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Center for Computational Systems Medicine
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Fusion Gene and Fusion Protein Summary

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Fusion Amino Acid Sequences (multiple BPs and multiple gene isoforms)

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Fusion Protein Breakpoint Sequences - (for the Screening of the FusionNeoAntigens)

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Potential FusionNeoAntigens in HLA I - (netMHCpan v4.1 + deepHLApan v1.1)

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Potential FusionNeoAntigens in HLA II - (netMHCIIpan v4.1)

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Fusion Breakpoint 14 AA Peptide Structure - (RoseTTAFold)

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Filtering FusionNeoAntigens Through Checking the Interaction with HLAs in 3D - (Glide)

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Vaccine Design for the FusionNeoAntigens (RNA/protein sequences)

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Potential target of CAR-T therapy development

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Information on the samples that have these potential fusion neoantigens

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Fusion Protein Targeting Drugs - (Manual Curation)

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Fusion Protein Related diseases - (Manual Curation)

Fusion Protein:DZIP1-GTF2I

Fusion Gene and Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: DZIP1-GTF2I
FusionPDB ID: 24755
FusionGDB2.0 ID: 24755
HgeneTgene
Gene symbol

DZIP1

GTF2I

Gene ID

22873

2969

Gene nameDAZ interacting zinc finger protein 1general transcription factor IIi
SynonymsDZIP|DZIPt1BAP135|BTKAP1|DIWS|GTFII-I|IB291|SPIN|TFII-I|WBS|WBSCR6
Cytomap

13q32.1

7q11.23

Type of geneprotein-codingprotein-coding
Descriptionzinc finger protein DZIP1DAZ interacting protein 1DAZ interacting protein testis1DAZ-interacting protein 1/2zinc finger DAZ interacting protein 1zinc-finger protein DZIPt1general transcription factor II-IBTK-associated protein, 135kDBruton tyrosine kinase-associated protein 135SRF-Phox1-interacting proteinWilliams-Beuren syndrome chromosome region 6
Modification date2020031320200313
UniProtAcc

Q8IYY4

Main function of 5'-partner protein: FUNCTION: Involved in primary cilium formation (PubMed:19852954, PubMed:28530676). Probably acts as a transition zone protein required for localization of PKD1/PC1 and PKD2/PC2 to the ciliary membrane (PubMed:28530676). {ECO:0000269|PubMed:19852954, ECO:0000269|PubMed:28530676}.

Q6EKJ0

Main function of 5'-partner protein:
Ensembl transtripts involved in fusion geneENST idsENST00000347108, ENST00000361156, 
ENST00000361396, ENST00000376829, 
ENST00000466027, 
ENST00000438130, 
ENST00000443166, ENST00000324896, 
ENST00000346152, ENST00000353920, 
ENST00000416070, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score8 X 7 X 3=16821 X 20 X 13=5460
# samples 825
** MAII scorelog2(8/168*10)=-1.0703893278914
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(25/5460*10)=-4.44890095114513
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Fusion gene context

PubMed: DZIP1 [Title/Abstract] AND GTF2I [Title/Abstract] AND fusion [Title/Abstract]

Fusion neoantigen context

PubMed: DZIP1 [Title/Abstract] AND GTF2I [Title/Abstract] AND neoantigen [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)DZIP1(96236989)-GTF2I(74171151), # samples:1
Anticipated loss of major functional domain due to fusion event.DZIP1-GTF2I 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.
DZIP1-GTF2I 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.
DZIP1-GTF2I 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.
DZIP1-GTF2I 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.
DZIP1-GTF2I seems lost the major protein functional domain in Hgene partner, which is a transcription factor due to the frame-shifted ORF.
DZIP1-GTF2I seems lost the major protein functional domain in Tgene partner, which is a epigenetic factor due to the frame-shifted ORF.
DZIP1-GTF2I seems lost the major protein functional domain in Tgene partner, which is a essential gene due to the frame-shifted ORF.
DZIP1-GTF2I seems lost the major protein functional domain in Tgene partner, which is a transcription factor 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
TgeneGTF2I

GO:0016525

negative regulation of angiogenesis

19242469



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/chr13:96236989/chr7:74171151)
- 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 buttonRetention analysis results 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, are available here.

check buttonFusion gene breakpoints across DZIP1 (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 GTF2I (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 Amino Acid Sequences


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)
ENST00000361156DZIP1chr1396236989-ENST00000324896GTF2Ichr774171151+420529003733042889
ENST00000361156DZIP1chr1396236989-ENST00000353920GTF2Ichr774171151+420529003733042889
ENST00000361156DZIP1chr1396236989-ENST00000346152GTF2Ichr774171151+420529003733042889
ENST00000361156DZIP1chr1396236989-ENST00000416070GTF2Ichr774171151+420929003733042889
ENST00000347108DZIP1chr1396236989-ENST00000324896GTF2Ichr774171151+426229573733099908
ENST00000347108DZIP1chr1396236989-ENST00000353920GTF2Ichr774171151+426229573733099908
ENST00000347108DZIP1chr1396236989-ENST00000346152GTF2Ichr774171151+426229573733099908
ENST00000347108DZIP1chr1396236989-ENST00000416070GTF2Ichr774171151+426629573733099908

