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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:NFIB-UBE2H

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: NFIB-UBE2H
FusionPDB ID: 58898
FusionGDB2.0 ID: 58898
HgeneTgene
Gene symbol

NFIB

UBE2H

Gene ID

4781

7328

Gene namenuclear factor I Bubiquitin conjugating enzyme E2 H
SynonymsCTF|HMGIC/NFIB|MACID|NF-I/B|NF1-B|NFI-B|NFI-RED|NFIB2|NFIB3E2-20K|GID3|UBC8|UBCH|UBCH2
Cytomap

9p23-p22.3

7q32.2

Type of geneprotein-codingprotein-coding
Descriptionnuclear factor 1 B-typeCCAAT-box-binding transcription factorTGGCA-binding proteinnuclear factor 1/Bubiquitin-conjugating enzyme E2 H(E3-independent) E2 ubiquitin-conjugating enzyme HE2 ubiquitin-conjugating enzyme HGID complex subunit 3, UBC8 homologubiquitin carrier protein Hubiquitin conjugating enzyme E2Hubiquitin-conjugating enzyme E2-20Kubi
Modification date2020031320200313
UniProtAcc

O00712

.
Ensembl transtripts involved in fusion geneENST idsENST00000380921, ENST00000380934, 
ENST00000380953, ENST00000380959, 
ENST00000397575, ENST00000397579, 
ENST00000397581, ENST00000380924, 
ENST00000543693, 
ENST00000355621, 
ENST00000473814, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score16 X 16 X 8=204812 X 10 X 7=840
# samples 1814
** MAII scorelog2(18/2048*10)=-3.50814690367033
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(14/840*10)=-2.58496250072116
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)

PubMed: NFIB [Title/Abstract] AND UBE2H [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)NFIB(14306988)-UBE2H(129479175), # samples:1
Anticipated loss of major functional domain due to fusion event.NFIB-UBE2H 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.
NFIB-UBE2H 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
HgeneNFIB

GO:0045893

positive regulation of transcription, DNA-templated

30388402

HgeneNFIB

GO:0045944

positive regulation of transcription by RNA polymerase II

9099724|19540848

TgeneUBE2H

GO:0070936

protein K48-linked ubiquitination

20061386

TgeneUBE2H

GO:0070979

protein K11-linked ubiquitination

20061386


check buttonFusion gene breakpoints across NFIB (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 UBE2H (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
ChimerDB4Non-CancerTCGA-IN-8462-11ANFIBchr9

14306988

-UBE2Hchr7

129479175

-


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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)
ENST00000380934NFIBchr914306988-ENST00000355621UBE2Hchr7129479175-54519923521245297
ENST00000380934NFIBchr914306988-ENST00000473814UBE2Hchr7129479175-12469923521245298
ENST00000380959NFIBchr914306988-ENST00000355621UBE2Hchr7129479175-549510364741289271
ENST00000380959NFIBchr914306988-ENST00000473814UBE2Hchr7129479175-129010364741289271
ENST00000380953NFIBchr914306988-ENST00000355621UBE2Hchr7129479175-5177718156971271
ENST00000380953NFIBchr914306988-ENST00000473814UBE2Hchr7129479175-972718156971271
ENST00000397575NFIBchr914306988-ENST00000355621UBE2Hchr7129479175-557911205581373271
ENST00000397575NFIBchr914306988-ENST00000473814UBE2Hchr7129479175-137411205581373271
ENST00000397581NFIBchr914306988-ENST00000355621UBE2Hchr7129479175-6029157010081823271
ENST00000397581NFIBchr914306988-ENST00000473814UBE2Hchr7129479175-1824157010081823271
ENST00000397579NFIBchr914306988-ENST00000355621UBE2Hchr7129479175-6092163310711886271
ENST00000397579NFIBchr914306988-ENST00000473814UBE2Hchr7129479175-1887163310711886271
ENST00000380921NFIBchr914306988-ENST00000355621UBE2Hchr7129479175-546710084461261271
ENST00000380921NFIBchr914306988-ENST00000473814UBE2Hchr7129479175-126210084461261272

