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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:GGNBP2-NEBL

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: GGNBP2-NEBL
FusionPDB ID: 33031
FusionGDB2.0 ID: 33031
HgeneTgene
Gene symbol

GGNBP2

NEBL

Gene ID

79893

10529

Gene namegametogenetin binding protein 2nebulette
SynonymsDIF-3|DIF3|LCRG1|LZK1|ZFP403|ZNF403C10orf113|LASP2|LNEBL|bA165O3.1
Cytomap

17q12

10p12.31

Type of geneprotein-codingprotein-coding
Descriptiongametogenetin-binding protein 2C3HC4-type zinc finger proteinlaryngeal carcinoma related gene 1laryngeal carcinoma-related protein 1zinc finger protein 403nebuletteLIM and SH3 protein 2LIM-nebuletteactin-binding Z-disk protein
Modification date2020031320200313
UniProtAcc

Q9H3C7

O76041

Ensembl transtripts involved in fusion geneENST idsENST00000304718, ENST00000485685, 
ENST00000377119, ENST00000464278, 
ENST00000377122, ENST00000377159, 
ENST00000417816, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score6 X 7 X 6=25212 X 11 X 6=792
# samples 613
** MAII scorelog2(6/252*10)=-2.0703893278914
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(13/792*10)=-2.60698880705116
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)

PubMed: GGNBP2 [Title/Abstract] AND NEBL [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)GGNBP2(34901666)-NEBL(21101869), # samples:3
Anticipated loss of major functional domain due to fusion event.GGNBP2-NEBL 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.
GGNBP2-NEBL 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.
GGNBP2-NEBL seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
GGNBP2-NEBL seems lost the major protein functional domain in Hgene partner, which is a tumor suppressor due to the frame-shifted 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 GGNBP2 (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 NEBL (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
ChimerDB4CESCTCGA-C5-A3HD-01BGGNBP2chr17

34900946

+NEBLchr10

21101869

-
ChimerDB4CESCTCGA-C5-A3HD-01BGGNBP2chr17

34901666

-NEBLchr10

21101869

-
ChimerDB4CESCTCGA-C5-A3HD-01BGGNBP2chr17

34901666

+NEBLchr10

21101869

-


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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)
ENST00000304718GGNBP2chr1734901666+ENST00000377122NEBLchr1021101869-68824092171107296
ENST00000304718GGNBP2chr1734901666+ENST00000417816NEBLchr1021101869-2706409217864215
ENST00000304718GGNBP2chr1734901666+ENST00000377159NEBLchr1021101869-1141409217864215

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
ENST00000304718ENST00000377122GGNBP2chr1734901666+NEBLchr1021101869-0.0003264630.9996736
ENST00000304718ENST00000417816GGNBP2chr1734901666+NEBLchr1021101869-0.0008541170.99914587
ENST00000304718ENST00000377159GGNBP2chr1734901666+NEBLchr1021101869-0.0036267890.99637324

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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

>33031_33031_1_GGNBP2-NEBL_GGNBP2_chr17_34901666_ENST00000304718_NEBL_chr10_21101869_ENST00000377122_length(amino acids)=296AA_BP=64
MGGGGSGGGRNSSGGGGGSWEEVVTVATAASGTMARLVAVCRDGEEEFPFERRQIPLYIDDTLTVKYHEDFEKTKGRGFTPVVDDPVTER
VRKNTQVVSDAAYKGVHPHIVEMDRRPGIIVDLKVWRTDPGSIFDLDPLEDNIQSRSLHMLSEKASHYRRHWSRSHSSSTFGTGLGDDRS
EISEIYPSFSCCSEVTRPSDEGAPVLPGAYQQSHSQGYGYMHQTSVSSMRSMQHSPNLRTYRAMYDYSAQDEDEVSFRDGDYIVNVQPID

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

>33031_33031_2_GGNBP2-NEBL_GGNBP2_chr17_34901666_ENST00000304718_NEBL_chr10_21101869_ENST00000377159_length(amino acids)=215AA_BP=64
MGGGGSGGGRNSSGGGGGSWEEVVTVATAASGTMARLVAVCRDGEEEFPFERRQIPLYIDDTLTVKYHEDFEKTKGRGFTPVVDDPVTER
VRKNTQVVSDAAYKGVHPHIVEMDRRPGIIVAPVLPGAYQQSHSQGYGYMHQTSVSSMRSMQHSPNLRTYRAMYDYSAQDEDEVSFRDGD

