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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: 24749

FusionGeneSummary for NPRL3_C16orf11

check button Fusion gene summary
Fusion gene informationFusion gene name: NPRL3_C16orf11
Fusion gene ID: 24749
HgeneTgene
Gene symbol

NPRL3

C16orf11

Gene ID

8131

146325

Gene nameNPR3 like, GATOR1 complex subunitproline rich 35
SynonymsC16orf35|CGTHBA|FFEVF3|HS-40|MARE|NPR3|RMD11C16orf11|LA16c-366D1.2
Cytomap

16p13.3

16p13.3

Type of geneprotein-codingprotein-coding
DescriptionGATOR complex protein NPRL3-14 gene proteinalpha-globin regulatory element-containing gene proteinconserved gene telomeric to alpha globin clusterproline-rich protein 35
Modification date2018052320180519
UniProtAcc

Q12980

Ensembl transtripts involved in fusion geneENST00000399951, ENST00000399953, 
ENST00000405960, 
ENST00000409413, 
Fusion gene scores* DoF score5 X 6 X 3=902 X 2 X 2=8
# samples 62
** MAII scorelog2(6/90*10)=-0.584962500721156
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(2/8*10)=1.32192809488736
Context

PubMed: NPRL3 [Title/Abstract] AND C16orf11 [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
TCGARVUCSTCGA-N5-A4RV-01ANPRL3chr16

160523

-C16orf11chr16

614674

+
* 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-shiftENST00000399951ENST00000409413NPRL3chr16

160523

-C16orf11chr16

614674

+
Frame-shiftENST00000399953ENST00000409413NPRL3chr16

160523

-C16orf11chr16

614674

+
5UTR-3CDSENST00000405960ENST00000409413NPRL3chr16

160523

-C16orf11chr16

614674

+

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FusionProtFeatures for NPRL3_C16orf11


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
NPRL3

Q12980

C16orf11

As a component of the GATOR1 complex functions as aninhibitor of the amino acid-sensing branch of the TORC1 pathway.The GATOR1 complex strongly increases GTP hydrolysis by RRAGA andRRAGB within RRAGC-containing heterodimers, thereby deactivatingRRAGs, releasing mTORC1 from lysosomal surface and inhibitingmTORC1 signaling. The GATOR1 complex is negatively regulated byGATOR2 the other GATOR subcomplex in this amino acid-sensingbranch of the TORC1 pathway. {ECO:0000269|PubMed:23723238}. Lectin that binds to various sugars: galactose > mannose= fucose > N-acetylglucosamine > N-acetylgalactosamine(PubMed:10224141). Acts as a chemoattractant, probably involved inthe regulation of cell migration (PubMed:28301481).{ECO:0000269|PubMed:10224141, ECO:0000269|PubMed:28301481}.

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 NPRL3_C16orf11


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 NPRL3_C16orf11


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
NPRL3NPRL2, TP53, TP63, TP73, FHL3, APPBP2, SCGN, ZNF414, CARD8, CHIA, ARHGAP25, WDR24, DEPDC5, RRAGA, C7orf60, LYPD4, DDX11, LRP1, TRIM25C16orf11


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 NPRL3_C16orf11


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 NPRL3_C16orf11


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