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Center for Computational Systems Medicine
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Fusion Gene Summary

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Fusion Gene ORF analysis

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Fusion Genomic Features

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Fusion Protein Features

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Fusion Gene Sequence

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Fusion Gene PPI analysis

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Related Drugs

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Related Diseases

Fusion gene:CARD10-POLR2F (FusionGDB2 ID:HG29775TG5435)

Fusion Gene Summary for CARD10-POLR2F

check button Fusion gene summary
Fusion gene informationFusion gene name: CARD10-POLR2F
Fusion gene ID: hg29775tg5435
HgeneTgene
Gene symbol

CARD10

POLR2F

Gene ID

29775

5435

Gene namecaspase recruitment domain family member 10RNA polymerase II subunit F
SynonymsBIMP1|CARMA3HRBP14.4|POLRF|RPABC14.4|RPABC2|RPB14.4|RPB6|RPC15
Cytomap('CARD10')('POLR2F')

22q13.1

22q13.1

Type of geneprotein-codingprotein-coding
Descriptioncaspase recruitment domain-containing protein 10Bcl10 binding protein and activator of NFKBCARD-containing MAGUK 3 proteinCARD-containing MAGUK protein 3carma 3DNA-directed RNA polymerases I, II, and III subunit RPABC2DNA-directed RNA polymerase II subunit FDNA-directed RNA polymerases I, II, and III 14.4 kDa polypeptideRNA Polymerase II subunit 14.4 kDRNA polymerases I, II, and III subunit ABC2polymerase (
Modification date2020031320200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000251973, ENST00000403299, 
ENST00000406271, ENST00000494166, 
Fusion gene scores* DoF score4 X 4 X 3=487 X 6 X 4=168
# samples 58
** MAII scorelog2(5/48*10)=0.0588936890535686
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(8/168*10)=-1.0703893278914
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: CARD10 [Title/Abstract] AND POLR2F [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointCARD10(37911980)-POLR2F(38437075), # samples:2
Anticipated loss of major functional domain due to fusion event.CARD10-POLR2F 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.
CARD10-POLR2F 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.
CARD10-POLR2F 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.
CARD10-POLR2F 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.
CARD10-POLR2F seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
CARD10-POLR2F seems lost the major protein functional domain in Tgene partner, which is a cell metabolism gene due to the frame-shifted ORF.
CARD10-POLR2F seems lost the major protein functional domain in Tgene partner, which is a essential gene due to the frame-shifted 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
HgeneCARD10

GO:0007250

activation of NF-kappaB-inducing kinase activity

11259443

TgenePOLR2F

GO:0006366

transcription by RNA polymerase II

9852112


check buttonFusion gene breakpoints across CARD10 (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 POLR2F (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

check button Fusion gene information
* 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
ChimerDB4OVTCGA-04-1356-01ACARD10chr22

37911980

-POLR2Fchr22

38437075

+


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Fusion Gene ORF analysis for CARD10-POLR2F

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
5CDS-3UTRENST00000251973ENST00000608713CARD10chr22

