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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:MYSM1-DAB1 (FusionGDB2 ID:56859)

Fusion Gene Summary for MYSM1-DAB1

check button Fusion gene summary
Fusion gene informationFusion gene name: MYSM1-DAB1
Fusion gene ID: 56859
HgeneTgene
Gene symbol

MYSM1

DAB1

Gene ID

114803

352909

Gene nameMyb like, SWIRM and MPN domains 1dynein axonemal assembly factor 3
Synonyms2A-DUB|2ADUB|BMFS4C19orf51|CILD2|DAB1|PCD|PF22
Cytomap

1p32.1

19q13.42

Type of geneprotein-codingprotein-coding
Descriptionhistone H2A deubiquitinase MYSM1myb-like, SWIRM and MPN domain-containing protein 1dynein assembly factor 3, axonemalUPF0470 protein C19orf51
Modification date2020032020200313
UniProtAcc

Q5VVJ2

O75553

Ensembl transtripts involved in fusion geneENST00000472487, ENST00000493821, 
ENST00000371230, ENST00000371231, 
ENST00000371234, ENST00000371236, 
ENST00000414851, ENST00000420954, 
ENST00000439789, ENST00000485760, 
Fusion gene scores* DoF score9 X 11 X 6=59415 X 12 X 7=1260
# samples 1115
** MAII scorelog2(11/594*10)=-2.43295940727611
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(15/1260*10)=-3.0703893278914
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: MYSM1 [Title/Abstract] AND DAB1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointMYSM1(59150825)-DAB1(57611102), # samples:2
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

check buttonFusion gene breakpoints across MYSM1 (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 DAB1 (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
ChimerDB4LUSCTCGA-85-A513-01AMYSM1chr1

59150825

-DAB1chr1

57611102

-
ChimerDB4LUSCTCGA-85-A513MYSM1chr1

59150824

-DAB1chr1

57611102

-
ChimerDB4LUSCTCGA-85-A513MYSM1chr1

59150825

-DAB1chr1

57611102

-


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Fusion Gene ORF analysis for MYSM1-DAB1

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-5UTRENST00000472487ENST00000371230MYSM1chr1

