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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:DICER1-SAMD4A (FusionGDB2 ID:HG23405TG23034)

Fusion Gene Summary for DICER1-SAMD4A

check button Fusion gene summary
Fusion gene informationFusion gene name: DICER1-SAMD4A
Fusion gene ID: hg23405tg23034
HgeneTgene
Gene symbol

DICER1

SAMD4A

Gene ID

23405

23034

Gene namedicer 1, ribonuclease IIIsterile alpha motif domain containing 4A
SynonymsDCR1|Dicer|Dicer1e|GLOW|HERNA|K12H4.8-LIKE|MNG1|RMSE2SAMD4|SMAUG|SMAUG1|SMG|SMGA
Cytomap('DICER1')('SAMD4A')

14q32.13

14q22.2

Type of geneprotein-codingprotein-coding
Descriptionendoribonuclease DicerDicer1, Dcr-1 homologdicer 1, double-stranded RNA-specific endoribonucleasedicer 1, ribonuclease type IIIhelicase MOIhelicase with RNAse motifprotein Smaug homolog 1SAM domain-containing protein 4A
Modification date2020032920200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000343455, ENST00000393063, 
ENST00000526495, ENST00000527414, 
ENST00000541352, ENST00000527416, 
ENST00000556045, 
Fusion gene scores* DoF score13 X 8 X 10=10405 X 5 X 3=75
# samples 155
** MAII scorelog2(15/1040*10)=-2.79354912253257
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(5/75*10)=-0.584962500721156
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: DICER1 [Title/Abstract] AND SAMD4A [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointDICER1(95596395)-SAMD4A(55034214), # 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
HgeneDICER1

GO:0030422

production of siRNA involved in RNA interference

15973356|17452327|23661684

HgeneDICER1

GO:0031054

pre-miRNA processing

15973356|16357216|18178619|23661684|25549615

HgeneDICER1

GO:0035087

siRNA loading onto RISC involved in RNA interference

15973356

HgeneDICER1

GO:0035196

production of miRNAs involved in gene silencing by miRNA

15973356|23661684

HgeneDICER1

GO:0035280

miRNA loading onto RISC involved in gene silencing by miRNA

18178619

HgeneDICER1

GO:0038061

NIK/NF-kappaB signaling

26435691

HgeneDICER1

GO:0090502

RNA phosphodiester bond hydrolysis, endonucleolytic

21753850|25549615

TgeneSAMD4A

GO:0045727

positive regulation of translation

16221671



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-29-A5NZ-01ADICER1chr14

95596395

-SAMD4Achr14

55034214

+


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Fusion Gene ORF analysis for DICER1-SAMD4A

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-5UTRENST00000343455ENST00000554335DICER1chr14