37911980

-POLR2Fchr22

38437075

+
5CDS-3UTRENST00000403299ENST00000608713CARD10chr22

37911980

-POLR2Fchr22

38437075

+
5CDS-intronENST00000251973ENST00000405557CARD10chr22

37911980

-POLR2Fchr22

38437075

+
5CDS-intronENST00000251973ENST00000442738CARD10chr22

37911980

-POLR2Fchr22

38437075

+
5CDS-intronENST00000251973ENST00000460648CARD10chr22

37911980

-POLR2Fchr22

38437075

+
5CDS-intronENST00000251973ENST00000470701CARD10chr22

37911980

-POLR2Fchr22

38437075

+
5CDS-intronENST00000251973ENST00000488684CARD10chr22

37911980

-POLR2Fchr22

38437075

+
5CDS-intronENST00000251973ENST00000606538CARD10chr22

37911980

-POLR2Fchr22

38437075

+
5CDS-intronENST00000403299ENST00000405557CARD10chr22

37911980

-POLR2Fchr22

38437075

+
5CDS-intronENST00000403299ENST00000442738CARD10chr22

37911980

-POLR2Fchr22

38437075

+
5CDS-intronENST00000403299ENST00000460648CARD10chr22

37911980

-POLR2Fchr22

38437075

+
5CDS-intronENST00000403299ENST00000470701CARD10chr22

37911980

-POLR2Fchr22

38437075

+
5CDS-intronENST00000403299ENST00000488684CARD10chr22

37911980

-POLR2Fchr22

38437075

+
5CDS-intronENST00000403299ENST00000606538CARD10chr22

37911980

-POLR2Fchr22

38437075

+
Frame-shiftENST00000251973ENST00000407936CARD10chr22

37911980

-POLR2Fchr22

38437075

+
In-frameENST00000403299ENST00000407936CARD10chr22

37911980

-POLR2Fchr22

38437075

+
intron-3CDSENST00000406271ENST00000407936CARD10chr22

37911980

-POLR2Fchr22

38437075

+
intron-3CDSENST00000494166ENST00000407936CARD10chr22

37911980

-POLR2Fchr22

38437075

+
intron-3UTRENST00000406271ENST00000608713CARD10chr22

37911980

-POLR2Fchr22

38437075

+
intron-3UTRENST00000494166ENST00000608713CARD10chr22

37911980

-POLR2Fchr22

38437075

+
intron-intronENST00000406271ENST00000405557CARD10chr22

37911980

-POLR2Fchr22

38437075

+
intron-intronENST00000406271ENST00000442738CARD10chr22

37911980

-POLR2Fchr22

38437075

+
intron-intronENST00000406271ENST00000460648CARD10chr22

37911980

-POLR2Fchr22

38437075

+
intron-intronENST00000406271ENST00000470701CARD10chr22

37911980

-POLR2Fchr22

38437075

+
intron-intronENST00000406271ENST00000488684CARD10chr22

37911980

-POLR2Fchr22

38437075

+
intron-intronENST00000406271ENST00000606538CARD10chr22

37911980

-POLR2Fchr22

38437075

+
intron-intronENST00000494166ENST00000405557CARD10chr22

37911980

-POLR2Fchr22

38437075

+
intron-intronENST00000494166ENST00000442738CARD10chr22

37911980

-POLR2Fchr22

38437075

+
intron-intronENST00000494166ENST00000460648CARD10chr22

37911980

-POLR2Fchr22

38437075

+
intron-intronENST00000494166ENST00000470701CARD10chr22

37911980

-POLR2Fchr22

38437075

+
intron-intronENST00000494166ENST00000488684CARD10chr22

37911980

-POLR2Fchr22

38437075

+
intron-intronENST00000494166ENST00000606538CARD10chr22

37911980

-POLR2Fchr22

38437075

+

check buttonORFfinder result based on the fusion transcript sequence of in-frame fusion genes.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)
BP loci
(transcript)
Predicted start
(transcript)
Predicted stop
(transcript)
Seq length
(amino acids)
ENST00000403299CARD10chr2237911980-ENST00000407936POLR2Fchr2238437075+9559169301310

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
ENST00000403299ENST00000407936CARD10chr2237911980-POLR2Fchr2238437075+0.487072080.51292795

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Fusion Genomic Features for CARD10-POLR2F


check buttonFusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints.
HgeneHchrHbpHstrandTgeneTchrTbpTstrand1-pp (fusion gene breakpoint)
CARD10chr2237911979-POLR2Fchr2238437074+0.0040893820.99591064
CARD10chr2237911979-POLR2Fchr2238437074+0.0040893820.99591064

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page.
genomic feature

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page.
genomic feature of top 1%

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Fusion Protein Features for CARD10-POLR2F


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/chr22:37911980/chr22:38437075)
- 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
..
FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.

