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Center for Computational Systems Medicine level1
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Fusion Gene Summary

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Fusion Gene Sample Information

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Fusion ORF Analysis

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Fusion Amino Acid Sequences

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Fusion Protein Functional Features

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Fusion Protein-Protein Interaction

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Related drugs with this fusion protein

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Related disease with this fusion protein

Fusion Protein:NRF1-PDIA4

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: NRF1-PDIA4
FusionPDB ID: 60265
FusionGDB2.0 ID: 60265
HgeneTgene
Gene symbol

NRF1

PDIA4

Gene ID

4899

9601

Gene namenuclear respiratory factor 1protein disulfide isomerase family A member 4
SynonymsALPHA-PALERP70|ERP72|ERp-72
Cytomap

7q32.2

7q36.1

Type of geneprotein-codingprotein-coding
Descriptionnuclear respiratory factor 1alpha palindromic-binding proteinprotein disulfide-isomerase A4ER protein 70ER protein 72endoplasmic reticulum resident protein 70endoplasmic reticulum resident protein 72protein disulfide isomerase related protein (calcium-binding protein, intestinal-related)protein disulfide isom
Modification date2020032920200313
UniProtAcc

Q16656

.
Ensembl transtripts involved in fusion geneENST idsENST00000223190, ENST00000311967, 
ENST00000353868, ENST00000393230, 
ENST00000393231, ENST00000393232, 
ENST00000539636, ENST00000477428, 
ENST00000286091, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score14 X 9 X 8=10085 X 4 X 4=80
# samples 165
** MAII scorelog2(16/1008*10)=-2.65535182861255
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(5/80*10)=-0.678071905112638
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)

PubMed: NRF1 [Title/Abstract] AND PDIA4 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)NRF1(129367205)-PDIA4(148718239), # samples:1
Anticipated loss of major functional domain due to fusion event.NRF1-PDIA4 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
NRF1-PDIA4 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
NRF1-PDIA4 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.
NRF1-PDIA4 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.
* 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 buttonFusion gene breakpoints across NRF1 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

check buttonFusion gene breakpoints across PDIA4 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure


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Fusion Gene Sample Information

check buttonFusion gene information from FusionGDB2.0.
check button Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0)
* 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.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChimerDB4PRADTCGA-EJ-A8FU-01ANRF1chr7

129367205

+PDIA4chr7

148718239

-


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Fusion ORF Analysis


check buttonFusion information from ORFfinder translation from full-length transcript sequence from FusionPDB.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)
BP loci
(transcript)
Predicted start
(transcript)
Predicted stop
(transcript)
Seq length
(amino acids)
ENST00000393232NRF1chr7129367205+ENST00000286091PDIA4chr7148718239-4047146511733141065
ENST00000353868NRF1chr7129367205+ENST00000286091PDIA4chr7148718239-384912671173116999
ENST00000539636NRF1chr7129367205+ENST00000286091PDIA4chr7148718239-391013284333177914
ENST00000311967NRF1chr7129367205+ENST00000286091PDIA4chr7148718239-400814267832751065
ENST00000223190NRF1chr7129367205+ENST00000286091PDIA4chr7148718239-400814267832751065
ENST00000393230NRF1chr7129367205+ENST00000286091PDIA4chr7148718239-4040145811033071065
ENST00000393231NRF1chr7129367205+ENST00000286091PDIA4chr7148718239-39311349131981065

check buttonDeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score
ENST00000393232ENST00000286091NRF1chr7129367205+PDIA4chr7148718239-0.0014335110.99856657
ENST00000353868ENST00000286091NRF1chr7129367205+PDIA4chr7148718239-0.0021299410.9978701
ENST00000539636ENST00000286091NRF1chr7129367205+PDIA4chr7148718239-0.0013215210.9986785
ENST00000311967ENST00000286091NRF1chr7129367205+PDIA4chr7148718239-0.0012617340.9987382
ENST00000223190ENST00000286091NRF1chr7129367205+PDIA4chr7148718239-0.0012617340.9987382
ENST00000393230ENST00000286091NRF1chr7129367205+PDIA4chr7148718239-0.0010351580.9989648
ENST00000393231ENST00000286091NRF1chr7129367205+PDIA4chr7148718239-0.001034080.998966

