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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: 22789

FusionGeneSummary for MTMR2_ATP2C1

check button Fusion gene summary
Fusion gene informationFusion gene name: MTMR2_ATP2C1
Fusion gene ID: 22789
HgeneTgene
Gene symbol

MTMR2

ATP2C1

Gene ID

8898

27032

Gene namemyotubularin related protein 2ATPase secretory pathway Ca2+ transporting 1
SynonymsCMT4B|CMT4B1ATP2C1A|BCPM|HHD|PMR1|SPCA1|hSPCA1
Cytomap

11q21

3q22.1

Type of geneprotein-codingprotein-coding
Descriptionmyotubularin-related protein 2phosphatidylinositol-3,5-bisphosphate 3-phosphatasephosphatidylinositol-3-phosphatasephosphatidylinositol-3-phosphate phosphatasephosphoinositide-3-phosphatasecalcium-transporting ATPase type 2C member 1ATP-dependent Ca(2+) pump PMR1ATPase 2C1ATPase, Ca(2+)-sequesteringATPase, Ca++ transporting, type 2C, member 1HUSSY-28secretory pathway Ca2+/Mn2+ ATPase 1
Modification date2018051920180523
UniProtAcc

Q13614

P98194

Ensembl transtripts involved in fusion geneENST00000393223, ENST00000346299, 
ENST00000409459, ENST00000352297, 
ENST00000484818, 		ENST00000505330, 
ENST00000504381, ENST00000507488, 
ENST00000393221, ENST00000533801, 
ENST00000510168, ENST00000508532, 
ENST00000504948, ENST00000513801, 
ENST00000328560, ENST00000428331, 
ENST00000359644, ENST00000422190, 
ENST00000509150, 
Fusion gene scores* DoF score6 X 4 X 7=1686 X 6 X 3=108
# samples 76
** MAII scorelog2(7/168*10)=-1.26303440583379
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(6/108*10)=-0.84799690655495
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: MTMR2 [Title/Abstract] AND ATP2C1 [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

TgeneATP2C1

GO:0006816

calcium ion transport

12810057

TgeneATP2C1

GO:0006874

cellular calcium ion homeostasis

12810057


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
ChiTaRS3.1DB155299MTMR2chr11

95657037

-ATP2C1chr3

130649258

+
* 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-5UTRENST00000393223ENST00000505330MTMR2chr11

