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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:DGCR8-COMT (FusionGDB2 ID:22421)

Fusion Gene Summary for DGCR8-COMT

check button Fusion gene summary
Fusion gene informationFusion gene name: DGCR8-COMT
Fusion gene ID: 22421
HgeneTgene
Gene symbol

DGCR8

COMT

Gene ID

54487

1312

Gene nameDGCR8 microprocessor complex subunitcatechol-O-methyltransferase
SynonymsC22orf12|DGCRK6|Gy1|pashaHEL-S-98n
Cytomap

22q11.21

22q11.21

Type of geneprotein-codingprotein-coding
Descriptionmicroprocessor complex subunit DGCR8DiGeorge syndrome critical region 8DiGeorge syndrome critical region gene 8catechol O-methyltransferasecatechol-O-methyltransferase isoformepididymis secretory sperm binding protein Li 98ntesticular tissue protein Li 42
Modification date2020032020200329
UniProtAcc

Q8WYQ5

Q86VU5

Ensembl transtripts involved in fusion geneENST00000351989, ENST00000383024, 
ENST00000407755, 		ENST00000361682, 
ENST00000403184, ENST00000403710, 
ENST00000406520, ENST00000407537, 
ENST00000449653, ENST00000493893, 
Fusion gene scores* DoF score8 X 5 X 8=3206 X 12 X 4=288
# samples 914
** MAII scorelog2(9/320*10)=-1.83007499855769
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(14/288*10)=-1.04064198449735
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: DGCR8 [Title/Abstract] AND COMT [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointDGCR8(20067906)-COMT(19950050), # samples:3
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
HgeneDGCR8

GO:0031053

primary miRNA processing

15531877|15574589|24449907|24910438

TgeneCOMT

GO:0042424

catecholamine catabolic process

15645182|21846718


check buttonFusion gene breakpoints across DGCR8 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

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

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
ChimerDB4BLCATCGA-UY-A78K-01ADGCR8chr22

20067906

-COMTchr22

19950050

+
ChimerDB4BLCATCGA-UY-A78K-01ADGCR8chr22

20067906

+COMTchr22

19950050

+
ChimerDB4BLCATCGA-UY-A78KDGCR8chr22

20067906

+COMTchr22

19950049

+


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Fusion Gene ORF analysis for DGCR8-COMT

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-3CDSENST00000351989ENST00000361682DGCR8chr22