95596395

-SAMD4Achr14

55034214

+
5CDS-5UTRENST00000393063ENST00000554335DICER1chr14

95596395

-SAMD4Achr14

55034214

+
5CDS-5UTRENST00000526495ENST00000554335DICER1chr14

95596395

-SAMD4Achr14

55034214

+
5CDS-5UTRENST00000527414ENST00000554335DICER1chr14

95596395

-SAMD4Achr14

55034214

+
5CDS-5UTRENST00000541352ENST00000554335DICER1chr14

95596395

-SAMD4Achr14

55034214

+
5CDS-intronENST00000343455ENST00000251091DICER1chr14

95596395

-SAMD4Achr14

55034214

+
5CDS-intronENST00000343455ENST00000357634DICER1chr14

95596395

-SAMD4Achr14

55034214

+
5CDS-intronENST00000343455ENST00000392067DICER1chr14

95596395

-SAMD4Achr14

55034214

+
5CDS-intronENST00000343455ENST00000555112DICER1chr14

95596395

-SAMD4Achr14

55034214

+
5CDS-intronENST00000343455ENST00000555192DICER1chr14

95596395

-SAMD4Achr14

55034214

+
5CDS-intronENST00000393063ENST00000251091DICER1chr14

95596395

-SAMD4Achr14

55034214

+
5CDS-intronENST00000393063ENST00000357634DICER1chr14

95596395

-SAMD4Achr14

55034214

+
5CDS-intronENST00000393063ENST00000392067DICER1chr14

95596395

-SAMD4Achr14

55034214

+
5CDS-intronENST00000393063ENST00000555112DICER1chr14

95596395

-SAMD4Achr14

55034214

+
5CDS-intronENST00000393063ENST00000555192DICER1chr14

95596395

-SAMD4Achr14

55034214

+
5CDS-intronENST00000526495ENST00000251091DICER1chr14

95596395

-SAMD4Achr14

55034214

+
5CDS-intronENST00000526495ENST00000357634DICER1chr14

95596395

-SAMD4Achr14

55034214

+
5CDS-intronENST00000526495ENST00000392067DICER1chr14

95596395

-SAMD4Achr14

55034214

+
5CDS-intronENST00000526495ENST00000555112DICER1chr14

95596395

-SAMD4Achr14

55034214

+
5CDS-intronENST00000526495ENST00000555192DICER1chr14

95596395

-SAMD4Achr14

55034214

+
5CDS-intronENST00000527414ENST00000251091DICER1chr14

95596395

-SAMD4Achr14

55034214

+
5CDS-intronENST00000527414ENST00000357634DICER1chr14

95596395

-SAMD4Achr14

55034214

+
5CDS-intronENST00000527414ENST00000392067DICER1chr14

95596395

-SAMD4Achr14

55034214

+
5CDS-intronENST00000527414ENST00000555112DICER1chr14

95596395

-SAMD4Achr14

55034214

+
5CDS-intronENST00000527414ENST00000555192DICER1chr14

95596395

-SAMD4Achr14

55034214

+
5CDS-intronENST00000541352ENST00000251091DICER1chr14

95596395

-SAMD4Achr14

55034214

+
5CDS-intronENST00000541352ENST00000357634DICER1chr14

95596395

-SAMD4Achr14

55034214

+
5CDS-intronENST00000541352ENST00000392067DICER1chr14

95596395

-SAMD4Achr14

55034214

+
5CDS-intronENST00000541352ENST00000555112DICER1chr14

95596395

-SAMD4Achr14

55034214

+
5CDS-intronENST00000541352ENST00000555192DICER1chr14

95596395

-SAMD4Achr14

55034214

+
intron-5UTRENST00000527416ENST00000554335DICER1chr14

95596395

-SAMD4Achr14

55034214

+
intron-5UTRENST00000556045ENST00000554335DICER1chr14

95596395

-SAMD4Achr14

55034214

+
intron-intronENST00000527416ENST00000251091DICER1chr14

95596395

-SAMD4Achr14

55034214

+
intron-intronENST00000527416ENST00000357634DICER1chr14

95596395

-SAMD4Achr14

55034214

+
intron-intronENST00000527416ENST00000392067DICER1chr14

95596395

-SAMD4Achr14

55034214

+
intron-intronENST00000527416ENST00000555112DICER1chr14

95596395

-SAMD4Achr14

55034214

+
intron-intronENST00000527416ENST00000555192DICER1chr14

95596395

-SAMD4Achr14

55034214

+
intron-intronENST00000556045ENST00000251091DICER1chr14

95596395

-SAMD4Achr14

55034214

+
intron-intronENST00000556045ENST00000357634DICER1chr14

95596395

-SAMD4Achr14

55034214

+
intron-intronENST00000556045ENST00000392067DICER1chr14

95596395

-SAMD4Achr14

55034214

+
intron-intronENST00000556045ENST00000555112DICER1chr14

95596395

-SAMD4Achr14

55034214

+
intron-intronENST00000556045ENST00000555192DICER1chr14

95596395

-SAMD4Achr14

55034214

+

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 DICER1-SAMD4A


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)
DICER1chr1495596394-SAMD4Achr1455034213+0.0095855030.9904145
DICER1chr1495596394-SAMD4Achr1455034213+0.0095855030.9904145


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 DICER1-SAMD4A


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/:95596395/:55034214)
- 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

- 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 DICER1-SAMD4A


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 DICER1-SAMD4A


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 DICER1-SAMD4A


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 DICER1-SAMD4A


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneDICER1C1266144Pleuropulmonary blastoma7CGI;CLINGEN;CTD_human;GENOMICS_ENGLAND;UNIPROT
HgeneDICER1C0003810Sertoli-Leydig cell tumor of ovary4ORPHANET
HgeneDICER1C0018413Gynandroblastoma4ORPHANET
HgeneDICER1C0036769Sertoli Cell Tumor4ORPHANET
HgeneDICER1C0206723Sertoli-Leydig Cell Tumor4ORPHANET
HgeneDICER1C0334401Malignant Granulosa Cell Tumor4ORPHANET
HgeneDICER1C1567257Granulosa Cell Cancer4ORPHANET
HgeneDICER1C0036341Schizophrenia2PSYGENET
HgeneDICER1C0302859Euthyroid Goiter2CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
HgeneDICER1C0014175Endometriosis1CTD_human
HgeneDICER1C0023903Liver neoplasms1CTD_human
HgeneDICER1C0027708Nephroblastoma1CGI;CTD_human
HgeneDICER1C0028960Oligospermia1CTD_human
HgeneDICER1C0269102Endometrioma1CTD_human
HgeneDICER1C0345904Malignant neoplasm of liver1CTD_human
HgeneDICER1C1867234Rhabdomyosarcoma, Embryonal, 21CTD_human;GENOMICS_ENGLAND
HgeneDICER1C2930471Bilateral Wilms Tumor1CTD_human
HgeneDICER1C3839822DICER1 syndrome1GENOMICS_ENGLAND
HgeneDICER1C4748924GLOBAL DEVELOPMENTAL DELAY, LUNG CYSTS, OVERGROWTH, AND WILMS TUMOR1ORPHANET;UNIPROT
TgeneC0013146Drug abuse1CTD_human
TgeneC0013170Drug habituation1CTD_human
TgeneC0013222Drug Use Disorders1CTD_human
TgeneC0029231Organic Mental Disorders, Substance-Induced1CTD_human
TgeneC0038580Substance Dependence1CTD_human
TgeneC0038586Substance Use Disorders1CTD_human
TgeneC0236969Substance-Related Disorders1CTD_human
TgeneC0740858Substance abuse problem1CTD_human
TgeneC1510472Drug Dependence1CTD_human
TgeneC4316881Prescription Drug Abuse1CTD_human