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Center for Computational Systems Medicine level2
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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 Structure

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pLDDT scores

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Ramachandran Plot of Fusion Protein Structure

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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:NFIA-CYP2J2

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: NFIA-CYP2J2
FusionPDB ID: 58865
FusionGDB2.0 ID: 58865
HgeneTgene
Gene symbol

NFIA

CYP2J2

Gene ID

4774

1573

Gene namenuclear factor I Acytochrome P450 family 2 subfamily J member 2
SynonymsBRMUTD|CTF|NF-I/A|NF1-A|NFI-A|NFI-LCPJ2|CYPIIJ2
Cytomap

1p31.3

1p32.1

Type of geneprotein-codingprotein-coding
Descriptionnuclear factor 1 A-typeCCAAT-box-binding transcription factorTGGCA-binding proteincytochrome P450 2J2albendazole monooxygenase (hydroxylating)albendazole monooxygenase (sulfoxide-forming)arachidonic acid epoxygenasecytochrome P450, family 2, subfamily J, polypeptide 2cytochrome P450, subfamily IIJ (arachidonic acid epoxygenase) po
Modification date2020031320200322
UniProtAcc

Q12857

P51589

Ensembl transtripts involved in fusion geneENST idsENST00000371184, ENST00000371185, 
ENST00000371187, ENST00000371189, 
ENST00000371191, ENST00000403491, 
ENST00000407417, ENST00000485903, 
ENST00000357977, ENST00000479364, 
ENST00000492633, ENST00000371204, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score21 X 22 X 8=36963 X 2 X 3=18
# samples 253
** MAII scorelog2(25/3696*10)=-3.88596475675397
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(3/18*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context (manual curation of fusion genes in FusionPDB)

PubMed: NFIA [Title/Abstract] AND CYP2J2 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)NFIA(61554352)-CYP2J2(60359501), # samples:3
Anticipated loss of major functional domain due to fusion event.NFIA-CYP2J2 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.
NFIA-CYP2J2 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.
NFIA-CYP2J2 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.
NFIA-CYP2J2 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
HgeneNFIA

GO:0045944

positive regulation of transcription by RNA polymerase II

17010934

TgeneCYP2J2

GO:0006690

icosanoid metabolic process

19737933

TgeneCYP2J2

GO:0019373

epoxygenase P450 pathway

8631948|11901223

TgeneCYP2J2

GO:0043651

linoleic acid metabolic process

11901223


check buttonFusion gene breakpoints across NFIA (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 CYP2J2 (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-CH-5740-01ANFIAchr1

61554352

-CYP2J2chr1

60359501

-
ChimerDB4PRADTCGA-CH-5740-01ANFIAchr1

61554352

+CYP2J2chr1

60359501

-
ChimerDB4PRADTCGA-CH-5740NFIAchr1

61554352

+CYP2J2chr1

60359501

-


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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)
ENST00000371191NFIAchr161554352+ENST00000371204CYP2J2chr160359501-1262740112918268
ENST00000407417NFIAchr161554352+ENST00000371204CYP2J2chr160359501-14098873101065251
ENST00000371189NFIAchr161554352+ENST00000371204CYP2J2chr160359501-129877682954290
ENST00000403491NFIAchr161554352+ENST00000371204CYP2J2chr160359501-156510433431221292
ENST00000371187NFIAchr161554352+ENST00000371204CYP2J2chr160359501-125273030908292
ENST00000485903NFIAchr161554352+ENST00000371204CYP2J2chr160359501-115062869806245
ENST00000371185NFIAchr161554352+ENST00000371204CYP2J2chr160359501-112560344781245
ENST00000371184NFIAchr161554352+ENST00000371204CYP2J2chr160359501-111959738775245

