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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: 24182

FusionGeneSummary for NFE2L1_PRKCSH

check button Fusion gene summary
Fusion gene informationFusion gene name: NFE2L1_PRKCSH
Fusion gene ID: 24182
HgeneTgene
Gene symbol

NFE2L1

PRKCSH

Gene ID

4779

5589

Gene namenuclear factor, erythroid 2 like 1protein kinase C substrate 80K-H
SynonymsLCR-F1|NRF1|TCF11AGE-R2|G19P1|GIIB|PCLD|PCLD1|PKCSH|PLD1|VASAP-60
Cytomap

17q21.32

19p13.2

Type of geneprotein-codingprotein-coding
Descriptionendoplasmic reticulum membrane sensor NFE2L1NF-E2-related factor 1NFE2-related factor 1TCF-11locus control region-factor 1nuclear factor erythroid 2-related factor 1nuclear factor, erythroid derived 2, like 1protein NRF1, p120 formtranscription faglucosidase 2 subunit betaAGE-binding receptor 2advanced glycation end-product receptor 2glucosidase II subunit betahepatocystinprotein kinase C substrate 60.1 kDa protein heavy chainprotein kinase C substrate, 80 Kda protein
Modification date2018052320180522
UniProtAcc

Q14494

P14314

Ensembl transtripts involved in fusion geneENST00000362042, ENST00000585291, 
ENST00000357480, ENST00000361665, 
ENST00000579481, ENST00000582155, 
ENST00000583378, ENST00000536222, 
ENST00000591462, ENST00000252455, 
ENST00000412601, ENST00000592741, 
ENST00000587327, ENST00000589838, 
ENST00000591510, 
Fusion gene scores* DoF score14 X 9 X 10=12608 X 9 X 5=360
# samples 1410
** MAII scorelog2(14/1260*10)=-3.16992500144231
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(10/360*10)=-1.84799690655495
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: NFE2L1 [Title/Abstract] AND PRKCSH [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
ChiTaRS3.1BI001011NFE2L1chr17

46133531

+PRKCSHchr19

11553215

+
* 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
intron-3CDSENST00000362042ENST00000591462NFE2L1chr17