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
ENST00000380934ENST00000355621NFIBchr914306988-UBE2Hchr7129479175-0.0005433240.9994567
ENST00000380934ENST00000473814NFIBchr914306988-UBE2Hchr7129479175-0.0017310970.99826884
ENST00000380959ENST00000355621NFIBchr914306988-UBE2Hchr7129479175-0.0004574620.9995426
ENST00000380959ENST00000473814NFIBchr914306988-UBE2Hchr7129479175-0.0027760310.997224
ENST00000380953ENST00000355621NFIBchr914306988-UBE2Hchr7129479175-0.0003821710.9996178
ENST00000380953ENST00000473814NFIBchr914306988-UBE2Hchr7129479175-0.0014270870.99857295
ENST00000397575ENST00000355621NFIBchr914306988-UBE2Hchr7129479175-0.0004678710.9995321
ENST00000397575ENST00000473814NFIBchr914306988-UBE2Hchr7129479175-0.0028391560.9971609
ENST00000397581ENST00000355621NFIBchr914306988-UBE2Hchr7129479175-0.0005690860.99943084
ENST00000397581ENST00000473814NFIBchr914306988-UBE2Hchr7129479175-0.0050503570.9949496
ENST00000397579ENST00000355621NFIBchr914306988-UBE2Hchr7129479175-0.000579060.999421
ENST00000397579ENST00000473814NFIBchr914306988-UBE2Hchr7129479175-0.0052291270.9947708
ENST00000380921ENST00000355621NFIBchr914306988-UBE2Hchr7129479175-0.0004486160.99955136
ENST00000380921ENST00000473814NFIBchr914306988-UBE2Hchr7129479175-0.0025154040.99748456

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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

>58898_58898_1_NFIB-UBE2H_NFIB_chr9_14306988_ENST00000380921_UBE2H_chr7_129479175_ENST00000355621_length(amino acids)=271AA_BP=187
MMYSPICLTQDEFHPFIEALLPHVRAIAYTWFNLQARKRKYFKKHEKRMSKDEERAVKDELLSEKPEIKQKWASRLLAKLRKDIRQEYRE
DFVLTVTGKKHPCCVLSNPDQKGKIRRIDCLRQADKVWRLDLVMVILFKGIPLESTDGERLMKSPHCTNPALCVQPHHITVSVKELDLFL
AYYVQEQDLTNIFESFLPQLLAYPNPIDPLNGDAAAMYLHRPEEYKQKIKEYIQKYATEEALKEQEEGTGDSSSESSMSDFSEDEAQDME

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

>58898_58898_2_NFIB-UBE2H_NFIB_chr9_14306988_ENST00000380921_UBE2H_chr7_129479175_ENST00000473814_length(amino acids)=272AA_BP=187
MMYSPICLTQDEFHPFIEALLPHVRAIAYTWFNLQARKRKYFKKHEKRMSKDEERAVKDELLSEKPEIKQKWASRLLAKLRKDIRQEYRE
DFVLTVTGKKHPCCVLSNPDQKGKIRRIDCLRQADKVWRLDLVMVILFKGIPLESTDGERLMKSPHCTNPALCVQPHHITVSVKELDLFL
AYYVQEQDLTNIFESFLPQLLAYPNPIDPLNGDAAAMYLHRPEEYKQKIKEYIQKYATEEALKEQEEGTGDSSSESSMSDFSEDEAQDME

