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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: 25273

FusionGeneSummary for NUPL2_TMC8

check button Fusion gene summary
Fusion gene informationFusion gene name: NUPL2_TMC8
Fusion gene ID: 25273
HgeneTgene
Gene symbol

NUPL2

TMC8

Gene ID

11097

147138

Gene namenucleoporin like 2transmembrane channel like 8
SynonymsCG1|NLP-1|NLP_1|hCG1EV2|EVER2|EVIN2
Cytomap

7p15.3

17q25.3

Type of geneprotein-codingprotein-coding
Descriptionnucleoporin-like protein 2H_RG271G13.9NUP42 homolognucleoporin hCG1nucleoporin-like protein 1transmembrane channel-like protein 8epidermodysplasia verruciformis 2epidermodysplasia verruciformis protein 2
Modification date2018052320180523
UniProtAcc

O15504

Q8IU68

Ensembl transtripts involved in fusion geneENST00000258742, ENST00000410002, 
ENST00000487595, 
ENST00000318430, 
ENST00000589691, ENST00000591144, 
Fusion gene scores* DoF score3 X 2 X 3=185 X 5 X 3=75
# samples 35
** MAII scorelog2(3/18*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(5/75*10)=-0.584962500721156
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: NUPL2 [Title/Abstract] AND TMC8 [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
TgeneTMC8

GO:0001558

regulation of cell growth

18158319

TgeneTMC8

GO:0032091

negative regulation of protein binding

23429285

TgeneTMC8

GO:0032460

negative regulation of protein oligomerization

23429285

TgeneTMC8

GO:0055069

zinc ion homeostasis

18158319

TgeneTMC8

GO:1902041

regulation of extrinsic apoptotic signaling pathway via death domain receptors

23429285


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
ChiTaRS3.1CR984678NUPL2chr7

23226765

+TMC8chr17

76137496

+
* 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-3UTRENST00000258742ENST00000318430NUPL2chr7

23226765

+TMC8chr17

76137496

+
5CDS-3UTRENST00000258742ENST00000589691NUPL2chr7

23226765

+TMC8chr17

76137496

+
5CDS-intronENST00000258742ENST00000591144NUPL2chr7

23226765

+TMC8chr17

76137496

+
5CDS-3UTRENST00000410002ENST00000318430NUPL2chr7

23226765

+TMC8chr17

76137496

+
5CDS-3UTRENST00000410002ENST00000589691NUPL2chr7

23226765

+TMC8chr17

76137496

+
5CDS-intronENST00000410002ENST00000591144NUPL2chr7

23226765

+TMC8chr17

76137496

+
3UTR-3UTRENST00000487595ENST00000318430NUPL2chr7

23226765

+TMC8chr17

76137496

+
3UTR-3UTRENST00000487595ENST00000589691NUPL2chr7

23226765

+TMC8chr17

76137496

+
3UTR-intronENST00000487595ENST00000591144NUPL2chr7

23226765

+TMC8chr17

76137496

+

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FusionProtFeatures for NUPL2_TMC8


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
NUPL2

O15504

TMC8

Q8IU68

Required for the export of mRNAs containing poly(A)tails from the nucleus into the cytoplasm. In case of infection byHIV-1, it may participate in the docking of viral Vpr at thenuclear envelope. {ECO:0000269|PubMed:10610322,ECO:0000269|PubMed:16000379}. Probable ion channel. {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 NUPL2_TMC8


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 NUPL2_TMC8


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


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 NUPL2_TMC8


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 NUPL2_TMC8


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