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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: 22791

FusionGeneSummary for MTMR2_DPM1

check button Fusion gene summary
Fusion gene informationFusion gene name: MTMR2_DPM1
Fusion gene ID: 22791
HgeneTgene
Gene symbol

MTMR2

DPM1

Gene ID

8898

8813

Gene namemyotubularin related protein 2dolichyl-phosphate mannosyltransferase subunit 1, catalytic
SynonymsCMT4B|CMT4B1CDGIE|MPDS
Cytomap

11q21

20q13.13

Type of geneprotein-codingprotein-coding
Descriptionmyotubularin-related protein 2phosphatidylinositol-3,5-bisphosphate 3-phosphatasephosphatidylinositol-3-phosphatasephosphatidylinositol-3-phosphate phosphatasephosphoinositide-3-phosphatasedolichol-phosphate mannosyltransferase subunit 1DPM synthase complex, catalytic subunitDPM synthase subunit 1MPD synthase subunit 1dolichol monophosphate mannose synthasedolichol-phosphate mannose synthase subunit 1dolichyl-phosphate beta-D-mannosyl
Modification date2018051920180523
UniProtAcc

Q13614

O60762

Ensembl transtripts involved in fusion geneENST00000393223, ENST00000346299, 
ENST00000409459, ENST00000352297, 
ENST00000484818, 
ENST00000466152, 
ENST00000371588, ENST00000371582, 
ENST00000371583, 
Fusion gene scores* DoF score6 X 4 X 7=1685 X 7 X 3=105
# samples 77
** MAII scorelog2(7/168*10)=-1.26303440583379
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(7/105*10)=-0.584962500721156
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: MTMR2 [Title/Abstract] AND DPM1 [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
HgeneMTMR2

GO:0046856

phosphatidylinositol dephosphorylation

12668758

HgeneMTMR2

GO:0060304

regulation of phosphatidylinositol dephosphorylation

16787938

TgeneDPM1

GO:0006506

GPI anchor biosynthetic process

9535917|9724629|10835346

TgeneDPM1

GO:0019348

dolichol metabolic process

9535917|9724629

TgeneDPM1

GO:0035268

protein mannosylation

9535917

TgeneDPM1

GO:0035269

protein O-linked mannosylation

9535917


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
TCGALDGBMTCGA-06-0649-01BMTMR2chr11

95598765

-DPM1chr20

49551773

-
* 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
5CDS-5UTRENST00000393223ENST00000466152MTMR2chr11

95598765

-DPM1chr20

49551773

-
5CDS-5UTRENST00000393223ENST00000371588MTMR2chr11

95598765

-DPM1chr20

49551773

-
5CDS-5UTRENST00000393223ENST00000371582MTMR2chr11

95598765

-DPM1chr20

49551773

-
5CDS-5UTRENST00000393223ENST00000371583MTMR2chr11

95598765

-DPM1chr20

49551773

-
5CDS-5UTRENST00000346299ENST00000466152MTMR2chr11

95598765

-DPM1chr20

49551773

-
5CDS-5UTRENST00000346299ENST00000371588MTMR2chr11

95598765

-DPM1chr20

49551773

-
5CDS-5UTRENST00000346299ENST00000371582MTMR2chr11

95598765

-DPM1chr20

49551773

-
5CDS-5UTRENST00000346299ENST00000371583MTMR2chr11

95598765

-DPM1chr20

49551773

-
5CDS-5UTRENST00000409459ENST00000466152MTMR2chr11

95598765

-DPM1chr20

49551773

-
5CDS-5UTRENST00000409459ENST00000371588MTMR2chr11

95598765

-DPM1chr20

49551773

-
5CDS-5UTRENST00000409459ENST00000371582MTMR2chr11

95598765

-DPM1chr20

49551773

-
5CDS-5UTRENST00000409459ENST00000371583MTMR2chr11

95598765

-DPM1chr20

49551773

-
5CDS-5UTRENST00000352297ENST00000466152MTMR2chr11

95598765

-DPM1chr20

49551773

-
5CDS-5UTRENST00000352297ENST00000371588MTMR2chr11

95598765

-DPM1chr20

49551773

-
5CDS-5UTRENST00000352297ENST00000371582MTMR2chr11

95598765

-DPM1chr20

49551773

-
5CDS-5UTRENST00000352297ENST00000371583MTMR2chr11

95598765

-DPM1chr20

49551773

-
5UTR-5UTRENST00000484818ENST00000466152MTMR2chr11

95598765

-DPM1chr20

49551773

-
5UTR-5UTRENST00000484818ENST00000371588MTMR2chr11

95598765

-DPM1chr20

49551773

-
5UTR-5UTRENST00000484818ENST00000371582MTMR2chr11

95598765

-DPM1chr20

49551773

-
5UTR-5UTRENST00000484818ENST00000371583MTMR2chr11

95598765

-DPM1chr20

49551773

-

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FusionProtFeatures for MTMR2_DPM1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
MTMR2

Q13614

DPM1

O60762

Phosphatase that acts on lipids with a phosphoinositolheadgroup. Has phosphatase activity towards phosphatidylinositol3-phosphate and phosphatidylinositol 3,5-bisphosphate.{ECO:0000269|PubMed:11733541, ECO:0000269|PubMed:12668758,ECO:0000269|PubMed:21372139}. Transfers mannose from GDP-mannose to dolicholmonophosphate to form dolichol phosphate mannose (Dol-P-Man) whichis the mannosyl donor in pathways leading to N-glycosylation,glycosyl phosphatidylinositol membrane anchoring, and O-mannosylation of proteins; catalytic subunit of the dolichol-phosphate mannose (DPM) synthase complex.

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 MTMR2_DPM1


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 MTMR2_DPM1


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
MTMR2SBF1, MTMR2, ELAVL1, RFC5, SNTA1, HSF1, SZRD1, CTPS2, EHD4, LRSAM1, PLIN3, XPNPEP1, UNK, MTMR11, CCDC22, MTMR1, MTMR10, MTMR12, NFKB1, SBF2, TUBA1B, MTMR9, EYA3, SEPSECS, NUDT16, GADD45GIP1, RPS19BP1, MRTO4, EBNA1BP2, RPL3L, ERBB4, ERBB3, ROR2DPM1BRF2, ZBTB16, DPM2, DPM3, MYC, STUB1, CLN3, FBXO6, ILK, HUWE1, TDO2, BMI1, EGFR, AATK, ARAF, NTRK1, TUBG1, ELMSAN1, FBXW7, MCM2, PHF12, WWP2, TES


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 MTMR2_DPM1


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 MTMR2_DPM1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneMTMR2C1832399Charcot-Marie-Tooth disease, Type 4B11CTD_human;ORPHANET;UNIPROT
TgeneDPM1C1837396CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie3CTD_human;ORPHANET;UNIPROT