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

>33031_33031_3_GGNBP2-NEBL_GGNBP2_chr17_34901666_ENST00000304718_NEBL_chr10_21101869_ENST00000417816_length(amino acids)=215AA_BP=64
MGGGGSGGGRNSSGGGGGSWEEVVTVATAASGTMARLVAVCRDGEEEFPFERRQIPLYIDDTLTVKYHEDFEKTKGRGFTPVVDDPVTER
VRKNTQVVSDAAYKGVHPHIVEMDRRPGIIVAPVLPGAYQQSHSQGYGYMHQTSVSSMRSMQHSPNLRTYRAMYDYSAQDEDEVSFRDGD

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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/chr17:34901666/chr10:21101869)
- 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
GGNBP2

Q9H3C7

NEBL

O76041

FUNCTION: May be involved in spermatogenesis.FUNCTION: Binds to actin and plays an important role in the assembly of the Z-disk. May functionally link sarcomeric actin to the desmin intermediate filaments in the heart muscle sarcomeres (PubMed:27733623). Isoform 2 might play a role in the assembly of focal adhesion (PubMed:15004028). {ECO:0000269|PubMed:15004028, ECO:0000269|PubMed:27733623}.

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
TgeneNEBLchr17:34901666chr10:21101869ENST000003771222228954_1014782.01015.0DomainSH3
TgeneNEBLchr17:34901666chr10:21101869ENST0000041781637954_1014119.0271.0DomainSH3
TgeneNEBLchr17:34901666chr10:21101869ENST000003771222228836_953782.01015.0RegionNote=Linker
TgeneNEBLchr17:34901666chr10:21101869ENST0000041781637836_953119.0271.0RegionNote=Linker
TgeneNEBLchr17:34901666chr10:21101869ENST000003771222228795_830782.01015.0RepeatNote=Nebulin 23
TgeneNEBLchr17:34901666chr10:21101869ENST0000041781637137_172119.0271.0RepeatNote=Nebulin 4
TgeneNEBLchr17:34901666chr10:21101869ENST0000041781637173_205119.0271.0RepeatNote=Nebulin 5
TgeneNEBLchr17:34901666chr10:21101869ENST0000041781637206_241119.0271.0RepeatNote=Nebulin 6
TgeneNEBLchr17:34901666chr10:21101869ENST0000041781637242_278119.0271.0RepeatNote=Nebulin 7
TgeneNEBLchr17:34901666chr10:21101869ENST0000041781637279_313119.0271.0RepeatNote=Nebulin 8
TgeneNEBLchr17:34901666chr10:21101869ENST0000041781637314_348119.0271.0RepeatNote=Nebulin 9
TgeneNEBLchr17:34901666chr10:21101869ENST0000041781637349_385119.0271.0RepeatNote=Nebulin 10
TgeneNEBLchr17:34901666chr10:21101869ENST0000041781637386_422119.0271.0RepeatNote=Nebulin 11
TgeneNEBLchr17:34901666chr10:21101869ENST0000041781637423_459119.0271.0RepeatNote=Nebulin 12
TgeneNEBLchr17:34901666chr10:21101869ENST0000041781637460_496119.0271.0RepeatNote=Nebulin 13
TgeneNEBLchr17:34901666chr10:21101869ENST0000041781637497_533119.0271.0RepeatNote=Nebulin 14
TgeneNEBLchr17:34901666chr10:21101869ENST0000041781637534_569119.0271.0RepeatNote=Nebulin 15
TgeneNEBLchr17:34901666chr10:21101869ENST0000041781637570_599119.0271.0RepeatNote=Nebulin 16
TgeneNEBLchr17:34901666chr10:21101869ENST0000041781637600_635119.0271.0RepeatNote=Nebulin 17
TgeneNEBLchr17:34901666chr10:21101869ENST0000041781637636_666119.0271.0RepeatNote=Nebulin 18
TgeneNEBLchr17:34901666chr10:21101869ENST0000041781637667_693119.0271.0RepeatNote=Nebulin 19
TgeneNEBLchr17:34901666chr10:21101869ENST0000041781637694_728119.0271.0RepeatNote=Nebulin 20
TgeneNEBLchr17:34901666chr10:21101869ENST0000041781637729_759119.0271.0RepeatNote=Nebulin 21
TgeneNEBLchr17:34901666chr10:21101869ENST0000041781637760_794119.0271.0RepeatNote=Nebulin 22
TgeneNEBLchr17:34901666chr10:21101869ENST0000041781637795_830119.0271.0RepeatNote=Nebulin 23

