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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: 38931

FusionGeneSummary for TNPO1_ENC1

check button Fusion gene summary
Fusion gene informationFusion gene name: TNPO1_ENC1
Fusion gene ID: 38931
HgeneTgene
Gene symbol

TNPO1

ENC1

Gene ID

3842

8507

Gene nametransportin 1ectodermal-neural cortex 1
SynonymsIPO2|KPNB2|MIP|MIP1|TRNCCL28|ENC-1|KLHL35|KLHL37|NRPB|PIG10|TP53I10
Cytomap

5q13.2

5q13.3

Type of geneprotein-codingprotein-coding
Descriptiontransportin-1M9 region interaction proteinimportin 2importin beta 2karyopherin (importin) beta 2karyopherin beta-2ectoderm-neural cortex protein 1ectodermal-neural cortex 1 (with BTB domain)ectodermal-neural cortex 1 (with BTB-like domain)kelch-like 35kelch-like family member 37kelch-like protein 37nuclear matrix protein NRP/Bnuclear restricted protein, BTB do
Modification date2018052320180523
UniProtAcc

Q92973

O14682

Ensembl transtripts involved in fusion geneENST00000337273, ENST00000454282, 
ENST00000447967, ENST00000523768, 
ENST00000513944, ENST00000506351, 
ENST00000302351, ENST00000510316, 
ENST00000509284, ENST00000537006, 
Fusion gene scores* DoF score7 X 6 X 6=2526 X 6 X 3=108
# samples 86
** MAII scorelog2(8/252*10)=-1.65535182861255
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: TNPO1 [Title/Abstract] AND ENC1 [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
TgeneENC1

GO:0010499

proteasomal ubiquitin-independent protein catabolic process

19424503

TgeneENC1

GO:0016567

protein ubiquitination

15983046

TgeneENC1

GO:0017148

negative regulation of translation

19424503


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-EJ-5519-01ATNPO1chr5

72168547

+ENC1chr5

73933526

-
TCGALDPRADTCGA-EJ-5519-01ATNPO1chr5

72168547

+ENC1chr5

73933443

-
* 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-intronENST00000337273ENST00000302351TNPO1chr5

