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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: 24924

FusionGeneSummary for NSG1_ENC1

check button Fusion gene summary
Fusion gene informationFusion gene name: NSG1_ENC1
Fusion gene ID: 24924
HgeneTgene
Gene symbol

NSG1

ENC1

Gene ID

27065

8507

Gene nameneuronal vesicle trafficking associated 1ectodermal-neural cortex 1
SynonymsD4S234|D4S234E|NEEP21|P21CCL28|ENC-1|KLHL35|KLHL37|NRPB|PIG10|TP53I10
Cytomap

4p16.3

5q13.3

Type of geneprotein-codingprotein-coding
Descriptionneuronal vesicle trafficking-associated protein 1brain neuron cytoplasmic protein 1carboxyterminally EE-tagged neuron-enriched endosomal 21 kDa proteinneuron specific gene family member 1neuron-enriched endosomal protein of 21 kDneuron-enriched endosectoderm-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

P42857

O14682

Ensembl transtripts involved in fusion geneENST00000421177, ENST00000513555, 
ENST00000450293, ENST00000505246, 
ENST00000506380, ENST00000397958, 
ENST00000433139, ENST00000504171, 
ENST00000302351, ENST00000510316, 
ENST00000509284, ENST00000537006, 
Fusion gene scores* DoF score3 X 3 X 1=96 X 6 X 3=108
# samples 36
** MAII scorelog2(3/9*10)=1.73696559416621
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
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: NSG1 [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
ChiTaRS3.1DA782914NSG1chr4

4389377

+ENC1chr5

73925286

-
* 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-3UTRENST00000421177ENST00000302351NSG1chr4

4389377

+ENC1chr5

73925286

-
5CDS-3UTRENST00000421177ENST00000510316NSG1chr4

4389377

+ENC1chr5

73925286

-
5CDS-intronENST00000421177ENST00000509284NSG1chr4

4389377

+ENC1chr5

73925286

-
5CDS-intronENST00000421177ENST00000537006NSG1chr4

4389377

+ENC1chr5

73925286

-
5CDS-3UTRENST00000513555ENST00000302351NSG1chr4

4389377

+ENC1chr5

73925286

-
5CDS-3UTRENST00000513555ENST00000510316NSG1chr4

4389377

+ENC1chr5

73925286

-
5CDS-intronENST00000513555ENST00000509284NSG1chr4

4389377

+ENC1chr5

73925286

-
5CDS-intronENST00000513555ENST00000537006NSG1chr4

4389377

+ENC1chr5

73925286

-
intron-3UTRENST00000450293ENST00000302351NSG1chr4

4389377

+ENC1chr5

73925286

-
intron-3UTRENST00000450293ENST00000510316NSG1chr4

4389377

+ENC1chr5

73925286

-
intron-intronENST00000450293ENST00000509284NSG1chr4

4389377

+ENC1chr5

73925286

-
intron-intronENST00000450293ENST00000537006NSG1chr4

4389377

+ENC1chr5

73925286

-
5CDS-3UTRENST00000505246ENST00000302351NSG1chr4

4389377

+ENC1chr5

73925286

-
5CDS-3UTRENST00000505246ENST00000510316NSG1chr4

4389377

+ENC1chr5

73925286

-
5CDS-intronENST00000505246ENST00000509284NSG1chr4

4389377

+ENC1chr5

73925286

-
5CDS-intronENST00000505246ENST00000537006NSG1chr4

4389377

+ENC1chr5

73925286

-
5CDS-3UTRENST00000506380ENST00000302351NSG1chr4

4389377

+ENC1chr5

73925286

-
5CDS-3UTRENST00000506380ENST00000510316NSG1chr4

4389377

+ENC1chr5

73925286

-
5CDS-intronENST00000506380ENST00000509284NSG1chr4

4389377

+ENC1chr5

73925286

-
5CDS-intronENST00000506380ENST00000537006NSG1chr4

4389377

+ENC1chr5

73925286

-
5CDS-3UTRENST00000397958ENST00000302351NSG1chr4

4389377

+ENC1chr5

73925286

-
5CDS-3UTRENST00000397958ENST00000510316NSG1chr4

4389377

+ENC1chr5

73925286

-
5CDS-intronENST00000397958ENST00000509284NSG1chr4

4389377

+ENC1chr5

73925286

-
5CDS-intronENST00000397958ENST00000537006NSG1chr4

4389377

+ENC1chr5

73925286

-
5CDS-3UTRENST00000433139ENST00000302351NSG1chr4

4389377

+ENC1chr5

73925286

-
5CDS-3UTRENST00000433139ENST00000510316NSG1chr4

4389377

+ENC1chr5

73925286

-
5CDS-intronENST00000433139ENST00000509284NSG1chr4

4389377

+ENC1chr5

73925286

-
5CDS-intronENST00000433139ENST00000537006NSG1chr4

4389377

+ENC1chr5

73925286

-
5CDS-3UTRENST00000504171ENST00000302351NSG1chr4

4389377

+ENC1chr5

73925286

-
5CDS-3UTRENST00000504171ENST00000510316NSG1chr4

4389377

+ENC1chr5

73925286

-
5CDS-intronENST00000504171ENST00000509284NSG1chr4

4389377

+ENC1chr5

73925286

-
5CDS-intronENST00000504171ENST00000537006NSG1chr4

4389377

+ENC1chr5

73925286

-

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FusionProtFeatures for NSG1_ENC1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
NSG1

P42857

ENC1

O14682

Plays a role in the recycling mechanism in neurons ofmultiple receptors, including AMPAR, APP and L1CAM and acts at thelevel of early endosomes to promote sorting of receptors toward arecycling pathway. Regulates sorting and recycling of GRIA2through interaction with GRIP1 and then contributes to theregulation of synaptic transmission and plasticity by affectingthe recycling and targeting of AMPA receptors to the synapse (Bysimilarity). Is required for faithful sorting of L1CAM to axons byfacilitating trafficking from somatodendritic early endosome orthe recycling endosome (By similarity). In an other hand, inducesapoptosis via the activation of CASP3 in response to DNA damage(PubMed:20599942, PubMed:20878061). {ECO:0000250|UniProtKB:P02683,ECO:0000250|UniProtKB:Q62092, ECO:0000269|PubMed:20599942,ECO:0000269|PubMed:20878061}. 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 NSG1_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 NSG1_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


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 NSG1_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 NSG1_ENC1


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