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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: 22794

FusionGeneSummary for MTMR2_TCP11L1

check button Fusion gene summary
Fusion gene informationFusion gene name: MTMR2_TCP11L1
Fusion gene ID: 22794
HgeneTgene
Gene symbol

MTMR2

TCP11L1

Gene ID

8898

55346

Gene namemyotubularin related protein 2t-complex 11 like 1
SynonymsCMT4B|CMT4B1dJ85M6.3
Cytomap

11q21

11p13

Type of geneprotein-codingprotein-coding
Descriptionmyotubularin-related protein 2phosphatidylinositol-3,5-bisphosphate 3-phosphatasephosphatidylinositol-3-phosphatasephosphatidylinositol-3-phosphate phosphatasephosphoinositide-3-phosphataseT-complex protein 11-like protein 1t-complex 11, testis-specific-like 1
Modification date2018051920180519
UniProtAcc

Q13614

Q9NUJ3

Ensembl transtripts involved in fusion geneENST00000393223, ENST00000346299, 
ENST00000409459, ENST00000352297, 
ENST00000484818, 		ENST00000334274, 
ENST00000530171, ENST00000432887, 
ENST00000531632, ENST00000324357, 
Fusion gene scores* DoF score6 X 4 X 7=1684 X 4 X 2=32
# samples 74
** MAII scorelog2(7/168*10)=-1.26303440583379
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(4/32*10)=0.321928094887362
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: MTMR2 [Title/Abstract] AND TCP11L1 [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


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
TCGARVPRADTCGA-ZG-A9L0-01AMTMR2chr11

95647406

-TCP11L1chr11

33094020

+
* 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
5UTR-3CDSENST00000393223ENST00000334274MTMR2chr11

95647406

-TCP11L1chr11

33094020

+
5UTR-intronENST00000393223ENST00000530171MTMR2chr11

95647406

-TCP11L1chr11

33094020

+
5UTR-intronENST00000393223ENST00000432887MTMR2chr11

95647406

-TCP11L1chr11

33094020

+
5UTR-intronENST00000393223ENST00000531632MTMR2chr11

95647406

-TCP11L1chr11

33094020

+
5UTR-intronENST00000393223ENST00000324357MTMR2chr11

95647406

-TCP11L1chr11

33094020

+
intron-3CDSENST00000346299ENST00000334274MTMR2chr11

95647406

-TCP11L1chr11

33094020

+
intron-intronENST00000346299ENST00000530171MTMR2chr11

95647406

-TCP11L1chr11

33094020

+
intron-intronENST00000346299ENST00000432887MTMR2chr11

95647406

-TCP11L1chr11

33094020

+
intron-intronENST00000346299ENST00000531632MTMR2chr11

95647406

-TCP11L1chr11

33094020

+
intron-intronENST00000346299ENST00000324357MTMR2chr11

95647406

-TCP11L1chr11

33094020

+
5UTR-3CDSENST00000409459ENST00000334274MTMR2chr11

95647406

-TCP11L1chr11

33094020

+
5UTR-intronENST00000409459ENST00000530171MTMR2chr11

95647406

-TCP11L1chr11

33094020

+
5UTR-intronENST00000409459ENST00000432887MTMR2chr11

95647406

-TCP11L1chr11

33094020

+
5UTR-intronENST00000409459ENST00000531632MTMR2chr11

95647406

-TCP11L1chr11

33094020

+
5UTR-intronENST00000409459ENST00000324357MTMR2chr11

95647406

-TCP11L1chr11

33094020

+
5UTR-3CDSENST00000352297ENST00000334274MTMR2chr11

95647406

-TCP11L1chr11

33094020

+
5UTR-intronENST00000352297ENST00000530171MTMR2chr11

95647406

-TCP11L1chr11

33094020

+
5UTR-intronENST00000352297ENST00000432887MTMR2chr11

95647406

-TCP11L1chr11

33094020

+
5UTR-intronENST00000352297ENST00000531632MTMR2chr11

95647406

-TCP11L1chr11

33094020

+
5UTR-intronENST00000352297ENST00000324357MTMR2chr11

95647406

-TCP11L1chr11

33094020

+
intron-3CDSENST00000484818ENST00000334274MTMR2chr11

95647406

-TCP11L1chr11

33094020

+
intron-intronENST00000484818ENST00000530171MTMR2chr11

95647406

-TCP11L1chr11

33094020

+
intron-intronENST00000484818ENST00000432887MTMR2chr11

95647406

-TCP11L1chr11

33094020

+
intron-intronENST00000484818ENST00000531632MTMR2chr11

95647406

-TCP11L1chr11

33094020

+
intron-intronENST00000484818ENST00000324357MTMR2chr11

95647406

-TCP11L1chr11

33094020

+

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FusionProtFeatures for MTMR2_TCP11L1


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

Q13614

TCP11L1

Q9NUJ3

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}.

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_TCP11L1


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_TCP11L1


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, ROR2TCP11L1IKBKG, NEDD4, APP, TUBB2B, MCM2, TUBB, TUBB3, TTC5, TBCD, ZNF836, TRIM25, 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_TCP11L1


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_TCP11L1


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