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
TgeneNEBLchr17:34901666chr10:21101869ENST000003771222228100_136782.01015.0RepeatNote=Nebulin 3
TgeneNEBLchr17:34901666chr10:21101869ENST000003771222228137_172782.01015.0RepeatNote=Nebulin 4
TgeneNEBLchr17:34901666chr10:21101869ENST000003771222228173_205782.01015.0RepeatNote=Nebulin 5
TgeneNEBLchr17:34901666chr10:21101869ENST000003771222228206_241782.01015.0RepeatNote=Nebulin 6
TgeneNEBLchr17:34901666chr10:21101869ENST000003771222228242_278782.01015.0RepeatNote=Nebulin 7
TgeneNEBLchr17:34901666chr10:21101869ENST000003771222228279_313782.01015.0RepeatNote=Nebulin 8
TgeneNEBLchr17:34901666chr10:21101869ENST00000377122222829_63782.01015.0RepeatNote=Nebulin 1
TgeneNEBLchr17:34901666chr10:21101869ENST000003771222228314_348782.01015.0RepeatNote=Nebulin 9
TgeneNEBLchr17:34901666chr10:21101869ENST000003771222228349_385782.01015.0RepeatNote=Nebulin 10
TgeneNEBLchr17:34901666chr10:21101869ENST000003771222228386_422782.01015.0RepeatNote=Nebulin 11
TgeneNEBLchr17:34901666chr10:21101869ENST000003771222228423_459782.01015.0RepeatNote=Nebulin 12
TgeneNEBLchr17:34901666chr10:21101869ENST000003771222228460_496782.01015.0RepeatNote=Nebulin 13
TgeneNEBLchr17:34901666chr10:21101869ENST000003771222228497_533782.01015.0RepeatNote=Nebulin 14
TgeneNEBLchr17:34901666chr10:21101869ENST000003771222228534_569782.01015.0RepeatNote=Nebulin 15
TgeneNEBLchr17:34901666chr10:21101869ENST000003771222228570_599782.01015.0RepeatNote=Nebulin 16
TgeneNEBLchr17:34901666chr10:21101869ENST000003771222228600_635782.01015.0RepeatNote=Nebulin 17
TgeneNEBLchr17:34901666chr10:21101869ENST000003771222228636_666782.01015.0RepeatNote=Nebulin 18
TgeneNEBLchr17:34901666chr10:21101869ENST00000377122222864_99782.01015.0RepeatNote=Nebulin 2
TgeneNEBLchr17:34901666chr10:21101869ENST000003771222228667_693782.01015.0RepeatNote=Nebulin 19
TgeneNEBLchr17:34901666chr10:21101869ENST000003771222228694_728782.01015.0RepeatNote=Nebulin 20
TgeneNEBLchr17:34901666chr10:21101869ENST000003771222228729_759782.01015.0RepeatNote=Nebulin 21
TgeneNEBLchr17:34901666chr10:21101869ENST000003771222228760_794782.01015.0RepeatNote=Nebulin 22
TgeneNEBLchr17:34901666chr10:21101869ENST0000041781637100_136119.0271.0RepeatNote=Nebulin 3
TgeneNEBLchr17:34901666chr10:21101869ENST000004178163729_63119.0271.0RepeatNote=Nebulin 1
TgeneNEBLchr17:34901666chr10:21101869ENST000004178163764_99119.0271.0RepeatNote=Nebulin 2


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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
GGNBP2
NEBL


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 GGNBP2-NEBL


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 GGNBP2-NEBL


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