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Fusion Amino Acid Sequences


check button For individual full-length fusion transcript sequence from FusionPDB, we ran ORFfinder and chose the longest ORF among the all predicted ones.
>FusionGDB ID_FusionGDB isoform ID_FGname_Hgene_Hchr_Hbp_Henst_Tgene_Tchr_Tbp_Tenst_length(fusion AA) seq_BP

>60265_60265_1_NRF1-PDIA4_NRF1_chr7_129367205_ENST00000223190_PDIA4_chr7_148718239_ENST00000286091_length(amino acids)=1065AA_BP=449
MEEHGVTQTEHMATIEAHAVAQQVQQVHVATYTEHSMLSADEDSPSSPEDTSYDDSDILNSTAADEVTAHLAAAGPVGMAAAAAVATGKK
RKRPHVFESNPSIRKRQQTRLLRKLRATLDEYTTRVGQQAIVLCISPSKPNPVFKVFGAAPLENVVRKYKSMILEDLESALAEHAPAPQE
VNSELPPLTIDGIPVSVDKMTQAQLRAFIPEMLKYSTGRGKPGWGKESCKPIWWPEDIPWANVRSDVRTEEQKQRVSWTQALRTIVKNCY
KQHGREDLLYAFEDQQTQTQATATHSIAHLVPSQTVVQTFSNPDGTVSLIQVGTGATVATLADASELPTTVTVAQVNYSAVADGEVEQNW
ATLQGGEMTIQTTQASEATQAVASLAEAAVAASQEMQQGATVTMALNSEAAAHAVATLAEATLQGGGQIVLSGETAAAVGALTGVQDAND
SSNRENAIEDEEEEEEEDDDEEEDDLEVKEENGVLVLNDANFDNFVADKDTVLLEFYAPWCGHCKQFAPEYEKIANILKDKDPPIPVAKI
DATSASVLASRFDVSGYPTIKILKKGQAVDYEGSRTQEEIVAKVREVSQPDWTPPPEVTLVLTKENFDEVVNDADIILVEFYAPWCGHCK
KLAPEYEKAAKELSKRSPPIPLAKVDATAETDLAKRFDVSGYPTLKIFRKGRPYDYNGPREKYGIVDYMIEQSGPPSKEILTLKQVQEFL
KDGDDVIIIGVFKGESDPAYQQYQDAANNLREDYKFHHTFSTEIAKFLKVSQGQLVVMQPEKFQSKYEPRSHMMDVQGSTQDSAIKDFVL
KYALPLVGHRKVSNDAKRYTRRPLVVVYYSVDFSFDYRAATQFWRSKVLEVAKDFPEYTFAIADEEDYAGEVKDLGLSESGEDVNAAILD
ESGKKFAMEPEEFDSDTLREFVTAFKKGKLKPVIKSQPVPKNNKGPVKVVVGKTFDSIVMDPKKDVLIEFYAPWCGHCKQLEPVYNSLAK