46133531

+PRKCSHchr19

11553215

+
intron-3CDSENST00000362042ENST00000252455NFE2L1chr17

46133531

+PRKCSHchr19

11553215

+
intron-3CDSENST00000362042ENST00000412601NFE2L1chr17

46133531

+PRKCSHchr19

11553215

+
intron-3CDSENST00000362042ENST00000592741NFE2L1chr17

46133531

+PRKCSHchr19

11553215

+
intron-3CDSENST00000362042ENST00000587327NFE2L1chr17

46133531

+PRKCSHchr19

11553215

+
intron-3CDSENST00000362042ENST00000589838NFE2L1chr17

46133531

+PRKCSHchr19

11553215

+
intron-intronENST00000362042ENST00000591510NFE2L1chr17

46133531

+PRKCSHchr19

11553215

+
intron-3CDSENST00000585291ENST00000591462NFE2L1chr17

46133531

+PRKCSHchr19

11553215

+
intron-3CDSENST00000585291ENST00000252455NFE2L1chr17

46133531

+PRKCSHchr19

11553215

+
intron-3CDSENST00000585291ENST00000412601NFE2L1chr17

46133531

+PRKCSHchr19

11553215

+
intron-3CDSENST00000585291ENST00000592741NFE2L1chr17

46133531

+PRKCSHchr19

11553215

+
intron-3CDSENST00000585291ENST00000587327NFE2L1chr17

46133531

+PRKCSHchr19

11553215

+
intron-3CDSENST00000585291ENST00000589838NFE2L1chr17

46133531

+PRKCSHchr19

11553215

+
intron-intronENST00000585291ENST00000591510NFE2L1chr17

46133531

+PRKCSHchr19

11553215

+
intron-3CDSENST00000357480ENST00000591462NFE2L1chr17

46133531

+PRKCSHchr19

11553215

+
intron-3CDSENST00000357480ENST00000252455NFE2L1chr17

46133531

+PRKCSHchr19

11553215

+
intron-3CDSENST00000357480ENST00000412601NFE2L1chr17

46133531

+PRKCSHchr19

11553215

+
intron-3CDSENST00000357480ENST00000592741NFE2L1chr17

46133531

+PRKCSHchr19

11553215

+
intron-3CDSENST00000357480ENST00000587327NFE2L1chr17

46133531

+PRKCSHchr19

11553215

+
intron-3CDSENST00000357480ENST00000589838NFE2L1chr17

46133531

+PRKCSHchr19

11553215

+
intron-intronENST00000357480ENST00000591510NFE2L1chr17

46133531

+PRKCSHchr19

11553215

+
intron-3CDSENST00000361665ENST00000591462NFE2L1chr17

46133531

+PRKCSHchr19

11553215

+
intron-3CDSENST00000361665ENST00000252455NFE2L1chr17

46133531

+PRKCSHchr19

11553215

+
intron-3CDSENST00000361665ENST00000412601NFE2L1chr17

46133531

+PRKCSHchr19

11553215

+
intron-3CDSENST00000361665ENST00000592741NFE2L1chr17

46133531

+PRKCSHchr19

11553215

+
intron-3CDSENST00000361665ENST00000587327NFE2L1chr17

46133531

+PRKCSHchr19

11553215

+
intron-3CDSENST00000361665ENST00000589838NFE2L1chr17

46133531

+PRKCSHchr19

11553215

+
intron-intronENST00000361665ENST00000591510NFE2L1chr17

46133531

+PRKCSHchr19

11553215

+
intron-3CDSENST00000579481ENST00000591462NFE2L1chr17

46133531

+PRKCSHchr19

11553215

+
intron-3CDSENST00000579481ENST00000252455NFE2L1chr17

46133531

+PRKCSHchr19

11553215

+
intron-3CDSENST00000579481ENST00000412601NFE2L1chr17

46133531

+PRKCSHchr19

11553215

+
intron-3CDSENST00000579481ENST00000592741NFE2L1chr17

46133531

+PRKCSHchr19

11553215

+
intron-3CDSENST00000579481ENST00000587327NFE2L1chr17

46133531

+PRKCSHchr19

11553215

+
intron-3CDSENST00000579481ENST00000589838NFE2L1chr17

46133531

+PRKCSHchr19

11553215

+
intron-intronENST00000579481ENST00000591510NFE2L1chr17

46133531

+PRKCSHchr19

11553215

+
intron-3CDSENST00000582155ENST00000591462NFE2L1chr17

46133531

+PRKCSHchr19

11553215

+
intron-3CDSENST00000582155ENST00000252455NFE2L1chr17

46133531

+PRKCSHchr19

11553215

+
intron-3CDSENST00000582155ENST00000412601NFE2L1chr17

46133531

+PRKCSHchr19

11553215

+
intron-3CDSENST00000582155ENST00000592741NFE2L1chr17

46133531

+PRKCSHchr19

11553215

+
intron-3CDSENST00000582155ENST00000587327NFE2L1chr17

46133531

+PRKCSHchr19

11553215

+
intron-3CDSENST00000582155ENST00000589838NFE2L1chr17

46133531

+PRKCSHchr19

11553215

+
intron-intronENST00000582155ENST00000591510NFE2L1chr17

46133531

+PRKCSHchr19

11553215

+
intron-3CDSENST00000583378ENST00000591462NFE2L1chr17

46133531

+PRKCSHchr19

11553215

+
intron-3CDSENST00000583378ENST00000252455NFE2L1chr17

46133531

+PRKCSHchr19

11553215

+
intron-3CDSENST00000583378ENST00000412601NFE2L1chr17

46133531

+PRKCSHchr19

11553215

+
intron-3CDSENST00000583378ENST00000592741NFE2L1chr17

46133531

+PRKCSHchr19

11553215

+
intron-3CDSENST00000583378ENST00000587327NFE2L1chr17

46133531

+PRKCSHchr19

11553215

+
intron-3CDSENST00000583378ENST00000589838NFE2L1chr17

46133531

+PRKCSHchr19

11553215

+
intron-intronENST00000583378ENST00000591510NFE2L1chr17

46133531

+PRKCSHchr19

11553215

+
intron-3CDSENST00000536222ENST00000591462NFE2L1chr17

46133531

+PRKCSHchr19

11553215

+
intron-3CDSENST00000536222ENST00000252455NFE2L1chr17

46133531

+PRKCSHchr19

11553215

+
intron-3CDSENST00000536222ENST00000412601NFE2L1chr17

46133531

+PRKCSHchr19

11553215

+
intron-3CDSENST00000536222ENST00000592741NFE2L1chr17

46133531

+PRKCSHchr19

11553215

+
intron-3CDSENST00000536222ENST00000587327NFE2L1chr17

46133531

+PRKCSHchr19

11553215

+
intron-3CDSENST00000536222ENST00000589838NFE2L1chr17

46133531

+PRKCSHchr19

11553215

+
intron-intronENST00000536222ENST00000591510NFE2L1chr17

46133531

+PRKCSHchr19

11553215

+

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FusionProtFeatures for NFE2L1_PRKCSH