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

>58898_58898_3_NFIB-UBE2H_NFIB_chr9_14306988_ENST00000380934_UBE2H_chr7_129479175_ENST00000355621_length(amino acids)=297AA_BP=213
MERIPVSVDFWVVCCAVLKCNPGIPKRMSTLCFGFSDEFHPFIEALLPHVRAIAYTWFNLQARKRKYFKKHEKRMSKDEERAVKDELLSE
KPEIKQKWASRLLAKLRKDIRQEYREDFVLTVTGKKHPCCVLSNPDQKGKIRRIDCLRQADKVWRLDLVMVILFKGIPLESTDGERLMKS
PHCTNPALCVQPHHITVSVKELDLFLAYYVQEQDLTNIFESFLPQLLAYPNPIDPLNGDAAAMYLHRPEEYKQKIKEYIQKYATEEALKE

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

>58898_58898_4_NFIB-UBE2H_NFIB_chr9_14306988_ENST00000380934_UBE2H_chr7_129479175_ENST00000473814_length(amino acids)=298AA_BP=213
MERIPVSVDFWVVCCAVLKCNPGIPKRMSTLCFGFSDEFHPFIEALLPHVRAIAYTWFNLQARKRKYFKKHEKRMSKDEERAVKDELLSE
KPEIKQKWASRLLAKLRKDIRQEYREDFVLTVTGKKHPCCVLSNPDQKGKIRRIDCLRQADKVWRLDLVMVILFKGIPLESTDGERLMKS
PHCTNPALCVQPHHITVSVKELDLFLAYYVQEQDLTNIFESFLPQLLAYPNPIDPLNGDAAAMYLHRPEEYKQKIKEYIQKYATEEALKE

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

>58898_58898_5_NFIB-UBE2H_NFIB_chr9_14306988_ENST00000380953_UBE2H_chr7_129479175_ENST00000355621_length(amino acids)=271AA_BP=187
MMYSPICLTQDEFHPFIEALLPHVRAIAYTWFNLQARKRKYFKKHEKRMSKDEERAVKDELLSEKPEIKQKWASRLLAKLRKDIRQEYRE
DFVLTVTGKKHPCCVLSNPDQKGKIRRIDCLRQADKVWRLDLVMVILFKGIPLESTDGERLMKSPHCTNPALCVQPHHITVSVKELDLFL
AYYVQEQDLTNIFESFLPQLLAYPNPIDPLNGDAAAMYLHRPEEYKQKIKEYIQKYATEEALKEQEEGTGDSSSESSMSDFSEDEAQDME

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

>58898_58898_6_NFIB-UBE2H_NFIB_chr9_14306988_ENST00000380953_UBE2H_chr7_129479175_ENST00000473814_length(amino acids)=271AA_BP=187
MMYSPICLTQDEFHPFIEALLPHVRAIAYTWFNLQARKRKYFKKHEKRMSKDEERAVKDELLSEKPEIKQKWASRLLAKLRKDIRQEYRE
DFVLTVTGKKHPCCVLSNPDQKGKIRRIDCLRQADKVWRLDLVMVILFKGIPLESTDGERLMKSPHCTNPALCVQPHHITVSVKELDLFL
AYYVQEQDLTNIFESFLPQLLAYPNPIDPLNGDAAAMYLHRPEEYKQKIKEYIQKYATEEALKEQEEGTGDSSSESSMSDFSEDEAQDME

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

>58898_58898_7_NFIB-UBE2H_NFIB_chr9_14306988_ENST00000380959_UBE2H_chr7_129479175_ENST00000355621_length(amino acids)=271AA_BP=187
MMYSPICLTQDEFHPFIEALLPHVRAIAYTWFNLQARKRKYFKKHEKRMSKDEERAVKDELLSEKPEIKQKWASRLLAKLRKDIRQEYRE
DFVLTVTGKKHPCCVLSNPDQKGKIRRIDCLRQADKVWRLDLVMVILFKGIPLESTDGERLMKSPHCTNPALCVQPHHITVSVKELDLFL
AYYVQEQDLTNIFESFLPQLLAYPNPIDPLNGDAAAMYLHRPEEYKQKIKEYIQKYATEEALKEQEEGTGDSSSESSMSDFSEDEAQDME