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
ENST00000361156ENST00000324896DZIP1chr1396236989-GTF2Ichr774171151+0.0011196160.9988803
ENST00000361156ENST00000353920DZIP1chr1396236989-GTF2Ichr774171151+0.0011196160.9988803
ENST00000361156ENST00000346152DZIP1chr1396236989-GTF2Ichr774171151+0.0011196160.9988803
ENST00000361156ENST00000416070DZIP1chr1396236989-GTF2Ichr774171151+0.0011070110.99889296
ENST00000347108ENST00000324896DZIP1chr1396236989-GTF2Ichr774171151+0.0012071940.99879277
ENST00000347108ENST00000353920DZIP1chr1396236989-GTF2Ichr774171151+0.0012071940.99879277
ENST00000347108ENST00000346152DZIP1chr1396236989-GTF2Ichr774171151+0.0012071940.99879277
ENST00000347108ENST00000416070DZIP1chr1396236989-GTF2Ichr774171151+0.0011918290.99880815

check button Predicted full-length fusion amino acid sequences. For individual full-length fusion transcript sequence from FusionPDB, we ran ORFfinder and chose the longest ORF among all the predicted ones.

Get the fusion protein sequences from here.

Fusion protein sequence information is available in the fasta format.
>FusionGDB ID_FusionGDB isoform ID_FGname_Hgene_Hchr_Hbp_Henst_Tgene_Tchr_Tbp_Tenst_length(fusion AA) seq_BP

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Fusion Protein Breakpoint Sequences for DZIP1-GTF2I

check button +/-13 AA sequence from the breakpoints of the fusion protein sequences.
HgeneHchrHbpTgeneTchrTbpLength(fusion protein)BP in fusion proteinPeptide
DZIP1chr1396236989GTF2Ichr7741711512900842AWGAFNPKGPKGEELVDQSESEGPVI
DZIP1chr1396236989GTF2Ichr7741711512957861AWGAFNPKGPKGEELVDQSESEGPVI

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Potential FusionNeoAntigen Information of DZIP1-GTF2I in HLA I

check button Multiple sequence alignments of the potential FusionNeoAntigens per fusion breakpoints. If the MSA is empty, then it means that there were predicted fusion neoantigens in this fusion breakpoint, but those predicted fusion neoantigens were not across the breakpoint, which is not fusion-specific.
DZIP1-GTF2I_96236989_74171151.msa

check button Potential FusionNeoAntigen Information
* We used NetMHCpan v4.1 (%rank<0.5) and deepHLApan v1.1 (immunogenic score>0.5)
Fusion geneHchrHbpTgeneTchrTbpHLA IFusionNeoAntigen peptideBinding scoreImmunogenic scoreNeoantigen start (at BP 13)Neoantigen end (at BP 13)
DZIP1-GTF2Ichr1396236989chr7741711512957HLA-B08:01NPKGPKGEEL0.95120.5617515
DZIP1-GTF2Ichr1396236989chr7741711512957HLA-B08:09NPKGPKGEEL0.89160.5048515
DZIP1-GTF2Ichr1396236989chr7741711512957HLA-B35:03NPKGPKGEEL0.59840.6623515
DZIP1-GTF2Ichr1396236989chr7741711512957HLA-B35:04NPKGPKGEEL0.35050.9072515
DZIP1-GTF2Ichr1396236989chr7741711512957HLA-B35:02NPKGPKGEEL0.35050.9072515
DZIP1-GTF2Ichr1396236989chr7741711512957HLA-C01:17KGPKGEEL0.99610.9326715
DZIP1-GTF2Ichr1396236989chr7741711512957HLA-B42:02NPKGPKGEEL0.95990.5547515
DZIP1-GTF2Ichr1396236989chr7741711512957HLA-B42:01NPKGPKGEEL0.94130.5485515
DZIP1-GTF2Ichr1396236989chr7741711512957HLA-B39:10NPKGPKGEEL0.64820.8974515
DZIP1-GTF2Ichr1396236989chr7741711512957HLA-B35:12NPKGPKGEEL0.35050.9072515
DZIP1-GTF2Ichr1396236989chr7741711512957HLA-C01:03KGPKGEEL0.9990.9313715
DZIP1-GTF2Ichr1396236989chr7741711512957HLA-C01:02KGPKGEEL0.99760.9324715
DZIP1-GTF2Ichr1396236989chr7741711512957HLA-B08:18NPKGPKGEEL0.95120.5617515
DZIP1-GTF2Ichr1396236989chr7741711512957HLA-B08:12NPKGPKGEEL0.73790.6116515
DZIP1-GTF2Ichr1396236989chr7741711512957HLA-B67:01NPKGPKGEEL0.59420.619515
DZIP1-GTF2Ichr1396236989chr7741711512957HLA-B35:09NPKGPKGEEL0.35050.9072515

