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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:C1D-FAM213A (FusionGDB2 ID:HG10438TG84293)

Fusion Gene Summary for C1D-FAM213A

check button Fusion gene summary
Fusion gene informationFusion gene name: C1D-FAM213A
Fusion gene ID: hg10438tg84293
HgeneTgene
Gene symbol

C1D

FAM213A

Gene ID

10438

84293

Gene nameC1D nuclear receptor corepressorperoxiredoxin like 2A
SynonymsLRP1|Rrp47|SUN-CoR|SUNCOR|hC1DAdrx|C10orf58|FAM213A|PAMM
Cytomap('C1D')('FAM213A')

2p14

10q23.1

Type of geneprotein-codingprotein-coding
Descriptionnuclear nucleic acid-binding protein C1DC1D DNA-binding proteinC1D nuclear receptor co-repressornuclear DNA-binding proteinsmall unique nuclear receptor co-repressorsmall unique nuclear receptor corepressorperoxiredoxin-like 2AAdiporedoxinUPF0765 protein C10orf58family with sequence similarity 213 member Aperoxiredoxin (PRX)-like 2 activated in M-CSF stimulated monocytesperoxiredoxin-like 2 activated in M-CSF stimulated monocytesredox-regulatory prote
Modification date2020031320200313
UniProtAcc

Q13901

.
Ensembl transtripts involved in fusion geneENST00000409302, ENST00000410067, 
ENST00000355848, ENST00000407324, 
ENST00000470189, 
Fusion gene scores* DoF score3 X 4 X 3=369 X 10 X 5=450
# samples 313
** MAII scorelog2(3/36*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(13/450*10)=-1.79141337818858
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: C1D [Title/Abstract] AND FAM213A [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointC1D(68290089)-FAM213A(82180221), # samples:1
Anticipated loss of major functional domain due to fusion event.
* 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
TgeneFAM213A

GO:0045670

regulation of osteoclast differentiation

19951071

TgeneFAM213A

GO:0055114

oxidation-reduction process

19951071



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-24-1434C1Dchr2

68290089

-FAM213Achr10

82180221

+


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Fusion Gene ORF analysis for C1D-FAM213A

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
5UTR-5UTRENST00000409302ENST00000372181C1Dchr2

68290089

-FAM213Achr10

82180221

+
5UTR-5UTRENST00000409302ENST00000372187C1Dchr2

68290089

-FAM213Achr10

82180221

+
5UTR-5UTRENST00000409302ENST00000372188C1Dchr2

68290089

-FAM213Achr10

82180221

+
5UTR-5UTRENST00000410067ENST00000372181C1Dchr2

68290089

-FAM213Achr10

82180221

+
5UTR-5UTRENST00000410067ENST00000372187C1Dchr2

68290089

-FAM213Achr10

82180221

+
5UTR-5UTRENST00000410067ENST00000372188C1Dchr2

68290089

-FAM213Achr10

82180221

+
5UTR-intronENST00000409302ENST00000372185C1Dchr2

68290089

-FAM213Achr10

82180221

+
5UTR-intronENST00000410067ENST00000372185C1Dchr2

68290089

-FAM213Achr10

82180221

+
intron-5UTRENST00000355848ENST00000372181C1Dchr2

68290089

-FAM213Achr10

82180221

+
intron-5UTRENST00000355848ENST00000372187C1Dchr2

68290089

-FAM213Achr10

82180221

+
intron-5UTRENST00000355848ENST00000372188C1Dchr2

68290089

-FAM213Achr10

82180221

+
intron-5UTRENST00000407324ENST00000372181C1Dchr2

68290089

-FAM213Achr10

82180221

+
intron-5UTRENST00000407324ENST00000372187C1Dchr2

68290089

-FAM213Achr10

82180221

+
intron-5UTRENST00000407324ENST00000372188C1Dchr2

68290089

-FAM213Achr10

82180221

+
intron-5UTRENST00000470189ENST00000372181C1Dchr2

68290089

-FAM213Achr10

82180221

+
intron-5UTRENST00000470189ENST00000372187C1Dchr2

68290089

-FAM213Achr10

82180221

+
intron-5UTRENST00000470189ENST00000372188C1Dchr2

68290089

-FAM213Achr10

82180221

+
intron-intronENST00000355848ENST00000372185C1Dchr2

68290089

-FAM213Achr10

82180221

+
intron-intronENST00000407324ENST00000372185C1Dchr2

68290089

-FAM213Achr10

82180221

+
intron-intronENST00000470189ENST00000372185C1Dchr2

68290089

-FAM213Achr10

82180221

+

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)

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

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Fusion Genomic Features for C1D-FAM213A


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)
C1Dchr268290089-FAM213Achr1082180221+0.0036808970.99631906
C1Dchr268290089-FAM213Achr1082180221+0.0036808970.99631906


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 C1D-FAM213A


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/:68290089/:82180221)
- 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
C1D

Q13901

.
FUNCTION: Plays a role in the recruitment of the RNA exosome complex to pre-rRNA to mediate the 3'-5' end processing of the 5.8S rRNA; this function may include MPHOSPH6. Can activate PRKDC not only in the presence of linear DNA but also in the presence of supercoiled DNA. Can induce apoptosis in a p53/TP53 dependent manner. May regulate the TRAX/TSN complex formation. Potentiates transcriptional repression by NR1D1 and THRB (By similarity). {ECO:0000250, ECO:0000269|PubMed:10362552, ECO:0000269|PubMed:11801738, ECO:0000269|PubMed:17412707, ECO:0000269|PubMed:9679063}.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

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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Fusion Gene Sequence for C1D-FAM213A


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.

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Fusion Gene PPI Analysis for C1D-FAM213A


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 C1D-FAM213A


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 C1D-FAM213A


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneC1DC0001973Alcoholic Intoxication, Chronic1PSYGENET