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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: 35663

FusionGeneSummary for SPG21_NFE2L2

check button Fusion gene summary
Fusion gene informationFusion gene name: SPG21_NFE2L2
Fusion gene ID: 35663
HgeneTgene
Gene symbol

SPG21

NFE2L2

Gene ID

51324

4780

Gene nameSPG21, maspardinnuclear factor, erythroid 2 like 2
SynonymsACP33|BM-019|GL010|MASTHEBP1|IMDDHH|NRF2
Cytomap

15q22.31

2q31.2

Type of geneprotein-codingprotein-coding
Descriptionmaspardinacid cluster protein 33spastic paraplegia 21 (autosomal recessive, Mast syndrome)nuclear factor erythroid 2-related factor 2nuclear factor erythroid-derived 2-like 2
Modification date2018051920180527
UniProtAcc

Q9NZD8

Q16236

Ensembl transtripts involved in fusion geneENST00000204566, ENST00000559199, 
ENST00000433215, ENST00000416889, 
ENST00000560564, 
ENST00000397063, 
ENST00000397062, ENST00000446151, 
ENST00000464747, ENST00000423513, 
Fusion gene scores* DoF score1 X 1 X 1=19 X 14 X 5=630
# samples 115
** MAII scorelog2(1/1*10)=3.32192809488736log2(15/630*10)=-2.0703893278914
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: SPG21 [Title/Abstract] AND NFE2L2 [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
TgeneNFE2L2

GO:0010499

proteasomal ubiquitin-independent protein catabolic process

19424503

TgeneNFE2L2

GO:0016567

protein ubiquitination

15983046

TgeneNFE2L2

GO:0043161

proteasome-mediated ubiquitin-dependent protein catabolic process

15983046

TgeneNFE2L2

GO:0045944

positive regulation of transcription by RNA polymerase II

17015834

TgeneNFE2L2

GO:0071498

cellular response to fluid shear stress

25190803


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
ChiTaRS3.1DA025613SPG21chr15

65261591

-NFE2L2chr2

178098999

-
* 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-5UTRENST00000204566ENST00000397063SPG21chr15

65261591

-NFE2L2chr2

178098999

-
5CDS-5UTRENST00000204566ENST00000397062SPG21chr15

65261591

-NFE2L2chr2

178098999

-
5CDS-5UTRENST00000204566ENST00000446151SPG21chr15

65261591

-NFE2L2chr2

178098999

-
5CDS-5UTRENST00000204566ENST00000464747SPG21chr15

65261591

-NFE2L2chr2

178098999

-
5CDS-5UTRENST00000204566ENST00000423513SPG21chr15

65261591

-NFE2L2chr2

178098999

-
5CDS-5UTRENST00000559199ENST00000397063SPG21chr15

65261591

-NFE2L2chr2

178098999

-
5CDS-5UTRENST00000559199ENST00000397062SPG21chr15

65261591

-NFE2L2chr2

178098999

-
5CDS-5UTRENST00000559199ENST00000446151SPG21chr15

65261591

-NFE2L2chr2

178098999

-
5CDS-5UTRENST00000559199ENST00000464747SPG21chr15

65261591

-NFE2L2chr2

178098999

-
5CDS-5UTRENST00000559199ENST00000423513SPG21chr15

65261591

-NFE2L2chr2

178098999

-
5CDS-5UTRENST00000433215ENST00000397063SPG21chr15

65261591

-NFE2L2chr2

178098999

-
5CDS-5UTRENST00000433215ENST00000397062SPG21chr15

65261591

-NFE2L2chr2

178098999

-
5CDS-5UTRENST00000433215ENST00000446151SPG21chr15

65261591

-NFE2L2chr2

178098999

-
5CDS-5UTRENST00000433215ENST00000464747SPG21chr15

65261591

-NFE2L2chr2

178098999

-
5CDS-5UTRENST00000433215ENST00000423513SPG21chr15

65261591

-NFE2L2chr2

178098999

-
5CDS-5UTRENST00000416889ENST00000397063SPG21chr15

65261591

-NFE2L2chr2

178098999

-
5CDS-5UTRENST00000416889ENST00000397062SPG21chr15

65261591

-NFE2L2chr2

178098999

-
5CDS-5UTRENST00000416889ENST00000446151SPG21chr15

65261591

-NFE2L2chr2

178098999

-
5CDS-5UTRENST00000416889ENST00000464747SPG21chr15

65261591

-NFE2L2chr2

178098999

-
5CDS-5UTRENST00000416889ENST00000423513SPG21chr15

65261591

-NFE2L2chr2

178098999

-
intron-5UTRENST00000560564ENST00000397063SPG21chr15

65261591

-NFE2L2chr2

178098999

-
intron-5UTRENST00000560564ENST00000397062SPG21chr15

65261591

-NFE2L2chr2

178098999

-
intron-5UTRENST00000560564ENST00000446151SPG21chr15

65261591

-NFE2L2chr2

178098999

-
intron-5UTRENST00000560564ENST00000464747SPG21chr15

65261591

-NFE2L2chr2

178098999

-
intron-5UTRENST00000560564ENST00000423513SPG21chr15

65261591

-NFE2L2chr2

178098999

-

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FusionProtFeatures for SPG21_NFE2L2