--------------------------------------------------------------

>60265_60265_2_NRF1-PDIA4_NRF1_chr7_129367205_ENST00000311967_PDIA4_chr7_148718239_ENST00000286091_length(amino acids)=1065AA_BP=449
MEEHGVTQTEHMATIEAHAVAQQVQQVHVATYTEHSMLSADEDSPSSPEDTSYDDSDILNSTAADEVTAHLAAAGPVGMAAAAAVATGKK
RKRPHVFESNPSIRKRQQTRLLRKLRATLDEYTTRVGQQAIVLCISPSKPNPVFKVFGAAPLENVVRKYKSMILEDLESALAEHAPAPQE
VNSELPPLTIDGIPVSVDKMTQAQLRAFIPEMLKYSTGRGKPGWGKESCKPIWWPEDIPWANVRSDVRTEEQKQRVSWTQALRTIVKNCY
KQHGREDLLYAFEDQQTQTQATATHSIAHLVPSQTVVQTFSNPDGTVSLIQVGTGATVATLADASELPTTVTVAQVNYSAVADGEVEQNW
ATLQGGEMTIQTTQASEATQAVASLAEAAVAASQEMQQGATVTMALNSEAAAHAVATLAEATLQGGGQIVLSGETAAAVGALTGVQDAND
SSNRENAIEDEEEEEEEDDDEEEDDLEVKEENGVLVLNDANFDNFVADKDTVLLEFYAPWCGHCKQFAPEYEKIANILKDKDPPIPVAKI
DATSASVLASRFDVSGYPTIKILKKGQAVDYEGSRTQEEIVAKVREVSQPDWTPPPEVTLVLTKENFDEVVNDADIILVEFYAPWCGHCK
KLAPEYEKAAKELSKRSPPIPLAKVDATAETDLAKRFDVSGYPTLKIFRKGRPYDYNGPREKYGIVDYMIEQSGPPSKEILTLKQVQEFL
KDGDDVIIIGVFKGESDPAYQQYQDAANNLREDYKFHHTFSTEIAKFLKVSQGQLVVMQPEKFQSKYEPRSHMMDVQGSTQDSAIKDFVL
KYALPLVGHRKVSNDAKRYTRRPLVVVYYSVDFSFDYRAATQFWRSKVLEVAKDFPEYTFAIADEEDYAGEVKDLGLSESGEDVNAAILD
ESGKKFAMEPEEFDSDTLREFVTAFKKGKLKPVIKSQPVPKNNKGPVKVVVGKTFDSIVMDPKKDVLIEFYAPWCGHCKQLEPVYNSLAK

--------------------------------------------------------------

>60265_60265_3_NRF1-PDIA4_NRF1_chr7_129367205_ENST00000353868_PDIA4_chr7_148718239_ENST00000286091_length(amino acids)=999AA_BP=383
MEEHGVTQTEHMATIEAHAVAQQVQQVHVATYTEHSMLSADEDSPSSPEDTSYDDSDILNSTAADEVTAHLAAAGPVGMAAAAAVATGKK
RKRPHVFESNPSIRKRQQTRLLRKLRATLDEYTTRVGQQAIVLCISPSKPNPVFKVFGAAPLENVVRKYKSMILEDLESALAEHAPAPQE
VNSELPPLTIDGIPVSVDKMTQAQLRAFIPEMLKYSTGRGKPGWGKESCKPIWWPEDIPWANVRSDVRTEEQKQRVGTGATVATLADASE
LPTTVTVAQVNYSAVADGEVEQNWATLQGGEMTIQTTQASEATQAVASLAEAAVAASQEMQQGATVTMALNSEAAAHAVATLAEATLQGG
GQIVLSGETAAAVGALTGVQDANDSSNRENAIEDEEEEEEEDDDEEEDDLEVKEENGVLVLNDANFDNFVADKDTVLLEFYAPWCGHCKQ
FAPEYEKIANILKDKDPPIPVAKIDATSASVLASRFDVSGYPTIKILKKGQAVDYEGSRTQEEIVAKVREVSQPDWTPPPEVTLVLTKEN
FDEVVNDADIILVEFYAPWCGHCKKLAPEYEKAAKELSKRSPPIPLAKVDATAETDLAKRFDVSGYPTLKIFRKGRPYDYNGPREKYGIV
DYMIEQSGPPSKEILTLKQVQEFLKDGDDVIIIGVFKGESDPAYQQYQDAANNLREDYKFHHTFSTEIAKFLKVSQGQLVVMQPEKFQSK
YEPRSHMMDVQGSTQDSAIKDFVLKYALPLVGHRKVSNDAKRYTRRPLVVVYYSVDFSFDYRAATQFWRSKVLEVAKDFPEYTFAIADEE
DYAGEVKDLGLSESGEDVNAAILDESGKKFAMEPEEFDSDTLREFVTAFKKGKLKPVIKSQPVPKNNKGPVKVVVGKTFDSIVMDPKKDV
LIEFYAPWCGHCKQLEPVYNSLAKKYKGQKGLVIAKMDATANDVPSDRYKVEGFPTIYFAPSGDKKNPVKFEGGDRDLEHLSKFIEEHAT