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
ENST00000371191ENST00000371204NFIAchr161554352+CYP2J2chr160359501-0.0009846350.99901533
ENST00000407417ENST00000371204NFIAchr161554352+CYP2J2chr160359501-0.0016711560.99832886
ENST00000371189ENST00000371204NFIAchr161554352+CYP2J2chr160359501-0.0026732910.99732673
ENST00000403491ENST00000371204NFIAchr161554352+CYP2J2chr160359501-0.0035950470.996405
ENST00000371187ENST00000371204NFIAchr161554352+CYP2J2chr160359501-0.0022138220.99778616
ENST00000485903ENST00000371204NFIAchr161554352+CYP2J2chr160359501-0.0021067810.9978933
ENST00000371185ENST00000371204NFIAchr161554352+CYP2J2chr160359501-0.0019300010.99807006
ENST00000371184ENST00000371204NFIAchr161554352+CYP2J2chr160359501-0.001823820.9981762

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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

>58865_58865_1_NFIA-CYP2J2_NFIA_chr1_61554352_ENST00000371184_CYP2J2_chr1_60359501_ENST00000371204_length(amino acids)=245AA_BP=186
MYSPLCLTQDEFHPFIEALLPHVRAFAYTWFNLQARKRKYFKKHEKRMSKEEERAVKDELLSEKPEVKQKWASRLLAKLRKDIRPEYRED
FVLTVTGKKPPCCVLSNPDQKGKMRRIDCLRQADKVWRLDLVMVILFKGIPLESTDGERLVKSPQCSNPGLCVQPHHIGVSVKELDLYLA

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

>58865_58865_2_NFIA-CYP2J2_NFIA_chr1_61554352_ENST00000371185_CYP2J2_chr1_60359501_ENST00000371204_length(amino acids)=245AA_BP=186
MYSPLCLTQDEFHPFIEALLPHVRAFAYTWFNLQARKRKYFKKHEKRMSKEEERAVKDELLSEKPEVKQKWASRLLAKLRKDIRPEYRED
FVLTVTGKKPPCCVLSNPDQKGKMRRIDCLRQADKVWRLDLVMVILFKGIPLESTDGERLVKSPQCSNPGLCVQPHHIGVSVKELDLYLA

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

>58865_58865_3_NFIA-CYP2J2_NFIA_chr1_61554352_ENST00000371187_CYP2J2_chr1_60359501_ENST00000371204_length(amino acids)=292AA_BP=233
MIFFSPPFSLSLSLSLPLSLFLLSHPHSRTPPNRTPRRTRIPQRPAVMYSPLCLTQDEFHPFIEALLPHVRAFAYTWFNLQARKRKYFKK
HEKRMSKEEERAVKDELLSEKPEVKQKWASRLLAKLRKDIRPEYREDFVLTVTGKKPPCCVLSNPDQKGKMRRIDCLRQADKVWRLDLVM
VILFKGIPLESTDGERLVKSPQCSNPGLCVQPHHIGVSVKELDLYLAYFVHAAGKRACLGEQLARTELFIFFTSLMQKFTFRPPNNEKLS

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

>58865_58865_4_NFIA-CYP2J2_NFIA_chr1_61554352_ENST00000371189_CYP2J2_chr1_60359501_ENST00000371204_length(amino acids)=290AA_BP=231
MQMCRPASSSVLYVPTRWPGGCGATWQSCPSPPPRRTRIPQRPAVMYSPLCLTQDEFHPFIEALLPHVRAFAYTWFNLQARKRKYFKKHE
KRMSKEEERAVKDELLSEKPEVKQKWASRLLAKLRKDIRPEYREDFVLTVTGKKPPCCVLSNPDQKGKMRRIDCLRQADKVWRLDLVMVI
LFKGIPLESTDGERLVKSPQCSNPGLCVQPHHIGVSVKELDLYLAYFVHAAGKRACLGEQLARTELFIFFTSLMQKFTFRPPNNEKLSLK