72168547

+ENC1chr5

73933526

-
5CDS-intronENST00000337273ENST00000510316TNPO1chr5

72168547

+ENC1chr5

73933526

-
5CDS-intronENST00000337273ENST00000509284TNPO1chr5

72168547

+ENC1chr5

73933526

-
5CDS-intronENST00000337273ENST00000537006TNPO1chr5

72168547

+ENC1chr5

73933526

-
5CDS-intronENST00000454282ENST00000302351TNPO1chr5

72168547

+ENC1chr5

73933526

-
5CDS-intronENST00000454282ENST00000510316TNPO1chr5

72168547

+ENC1chr5

73933526

-
5CDS-intronENST00000454282ENST00000509284TNPO1chr5

72168547

+ENC1chr5

73933526

-
5CDS-intronENST00000454282ENST00000537006TNPO1chr5

72168547

+ENC1chr5

73933526

-
3UTR-intronENST00000447967ENST00000302351TNPO1chr5

72168547

+ENC1chr5

73933526

-
3UTR-intronENST00000447967ENST00000510316TNPO1chr5

72168547

+ENC1chr5

73933526

-
3UTR-intronENST00000447967ENST00000509284TNPO1chr5

72168547

+ENC1chr5

73933526

-
3UTR-intronENST00000447967ENST00000537006TNPO1chr5

72168547

+ENC1chr5

73933526

-
5CDS-intronENST00000523768ENST00000302351TNPO1chr5

72168547

+ENC1chr5

73933526

-
5CDS-intronENST00000523768ENST00000510316TNPO1chr5

72168547

+ENC1chr5

73933526

-
5CDS-intronENST00000523768ENST00000509284TNPO1chr5

72168547

+ENC1chr5

73933526

-
5CDS-intronENST00000523768ENST00000537006TNPO1chr5

72168547

+ENC1chr5

73933526

-
intron-intronENST00000513944ENST00000302351TNPO1chr5

72168547

+ENC1chr5

73933526

-
intron-intronENST00000513944ENST00000510316TNPO1chr5

72168547

+ENC1chr5

73933526

-
intron-intronENST00000513944ENST00000509284TNPO1chr5

72168547

+ENC1chr5

73933526

-
intron-intronENST00000513944ENST00000537006TNPO1chr5

72168547

+ENC1chr5

73933526

-
5CDS-intronENST00000506351ENST00000302351TNPO1chr5

72168547

+ENC1chr5

73933526

-
5CDS-intronENST00000506351ENST00000510316TNPO1chr5

72168547

+ENC1chr5

73933526

-
5CDS-intronENST00000506351ENST00000509284TNPO1chr5

72168547

+ENC1chr5

73933526

-
5CDS-intronENST00000506351ENST00000537006TNPO1chr5

72168547

+ENC1chr5

73933526

-
5CDS-intronENST00000337273ENST00000302351TNPO1chr5

72168547

+ENC1chr5

73933443

-
5CDS-intronENST00000337273ENST00000510316TNPO1chr5

72168547

+ENC1chr5

73933443

-
5CDS-intronENST00000337273ENST00000509284TNPO1chr5

72168547

+ENC1chr5

73933443

-
5CDS-intronENST00000337273ENST00000537006TNPO1chr5

72168547

+ENC1chr5

73933443

-
5CDS-intronENST00000454282ENST00000302351TNPO1chr5

72168547

+ENC1chr5

73933443

-
5CDS-intronENST00000454282ENST00000510316TNPO1chr5

72168547

+ENC1chr5

73933443

-
5CDS-intronENST00000454282ENST00000509284TNPO1chr5

72168547

+ENC1chr5

73933443

-
5CDS-intronENST00000454282ENST00000537006TNPO1chr5

72168547

+ENC1chr5

73933443

-
3UTR-intronENST00000447967ENST00000302351TNPO1chr5

72168547

+ENC1chr5

73933443

-
3UTR-intronENST00000447967ENST00000510316TNPO1chr5

72168547

+ENC1chr5

73933443

-
3UTR-intronENST00000447967ENST00000509284TNPO1chr5

72168547

+ENC1chr5

73933443

-
3UTR-intronENST00000447967ENST00000537006TNPO1chr5

72168547

+ENC1chr5

73933443

-
5CDS-intronENST00000523768ENST00000302351TNPO1chr5

72168547

+ENC1chr5

73933443

-
5CDS-intronENST00000523768ENST00000510316TNPO1chr5

72168547

+ENC1chr5

73933443

-
5CDS-intronENST00000523768ENST00000509284TNPO1chr5

72168547

+ENC1chr5

73933443

-
5CDS-intronENST00000523768ENST00000537006TNPO1chr5

72168547

+ENC1chr5

73933443

-
intron-intronENST00000513944ENST00000302351TNPO1chr5

72168547

+ENC1chr5

73933443

-
intron-intronENST00000513944ENST00000510316TNPO1chr5

72168547

+ENC1chr5

73933443

-
intron-intronENST00000513944ENST00000509284TNPO1chr5

72168547

+ENC1chr5

73933443

-
intron-intronENST00000513944ENST00000537006TNPO1chr5

72168547

+ENC1chr5

73933443

-
5CDS-intronENST00000506351ENST00000302351TNPO1chr5

72168547

+ENC1chr5

73933443

-
5CDS-intronENST00000506351ENST00000510316TNPO1chr5

72168547

+ENC1chr5

73933443

-
5CDS-intronENST00000506351ENST00000509284TNPO1chr5

72168547

+ENC1chr5

73933443

-
5CDS-intronENST00000506351ENST00000537006TNPO1chr5

72168547

+ENC1chr5

73933443

-

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FusionProtFeatures for TNPO1_ENC1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
TNPO1

Q92973

ENC1

O14682

Functions in nuclear protein import as nuclear transportreceptor. Serves as receptor for nuclear localization signals(NLS) in cargo substrates (PubMed:24753571). Is thought to mediatedocking of the importin/substrate complex to the nuclear porecomplex (NPC) through binding to nucleoporin and the complex issubsequently translocated through the pore by an energy requiring,Ran-dependent mechanism. At the nucleoplasmic side of the NPC, Ranbinds to the importin, the importin/substrate complex dissociatesand importin is re-exported from the nucleus to the cytoplasmwhere GTP hydrolysis releases Ran. The directionality of nuclearimport is thought to be conferred by an asymmetric distribution ofthe GTP- and GDP-bound forms of Ran between the cytoplasm andnucleus (By similarity). Involved in nuclear import of M9-containing proteins. In vitro, binds directly to the M9 region ofthe heterogeneous nuclear ribonucleoproteins (hnRNP), A1 and A2and mediates their nuclear import. Appears also to be involved inhnRNP A1/A2 nuclear export. Mediates the nuclear import ofribosomal proteins RPL23A, RPS7 and RPL5. Binds to a beta-likeimport receptor binding (BIB) domain of RPL23A. In vitro, mediatesnuclear import of H2A, H2B, H3 and H4 histones, and SRP19 (Bysimilarity). Mediates nuclear import of ADAR/ADAR1 isoform 1 andisoform 5 in a RanGTP-dependent manner (PubMed:19124606,PubMed:24753571). {ECO:0000250|UniProtKB:Q8BFY9,ECO:0000269|PubMed:11682607, ECO:0000269|PubMed:19124606,ECO:0000269|PubMed:24753571, ECO:0000269|PubMed:8986607,ECO:0000269|PubMed:9687515}. (Microbial infection) In case of HIV-1 infection, bindsand mediates the nuclear import of HIV-1 Rev.{ECO:0000269|PubMed:16704975}. Actin-binding protein involved in the regulation ofneuronal process formation and in differentiation of neural crestcells. Down-regulates transcription factor NF2L2/NRF2 bydecreasing the rate of protein synthesis and not via a ubiquitin-mediated proteasomal degradation mechanism.{ECO:0000269|PubMed:19424503}.

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 TNPO1_ENC1


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 TNPO1_ENC1


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
TNPO1RGPD5, SRP19, RPL23A, RAN, NUP98, PABPN1, TCEA2, CD4, MME, HDAC5, SIRT7, NXF1, NDN, IPO5, VPS16, TNPO3, WRAP53, SNRPA, NOTCH1, CA9, LRRK2, NFATC2, ITGA4, SOX2, EGFR, IPO4, IPO7, IREB2, PPP2CA, IPO9, PPP3CA, RRM1, VBP1, TXNRD1, PHKG2, CUL7, OBSL1, CCDC8, CD274, VSIG2, TUSC5, HTR6, IPO8, RANBP6, BYSL, GAR1, TUBA4A, TUBB3, NTRK1, STIL, ERBB2, XRCC3, AKAP5, NUP153, TMEM63B, ENTHD2, MBOAT1, SUCO, CDC5L, SIGLECL1, TMA16, PTPRA, PTPRE, PTPRN, STOM, TRIM25, G3BP1, BRCA1ENC1RB1, CUL3, RBX1, KEAP1, NACC1, NFE2L2, SNCA, HSP90AA1, ACTB, ENC1, SQSTM1, KLHL25, NUDCD3, PLIN5


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 TNPO1_ENC1


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 TNPO1_ENC1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneENC1C0023893Liver Cirrhosis, Experimental1CTD_human