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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 22776

FusionGeneSummary for MTM1_MTM1

check button Fusion gene summary
Fusion gene informationFusion gene name: MTM1_MTM1
Fusion gene ID: 22776
HgeneTgene
Gene symbol

MTM1

MTM1

Gene ID

4534

4534

Gene namemyotubularin 1myotubularin 1
SynonymsCNM|MTMX|XLMTMCNM|MTMX|XLMTM
Cytomap

Xq28

Xq28

Type of geneprotein-codingprotein-coding
Descriptionmyotubularinphosphatidylinositol-3,5-bisphosphate 3-phosphatasephosphatidylinositol-3-phosphate phosphatasemyotubularinphosphatidylinositol-3,5-bisphosphate 3-phosphatasephosphatidylinositol-3-phosphate phosphatase
Modification date2018051920180519
UniProtAcc

Q13496

Q13496

Ensembl transtripts involved in fusion geneENST00000370396, ENST00000542741, 
ENST00000543350, ENST00000306167, 
ENST00000413012, 
ENST00000370396, 
ENST00000542741, ENST00000543350, 
ENST00000306167, ENST00000413012, 
Fusion gene scores* DoF score3 X 3 X 2=181 X 1 X 1=1
# samples 31
** MAII scorelog2(3/18*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(1/1*10)=3.32192809488736
Context

PubMed: MTM1 [Title/Abstract] AND MTM1 [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotation
* 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
HgeneMTM1

GO:0006470

protein dephosphorylation

9537414

HgeneMTM1

GO:0008333

endosome to lysosome transport

14722070

HgeneMTM1

GO:0044088

regulation of vacuole organization

14722070

HgeneMTM1

GO:0046856

phosphatidylinositol dephosphorylation

10900271|12646134

HgeneMTM1

GO:0070584

mitochondrion morphogenesis

21135508

TgeneMTM1

GO:0006470

protein dephosphorylation

9537414

TgeneMTM1

GO:0008333

endosome to lysosome transport

14722070

TgeneMTM1

GO:0044088

regulation of vacuole organization

14722070

TgeneMTM1

GO:0046856

phosphatidylinositol dephosphorylation

10900271|12646134

TgeneMTM1

GO:0070584

mitochondrion morphogenesis

21135508


check button Fusion gene information from three resources
(ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018))
* 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.
Data typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChiTaRS3.1AA506682MTM1chrX

149841357

+MTM1chrX

149841387

-
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

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
3UTR-3UTRENST00000370396ENST00000370396MTM1chrX

