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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:DPM3-MUC1 (FusionGDB2 ID:HG54344TG4582)

Fusion Gene Summary for DPM3-MUC1

check button Fusion gene summary
Fusion gene informationFusion gene name: DPM3-MUC1
Fusion gene ID: hg54344tg4582
HgeneTgene
Gene symbol

DPM3

MUC1

Gene ID

54344

4582

Gene namedolichyl-phosphate mannosyltransferase subunit 3, regulatorymucin 1, cell surface associated
SynonymsCDG1OADMCKD|ADMCKD1|CA 15-3|CD227|EMA|H23AG|KL-6|MAM6|MCD|MCKD|MCKD1|MUC-1|MUC-1/SEC|MUC-1/X|MUC1/ZD|PEM|PEMT|PUM
Cytomap('DPM3')('MUC1')

1q22

1q22

Type of geneprotein-codingprotein-coding
Descriptiondolichol-phosphate mannosyltransferase subunit 3DPM synthase complex subunit 3DPM synthase subunit 3MPD synthase subunit 3dolichol-phosphate mannose synthase subunit 3dolichyl-phosphate beta-D-mannosyltransferase subunit 3dolichyl-phosphate mannosylmucin-1H23 antigenbreast carcinoma-associated antigen DF3cancer antigen 15-3carcinoma-associated mucinepisialinkrebs von den Lungen-6mucin 1, transmembranepeanut-reactive urinary mucinpolymorphic epithelial mucintumor associated epithelial mucin
Modification date2020031320200327
UniProtAcc

Q9P2X0

.
Ensembl transtripts involved in fusion geneENST00000341298, ENST00000368400, 
ENST00000368399, 
Fusion gene scores* DoF score4 X 3 X 4=488 X 10 X 5=400
# samples 510
** MAII scorelog2(5/48*10)=0.0588936890535686
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(10/400*10)=-2
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: DPM3 [Title/Abstract] AND MUC1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointDPM3(155112966)-MUC1(155158685), # samples:1
DPM3(155112967)-MUC1(155158685), # 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
HgeneDPM3

GO:0006506

GPI anchor biosynthetic process

10835346

TgeneMUC1

GO:0006977

DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest

15710329

TgeneMUC1

GO:0006978

DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator

15710329

TgeneMUC1

GO:0010944

negative regulation of transcription by competitive promoter binding

15710329

TgeneMUC1

GO:0033629

negative regulation of cell adhesion mediated by integrin

7698991

TgeneMUC1

GO:0036003

positive regulation of transcription from RNA polymerase II promoter in response to stress

15710329

TgeneMUC1

GO:0043618

regulation of transcription from RNA polymerase II promoter in response to stress

15710329

TgeneMUC1

GO:0090240

positive regulation of histone H4 acetylation

15710329

TgeneMUC1

GO:1902166

negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator

15710329



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
ChimerDB4UCSTCGA-N9-A4Q7DPM3chr1

155112966

-MUC1chr1

155158685

-
ChimerDB4UCSTCGA-N9-A4Q7DPM3chr1

155112967

-MUC1chr1

155158685

-


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Fusion Gene ORF analysis for DPM3-MUC1

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-3CDSENST00000341298ENST00000338684DPM3chr1