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

>58898_58898_8_NFIB-UBE2H_NFIB_chr9_14306988_ENST00000380959_UBE2H_chr7_129479175_ENST00000473814_length(amino acids)=271AA_BP=187
MMYSPICLTQDEFHPFIEALLPHVRAIAYTWFNLQARKRKYFKKHEKRMSKDEERAVKDELLSEKPEIKQKWASRLLAKLRKDIRQEYRE
DFVLTVTGKKHPCCVLSNPDQKGKIRRIDCLRQADKVWRLDLVMVILFKGIPLESTDGERLMKSPHCTNPALCVQPHHITVSVKELDLFL
AYYVQEQDLTNIFESFLPQLLAYPNPIDPLNGDAAAMYLHRPEEYKQKIKEYIQKYATEEALKEQEEGTGDSSSESSMSDFSEDEAQDME

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

>58898_58898_9_NFIB-UBE2H_NFIB_chr9_14306988_ENST00000397575_UBE2H_chr7_129479175_ENST00000355621_length(amino acids)=271AA_BP=187
MMYSPICLTQDEFHPFIEALLPHVRAIAYTWFNLQARKRKYFKKHEKRMSKDEERAVKDELLSEKPEIKQKWASRLLAKLRKDIRQEYRE
DFVLTVTGKKHPCCVLSNPDQKGKIRRIDCLRQADKVWRLDLVMVILFKGIPLESTDGERLMKSPHCTNPALCVQPHHITVSVKELDLFL
AYYVQEQDLTNIFESFLPQLLAYPNPIDPLNGDAAAMYLHRPEEYKQKIKEYIQKYATEEALKEQEEGTGDSSSESSMSDFSEDEAQDME

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

>58898_58898_10_NFIB-UBE2H_NFIB_chr9_14306988_ENST00000397575_UBE2H_chr7_129479175_ENST00000473814_length(amino acids)=271AA_BP=187
MMYSPICLTQDEFHPFIEALLPHVRAIAYTWFNLQARKRKYFKKHEKRMSKDEERAVKDELLSEKPEIKQKWASRLLAKLRKDIRQEYRE
DFVLTVTGKKHPCCVLSNPDQKGKIRRIDCLRQADKVWRLDLVMVILFKGIPLESTDGERLMKSPHCTNPALCVQPHHITVSVKELDLFL
AYYVQEQDLTNIFESFLPQLLAYPNPIDPLNGDAAAMYLHRPEEYKQKIKEYIQKYATEEALKEQEEGTGDSSSESSMSDFSEDEAQDME

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

>58898_58898_11_NFIB-UBE2H_NFIB_chr9_14306988_ENST00000397579_UBE2H_chr7_129479175_ENST00000355621_length(amino acids)=271AA_BP=187
MMYSPICLTQDEFHPFIEALLPHVRAIAYTWFNLQARKRKYFKKHEKRMSKDEERAVKDELLSEKPEIKQKWASRLLAKLRKDIRQEYRE
DFVLTVTGKKHPCCVLSNPDQKGKIRRIDCLRQADKVWRLDLVMVILFKGIPLESTDGERLMKSPHCTNPALCVQPHHITVSVKELDLFL
AYYVQEQDLTNIFESFLPQLLAYPNPIDPLNGDAAAMYLHRPEEYKQKIKEYIQKYATEEALKEQEEGTGDSSSESSMSDFSEDEAQDME