149841357

+MTM1chrX

149841387

-
3UTR-intronENST00000370396ENST00000542741MTM1chrX

149841357

+MTM1chrX

149841387

-
3UTR-intronENST00000370396ENST00000543350MTM1chrX

149841357

+MTM1chrX

149841387

-
3UTR-intronENST00000370396ENST00000306167MTM1chrX

149841357

+MTM1chrX

149841387

-
3UTR-intronENST00000370396ENST00000413012MTM1chrX

149841357

+MTM1chrX

149841387

-
intron-3UTRENST00000542741ENST00000370396MTM1chrX

149841357

+MTM1chrX

149841387

-
intron-intronENST00000542741ENST00000542741MTM1chrX

149841357

+MTM1chrX

149841387

-
intron-intronENST00000542741ENST00000543350MTM1chrX

149841357

+MTM1chrX

149841387

-
intron-intronENST00000542741ENST00000306167MTM1chrX

149841357

+MTM1chrX

149841387

-
intron-intronENST00000542741ENST00000413012MTM1chrX

149841357

+MTM1chrX

149841387

-
intron-3UTRENST00000543350ENST00000370396MTM1chrX

149841357

+MTM1chrX

149841387

-
intron-intronENST00000543350ENST00000542741MTM1chrX

149841357

+MTM1chrX

149841387

-
intron-intronENST00000543350ENST00000543350MTM1chrX

149841357

+MTM1chrX

149841387

-
intron-intronENST00000543350ENST00000306167MTM1chrX

149841357

+MTM1chrX

149841387

-
intron-intronENST00000543350ENST00000413012MTM1chrX

149841357

+MTM1chrX

149841387

-
intron-3UTRENST00000306167ENST00000370396MTM1chrX

149841357

+MTM1chrX

149841387

-
intron-intronENST00000306167ENST00000542741MTM1chrX

149841357

+MTM1chrX

149841387

-
intron-intronENST00000306167ENST00000543350MTM1chrX

149841357

+MTM1chrX

149841387

-
intron-intronENST00000306167ENST00000306167MTM1chrX

149841357

+MTM1chrX

149841387

-
intron-intronENST00000306167ENST00000413012MTM1chrX

149841357

+MTM1chrX

149841387

-
intron-3UTRENST00000413012ENST00000370396MTM1chrX

149841357

+MTM1chrX

149841387

-
intron-intronENST00000413012ENST00000542741MTM1chrX

149841357

+MTM1chrX

149841387

-
intron-intronENST00000413012ENST00000543350MTM1chrX

149841357

+MTM1chrX

149841387

-
intron-intronENST00000413012ENST00000306167MTM1chrX

149841357

+MTM1chrX

149841387

-
intron-intronENST00000413012ENST00000413012MTM1chrX

149841357

+MTM1chrX

149841387

-

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FusionProtFeatures for MTM1_MTM1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
MTM1

Q13496

MTM1

Q13496

Lipid phosphatase which dephosphorylatesphosphatidylinositol 3-monophosphate (PI3P) andphosphatidylinositol 3,5-bisphosphate (PI(3,5)P2). Has also beenshown to dephosphorylate phosphotyrosine- and phosphoserine-containing peptides. Negatively regulates EGFR degradation throughregulation of EGFR trafficking from the late endosome to thelysosome. Plays a role in vacuolar formation and morphology.Regulates desmin intermediate filament assembly and architecture.Plays a role in mitochondrial morphology and positioning. Requiredfor skeletal muscle maintenance but not for myogenesis.{ECO:0000269|PubMed:10900271, ECO:0000269|PubMed:11001925,ECO:0000269|PubMed:12646134, ECO:0000269|PubMed:14722070,ECO:0000269|PubMed:21135508, ECO:0000269|PubMed:9537414}. Lipid phosphatase which dephosphorylatesphosphatidylinositol 3-monophosphate (PI3P) andphosphatidylinositol 3,5-bisphosphate (PI(3,5)P2). Has also beenshown to dephosphorylate phosphotyrosine- and phosphoserine-containing peptides. Negatively regulates EGFR degradation throughregulation of EGFR trafficking from the late endosome to thelysosome. Plays a role in vacuolar formation and morphology.Regulates desmin intermediate filament assembly and architecture.Plays a role in mitochondrial morphology and positioning. Requiredfor skeletal muscle maintenance but not for myogenesis.{ECO:0000269|PubMed:10900271, ECO:0000269|PubMed:11001925,ECO:0000269|PubMed:12646134, ECO:0000269|PubMed:14722070,ECO:0000269|PubMed:21135508, ECO:0000269|PubMed:9537414}.

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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FusionGeneSequence for MTM1_MTM1


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences.
(nt: nucleotides, aa: amino acids)

* Fusion amino acid sequences.

* Fusion transcript sequences (only coding sequence (CDS) region).

* Fusion transcript sequences (Full-length transcript).

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FusionGenePPI for MTM1_MTM1


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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RelatedDrugs for MTM1_MTM1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for MTM1_MTM1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneMTM1C0410203X-linked centronuclear myopathy13CTD_human;ORPHANET;UNIPROT
HgeneMTM1C0752282Congenital Structural Myopathy1CTD_human
TgeneMTM1C0410203X-linked centronuclear myopathy13CTD_human;ORPHANET;UNIPROT
TgeneMTM1C0752282Congenital Structural Myopathy1CTD_human