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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: 39184

FusionGeneSummary for TPCN2_MYO1D

check button Fusion gene summary
Fusion gene informationFusion gene name: TPCN2_MYO1D
Fusion gene ID: 39184
HgeneTgene
Gene symbol

TPCN2

MYO1D

Gene ID

219931

4642

Gene nametwo pore segment channel 2myosin ID
SynonymsSHEP10|TPC2PPP1R108|myr4
Cytomap

11q13.3

17q11.2

Type of geneprotein-codingprotein-coding
Descriptiontwo pore calcium channel protein 2voltage-dependent calcium channel protein TPC2unconventional myosin-Idmyosin-I gammaprotein phosphatase 1, regulatory subunit 108
Modification date2018052220180519
UniProtAcc

Q8NHX9

O94832

Ensembl transtripts involved in fusion geneENST00000294309, ENST00000542467, 
ENST00000442692, 		ENST00000318217, 
ENST00000394649, ENST00000579584, 
ENST00000584232, ENST00000583621, 
Fusion gene scores* DoF score9 X 8 X 6=43215 X 9 X 8=1080
# samples 915
** MAII scorelog2(9/432*10)=-2.26303440583379
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(15/1080*10)=-2.84799690655495
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: TPCN2 [Title/Abstract] AND MYO1D [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
HgeneTPCN2

GO:0006874

cellular calcium ion homeostasis

19387438

TgeneMYO1D

GO:0010923

negative regulation of phosphatase activity

19389623


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
TCGALDBLCATCGA-DK-A1AC-01ATPCN2chr11

68855834

+MYO1Dchr17

30932259

-
* 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-3CDSENST00000294309ENST00000318217TPCN2chr11

68855834

+MYO1Dchr17

30932259

-
3UTR-3CDSENST00000294309ENST00000394649TPCN2chr11

68855834

+MYO1Dchr17

30932259

-
3UTR-3CDSENST00000294309ENST00000579584TPCN2chr11

68855834

+MYO1Dchr17

30932259

-
3UTR-intronENST00000294309ENST00000584232TPCN2chr11

68855834

+MYO1Dchr17

30932259

-
3UTR-intronENST00000294309ENST00000583621TPCN2chr11

68855834

+MYO1Dchr17

30932259

-
intron-3CDSENST00000542467ENST00000318217TPCN2chr11

68855834

+MYO1Dchr17

30932259

-
intron-3CDSENST00000542467ENST00000394649TPCN2chr11

68855834

+MYO1Dchr17

30932259

-
intron-3CDSENST00000542467ENST00000579584TPCN2chr11

68855834

+MYO1Dchr17

30932259

-
intron-intronENST00000542467ENST00000584232TPCN2chr11

68855834

+MYO1Dchr17

30932259

-
intron-intronENST00000542467ENST00000583621TPCN2chr11

68855834

+MYO1Dchr17

30932259

-
3UTR-3CDSENST00000442692ENST00000318217TPCN2chr11

68855834

+MYO1Dchr17

30932259

-
3UTR-3CDSENST00000442692ENST00000394649TPCN2chr11

68855834

+MYO1Dchr17

30932259

-
3UTR-3CDSENST00000442692ENST00000579584TPCN2chr11

68855834

+MYO1Dchr17

30932259

-
3UTR-intronENST00000442692ENST00000584232TPCN2chr11

68855834

+MYO1Dchr17

30932259

-
3UTR-intronENST00000442692ENST00000583621TPCN2chr11

68855834

+MYO1Dchr17

30932259

-

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FusionProtFeatures for TPCN2_MYO1D


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
TPCN2

Q8NHX9

MYO1D

O94832

Nicotinic acid adenine dinucleotide phosphate (NAADP)receptor that may function as one of the major voltage-gatedCa(2+) channels (VDCC) across the lysosomal membrane. May beinvolved in smooth muscle contraction.{ECO:0000269|PubMed:19387438, ECO:0000269|PubMed:19620632}. Myosins are actin-based motor molecules with ATPaseactivity. Unconventional myosins serve in intracellular movements.Their highly divergent tails are presumed to bind to membranouscompartments, which would be moved relative to actin filaments (Bysimilarity). {ECO:0000250}.

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 TPCN2_MYO1D


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 TPCN2_MYO1D


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
TPCN2ANKRD27, AGBL5, USP32, DENND6A, TRAPPC8, WDR44, PTPRA, CLCN3, FBXO10, ARRB2, RRAGB, PI4K2A, RELT, AP3B1, WDR11, TSR3, PCDH9, DIP2A, RAB6B, ZRANB3, AP3D1, CD320, DDX11L8, VAMP3, CERK, OCRL, AP3S1, APPL1, HK3, MAP2K7, DAGLB, B4GALT5, TMEM56, RNF149, LRP10, VAMP2, ACP2, SNX17, PTPRD, BMPR1A, STX6, TRAPPC5, EHD4, CSNK1G3, NDFIP1, FGFR1, NOMO3, UXS1, EBP, ZDHHC18, NOMO1, TRIM25MYO1DILK, PELO, SIRT7, FBXO25, CUL1, LRRK2, UBASH3B, SHC1, ATP6V1B1, ECT2, MDC1, PAXIP1, PAN2, CCDC8, EGFR, DAPK1, PEX19, VSIG4, UBB, TBC1D9B, PTEN, ZNF746, SSH1, SSH2, PSMC4, DKK3, FBXO40, TOR1AIP2, BTD, HAVCR2, EID1, NEXN, SCN3B, SSSCA1, CDH5, DNAI2, PPP6R2, LSP1, BBS7, COX15, DLST, PDHA1


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 TPCN2_MYO1D


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 TPCN2_MYO1D


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneMYO1DC0004352Autistic Disorder1CTD_human