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

>58898_58898_12_NFIB-UBE2H_NFIB_chr9_14306988_ENST00000397579_UBE2H_chr7_129479175_ENST00000473814_length(amino acids)=271AA_BP=187
MMYSPICLTQDEFHPFIEALLPHVRAIAYTWFNLQARKRKYFKKHEKRMSKDEERAVKDELLSEKPEIKQKWASRLLAKLRKDIRQEYRE
DFVLTVTGKKHPCCVLSNPDQKGKIRRIDCLRQADKVWRLDLVMVILFKGIPLESTDGERLMKSPHCTNPALCVQPHHITVSVKELDLFL
AYYVQEQDLTNIFESFLPQLLAYPNPIDPLNGDAAAMYLHRPEEYKQKIKEYIQKYATEEALKEQEEGTGDSSSESSMSDFSEDEAQDME

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

>58898_58898_13_NFIB-UBE2H_NFIB_chr9_14306988_ENST00000397581_UBE2H_chr7_129479175_ENST00000355621_length(amino acids)=271AA_BP=187
MMYSPICLTQDEFHPFIEALLPHVRAIAYTWFNLQARKRKYFKKHEKRMSKDEERAVKDELLSEKPEIKQKWASRLLAKLRKDIRQEYRE
DFVLTVTGKKHPCCVLSNPDQKGKIRRIDCLRQADKVWRLDLVMVILFKGIPLESTDGERLMKSPHCTNPALCVQPHHITVSVKELDLFL
AYYVQEQDLTNIFESFLPQLLAYPNPIDPLNGDAAAMYLHRPEEYKQKIKEYIQKYATEEALKEQEEGTGDSSSESSMSDFSEDEAQDME

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

>58898_58898_14_NFIB-UBE2H_NFIB_chr9_14306988_ENST00000397581_UBE2H_chr7_129479175_ENST00000473814_length(amino acids)=271AA_BP=187
MMYSPICLTQDEFHPFIEALLPHVRAIAYTWFNLQARKRKYFKKHEKRMSKDEERAVKDELLSEKPEIKQKWASRLLAKLRKDIRQEYRE
DFVLTVTGKKHPCCVLSNPDQKGKIRRIDCLRQADKVWRLDLVMVILFKGIPLESTDGERLMKSPHCTNPALCVQPHHITVSVKELDLFL
AYYVQEQDLTNIFESFLPQLLAYPNPIDPLNGDAAAMYLHRPEEYKQKIKEYIQKYATEEALKEQEEGTGDSSSESSMSDFSEDEAQDME

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

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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/chr9:14306988/chr7:129479175)
- 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
NFIB

O00712

.
FUNCTION: Transcriptional activator of GFAP, essential for proper brain development (PubMed:30388402). 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. {ECO:0000269|PubMed:30388402}.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

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneNFIBchr9:14306988chr7:129479175ENST00000380953-2111_195187.33333333333334495.0DNA bindingCTF/NF-I
HgeneNFIBchr9:14306988chr7:129479175ENST00000380959-291_195187.33333333333334421.0DNA bindingCTF/NF-I
HgeneNFIBchr9:14306988chr7:129479175ENST00000380953-211397_405187.33333333333334495.0Motif9aaTAD
HgeneNFIBchr9:14306988chr7:129479175ENST00000380959-29397_405187.33333333333334421.0Motif9aaTAD
TgeneUBE2Hchr9:14306988chr7:129479175ENST00000355621471_15099.33333333333333184.0DomainUBC core
TgeneUBE2Hchr9:14306988chr7:129479175ENST00000473814251_15068.33333333333333153.0DomainUBC core


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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
NFIBall structure
UBE2H


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 NFIB-UBE2H


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 NFIB-UBE2H


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
HgeneNFIBC0010606Adenoid Cystic Carcinoma1CTD_human
HgeneNFIBC0221355Macrocephaly1GENOMICS_ENGLAND
HgeneNFIBC0557874Global developmental delay1GENOMICS_ENGLAND
HgeneNFIBC3714756Intellectual Disability1GENOMICS_ENGLAND
HgeneNFIBC4748993MACROCEPHALY, ACQUIRED, WITH IMPAIRED INTELLECTUAL DEVELOPMENT1GENOMICS_ENGLAND;UNIPROT