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
HgeneCARD10chr22:37911980chr22:38437075ENST00000251973-32023_1152331033.0DomainCARD
HgeneCARD10chr22:37911980chr22:38437075ENST00000403299-42123_1152331033.0DomainCARD

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneCARD10chr22:37911980chr22:38437075ENST00000251973-320138_4562331033.0Coiled coilOntology_term=ECO:0000255
HgeneCARD10chr22:37911980chr22:38437075ENST00000403299-421138_4562331033.0Coiled coilOntology_term=ECO:0000255
HgeneCARD10chr22:37911980chr22:38437075ENST00000251973-320567_5742331033.0Compositional biasNote=Poly-Ser
HgeneCARD10chr22:37911980chr22:38437075ENST00000403299-421567_5742331033.0Compositional biasNote=Poly-Ser


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Fusion Gene Sequence for CARD10-POLR2F


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones.
>13019_13019_1_CARD10-POLR2F_CARD10_chr22_37911980_ENST00000403299_POLR2F_chr22_38437075_ENST00000407936_length(transcript)=955nt_BP=916nt
GGCGTGCAGACGGACGCGCGGGGTGGCCGGGGGCCGGACGCACGACCCGGGGCGGGCGGCAATGTGGGGAGGCCCGGGCAGCCCAGGAGG
CTGCGGGGACGGGGGCGGAGCCGGGGGCGCCACGGGCACCGCCCCCCTGCGCCGGCGGAGCCGCCGCCCGAGTGCGGACCCGGGAGCCCG
AGGCGACTGTAGCGTGCGGGACCCTGAGGACACGGCCATGCCGGGCCGGGCGGAGGCGGGGGAGGCCGAGGAGGAGGCCGGGGCCGGCTC
GGGGTCTGAGGCGGAGGAGGACGCGCTGTGGGAGCGAATCGAGGGCGTCCGGCATCGGCTGGCTCGCGCCCTGAACCCGGCCAAGCTCAC
GCCGTATCTGCGCCAGTGCCGGGTCATCGACGAGCAGGACGAGGAGGAGGTGCTGAGCACCTACCGCTTCCCGTGCCGCGTCAACCGCAC
CGGGCGCCTGATGGACATCTTGCGCTGCCGTGGCAAGAGGGGCTATGAGGCCTTCCTGGAAGCCCTGGAGTTCTACTACCCCGAACACTT
CACGCTGCTCACGGGCCAGGAACCCGCCCAGCGCTGCTCCATGATCCTCGATGAGGAGGGGCCTGAGGGCCTGACCCAATTCTTGATGAC
AGAGGTGCGACGGCTGCGGGAAGCTCGCAAGAGCCAGCTGCAGCGGGAGCAGCAACTGCAGGCCCGGGGCCGGGTGCTCGAGGAGGAGCG
GGCAGGGCTGGAGCAGCGGCTGCGGGACCAGCAGCAGGCTCAGGAGCGCTGTCAACGGCTGCGGGAGGACTGGGAGGCGGGCAGCCTGGA
GCTGCTGCGGCTCAAGGATGAGAACTACATGATCGCCATGCGCCTGGCACAGCTCAGTGAGGAGAAGAACTCGGCTGTACTTCGCAGCCG

>13019_13019_1_CARD10-POLR2F_CARD10_chr22_37911980_ENST00000403299_POLR2F_chr22_38437075_ENST00000407936_length(amino acids)=310AA_BP=
MSRRLRQLQVTAAKYSRVLLLTELCQAHGDHVVLILEPQQLQAARLPVLPQPLTALLSLLLVPQPLLQPCPLLLEHPAPGLQLLLPLQLA
LASFPQPSHLCHQELGQALRPLLIEDHGAALGGFLAREQREVFGVVELQGFQEGLIAPLATAAQDVHQAPGAVDAAREAVGAQHLLLVLL
VDDPALAQIRRELGRVQGASQPMPDALDSLPQRVLLRLRPRAGPGLLLGLPRLRPARHGRVLRVPHATVASGSRVRTRAAAPPAQGGGAR

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

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Fusion Gene PPI Analysis for CARD10-POLR2F


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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Related Drugs for CARD10-POLR2F


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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Related Diseases for CARD10-POLR2F


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