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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:HG54487TG1312)

Fusion Gene Summary for DGCR8-COMT

check button Fusion gene summary
Fusion gene informationFusion gene name: DGCR8-COMT
Fusion gene ID: hg54487tg1312
HgeneTgene
Gene symbol

DGCR8

COMT

Gene ID

54487

1312

Gene nameDGCR8 microprocessor complex subunitcatechol-O-methyltransferase
SynonymsC22orf12|DGCRK6|Gy1|pashaHEL-S-98n
Cytomap('DGCR8')('COMT')

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.

P21964

Ensembl transtripts involved in fusion geneENST00000351989, ENST00000383024, 
ENST00000407755, 
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 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
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 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
.COMT

P21964

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: Catalyzes the O-methylation, and thereby the inactivation, of catecholamine neurotransmitters and catechol hormones. Also shortens the biological half-lives of certain neuroactive drugs, like L-DOPA, alpha-methyl DOPA and isoproterenol. {ECO:0000269|PubMed:11559542, ECO:0000269|PubMed:21846718}.

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
TgeneCOMTP21964DB00494EntacaponeInhibitorSmall moleculeApproved|Investigational
TgeneCOMTP21964DB11632OpicaponeAntagonistSmall moleculeApproved|Investigational
TgeneCOMTP21964DB00118AdemetionineCofactorSmall moleculeApproved|Investigational|Nutraceutical
TgeneCOMTP21964DB00323TolcaponeInhibitorSmall moleculeApproved|Withdrawn
TgeneCOMTP21964DB04820NialamideSmall moleculeApproved|Withdrawn

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Related Diseases for DGCR8-COMT


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneDGCR8C0036341Schizophrenia3PSYGENET
HgeneDGCR8C0004930Behavior Disorders1CTD_human
HgeneDGCR8C0004936Mental disorders1CTD_human
HgeneDGCR8C0027708Nephroblastoma1CTD_human
HgeneDGCR8C0033975Psychotic Disorders1PSYGENET
HgeneDGCR8C0349204Nonorganic psychosis1PSYGENET
HgeneDGCR8C0376338Diagnosis, Psychiatric1CTD_human
HgeneDGCR8C2930471Bilateral Wilms Tumor1CTD_human
HgeneDGCR8C4046029Mental Disorders, Severe1CTD_human
TgeneC0005586Bipolar Disorder6CTD_human;PSYGENET
TgeneC0001723Affective Disorders, Psychotic5PSYGENET
TgeneC0011570Mental Depression5PSYGENET
TgeneC0011581Depressive disorder5PSYGENET
TgeneC0041696Unipolar Depression5PSYGENET
TgeneC0525045Mood Disorders5PSYGENET
TgeneC1269683Major Depressive Disorder5PSYGENET
TgeneC0036341Schizophrenia4CTD_human
TgeneC0005587Depression, Bipolar3CTD_human;PSYGENET
TgeneC0006142Malignant neoplasm of breast3CTD_human
TgeneC0024809Marijuana Abuse3PSYGENET
TgeneC0600427Cocaine Dependence3CTD_human;PSYGENET
TgeneC0678222Breast Carcinoma3CTD_human
TgeneC1257931Mammary Neoplasms, Human3CTD_human
TgeneC1458155Mammary Neoplasms3CTD_human
TgeneC4704874Mammary Carcinoma, Human3CTD_human
TgeneC0233477Dysphoric mood2PSYGENET
TgeneC3160814Cannabis use2PSYGENET
TgeneC0001956Alcohol Use Disorder1CTD_human
TgeneC0001973Alcoholic Intoxication, Chronic1CTD_human
TgeneC0004352Autistic Disorder1CTD_human
TgeneC0004930Behavior Disorders1CTD_human
TgeneC0004936Mental disorders1CTD_human
TgeneC0009171Cocaine Abuse1CTD_human
TgeneC0009241Cognition Disorders1CTD_human
TgeneC0012236DiGeorge Syndrome1CTD_human;ORPHANET
TgeneC0015934Fetal Growth Retardation1CTD_human
TgeneC0020429Hyperalgesia1CTD_human
TgeneC0024667Animal Mammary Neoplasms1CTD_human
TgeneC0024713Manic Disorder1CTD_human
TgeneC0025261Memory Disorders1CTD_human
TgeneC0026858Musculoskeletal Pain1CTD_human
TgeneC0030193Pain1CTD_human
TgeneC0031511Pheochromocytoma1CTD_human
TgeneC0033578Prostatic Neoplasms1CTD_human
TgeneC0039494Temporomandibular Joint Disorders1CTD_human
TgeneC0041671Attention Deficit Disorder1CTD_human
TgeneC0085762Alcohol abuse1CTD_human
TgeneC0086133Depressive Syndrome1PSYGENET
TgeneC0178417Anhedonia1PSYGENET
TgeneC0220704Shprintzen syndrome1CTD_human;ORPHANET
TgeneC0233794Memory impairment1CTD_human
TgeneC0234230Pain, Burning1CTD_human
TgeneC0234238Ache1CTD_human
TgeneC0234254Radiating pain1CTD_human
TgeneC0236733Amphetamine-Related Disorders1CTD_human
TgeneC0236736Cocaine-Related Disorders1CTD_human
TgeneC0236804Amphetamine Addiction1CTD_human
TgeneC0236807Amphetamine Abuse1CTD_human
TgeneC0338831Manic1CTD_human
TgeneC0376338Diagnosis, Psychiatric1CTD_human
TgeneC0376358Malignant neoplasm of prostate1CTD_human
TgeneC0458247Allodynia1CTD_human
TgeneC0458257Pain, Splitting1CTD_human
TgeneC0458259Pain, Crushing1CTD_human
TgeneC0525046Schizophrenia Spectrum and Other Psychotic Disorders1CTD_human
TgeneC0751211Hyperalgesia, Primary1CTD_human
TgeneC0751212Hyperalgesia, Secondary1CTD_human
TgeneC0751213Tactile Allodynia1CTD_human
TgeneC0751214Hyperalgesia, Thermal1CTD_human
TgeneC0751292Age-Related Memory Disorders1CTD_human
TgeneC0751293Memory Disorder, Semantic1CTD_human
TgeneC0751294Memory Disorder, Spatial1CTD_human
TgeneC0751295Memory Loss1CTD_human
TgeneC0751407Pain, Migratory1CTD_human
TgeneC0751408Suffering, Physical1CTD_human
TgeneC0795907CONOTRUNCAL ANOMALY FACE SYNDROME1CTD_human;ORPHANET
TgeneC1257877Pheochromocytoma, Extra-Adrenal1CTD_human
TgeneC1257925Mammary Carcinoma, Animal1CTD_human
TgeneC1263846Attention deficit hyperactivity disorder1CTD_human
TgeneC1306067Drug-induced paranoid state1PSYGENET
TgeneC1321905Minimal Brain Dysfunction1CTD_human
TgeneC2239176Liver carcinoma1CTD_human
TgeneC2750088HEARING LOSS, CISPLATIN-INDUCED, SUSCEPTIBILITY TO1CTD_human
TgeneC2936719Mechanical Allodynia1CTD_human
TgeneC3888239HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 11GENOMICS_ENGLAND
TgeneC4046029Mental Disorders, Severe1CTD_human