr10:70514584chr9:26887511ENST00000265872+12251033_1114486.01151.0Coiled coilOntology_term=ECO:0000255
HgeneCCAR1chr10:70514584chr9:26887511ENST00000265872+1225594_618486.01151.0Coiled coilOntology_term=ECO:0000255
HgeneCCAR1chr10:70514584chr9:26887511ENST00000535016+11241033_1114471.01136.0Coiled coilOntology_term=ECO:0000255
HgeneCCAR1chr10:70514584chr9:26887511ENST00000535016+1124594_618471.01136.0Coiled coilOntology_term=ECO:0000255
HgeneCCAR1chr10:70514584chr9:26887511ENST00000543719+11241033_1114471.01136.0Coiled coilOntology_term=ECO:0000255
HgeneCCAR1chr10:70514584chr9:26887511ENST00000543719+1124594_618471.01136.0Coiled coilOntology_term=ECO:0000255
HgeneCCAR1chr10:70514584chr9:26887511ENST00000265872+1225673_889486.01151.0Compositional biasNote=Glu-rich
HgeneCCAR1chr10:70514584chr9:26887511ENST00000535016+1124673_889471.01136.0Compositional biasNote=Glu-rich
HgeneCCAR1chr10:70514584chr9:26887511ENST00000543719+1124673_889471.01136.0Compositional biasNote=Glu-rich
HgeneCCAR1chr10:70514584chr9:26887511ENST00000265872+1225636_670486.01151.0DomainSAP
HgeneCCAR1chr10:70514584chr9:26887511ENST00000535016+1124636_670471.01136.0DomainSAP
HgeneCCAR1chr10:70514584chr9:26887511ENST00000543719+1124636_670471.01136.0DomainSAP
TgeneCAAP1chr10:70514584chr9:26887511ENST000003339160619_25101.0362.0Compositional biasNote=Poly-Ala


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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
CAAP1


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
HgeneCCAR1chr10:70514584chr9:26887511ENST00000265872+1225643_1150486.01151.0GATA1
HgeneCCAR1chr10:70514584chr9:26887511ENST00000535016+1124643_1150471.01136.0GATA1
HgeneCCAR1chr10:70514584chr9:26887511ENST00000543719+1124643_1150471.01136.0GATA1
HgeneCCAR1chr10:70514584chr9:26887511ENST00000265872+1225203_660486.01151.0GATA2
HgeneCCAR1chr10:70514584chr9:26887511ENST00000535016+1124203_660471.01136.0GATA2
HgeneCCAR1chr10:70514584chr9:26887511ENST00000543719+1124203_660471.01136.0GATA2


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Related Drugs to CCAR1-CAAP1


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-CAAP1


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