20067906

+COMTchr22

19950050

+
5UTR-3CDSENST00000351989ENST00000361682DGCR8chr22

20067906

+COMTchr22

19950049

+
5UTR-3CDSENST00000351989ENST00000403184DGCR8chr22

20067906

+COMTchr22

19950050

+
5UTR-3CDSENST00000351989ENST00000403184DGCR8chr22

20067906

+COMTchr22

19950049

+
5UTR-3CDSENST00000351989ENST00000403710DGCR8chr22

20067906

+COMTchr22

19950050

+
5UTR-3CDSENST00000351989ENST00000403710DGCR8chr22

20067906

+COMTchr22

19950049

+
5UTR-3CDSENST00000383024ENST00000361682DGCR8chr22

20067906

+COMTchr22

19950050

+
5UTR-3CDSENST00000383024ENST00000361682DGCR8chr22

20067906

+COMTchr22

19950049

+
5UTR-3CDSENST00000383024ENST00000403184DGCR8chr22

20067906

+COMTchr22

19950050

+
5UTR-3CDSENST00000383024ENST00000403184DGCR8chr22

20067906

+COMTchr22

19950049

+
5UTR-3CDSENST00000383024ENST00000403710DGCR8chr22

20067906

+COMTchr22

19950050

+
5UTR-3CDSENST00000383024ENST00000403710DGCR8chr22

20067906

+COMTchr22

19950049

+
5UTR-5UTRENST00000351989ENST00000406520DGCR8chr22

20067906

+COMTchr22

19950050

+
5UTR-5UTRENST00000351989ENST00000406520DGCR8chr22

20067906

+COMTchr22

19950049

+
5UTR-5UTRENST00000351989ENST00000407537DGCR8chr22

20067906

+COMTchr22

19950050

+
5UTR-5UTRENST00000351989ENST00000407537DGCR8chr22

20067906

+COMTchr22

19950049

+
5UTR-5UTRENST00000383024ENST00000406520DGCR8chr22

20067906

+COMTchr22

19950050

+
5UTR-5UTRENST00000383024ENST00000406520DGCR8chr22

20067906

+COMTchr22

19950049

+
5UTR-5UTRENST00000383024ENST00000407537DGCR8chr22

20067906

+COMTchr22

19950050

+
5UTR-5UTRENST00000383024ENST00000407537DGCR8chr22

20067906

+COMTchr22

19950049

+
5UTR-intronENST00000351989ENST00000449653DGCR8chr22

20067906

+COMTchr22

19950050

+
5UTR-intronENST00000351989ENST00000449653DGCR8chr22

20067906

+COMTchr22

19950049

+
5UTR-intronENST00000351989ENST00000493893DGCR8chr22

20067906

+COMTchr22

19950050

+
5UTR-intronENST00000351989ENST00000493893DGCR8chr22

20067906

+COMTchr22

19950049

+
5UTR-intronENST00000383024ENST00000449653DGCR8chr22

20067906

+COMTchr22

19950050

+
5UTR-intronENST00000383024ENST00000449653DGCR8chr22

20067906

+COMTchr22

19950049

+
5UTR-intronENST00000383024ENST00000493893DGCR8chr22

20067906

+COMTchr22

19950050

+
5UTR-intronENST00000383024ENST00000493893DGCR8chr22

20067906

+COMTchr22

19950049

+
intron-3CDSENST00000407755ENST00000361682DGCR8chr22

20067906

+COMTchr22

19950050

+
intron-3CDSENST00000407755ENST00000361682DGCR8chr22

20067906

+COMTchr22

19950049

+
intron-3CDSENST00000407755ENST00000403184DGCR8chr22

20067906

+COMTchr22

19950050

+
intron-3CDSENST00000407755ENST00000403184DGCR8chr22

20067906

+COMTchr22

19950049

+
intron-3CDSENST00000407755ENST00000403710DGCR8chr22

20067906

+COMTchr22

19950050

+
intron-3CDSENST00000407755ENST00000403710DGCR8chr22

20067906

+COMTchr22

19950049

+
intron-5UTRENST00000407755ENST00000406520DGCR8chr22

20067906

+COMTchr22

19950050

+
intron-5UTRENST00000407755ENST00000406520DGCR8chr22

20067906

+COMTchr22

19950049

+
intron-5UTRENST00000407755ENST00000407537DGCR8chr22

20067906

+COMTchr22

19950050

+
intron-5UTRENST00000407755ENST00000407537DGCR8chr22

20067906

+COMTchr22

19950049

+
intron-intronENST00000407755ENST00000449653DGCR8chr22

20067906

+COMTchr22

19950050

+
intron-intronENST00000407755ENST00000449653DGCR8chr22

20067906

+COMTchr22

19950049

+
intron-intronENST00000407755ENST00000493893DGCR8chr22

20067906

+COMTchr22

19950050

+
intron-intronENST00000407755ENST00000493893DGCR8chr22

20067906

+COMTchr22

19950049

+

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 DGCR8-COMT


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)
DGCR8chr2220067906+COMTchr2219950049+4.17E-081
DGCR8chr2220067906+COMTchr2219950049+4.17E-081
DGCR8chr2220067906+COMTchr2219950049+4.17E-081
DGCR8chr2220067906+COMTchr2219950049+4.17E-081

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.

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 DGCR8-COMT


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/:20067906/:19950050)
- 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
DGCR8

Q8WYQ5

COMT

Q86VU5

FUNCTION: Component of the microprocessor complex that acts as a RNA- and heme-binding protein that is involved in the initial step of microRNA (miRNA) biogenesis. Component of the microprocessor complex that is required to process primary miRNA transcripts (pri-miRNAs) to release precursor miRNA (pre-miRNA) in the nucleus. Within the microprocessor complex, DGCR8 function as a molecular anchor necessary for the recognition of pri-miRNA at dsRNA-ssRNA junction and directs DROSHA to cleave 11 bp away form the junction to release hairpin-shaped pre-miRNAs that are subsequently cut by the cytoplasmic DICER to generate mature miRNAs (PubMed:26027739, PubMed:26748718). The heme-bound DGCR8 dimer binds pri-miRNAs as a cooperative trimer (of dimers) and is active in triggering pri-miRNA cleavage, whereas the heme-free DGCR8 monomer binds pri-miRNAs as a dimer and is much less active. Both double-stranded and single-stranded regions of a pri-miRNA are required for its binding (PubMed:15531877, PubMed:15574589, PubMed:15589161, PubMed:16751099, PubMed:16906129, PubMed:16963499, PubMed:17159994). Specifically recognizes and binds N6-methyladenosine (m6A)-containing pri-miRNAs, a modification required for pri-miRNAs processing (PubMed:25799998). Involved in the silencing of embryonic stem cell self-renewal (By similarity). {ECO:0000250|UniProtKB:Q9EQM6, ECO:0000269|PubMed:15531877, ECO:0000269|PubMed:15574589, ECO:0000269|PubMed:15589161, ECO:0000269|PubMed:16751099, ECO:0000269|PubMed:16906129, ECO:0000269|PubMed:16963499, ECO:0000269|PubMed:17159994, ECO:0000269|PubMed:25799998, ECO:0000269|PubMed:26027739, ECO:0000269|PubMed:26748718}.FUNCTION: Putative O-methyltransferase. {ECO:0000305}.

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 DGCR8-COMT


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 DGCR8-COMT


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 DGCR8-COMT


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 DGCR8-COMT


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