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
NFE2L1

Q14494

PRKCSH

P14314

Endoplasmic reticulum membrane sensor NFE2L1:Endoplasmic reticulum membrane sensor that translocates into thenucleus in response to various stresses to act as a transcriptionfactor (PubMed:20932482, PubMed:24448410). Constitutes a precursorof the transcription factor NRF1 (By similarity). Able to detectvarious cellular stresses, such as cholesterol excess, oxidativestress or proteasome inhibition (PubMed:20932482). In response tostress, it is released from the endoplasmic reticulum membranefollowing cleavage by the protease DDI2 and translocates into thenucleus to form the transcription factor NRF1 (By similarity).Acts as a key sensor of cholesterol excess: in excess cholesterolconditions, the endoplasmic reticulum membrane form of the proteindirectly binds cholesterol via its CRAC motif, preventing cleavageand release of the transcription factor NRF1, thereby allowingexpression of genes promoting cholesterol removal, such as CD36(By similarity). Involved in proteasome homeostasis: in responseto proteasome inhibition, it is released from the endoplasmicreticulum membrane, translocates to the nucleus and activatesexpression of genes encoding proteasome subunits(PubMed:20932482). {ECO:0000250|UniProtKB:Q61985,ECO:0000269|PubMed:20932482, ECO:0000269|PubMed:24448410}. Transcription factor NRF1: CNC-type bZIP familytranscription factor that translocates to the nucleus andregulates expression of target genes in response to variousstresses (PubMed:8932385, PubMed:9421508). Heterodimerizes withsmall-Maf proteins (MAFF, MAFG or MAFK) and binds DNA motifsincluding the antioxidant response elements (AREs), which regulateexpression of genes involved in oxidative stress response(PubMed:8932385, PubMed:9421508). Activates or repressesexpression of target genes, depending on the context(PubMed:8932385, PubMed:9421508). Plays a key role in cholesterolhomeostasis by acting as a sensor of cholesterol excess: in lowcholesterol conditions, translocates into the nucleus andrepresses expression of genes involved in defense againstcholesterol excess, such as CD36 (By similarity). In excesscholesterol conditions, the endoplasmic reticulum membrane form ofthe protein directly binds cholesterol via its CRAC motif,preventing cleavage and release of the transcription factor NRF1,thereby allowing expression of genes promoting cholesterol removal(By similarity). Critical for redox balance in response tooxidative stress: acts by binding the AREs motifs on promoters andmediating activation of oxidative stress response genes, such asGCLC, GCLM, GSS, MT1 and MT2 (By similarity). Plays an essentialrole during fetal liver hematopoiesis: probably has a protectivefunction against oxidative stress and is involved in lipidhomeostasis in the liver (By similarity). Involved in proteasomehomeostasis: in response to proteasome inhibition, mediates the'bounce-back' of proteasome subunits by translocating into thenucleus and activating expression of genes encoding proteasomesubunits (PubMed:20932482). Also involved in regulating glucoseflux (By similarity). Together with CEBPB; represses expression ofDSPP during odontoblast differentiation (PubMed:15308669). Inresponse to ascorbic acid induction, activates expression ofSP7/Osterix in osteoblasts. {ECO:0000250|UniProtKB:Q61985,ECO:0000269|PubMed:15308669, ECO:0000269|PubMed:20932482,ECO:0000269|PubMed:8932385, ECO:0000269|PubMed:9421508}. Regulatory subunit of glucosidase II that cleavessequentially the 2 innermost alpha-1,3-linked glucose residuesfrom the Glc(2)Man(9)GlcNAc(2) oligosaccharide precursor ofimmature glycoproteins. {ECO:0000269|PubMed:10929008}.

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 NFE2L1_PRKCSH


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 NFE2L1_PRKCSH


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 NFE2L1_PRKCSH


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 NFE2L1_PRKCSH


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgenePRKCSHC0158683Polycystic liver disease2CTD_human;HPO;ORPHANET
TgenePRKCSHC0022680Polycystic Kidney Diseases1CTD_human