--------------------------------------------------------------

>60265_60265_4_NRF1-PDIA4_NRF1_chr7_129367205_ENST00000393230_PDIA4_chr7_148718239_ENST00000286091_length(amino acids)=1065AA_BP=449
MEEHGVTQTEHMATIEAHAVAQQVQQVHVATYTEHSMLSADEDSPSSPEDTSYDDSDILNSTAADEVTAHLAAAGPVGMAAAAAVATGKK
RKRPHVFESNPSIRKRQQTRLLRKLRATLDEYTTRVGQQAIVLCISPSKPNPVFKVFGAAPLENVVRKYKSMILEDLESALAEHAPAPQE
VNSELPPLTIDGIPVSVDKMTQAQLRAFIPEMLKYSTGRGKPGWGKESCKPIWWPEDIPWANVRSDVRTEEQKQRVSWTQALRTIVKNCY
KQHGREDLLYAFEDQQTQTQATATHSIAHLVPSQTVVQTFSNPDGTVSLIQVGTGATVATLADASELPTTVTVAQVNYSAVADGEVEQNW
ATLQGGEMTIQTTQASEATQAVASLAEAAVAASQEMQQGATVTMALNSEAAAHAVATLAEATLQGGGQIVLSGETAAAVGALTGVQDAND
SSNRENAIEDEEEEEEEDDDEEEDDLEVKEENGVLVLNDANFDNFVADKDTVLLEFYAPWCGHCKQFAPEYEKIANILKDKDPPIPVAKI
DATSASVLASRFDVSGYPTIKILKKGQAVDYEGSRTQEEIVAKVREVSQPDWTPPPEVTLVLTKENFDEVVNDADIILVEFYAPWCGHCK
KLAPEYEKAAKELSKRSPPIPLAKVDATAETDLAKRFDVSGYPTLKIFRKGRPYDYNGPREKYGIVDYMIEQSGPPSKEILTLKQVQEFL
KDGDDVIIIGVFKGESDPAYQQYQDAANNLREDYKFHHTFSTEIAKFLKVSQGQLVVMQPEKFQSKYEPRSHMMDVQGSTQDSAIKDFVL
KYALPLVGHRKVSNDAKRYTRRPLVVVYYSVDFSFDYRAATQFWRSKVLEVAKDFPEYTFAIADEEDYAGEVKDLGLSESGEDVNAAILD
ESGKKFAMEPEEFDSDTLREFVTAFKKGKLKPVIKSQPVPKNNKGPVKVVVGKTFDSIVMDPKKDVLIEFYAPWCGHCKQLEPVYNSLAK