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
SPG21

Q9NZD8

NFE2L2

Q16236

May play a role as a negative regulatory factor in CD4-dependent T-cell activation. {ECO:0000269|PubMed:11113139}. Transcription activator that binds to antioxidantresponse (ARE) elements in the promoter regions of target genes.Important for the coordinated up-regulation of genes in responseto oxidative stress and the regulation of cellular redoxconditions. May be involved in the transcriptional activation ofgenes of the beta-globin cluster by mediating enhancer activity ofhypersensitive site 2 of the beta-globin locus control region.{ECO:0000269|PubMed:11035812, ECO:0000269|PubMed:29018201}.

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 SPG21_NFE2L2


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 SPG21_NFE2L2


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
SPG21GGA2, AKIRIN2, TRAF2, RABAC1, CTPS2, MTMR9, ZNF263, PRPS1, CUTC, RTN4, CD4, HMGCS1, DHX40, YLPM1, GSK3A, TRIM23, CRYAA, KRT15, S100B, TCF4, TCF12, TRAF1, TFG, MID2, IKZF3, ARL6IP1, AGTRAP, TRIM54, CCDC102B, CCDC33, EFHC2, ATPAF2, FAM114A1, REEP6, DTX2, TRIM9, CMTM5, DTX3L, SPRED2, INCA1, MOV10, LMNANFE2L2CREBBP, PMF1, EIF2AK3, KEAP1, MAFK, MAFF, JUN, TRIM24, SMARCA4, CUL3, NCOR2, NCOR1, YY1, MYC, BACH1, PRKCD, PRKCA, PRKCQ, PRKCH, PRKCG, SQSTM1, GADD45GIP1, CDKN1A, GSK3B, PGAM5, UBE2E3, UBE2E2, COPS7A, ENC1, MAFG, BPTF, SUMO1, SUMO2, RNF4, SIAH2, NFE2L3, NFE2, ATF4, CREB3, AHR, KPNA3, RBMX, NQO1, BRCA1, AKT1, MAPK8, MAPK9, MAP2K1, MAP2K2, MAPK7, HDAC1, HDAC2, HDAC3, FBXW11, TNNT1, WAC, TCF20, UBC, BTRC, TRIM28, RBM45, MAF, CDH1, PAQR3, PPP1R13L, DCAF11


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 SPG21_NFE2L2


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 SPG21_NFE2L2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneSPG21C0001973Alcoholic Intoxication, Chronic1PSYGENET
TgeneNFE2L2C4277682Chemical and Drug Induced Liver Injury4CTD_human
TgeneNFE2L2C0007131Non-Small Cell Lung Carcinoma2CTD_human
TgeneNFE2L2C0033578Prostatic Neoplasms2CTD_human
TgeneNFE2L2C0007137Squamous cell carcinoma1CTD_human
TgeneNFE2L2C0008370Cholestasis1CTD_human
TgeneNFE2L2C0011881Diabetic Nephropathy1CTD_human
TgeneNFE2L2C0013990Pathological accumulation of air in tissues1CTD_human
TgeneNFE2L2C0014072Experimental Autoimmune Encephalomyelitis1CTD_human
TgeneNFE2L2C0014170Endometrial Neoplasms1CTD_human
TgeneNFE2L2C0017178Gastrointestinal Diseases1CTD_human
TgeneNFE2L2C0020456Hyperglycemia1CTD_human
TgeneNFE2L2C0020507Hyperplasia1CTD_human
TgeneNFE2L2C0022593Keratosis1CTD_human
TgeneNFE2L2C0022658Kidney Diseases1CTD_human
TgeneNFE2L2C0023890Liver Cirrhosis1CTD_human
TgeneNFE2L2C0023893Liver Cirrhosis, Experimental1CTD_human
TgeneNFE2L2C0023903Liver neoplasms1CTD_human
TgeneNFE2L2C0027540Necrosis1CTD_human
TgeneNFE2L2C0034069Pulmonary Fibrosis1CTD_human
TgeneNFE2L2C0037286Skin Neoplasms1CTD_human
TgeneNFE2L2C0041755Adverse reaction to drug1CTD_human
TgeneNFE2L2C0085215Ovarian Failure, Premature1CTD_human
TgeneNFE2L2C0162820Dermatitis, Allergic Contact1CTD_human
TgeneNFE2L2C0235032Neurotoxicity Syndromes1CTD_human
TgeneNFE2L2C0242488Acute Lung Injury1CTD_human
TgeneNFE2L2C0279626Squamous cell carcinoma of esophagus1CTD_human
TgeneNFE2L2C0400966Non-alcoholic Fatty Liver Disease1CTD_human
TgeneNFE2L2C0887833Carcinoma, Pancreatic Ductal1CTD_human
TgeneNFE2L2C2239176Liver carcinoma1CTD_human
TgeneNFE2L2C2609414Acute kidney injury1CTD_human