155112966

-MUC1chr1

155158685

-
5UTR-3CDSENST00000341298ENST00000338684DPM3chr1

155112967

-MUC1chr1

155158685

-
5UTR-3CDSENST00000341298ENST00000368395DPM3chr1

155112966

-MUC1chr1

155158685

-
5UTR-3CDSENST00000341298ENST00000368395DPM3chr1

155112967

-MUC1chr1

155158685

-
5UTR-3CDSENST00000341298ENST00000438413DPM3chr1

155112966

-MUC1chr1

155158685

-
5UTR-3CDSENST00000341298ENST00000438413DPM3chr1

155112967

-MUC1chr1

155158685

-
5UTR-3CDSENST00000368400ENST00000338684DPM3chr1

155112966

-MUC1chr1

155158685

-
5UTR-3CDSENST00000368400ENST00000338684DPM3chr1

155112967

-MUC1chr1

155158685

-
5UTR-3CDSENST00000368400ENST00000368395DPM3chr1

155112966

-MUC1chr1

155158685

-
5UTR-3CDSENST00000368400ENST00000368395DPM3chr1

155112967

-MUC1chr1

155158685

-
5UTR-3CDSENST00000368400ENST00000438413DPM3chr1

155112966

-MUC1chr1

155158685

-
5UTR-3CDSENST00000368400ENST00000438413DPM3chr1

155112967

-MUC1chr1

155158685

-
5UTR-3UTRENST00000341298ENST00000337604DPM3chr1

155112966

-MUC1chr1

155158685

-
5UTR-3UTRENST00000341298ENST00000337604DPM3chr1

155112967

-MUC1chr1

155158685

-
5UTR-3UTRENST00000341298ENST00000342482DPM3chr1

155112966

-MUC1chr1

155158685

-
5UTR-3UTRENST00000341298ENST00000342482DPM3chr1

155112967

-MUC1chr1

155158685

-
5UTR-3UTRENST00000341298ENST00000343256DPM3chr1

155112966

-MUC1chr1

155158685

-
5UTR-3UTRENST00000341298ENST00000343256DPM3chr1

155112967

-MUC1chr1

155158685

-
5UTR-3UTRENST00000341298ENST00000368389DPM3chr1

155112966

-MUC1chr1

155158685

-
5UTR-3UTRENST00000341298ENST00000368389DPM3chr1

155112967

-MUC1chr1

155158685

-
5UTR-3UTRENST00000341298ENST00000368390DPM3chr1

155112966

-MUC1chr1

155158685

-
5UTR-3UTRENST00000341298ENST00000368390DPM3chr1

155112967

-MUC1chr1

155158685

-
5UTR-3UTRENST00000341298ENST00000368393DPM3chr1

155112966

-MUC1chr1

155158685

-
5UTR-3UTRENST00000341298ENST00000368393DPM3chr1

155112967

-MUC1chr1

155158685

-
5UTR-3UTRENST00000341298ENST00000368396DPM3chr1

155112966

-MUC1chr1

155158685

-
5UTR-3UTRENST00000341298ENST00000368396DPM3chr1

155112967

-MUC1chr1

155158685

-
5UTR-3UTRENST00000341298ENST00000368398DPM3chr1

155112966

-MUC1chr1

155158685

-
5UTR-3UTRENST00000341298ENST00000368398DPM3chr1

155112967

-MUC1chr1

155158685

-
5UTR-3UTRENST00000341298ENST00000457295DPM3chr1

155112966

-MUC1chr1

155158685

-
5UTR-3UTRENST00000341298ENST00000457295DPM3chr1

155112967

-MUC1chr1

155158685

-
5UTR-3UTRENST00000368400ENST00000337604DPM3chr1

155112966

-MUC1chr1

155158685

-
5UTR-3UTRENST00000368400ENST00000337604DPM3chr1

155112967

-MUC1chr1

155158685

-
5UTR-3UTRENST00000368400ENST00000342482DPM3chr1

155112966

-MUC1chr1

155158685

-
5UTR-3UTRENST00000368400ENST00000342482DPM3chr1

155112967

-MUC1chr1

155158685

-
5UTR-3UTRENST00000368400ENST00000343256DPM3chr1

155112966

-MUC1chr1

155158685

-
5UTR-3UTRENST00000368400ENST00000343256DPM3chr1

155112967

-MUC1chr1

155158685

-
5UTR-3UTRENST00000368400ENST00000368389DPM3chr1

155112966

-MUC1chr1

155158685

-
5UTR-3UTRENST00000368400ENST00000368389DPM3chr1

155112967

-MUC1chr1

155158685

-
5UTR-3UTRENST00000368400ENST00000368390DPM3chr1

155112966

-MUC1chr1

155158685

-
5UTR-3UTRENST00000368400ENST00000368390DPM3chr1

155112967

-MUC1chr1

155158685

-
5UTR-3UTRENST00000368400ENST00000368393DPM3chr1

155112966

-MUC1chr1

155158685

-
5UTR-3UTRENST00000368400ENST00000368393DPM3chr1

155112967

-MUC1chr1

155158685

-
5UTR-3UTRENST00000368400ENST00000368396DPM3chr1

155112966

-MUC1chr1

155158685

-
5UTR-3UTRENST00000368400ENST00000368396DPM3chr1

155112967

-MUC1chr1

155158685

-
5UTR-3UTRENST00000368400ENST00000368398DPM3chr1

155112966

-MUC1chr1

155158685

-
5UTR-3UTRENST00000368400ENST00000368398DPM3chr1

155112967

-MUC1chr1

155158685

-
5UTR-3UTRENST00000368400ENST00000457295DPM3chr1

155112966

-MUC1chr1

155158685

-
5UTR-3UTRENST00000368400ENST00000457295DPM3chr1

155112967

-MUC1chr1

155158685

-
5UTR-5UTRENST00000341298ENST00000368392DPM3chr1

155112966

-MUC1chr1

155158685

-
5UTR-5UTRENST00000341298ENST00000368392DPM3chr1

155112967

-MUC1chr1

155158685

-
5UTR-5UTRENST00000341298ENST00000462215DPM3chr1

155112966

-MUC1chr1

155158685

-
5UTR-5UTRENST00000341298ENST00000462215DPM3chr1

155112967

-MUC1chr1

155158685

-
5UTR-5UTRENST00000368400ENST00000368392DPM3chr1

155112966