--------------------------------------------------------------

>60265_60265_5_NRF1-PDIA4_NRF1_chr7_129367205_ENST00000393231_PDIA4_chr7_148718239_ENST00000286091_length(amino acids)=1065AA_BP=449
MEEHGVTQTEHMATIEAHAVAQQVQQVHVATYTEHSMLSADEDSPSSPEDTSYDDSDILNSTAADEVTAHLAAAGPVGMAAAAAVATGKK
RKRPHVFESNPSIRKRQQTRLLRKLRATLDEYTTRVGQQAIVLCISPSKPNPVFKVFGAAPLENVVRKYKSMILEDLESALAEHAPAPQE
VNSELPPLTIDGIPVSVDKMTQAQLRAFIPEMLKYSTGRGKPGWGKESCKPIWWPEDIPWANVRSDVRTEEQKQRVSWTQALRTIVKNCY
KQHGREDLLYAFEDQQTQTQATATHSIAHLVPSQTVVQTFSNPDGTVSLIQVGTGATVATLADASELPTTVTVAQVNYSAVADGEVEQNW
ATLQGGEMTIQTTQASEATQAVASLAEAAVAASQEMQQGATVTMALNSEAAAHAVATLAEATLQGGGQIVLSGETAAAVGALTGVQDAND
SSNRENAIEDEEEEEEEDDDEEEDDLEVKEENGVLVLNDANFDNFVADKDTVLLEFYAPWCGHCKQFAPEYEKIANILKDKDPPIPVAKI
DATSASVLASRFDVSGYPTIKILKKGQAVDYEGSRTQEEIVAKVREVSQPDWTPPPEVTLVLTKENFDEVVNDADIILVEFYAPWCGHCK
KLAPEYEKAAKELSKRSPPIPLAKVDATAETDLAKRFDVSGYPTLKIFRKGRPYDYNGPREKYGIVDYMIEQSGPPSKEILTLKQVQEFL
KDGDDVIIIGVFKGESDPAYQQYQDAANNLREDYKFHHTFSTEIAKFLKVSQGQLVVMQPEKFQSKYEPRSHMMDVQGSTQDSAIKDFVL
KYALPLVGHRKVSNDAKRYTRRPLVVVYYSVDFSFDYRAATQFWRSKVLEVAKDFPEYTFAIADEEDYAGEVKDLGLSESGEDVNAAILD
ESGKKFAMEPEEFDSDTLREFVTAFKKGKLKPVIKSQPVPKNNKGPVKVVVGKTFDSIVMDPKKDVLIEFYAPWCGHCKQLEPVYNSLAK

--------------------------------------------------------------

>60265_60265_6_NRF1-PDIA4_NRF1_chr7_129367205_ENST00000393232_PDIA4_chr7_148718239_ENST00000286091_length(amino acids)=1065AA_BP=449
MEEHGVTQTEHMATIEAHAVAQQVQQVHVATYTEHSMLSADEDSPSSPEDTSYDDSDILNSTAADEVTAHLAAAGPVGMAAAAAVATGKK
RKRPHVFESNPSIRKRQQTRLLRKLRATLDEYTTRVGQQAIVLCISPSKPNPVFKVFGAAPLENVVRKYKSMILEDLESALAEHAPAPQE
VNSELPPLTIDGIPVSVDKMTQAQLRAFIPEMLKYSTGRGKPGWGKESCKPIWWPEDIPWANVRSDVRTEEQKQRVSWTQALRTIVKNCY
KQHGREDLLYAFEDQQTQTQATATHSIAHLVPSQTVVQTFSNPDGTVSLIQVGTGATVATLADASELPTTVTVAQVNYSAVADGEVEQNW
ATLQGGEMTIQTTQASEATQAVASLAEAAVAASQEMQQGATVTMALNSEAAAHAVATLAEATLQGGGQIVLSGETAAAVGALTGVQDAND
SSNRENAIEDEEEEEEEDDDEEEDDLEVKEENGVLVLNDANFDNFVADKDTVLLEFYAPWCGHCKQFAPEYEKIANILKDKDPPIPVAKI
DATSASVLASRFDVSGYPTIKILKKGQAVDYEGSRTQEEIVAKVREVSQPDWTPPPEVTLVLTKENFDEVVNDADIILVEFYAPWCGHCK
KLAPEYEKAAKELSKRSPPIPLAKVDATAETDLAKRFDVSGYPTLKIFRKGRPYDYNGPREKYGIVDYMIEQSGPPSKEILTLKQVQEFL
KDGDDVIIIGVFKGESDPAYQQYQDAANNLREDYKFHHTFSTEIAKFLKVSQGQLVVMQPEKFQSKYEPRSHMMDVQGSTQDSAIKDFVL
KYALPLVGHRKVSNDAKRYTRRPLVVVYYSVDFSFDYRAATQFWRSKVLEVAKDFPEYTFAIADEEDYAGEVKDLGLSESGEDVNAAILD
ESGKKFAMEPEEFDSDTLREFVTAFKKGKLKPVIKSQPVPKNNKGPVKVVVGKTFDSIVMDPKKDVLIEFYAPWCGHCKQLEPVYNSLAK