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

>58865_58865_5_NFIA-CYP2J2_NFIA_chr1_61554352_ENST00000371191_CYP2J2_chr1_60359501_ENST00000371204_length(amino acids)=268AA_BP=209
MKLADSVMAGKASDGSIKWQLCYDISARTWWMDEFHPFIEALLPHVRAFAYTWFNLQARKRKYFKKHEKRMSKEEERAVKDELLSEKPEV
KQKWASRLLAKLRKDIRPEYREDFVLTVTGKKPPCCVLSNPDQKGKMRRIDCLRQADKVWRLDLVMVILFKGIPLESTDGERLVKSPQCS

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

>58865_58865_6_NFIA-CYP2J2_NFIA_chr1_61554352_ENST00000403491_CYP2J2_chr1_60359501_ENST00000371204_length(amino acids)=292AA_BP=233
MIFFSPPFSLSLSLSLPLSLFLLSHPHSRTPPNRTPRRTRIPQRPAVMYSPLCLTQDEFHPFIEALLPHVRAFAYTWFNLQARKRKYFKK
HEKRMSKEEERAVKDELLSEKPEVKQKWASRLLAKLRKDIRPEYREDFVLTVTGKKPPCCVLSNPDQKGKMRRIDCLRQADKVWRLDLVM
VILFKGIPLESTDGERLVKSPQCSNPGLCVQPHHIGVSVKELDLYLAYFVHAAGKRACLGEQLARTELFIFFTSLMQKFTFRPPNNEKLS

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

>58865_58865_7_NFIA-CYP2J2_NFIA_chr1_61554352_ENST00000407417_CYP2J2_chr1_60359501_ENST00000371204_length(amino acids)=251AA_BP=192
MSILKFLTYSFYIAMDEFHPFIEALLPHVRAFAYTWFNLQARKRKYFKKHEKRMSKEEERAVKDELLSEKPEVKQKWASRLLAKLRKDIR
PEYREDFVLTVTGKKPPCCVLSNPDQKGKMRRIDCLRQADKVWRLDLVMVILFKGIPLESTDGERLVKSPQCSNPGLCVQPHHIGVSVKE

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

>58865_58865_8_NFIA-CYP2J2_NFIA_chr1_61554352_ENST00000485903_CYP2J2_chr1_60359501_ENST00000371204_length(amino acids)=245AA_BP=186
MYSPLCLTQDEFHPFIEALLPHVRAFAYTWFNLQARKRKYFKKHEKRMSKEEERAVKDELLSEKPEVKQKWASRLLAKLRKDIRPEYRED
FVLTVTGKKPPCCVLSNPDQKGKMRRIDCLRQADKVWRLDLVMVILFKGIPLESTDGERLVKSPQCSNPGLCVQPHHIGVSVKELDLYLA

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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/chr1:61554352/chr1:60359501)
- 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
NFIA

Q12857

CYP2J2

P51589

FUNCTION: Recognizes and binds the palindromic sequence 5'-TTGGCNNNNNGCCAA-3' present in viral and cellular promoters and in the origin of replication of adenovirus type 2. These proteins are individually capable of activating transcription and replication.FUNCTION: A cytochrome P450 monooxygenase involved in the metabolism of polyunsaturated fatty acids (PUFA) in the cardiovascular system (PubMed:8631948, PubMed:19965576). Mechanistically, uses molecular oxygen inserting one oxygen atom into a substrate, and reducing the second into a water molecule, with two electrons provided by NADPH via cytochrome P450 reductase (NADPH--hemoprotein reductase) (PubMed:8631948, PubMed:19965576). Catalyzes the epoxidation of double bonds of PUFA (PubMed:8631948, PubMed:19965576). Converts arachidonic acid to four regioisomeric epoxyeicosatrienoic acids (EpETrE), likely playing a major role in the epoxidation of endogenous cardiac arachidonic acid pools (PubMed:8631948). In endothelial cells, participates in eicosanoids metabolism by converting hydroperoxide species into hydroxy epoxy metabolites. In combination with 15-lipoxygenase metabolizes arachidonic acid and converts hydroperoxyicosatetraenoates (HpETEs) into hydroxy epoxy eicosatrienoates (HEETs), which are precursors of vasodilatory trihydroxyicosatrienoic acids (THETAs). This hydroperoxide isomerase activity is NADPH- and O2-independent (PubMed:19737933). Catalyzes the monooxygenation of a various xenobiotics, such as danazol, amiodarone, terfenadine, astemizole, thioridazine, tamoxifen, cyclosporin A and nabumetone (PubMed:19923256). Catalyzes hydroxylation of the anthelmintics albendazole and fenbendazole (PubMed:23959307). Catalyzes the sulfoxidation of fenbedazole (PubMed:19923256). {ECO:0000269|PubMed:19737933, ECO:0000269|PubMed:19923256, ECO:0000269|PubMed:19965576, ECO:0000269|PubMed:23959307, ECO:0000269|PubMed:8631948}.