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Potential FusionNeoAntigen Information of DZIP1-GTF2I in HLA II

check button Multiple sequence alignments of the potential FusionNeoAntigens per fusion breakpoints. If the MSA is empty, then it means that there were predicted fusion neoantigens in this fusion breakpoint, but those predicted fusion neoantigens were not across the breakpoint, which is not fusion-specific.

check button Potential FusionNeoAntigen Information
* We used NetMHCIIpan v4.1 (%rank<0.5).
Fusion geneHchrHbpTgeneTchrTbpHLA IIFusionNeoAntigen peptideNeoantigen start (at BP 13)Neoantigen end (at BP 13)

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Fusion breakpoint peptide structures of DZIP1-GTF2I

check button3D structures of the fusion breakpoint peptide of 14AA sequence that have potential fusion neoantigens
* The minimum length of the amino acid sequence in RoseTTAFold is 14AA. Here, we predicted the 14AA fusion protein breakpoint sequence not the fusion neoantigen peptide, which is shorter than 14 AA.
File nameBPseqHgeneTgeneHchrHbpTchrTbpAAlen
6726PKGPKGEELVDQSEDZIP1GTF2Ichr1396236989chr7741711512957

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Filtering FusionNeoAntigens Through Checking the Interaction with HLAs in 3D of DZIP1-GTF2I

check buttonVirtual screening between 25 HLAs (from PDB) and FusionNeoAntigens
* We used Glide to predict the interaction between HLAs and neoantigens.
HLA allelePDB IDFile nameBPseqDocking scoreGlide score
HLA-B14:023BVN6726PKGPKGEELVDQSE-7.9962-8.1096
HLA-B14:023BVN6726PKGPKGEELVDQSE-5.70842-6.74372
HLA-B52:013W396726PKGPKGEELVDQSE-6.83737-6.95077
HLA-B52:013W396726PKGPKGEELVDQSE-4.4836-5.5189
HLA-A11:014UQ26726PKGPKGEELVDQSE-10.0067-10.1201
HLA-A11:014UQ26726PKGPKGEELVDQSE-9.03915-10.0745
HLA-A24:025HGA6726PKGPKGEELVDQSE-6.56204-6.67544
HLA-A24:025HGA6726PKGPKGEELVDQSE-5.42271-6.45801
HLA-B44:053DX86726PKGPKGEELVDQSE-7.85648-8.89178
HLA-B44:053DX86726PKGPKGEELVDQSE-5.3978-5.5112
HLA-A02:016TDR6726PKGPKGEELVDQSE-3.37154-4.40684

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Vaccine Design for the FusionNeoAntigens of DZIP1-GTF2I

check button mRNA and peptide sequences of FusionNeoAntigens that have potential interaction with HLA-Is.
Fusion geneHchrHbpTchrTbpStart in +/-13AAEnd in +/-13AAFusionNeoAntigen peptide sequenceFusionNeoAntigen RNA sequence
DZIP1-GTF2Ichr1396236989chr774171151515NPKGPKGEELATCCTAAGGGGCCAAAGGGAGAAGAGCTGG
DZIP1-GTF2Ichr1396236989chr774171151715KGPKGEELAGGGGCCAAAGGGAGAAGAGCTGG

check button mRNA and peptide sequences of FusionNeoAntigens that have potential interaction with HLA-IIs.
Fusion geneHchrHbpTchrTbpStart in +/-13AAEnd in +/-13AAFusionNeoAntigen peptideFusionNEoAntigen RNA sequence

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Information of the samples that have these potential fusion neoantigens of DZIP1-GTF2I

check button These samples were reported as having these fusion breakpoints. For individual breakpoints, we checked the open reading frames considering multiple gene isoforms and chose the in-frame fusion genes only. Then, we made fusion protein sequences and predicted the fusion neoantigens. These fusion-positive samples may have these potential fusion neoantigens.
Cancer typeFusion geneHchrHbpHenstTchrTbpTenstSample
OVDZIP1-GTF2Ichr1396236989ENST00000347108chr774171151ENST00000324896TCGA-24-2019

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Potential target of CAR-T therapy development for DZIP1-GTF2I

check button Predicted 3D structure. We used RoseTTAFold.

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, to provide the retention of the transmembrane domain, we only show the protein feature retention information of those transmembrane features


* Minus value of BPloci means that the break point is located before the CDS.
- In-frame and retained 'Transmembrane'.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note

check button Subcellular localization prediction of the transmembrane domain retained fusion proteins
* We used DeepLoc 1.0. The order of the X-axis of the barplot is as follows: Entry_ID, Localization, Type, Nucleus, Cytoplasm, Extracellular, Mitochondrion, Cell_membrane, Endoplasmic_reticulum, Plastid, Golgi.apparatus, Lysosome.Vacuole, Peroxisome. Y-axis is the output score of DeepLoc. Clicking the image will open a new tab with a large image.
HgeneHchrHbpHenstTgeneTchrTbpTenstDeepLoc result

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Related Drugs to DZIP1-GTF2I

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 DZIP1-GTF2I

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