--------------------------------------------------------------

>60265_60265_7_NRF1-PDIA4_NRF1_chr7_129367205_ENST00000539636_PDIA4_chr7_148718239_ENST00000286091_length(amino acids)=914AA_BP=298
MENVVRKYKSMILEDLESALAEHAPAPQEVNSELPPLTIDGIPVSVDKMTQAQLRAFIPEMLKYSTGRGKPGWGKESCKPIWWPEDIPWA
NVRSDVRTEEQKQRVSWTQALRTIVKNCYKQHGREDLLYAFEDQQTQTQATATHSIAHLVPSQTVVQTFSNPDGTVSLIQVGTGATVATL
ADASELPTTVTVAQVNYSAVADGEVEQNWATLQGGEMTIQTTQASEATQAVASLAEAAVAASQEMQQGATVTMALNSEAAAHAVATLAEA
TLQGGGQIVLSGETAAAVGALTGVQDANDSSNRENAIEDEEEEEEEDDDEEEDDLEVKEENGVLVLNDANFDNFVADKDTVLLEFYAPWC
GHCKQFAPEYEKIANILKDKDPPIPVAKIDATSASVLASRFDVSGYPTIKILKKGQAVDYEGSRTQEEIVAKVREVSQPDWTPPPEVTLV
LTKENFDEVVNDADIILVEFYAPWCGHCKKLAPEYEKAAKELSKRSPPIPLAKVDATAETDLAKRFDVSGYPTLKIFRKGRPYDYNGPRE
KYGIVDYMIEQSGPPSKEILTLKQVQEFLKDGDDVIIIGVFKGESDPAYQQYQDAANNLREDYKFHHTFSTEIAKFLKVSQGQLVVMQPE
KFQSKYEPRSHMMDVQGSTQDSAIKDFVLKYALPLVGHRKVSNDAKRYTRRPLVVVYYSVDFSFDYRAATQFWRSKVLEVAKDFPEYTFA
IADEEDYAGEVKDLGLSESGEDVNAAILDESGKKFAMEPEEFDSDTLREFVTAFKKGKLKPVIKSQPVPKNNKGPVKVVVGKTFDSIVMD
PKKDVLIEFYAPWCGHCKQLEPVYNSLAKKYKGQKGLVIAKMDATANDVPSDRYKVEGFPTIYFAPSGDKKNPVKFEGGDRDLEHLSKFI

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Fusion Protein Functional Features


check button Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr7:129367205/chr7:148718239)
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
- How to search
1. Put your fusion gene symbol.
2. Press the tab key until there will be shown the breakpoint information filled.
4. Go down and press 'Search' tab twice.
4. Go down to have the hyperlink of the search result.
5. Click the hyperlink.
6. See the FGviewer result for your fusion gene.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
NRF1

Q16656

.
FUNCTION: Transcription factor that activates the expression of the EIF2S1 (EIF2-alpha) gene. Links the transcriptional modulation of key metabolic genes to cellular growth and development. Implicated in the control of nuclear genes required for respiration, heme biosynthesis, and mitochondrial DNA transcription and replication.FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.