59150824

-DAB1chr1

57611102

-
5CDS-5UTRENST00000472487ENST00000371230MYSM1chr1

59150825

-DAB1chr1

57611102

-
5CDS-5UTRENST00000472487ENST00000371231MYSM1chr1

59150824

-DAB1chr1

57611102

-
5CDS-5UTRENST00000472487ENST00000371231MYSM1chr1

59150825

-DAB1chr1

57611102

-
5CDS-5UTRENST00000472487ENST00000371234MYSM1chr1

59150824

-DAB1chr1

57611102

-
5CDS-5UTRENST00000472487ENST00000371234MYSM1chr1

59150825

-DAB1chr1

57611102

-
5CDS-5UTRENST00000472487ENST00000371236MYSM1chr1

59150824

-DAB1chr1

57611102

-
5CDS-5UTRENST00000472487ENST00000371236MYSM1chr1

59150825

-DAB1chr1

57611102

-
5CDS-5UTRENST00000472487ENST00000414851MYSM1chr1

59150824

-DAB1chr1

57611102

-
5CDS-5UTRENST00000472487ENST00000414851MYSM1chr1

59150825

-DAB1chr1

57611102

-
5CDS-5UTRENST00000472487ENST00000420954MYSM1chr1

59150824

-DAB1chr1

57611102

-
5CDS-5UTRENST00000472487ENST00000420954MYSM1chr1

59150825

-DAB1chr1

57611102

-
5CDS-5UTRENST00000472487ENST00000439789MYSM1chr1

59150824

-DAB1chr1

57611102

-
5CDS-5UTRENST00000472487ENST00000439789MYSM1chr1

59150825

-DAB1chr1

57611102

-
5CDS-5UTRENST00000472487ENST00000485760MYSM1chr1

59150824

-DAB1chr1

57611102

-
5CDS-5UTRENST00000472487ENST00000485760MYSM1chr1

59150825

-DAB1chr1

57611102

-
5UTR-5UTRENST00000493821ENST00000371230MYSM1chr1

59150824

-DAB1chr1

57611102

-
5UTR-5UTRENST00000493821ENST00000371230MYSM1chr1

59150825

-DAB1chr1

57611102

-
5UTR-5UTRENST00000493821ENST00000371231MYSM1chr1

59150824

-DAB1chr1

57611102

-
5UTR-5UTRENST00000493821ENST00000371231MYSM1chr1

59150825

-DAB1chr1

57611102

-
5UTR-5UTRENST00000493821ENST00000371234MYSM1chr1

59150824

-DAB1chr1

57611102

-
5UTR-5UTRENST00000493821ENST00000371234MYSM1chr1

59150825

-DAB1chr1

57611102

-
5UTR-5UTRENST00000493821ENST00000371236MYSM1chr1

59150824

-DAB1chr1

57611102

-
5UTR-5UTRENST00000493821ENST00000371236MYSM1chr1

59150825

-DAB1chr1

57611102

-
5UTR-5UTRENST00000493821ENST00000414851MYSM1chr1

59150824

-DAB1chr1

57611102

-
5UTR-5UTRENST00000493821ENST00000414851MYSM1chr1

59150825

-DAB1chr1

57611102

-
5UTR-5UTRENST00000493821ENST00000420954MYSM1chr1

59150824

-DAB1chr1

57611102

-
5UTR-5UTRENST00000493821ENST00000420954MYSM1chr1

59150825

-DAB1chr1

57611102

-
5UTR-5UTRENST00000493821ENST00000439789MYSM1chr1

59150824

-DAB1chr1

57611102

-
5UTR-5UTRENST00000493821ENST00000439789MYSM1chr1

59150825

-DAB1chr1

57611102

-
5UTR-5UTRENST00000493821ENST00000485760MYSM1chr1

59150824

-DAB1chr1

57611102

-
5UTR-5UTRENST00000493821ENST00000485760MYSM1chr1

59150825

-DAB1chr1

57611102

-

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 MYSM1-DAB1


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)

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.

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Fusion Protein Features for MYSM1-DAB1


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/:59150825/:57611102)
- 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
MYSM1

Q5VVJ2

DAB1

O75553

FUNCTION: Metalloprotease with deubiquitinase activity that plays important regulator roles in hematopoietic stem cell function, blood cell production and immune response (PubMed:24062447, PubMed:26220525, PubMed:28115216). Participates in the normal programming of B-cell responses to antigen after the maturation process (By similarity). Within the cytoplasm, plays critical roles in the repression of innate immunity and autoimmunity (PubMed:33086059). Removes 'Lys-63'-linked polyubiquitins from TRAF3 and TRAF6 complexes (By similarity). Attenuates NOD2-mediated inflammation and tissue injury by promoting 'Lys-63'-linked deubiquitination of RIPK2 component (By similarity). Suppresses the CGAS-STING1 signaling pathway by cleaving STING1 'Lys-63'-linked ubiquitin chains (PubMed:33086059). In the nucleus, acts as a hematopoietic transcription regulator derepressing a range of genes essential for normal stem cell differentiation including EBF1 and PAX5 in B-cells, ID2 in NK-cell progenitor or FLT3 in dendritic cell precursors (PubMed:24062447). Deubiquitinates monoubiquitinated histone H2A, a specific tag for epigenetic transcriptional repression, leading to dissociation of histone H1 from the nucleosome (PubMed:17707232). {ECO:0000250|UniProtKB:Q69Z66, ECO:0000269|PubMed:17707232, ECO:0000269|PubMed:22169041, ECO:0000269|PubMed:24062447, ECO:0000269|PubMed:26220525, ECO:0000269|PubMed:28115216, ECO:0000269|PubMed:33086059}.FUNCTION: Adapter molecule functioning in neural development. May regulate SIAH1 activity. {ECO:0000250|UniProtKB:P97318}.

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 MYSM1-DAB1


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 MYSM1-DAB1


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 MYSM1-DAB1


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 MYSM1-DAB1


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