-MUC1chr1

155158685

-
5UTR-5UTRENST00000368400ENST00000368392DPM3chr1

155112967

-MUC1chr1

155158685

-
5UTR-5UTRENST00000368400ENST00000462215DPM3chr1

155112966

-MUC1chr1

155158685

-
5UTR-5UTRENST00000368400ENST00000462215DPM3chr1

155112967

-MUC1chr1

155158685

-
intron-3CDSENST00000368399ENST00000338684DPM3chr1

155112966

-MUC1chr1

155158685

-
intron-3CDSENST00000368399ENST00000338684DPM3chr1

155112967

-MUC1chr1

155158685

-
intron-3CDSENST00000368399ENST00000368395DPM3chr1

155112966

-MUC1chr1

155158685

-
intron-3CDSENST00000368399ENST00000368395DPM3chr1

155112967

-MUC1chr1

155158685

-
intron-3CDSENST00000368399ENST00000438413DPM3chr1

155112966

-MUC1chr1

155158685

-
intron-3CDSENST00000368399ENST00000438413DPM3chr1

155112967

-MUC1chr1

155158685

-
intron-3UTRENST00000368399ENST00000337604DPM3chr1

155112966

-MUC1chr1

155158685

-
intron-3UTRENST00000368399ENST00000337604DPM3chr1

155112967

-MUC1chr1

155158685

-
intron-3UTRENST00000368399ENST00000342482DPM3chr1

155112966

-MUC1chr1

155158685

-
intron-3UTRENST00000368399ENST00000342482DPM3chr1

155112967

-MUC1chr1

155158685

-
intron-3UTRENST00000368399ENST00000343256DPM3chr1

155112966

-MUC1chr1

155158685

-
intron-3UTRENST00000368399ENST00000343256DPM3chr1

155112967

-MUC1chr1

155158685

-
intron-3UTRENST00000368399ENST00000368389DPM3chr1

155112966

-MUC1chr1

155158685

-
intron-3UTRENST00000368399ENST00000368389DPM3chr1

155112967

-MUC1chr1

155158685

-
intron-3UTRENST00000368399ENST00000368390DPM3chr1

155112966

-MUC1chr1

155158685

-
intron-3UTRENST00000368399ENST00000368390DPM3chr1

155112967

-MUC1chr1

155158685

-
intron-3UTRENST00000368399ENST00000368393DPM3chr1

155112966

-MUC1chr1

155158685

-
intron-3UTRENST00000368399ENST00000368393DPM3chr1

155112967

-MUC1chr1

155158685

-
intron-3UTRENST00000368399ENST00000368396DPM3chr1

155112966

-MUC1chr1

155158685

-
intron-3UTRENST00000368399ENST00000368396DPM3chr1

155112967

-MUC1chr1

155158685

-
intron-3UTRENST00000368399ENST00000368398DPM3chr1

155112966

-MUC1chr1

155158685

-
intron-3UTRENST00000368399ENST00000368398DPM3chr1

155112967

-MUC1chr1

155158685

-
intron-3UTRENST00000368399ENST00000457295DPM3chr1

155112966

-MUC1chr1

155158685

-
intron-3UTRENST00000368399ENST00000457295DPM3chr1

155112967

-MUC1chr1

155158685

-
intron-5UTRENST00000368399ENST00000368392DPM3chr1

155112966

-MUC1chr1

155158685

-
intron-5UTRENST00000368399ENST00000368392DPM3chr1

155112967

-MUC1chr1

155158685

-
intron-5UTRENST00000368399ENST00000462215DPM3chr1

155112966

-MUC1chr1

155158685

-
intron-5UTRENST00000368399ENST00000462215DPM3chr1

155112967

-MUC1chr1

155158685

-

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 DPM3-MUC1


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)


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Fusion Protein Features for DPM3-MUC1


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/:155112966/:155158685)
- 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
DPM3

Q9P2X0

.
FUNCTION: Stabilizer subunit of the dolichol-phosphate mannose (DPM) synthase complex; tethers catalytic subunit DPM1 to the ER. {ECO:0000269|PubMed:10835346}.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 DPM3-MUC1


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 DPM3-MUC1


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 DPM3-MUC1


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 DPM3-MUC1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneDPM3C2752007Congenital Disorder of Glycosylation, Type Io3CTD_human;GENOMICS_ENGLAND;UNIPROT
HgeneDPM3C0686353Muscular Dystrophies, Limb-Girdle1GENOMICS_ENGLAND
HgeneDPM3C4510743Carbohydrate deficient glycoprotein syndrome type 1o1GENOMICS_ENGLAND
TgeneC1868139Medullary cystic kidney disease 14CTD_human;GENOMICS_ENGLAND;ORPHANET
TgeneC0007621Neoplastic Cell Transformation1CTD_human
TgeneC0024623Malignant neoplasm of stomach1CTD_human
TgeneC0025500Mesothelioma1CTD_human
TgeneC0026764Multiple Myeloma1CTD_human
TgeneC0031149Peritoneal Neoplasms1CTD_human
TgeneC0032927Precancerous Conditions1CTD_human
TgeneC0038356Stomach Neoplasms1CTD_human
TgeneC0282313Condition, Preneoplastic1CTD_human
TgeneC0345967Malignant mesothelioma1CTD_human
TgeneC0346990Carcinomatosis of peritoneal cavity1CTD_human
TgeneC1708349Hereditary Diffuse Gastric Cancer1CTD_human