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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: 38948

FusionGeneSummary for TNPO3_DYM

check button Fusion gene summary
Fusion gene informationFusion gene name: TNPO3_DYM
Fusion gene ID: 38948
HgeneTgene
Gene symbol

TNPO3

DYM

Gene ID

23534

54808

Gene nametransportin 3dymeclin
SynonymsIPO12|LGMD1F|MTR10A|TRN-SR|TRN-SR2|TRNSRDMC|SMC
Cytomap

7q32.1

18q21.1

Type of geneprotein-codingprotein-coding
Descriptiontransportin-3imp12importin 12limb girdle muscular dystrophy 1F (autosomal dominant)transportin-SRdymeclindyggve-Melchior-Clausen syndrome protein
Modification date2018052320180523
UniProtAcc

Q9Y5L0

Q7RTS9

Ensembl transtripts involved in fusion geneENST00000393245, ENST00000265388, 
ENST00000482320, ENST00000471234, 
ENST00000471166, 
ENST00000442713, 
ENST00000269445, ENST00000584977, 
ENST00000578396, 
Fusion gene scores* DoF score5 X 4 X 4=808 X 5 X 8=320
# samples 59
** MAII scorelog2(5/80*10)=-0.678071905112638
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(9/320*10)=-1.83007499855769
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: TNPO3 [Title/Abstract] AND DYM [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

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
TCGARVOVTCGA-24-1426-01ATNPO3chr7

128694705

-DYMchr18

46690157

-
* 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
Frame-shiftENST00000393245ENST00000442713TNPO3chr7

128694705

-DYMchr18

46690157

-
Frame-shiftENST00000393245ENST00000269445TNPO3chr7

128694705

-DYMchr18

46690157

-
5CDS-intronENST00000393245ENST00000584977TNPO3chr7

128694705

-DYMchr18

46690157

-
5CDS-intronENST00000393245ENST00000578396TNPO3chr7

128694705

-DYMchr18

46690157

-
Frame-shiftENST00000265388ENST00000442713TNPO3chr7

128694705

-DYMchr18

46690157

-
Frame-shiftENST00000265388ENST00000269445TNPO3chr7

128694705

-DYMchr18

46690157

-
5CDS-intronENST00000265388ENST00000584977TNPO3chr7

128694705

-DYMchr18

46690157

-
5CDS-intronENST00000265388ENST00000578396TNPO3chr7

128694705

-DYMchr18

46690157

-
5UTR-3CDSENST00000482320ENST00000442713TNPO3chr7

128694705

-DYMchr18

46690157

-
5UTR-3CDSENST00000482320ENST00000269445TNPO3chr7

128694705

-DYMchr18

46690157

-
5UTR-intronENST00000482320ENST00000584977TNPO3chr7

128694705

-DYMchr18

46690157

-
5UTR-intronENST00000482320ENST00000578396TNPO3chr7

128694705

-DYMchr18

46690157

-
Frame-shiftENST00000471234ENST00000442713TNPO3chr7

128694705

-DYMchr18

46690157

-
Frame-shiftENST00000471234ENST00000269445TNPO3chr7

128694705

-DYMchr18

46690157

-
5CDS-intronENST00000471234ENST00000584977TNPO3chr7

128694705

-DYMchr18

46690157

-
5CDS-intronENST00000471234ENST00000578396TNPO3chr7

128694705

-DYMchr18

46690157

-
Frame-shiftENST00000471166ENST00000442713TNPO3chr7

128694705

-DYMchr18

46690157

-
Frame-shiftENST00000471166ENST00000269445TNPO3chr7

128694705

-DYMchr18

46690157

-
5CDS-intronENST00000471166ENST00000584977TNPO3chr7

128694705

-DYMchr18

46690157

-
5CDS-intronENST00000471166ENST00000578396TNPO3chr7

128694705

-DYMchr18

46690157

-

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FusionProtFeatures for TNPO3_DYM


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
TNPO3

Q9Y5L0

DYM

Q7RTS9

Seems to function in nuclear protein import as nucleartransport receptor. In vitro, mediates the nuclear import ofsplicing factor SR proteins RBM4, SFRS1 and SFRS2, by recognizingphosphorylated RS domains. {ECO:0000269|PubMed:10366588,ECO:0000269|PubMed:10713112, ECO:0000269|PubMed:11517331,ECO:0000269|PubMed:12628928}.

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 TNPO3_DYM


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 TNPO3_DYM


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
TNPO3C20orf24, PHLDA3, BRF2, USP19, ELAVL1, CHMP3, TNPO1, UBE3A, CA9, VCP, SMURF2, CFTR, SOX2, EGFR, CLK3, CLK2, ACTR3, ARPC2, FEN1, HNRNPH1, IPO9, PFDN6, PPP2CA, PPP3CA, ALDOA, ELAC2, PPP2R1A, TTLL12, NXF1, COMTD1, STX5, RSRP1, CD274, TMEM171, VSIG2, P2RY12, LUC7L, LYPD3, RP2, MICA, P2RX4, PTGER3, SCN2B, SCARA3, UNK, COL4A2, NTRK1, JAK3, RAD18, AK7, DUSP4, CD70, VIPR2, SIGLECL1, VASN, TMEM206, FZD10, HTR2C, ST6GAL1, ATP2B2, VSIG1, TNFRSF1A, P2RX5, BCAM, OPRM1, FCGRT, PTPRA, PTPRE, PTPRN, STOM, TRIM25DYMHS2ST1, VSIG2, PNKD, P2RY12, PTGER3, DUSP28, SIGLECL1, EPHA1, VIPR1, CHRM3, CD70, FPR2, VIPR2, FZD10, TNFSF13B, SLCO1B1, OPRM1, PTPRN


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 TNPO3_DYM


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 TNPO3_DYM


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneTNPO3C1842062MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1F1ORPHANET;UNIPROT
TgeneDYMC3888088SMITH-MCCORT DYSPLASIA 13UNIPROT
TgeneDYMC0265286Dyggve-Melchior-Clausen syndrome2CTD_human;ORPHANET;UNIPROT
TgeneDYMC0036341Schizophrenia1PSYGENET