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.
- Retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneNRF1chr7:129367205chr7:148718239ENST00000223190+101141_66449.3333333333333504.0Compositional biasNote=Asp/Glu-rich (acidic)
HgeneNRF1chr7:129367205chr7:148718239ENST00000223190+101180_86449.3333333333333504.0Compositional biasNote=Poly-Ala
HgeneNRF1chr7:129367205chr7:148718239ENST00000353868+91041_66383.3333333333333438.0Compositional biasNote=Asp/Glu-rich (acidic)
HgeneNRF1chr7:129367205chr7:148718239ENST00000353868+91080_86383.3333333333333438.0Compositional biasNote=Poly-Ala
HgeneNRF1chr7:129367205chr7:148718239ENST00000393230+101141_66449.3333333333333504.0Compositional biasNote=Asp/Glu-rich (acidic)
HgeneNRF1chr7:129367205chr7:148718239ENST00000393230+101180_86449.3333333333333504.0Compositional biasNote=Poly-Ala
HgeneNRF1chr7:129367205chr7:148718239ENST00000393232+101141_66449.3333333333333504.0Compositional biasNote=Asp/Glu-rich (acidic)
HgeneNRF1chr7:129367205chr7:148718239ENST00000393232+101180_86449.3333333333333504.0Compositional biasNote=Poly-Ala
HgeneNRF1chr7:129367205chr7:148718239ENST00000223190+1011109_305449.3333333333333504.0DNA binding.
HgeneNRF1chr7:129367205chr7:148718239ENST00000353868+910109_305383.3333333333333438.0DNA binding.
HgeneNRF1chr7:129367205chr7:148718239ENST00000393230+1011109_305449.3333333333333504.0DNA binding.
HgeneNRF1chr7:129367205chr7:148718239ENST00000393232+1011109_305449.3333333333333504.0DNA binding.
HgeneNRF1chr7:129367205chr7:148718239ENST00000223190+101188_116449.3333333333333504.0MotifNote=Nuclear localization signal
HgeneNRF1chr7:129367205chr7:148718239ENST00000353868+91088_116383.3333333333333438.0MotifNote=Nuclear localization signal
HgeneNRF1chr7:129367205chr7:148718239ENST00000393230+101188_116449.3333333333333504.0MotifNote=Nuclear localization signal
HgeneNRF1chr7:129367205chr7:148718239ENST00000393232+101188_116449.3333333333333504.0MotifNote=Nuclear localization signal
HgeneNRF1chr7:129367205chr7:148718239ENST00000223190+10111_78449.3333333333333504.0RegionNote=Dimerization
HgeneNRF1chr7:129367205chr7:148718239ENST00000353868+9101_78383.3333333333333438.0RegionNote=Dimerization
HgeneNRF1chr7:129367205chr7:148718239ENST00000393230+10111_78449.3333333333333504.0RegionNote=Dimerization
HgeneNRF1chr7:129367205chr7:148718239ENST00000393232+10111_78449.3333333333333504.0RegionNote=Dimerization
TgenePDIA4chr7:129367205chr7:148718239ENST0000028609101039_5529.333333333333332646.0Compositional biasNote=Asp/Glu-rich (acidic)
TgenePDIA4chr7:129367205chr7:148718239ENST00000286091010158_30129.333333333333332646.0DomainThioredoxin 2
TgenePDIA4chr7:129367205chr7:148718239ENST00000286091010505_63629.333333333333332646.0DomainThioredoxin 3
TgenePDIA4chr7:129367205chr7:148718239ENST00000286091010642_64529.333333333333332646.0MotifNote=Prevents secretion from ER

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneNRF1chr7:129367205chr7:148718239ENST00000223190+1011301_476449.3333333333333504.0RegionNote=Required for transcriptional activation
HgeneNRF1chr7:129367205chr7:148718239ENST00000353868+910301_476383.3333333333333438.0RegionNote=Required for transcriptional activation
HgeneNRF1chr7:129367205chr7:148718239ENST00000393230+1011301_476449.3333333333333504.0RegionNote=Required for transcriptional activation
HgeneNRF1chr7:129367205chr7:148718239ENST00000393232+1011301_476449.3333333333333504.0RegionNote=Required for transcriptional activation
TgenePDIA4chr7:129367205chr7:148718239ENST0000028609101021_16929.333333333333332646.0DomainThioredoxin 1


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Fusion Protein-Protein Interaction


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 from validated records (BIOGRID-3.4.160)
GenePPI interactors


check button Protein-protein interactors based on sequence similarity (STRING)
GeneSTRING network
NRF1
PDIA4


check button - Retained interactions in fusion protein (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost interactions due to fusion (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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Related Drugs to NRF1-PDIA4


check button Drugs used for this fusion-positive patient.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDrugSourcePMID

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Related Diseases to NRF1-PDIA4


check button Diseases that have this fusion gene.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDiseaseSourcePMID

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