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
HgeneNFIAchr1:61554352chr1:60359501ENST00000371189+3121_194231.33333333333334555.0DNA bindingCTF/NF-I

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneNFIAchr1:61554352chr1:60359501ENST00000371187+2101_194186.33333333333334499.0DNA bindingCTF/NF-I
HgeneNFIAchr1:61554352chr1:60359501ENST00000403491+2111_194186.33333333333334510.0DNA bindingCTF/NF-I
HgeneNFIAchr1:61554352chr1:60359501ENST00000407417+2111_194178.33333333333334502.0DNA bindingCTF/NF-I
HgeneNFIAchr1:61554352chr1:60359501ENST00000371187+210394_402186.33333333333334499.0Motif9aaTAD
HgeneNFIAchr1:61554352chr1:60359501ENST00000371189+312394_402231.33333333333334555.0Motif9aaTAD
HgeneNFIAchr1:61554352chr1:60359501ENST00000403491+211394_402186.33333333333334510.0Motif9aaTAD
HgeneNFIAchr1:61554352chr1:60359501ENST00000407417+211394_402178.33333333333334502.0Motif9aaTAD


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Fusion Protein Structures

check button PDB and CIF files of the predicted fusion proteins
* Here we show the 3D structure of the fusion proteins using Mol*. AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100. Model confidence is shown from the pLDDT values per residue. pLDDT corresponds to the model’s prediction of its score on the local Distance Difference Test. It is a measure of local accuracy (from AlphfaFold website). To color code individual residues, we transformed individual PDB files into CIF format.
Fusion protein PDB link (fusion AA seq ID in FusionPDB)HgeneHchrHbpHstrandTgeneTchrTbpTstrandAA seqLen(AA seq)
PDB file >>>516_NFIA_61554352_CYP2J2_60359501_ranked_0.pdbNFIA6155435261554352ENST00000371204CYP2J2chr160359501-
MIFFSPPFSLSLSLSLPLSLFLLSHPHSRTPPNRTPRRTRIPQRPAVMYSPLCLTQDEFHPFIEALLPHVRAFAYTWFNLQARKRKYFKK
HEKRMSKEEERAVKDELLSEKPEVKQKWASRLLAKLRKDIRPEYREDFVLTVTGKKPPCCVLSNPDQKGKMRRIDCLRQADKVWRLDLVM
VILFKGIPLESTDGERLVKSPQCSNPGLCVQPHHIGVSVKELDLYLAYFVHAAGKRACLGEQLARTELFIFFTSLMQKFTFRPPNNEKLS
292


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pLDDT score distribution

check button pLDDT score distribution of the predicted wild-type structures of two partner proteins from AlphaFold2
* AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100.
NFIA_pLDDT.png
all structure
all structure
CYP2J2_pLDDT.png
all structure
all structure

check button pLDDT score distribution of the predicted fusion protein structures from AlphaFold2
* AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100.
all structure


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Ramachandran Plot of Fusion Protein Structure


check button Ramachandran plot of the torsional angles - phi (φ)and psi (ψ) - of the residues (amino acids) contained in this fusion protein peptide.
Fusion AA seq ID in FusionPDB and their Ramachandran plots

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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
NFIA
CYP2J2


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 NFIA-CYP2J2


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 NFIA-CYP2J2


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