95657037

-ATP2C1chr3

130649258

+
5UTR-5UTRENST00000393223ENST00000504381MTMR2chr11

95657037

-ATP2C1chr3

130649258

+
5UTR-5UTRENST00000393223ENST00000507488MTMR2chr11

95657037

-ATP2C1chr3

130649258

+
5UTR-5UTRENST00000393223ENST00000393221MTMR2chr11

95657037

-ATP2C1chr3

130649258

+
5UTR-5UTRENST00000393223ENST00000533801MTMR2chr11

95657037

-ATP2C1chr3

130649258

+
5UTR-5UTRENST00000393223ENST00000510168MTMR2chr11

95657037

-ATP2C1chr3

130649258

+
5UTR-5UTRENST00000393223ENST00000508532MTMR2chr11

95657037

-ATP2C1chr3

130649258

+
5UTR-5UTRENST00000393223ENST00000504948MTMR2chr11

95657037

-ATP2C1chr3

130649258

+
5UTR-5UTRENST00000393223ENST00000513801MTMR2chr11

95657037

-ATP2C1chr3

130649258

+
5UTR-5UTRENST00000393223ENST00000328560MTMR2chr11

95657037

-ATP2C1chr3

130649258

+
5UTR-5UTRENST00000393223ENST00000428331MTMR2chr11

95657037

-ATP2C1chr3

130649258

+
5UTR-5UTRENST00000393223ENST00000359644MTMR2chr11

95657037

-ATP2C1chr3

130649258

+
5UTR-5UTRENST00000393223ENST00000422190MTMR2chr11

95657037

-ATP2C1chr3

130649258

+
5UTR-intronENST00000393223ENST00000509150MTMR2chr11

95657037

-ATP2C1chr3

130649258

+
5CDS-5UTRENST00000346299ENST00000505330MTMR2chr11

95657037

-ATP2C1chr3

130649258

+
5CDS-5UTRENST00000346299ENST00000504381MTMR2chr11

95657037

-ATP2C1chr3

130649258

+
5CDS-5UTRENST00000346299ENST00000507488MTMR2chr11

95657037

-ATP2C1chr3

130649258

+
5CDS-5UTRENST00000346299ENST00000393221MTMR2chr11

95657037

-ATP2C1chr3

130649258

+
5CDS-5UTRENST00000346299ENST00000533801MTMR2chr11

95657037

-ATP2C1chr3

130649258

+
5CDS-5UTRENST00000346299ENST00000510168MTMR2chr11

95657037

-ATP2C1chr3

130649258

+
5CDS-5UTRENST00000346299ENST00000508532MTMR2chr11

95657037

-ATP2C1chr3

130649258

+
5CDS-5UTRENST00000346299ENST00000504948MTMR2chr11

95657037

-ATP2C1chr3

130649258

+
5CDS-5UTRENST00000346299ENST00000513801MTMR2chr11

95657037

-ATP2C1chr3

130649258

+
5CDS-5UTRENST00000346299ENST00000328560MTMR2chr11

95657037

-ATP2C1chr3

130649258

+
5CDS-5UTRENST00000346299ENST00000428331MTMR2chr11

95657037

-ATP2C1chr3

130649258

+
5CDS-5UTRENST00000346299ENST00000359644MTMR2chr11

95657037

-ATP2C1chr3

130649258

+
5CDS-5UTRENST00000346299ENST00000422190MTMR2chr11

95657037

-ATP2C1chr3

130649258

+
5CDS-intronENST00000346299ENST00000509150MTMR2chr11

95657037

-ATP2C1chr3

130649258

+
5UTR-5UTRENST00000409459ENST00000505330MTMR2chr11

95657037

-ATP2C1chr3

130649258

+
5UTR-5UTRENST00000409459ENST00000504381MTMR2chr11

95657037

-ATP2C1chr3

130649258

+
5UTR-5UTRENST00000409459ENST00000507488MTMR2chr11

95657037

-ATP2C1chr3

130649258

+
5UTR-5UTRENST00000409459ENST00000393221MTMR2chr11

95657037

-ATP2C1chr3

130649258

+
5UTR-5UTRENST00000409459ENST00000533801MTMR2chr11

95657037

-ATP2C1chr3

130649258

+
5UTR-5UTRENST00000409459ENST00000510168MTMR2chr11

95657037

-ATP2C1chr3

130649258

+
5UTR-5UTRENST00000409459ENST00000508532MTMR2chr11

95657037

-ATP2C1chr3

130649258

+
5UTR-5UTRENST00000409459ENST00000504948MTMR2chr11

95657037

-ATP2C1chr3

130649258

+
5UTR-5UTRENST00000409459ENST00000513801MTMR2chr11

95657037

-ATP2C1chr3

130649258

+
5UTR-5UTRENST00000409459ENST00000328560MTMR2chr11

95657037

-ATP2C1chr3

130649258

+
5UTR-5UTRENST00000409459ENST00000428331MTMR2chr11

95657037

-ATP2C1chr3

130649258

+
5UTR-5UTRENST00000409459ENST00000359644MTMR2chr11

95657037

-ATP2C1chr3

130649258

+
5UTR-5UTRENST00000409459ENST00000422190MTMR2chr11

95657037

-ATP2C1chr3

130649258

+
5UTR-intronENST00000409459ENST00000509150MTMR2chr11

95657037

-ATP2C1chr3

130649258

+
5UTR-5UTRENST00000352297ENST00000505330MTMR2chr11

95657037

-ATP2C1chr3

130649258

+
5UTR-5UTRENST00000352297ENST00000504381MTMR2chr11

95657037

-ATP2C1chr3

130649258

+
5UTR-5UTRENST00000352297ENST00000507488MTMR2chr11

95657037

-ATP2C1chr3

130649258

+
5UTR-5UTRENST00000352297ENST00000393221MTMR2chr11

95657037

-ATP2C1chr3

130649258

+
5UTR-5UTRENST00000352297ENST00000533801MTMR2chr11

95657037

-ATP2C1chr3

130649258

+
5UTR-5UTRENST00000352297ENST00000510168MTMR2chr11

95657037

-ATP2C1chr3

130649258

+
5UTR-5UTRENST00000352297ENST00000508532MTMR2chr11

95657037

-ATP2C1chr3

130649258

+
5UTR-5UTRENST00000352297ENST00000504948MTMR2chr11

95657037

-ATP2C1chr3

130649258

+
5UTR-5UTRENST00000352297ENST00000513801MTMR2chr11

95657037

-ATP2C1chr3

130649258

+
5UTR-5UTRENST00000352297ENST00000328560MTMR2chr11

95657037

-ATP2C1chr3

130649258

+
5UTR-5UTRENST00000352297ENST00000428331MTMR2chr11

95657037

-ATP2C1chr3

130649258

+
5UTR-5UTRENST00000352297ENST00000359644MTMR2chr11

95657037

-ATP2C1chr3

130649258

+
5UTR-5UTRENST00000352297ENST00000422190MTMR2chr11

95657037

-ATP2C1chr3

130649258

+
5UTR-intronENST00000352297ENST00000509150MTMR2chr11

95657037

-ATP2C1chr3

130649258

+
intron-5UTRENST00000484818ENST00000505330MTMR2chr11

95657037

-ATP2C1chr3

130649258

+
intron-5UTRENST00000484818ENST00000504381MTMR2chr11

95657037

-ATP2C1chr3

130649258

+
intron-5UTRENST00000484818ENST00000507488MTMR2chr11

95657037

-ATP2C1chr3

130649258

+
intron-5UTRENST00000484818ENST00000393221MTMR2chr11

95657037

-ATP2C1chr3

130649258

+
intron-5UTRENST00000484818ENST00000533801MTMR2chr11

95657037

-ATP2C1chr3

130649258

+
intron-5UTRENST00000484818ENST00000510168MTMR2chr11

95657037

-ATP2C1chr3

130649258

+
intron-5UTRENST00000484818ENST00000508532MTMR2chr11

95657037

-ATP2C1chr3

130649258

+
intron-5UTRENST00000484818ENST00000504948MTMR2chr11

95657037

-ATP2C1chr3

130649258

+
intron-5UTRENST00000484818ENST00000513801MTMR2chr11

95657037

-ATP2C1chr3

130649258

+
intron-5UTRENST00000484818ENST00000328560MTMR2chr11

95657037

-ATP2C1chr3

130649258

+
intron-5UTRENST00000484818ENST00000428331MTMR2chr11

95657037

-ATP2C1chr3

130649258

+
intron-5UTRENST00000484818ENST00000359644MTMR2chr11

95657037

-ATP2C1chr3

130649258

+
intron-5UTRENST00000484818ENST00000422190MTMR2chr11

95657037

-ATP2C1chr3

130649258

+
intron-intronENST00000484818ENST00000509150MTMR2chr11

95657037

-ATP2C1chr3

130649258

+

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FusionProtFeatures for MTMR2_ATP2C1


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

Q13614

ATP2C1

P98194

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_ATP2C1


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_ATP2C1


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, ROR2ATP2C1ELAVL1, RNF2, HLA-DPA1, TMEM231, OGFOD3, TMEFF1, VSIG4, NTRK1, TMEM17, RAB5C, GOLT1B, FAF2, TMEM165, GTF2IRD1


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


Top

RelatedDrugs for MTMR2_ATP2C1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneATP2C1P98194DB01189DesfluraneCalcium-transporting ATPase type 2C member 1small moleculeapproved
TgeneATP2C1P98194DB00228EnfluraneCalcium-transporting ATPase type 2C member 1small moleculeapproved|investigational|vet_approved
TgeneATP2C1P98194DB01028MethoxyfluraneCalcium-transporting ATPase type 2C member 1small moleculeapproved|investigational|vet_approved
TgeneATP2C1P98194DB01373CalciumCalcium-transporting ATPase type 2C member 1small moleculeapproved|nutraceutical
TgeneATP2C1P98194DB00753IsofluraneCalcium-transporting ATPase type 2C member 1small moleculeapproved|vet_approved
TgeneATP2C1P98194DB01159HalothaneCalcium-transporting ATPase type 2C member 1small moleculeapproved|vet_approved
TgeneATP2C1P98194DB01236SevofluraneCalcium-transporting ATPase type 2C member 1small moleculeapproved|vet_approved

Top

RelatedDiseases for MTMR2_ATP2C1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneMTMR2C1832399Charcot-Marie-Tooth disease, Type 4B11CTD_human;ORPHANET;UNIPROT
TgeneATP2C1C0085106Familial benign pemphigus7CTD_human;ORPHANET;UNIPROT