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	Fusion Gene Summary
	Fusion Gene ORF analysis
	Fusion Genomic Features
	Fusion Protein Features
	Fusion Gene Sequence
	Fusion Gene PPI analysis
	Related Drugs
	Related Diseases

Fusion gene:DIAPH3-TNIP1 (FusionGDB2 ID:22782)

Fusion Gene Summary for DIAPH3-TNIP1

Fusion gene summary

Fusion gene information	Fusion gene name: DIAPH3-TNIP1
	Fusion gene ID: 22782
		Hgene	Tgene
	Gene symbol	DIAPH3	TNIP1
	Gene ID	81624	10318
	Gene name	diaphanous related formin 3	TNFAIP3 interacting protein 1
	Synonyms	AN\|AUNA1\|DIA2\|DRF3\|NSDAN\|diap3\|mDia2	ABIN-1\|NAF1\|VAN\|nip40-1
	Cytomap	13q21.2	5q33.1
	Type of gene	protein-coding	protein-coding
	Description	protein diaphanous homolog 3diaphanous homolog 3	TNFAIP3-interacting protein 1A20-binding inhibitor of NF-kappa-B activation 1HIV-1 Nef-interacting proteinNef-associated factor 1 SNPvirion-associated nuclear shuttling protein
	Modification date	20200313	20200327
	UniProtAcc	Q9NSV4	Q15025
	Ensembl transtripts involved in fusion gene	ENST00000267215, ENST00000377908, ENST00000400319, ENST00000400320, ENST00000400324, ENST00000400330, ENST00000465066,	ENST00000315050, ENST00000389378, ENST00000518977, ENST00000520931, ENST00000521423, ENST00000521591, ENST00000522226, ENST00000523200, ENST00000523338, ENST00000524280,
Fusion gene scores	* DoF score	16 X 12 X 4=768	1 X 1 X 1=1
	# samples	18	1
	** MAII score	log2(18/768*10)=-2.09310940439148 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(1/1*10)=3.32192809488736
Context	PubMed: DIAPH3 [Title/Abstract] AND TNIP1 [Title/Abstract] AND fusion [Title/Abstract]
Most frequent breakpoint	DIAPH3(60566981)-TNIP1(150409510), # samples:1
Anticipated loss of major functional domain due to fusion event.

* DoF score (Degree of Frequency) = # partners X # break points X # cancer types
** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10)

Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez

Partner	Gene	GO ID	GO term	PubMed ID
Tgene	TNIP1	GO:0009101	glycoprotein biosynthetic process	9923610
Tgene	TNIP1	GO:0043124	negative regulation of I-kappaB kinase/NF-kappaB signaling	16684768
Tgene	TNIP1	GO:0070373	negative regulation of ERK1 and ERK2 cascade	12220502
Tgene	TNIP1	GO:0085032	modulation by symbiont of host I-kappaB kinase/NF-kappaB cascade	20010814
Tgene	TNIP1	GO:1903003	positive regulation of protein deubiquitination	16684768

Fusion gene breakpoints across DIAPH3 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

Fusion gene breakpoints across TNIP1 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

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.

Source	Disease	Sample	Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand
ChiTaRS5.0	N/A	CB048687	DIAPH3	chr13	60566981	-	TNIP1	chr5	150409510	+

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Fusion Gene ORF analysis for DIAPH3-TNIP1

Open reading frame (ORF) analsis of fusion genes based on Ensembl gene isoform structure.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.

ORF	Henst	Tenst	Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand
intron-intron	ENST00000267215	ENST00000315050	DIAPH3	chr13	60566981	-	TNIP1	chr5	150409510	+
intron-intron	ENST00000267215	ENST00000389378	DIAPH3	chr13	60566981	-	TNIP1	chr5	150409510	+
intron-intron	ENST00000267215	ENST00000518977	DIAPH3	chr13	60566981	-	TNIP1	chr5	150409510	+
intron-intron	ENST00000267215	ENST00000520931	DIAPH3	chr13	60566981	-	TNIP1	chr5	150409510	+
intron-intron	ENST00000267215	ENST00000521423	DIAPH3	chr13	60566981	-	TNIP1	chr5	150409510	+
intron-intron	ENST00000267215	ENST00000521591	DIAPH3	chr13	60566981	-	TNIP1	chr5	150409510	+
intron-intron	ENST00000267215	ENST00000522226	DIAPH3	chr13	60566981	-	TNIP1	chr5	150409510	+
intron-intron	ENST00000267215	ENST00000523200	DIAPH3	chr13	60566981	-	TNIP1	chr5	150409510	+
intron-intron	ENST00000267215	ENST00000523338	DIAPH3	chr13	60566981	-	TNIP1	chr5	150409510	+
intron-intron	ENST00000267215	ENST00000524280	DIAPH3	chr13	60566981	-	TNIP1	chr5	150409510	+
intron-intron	ENST00000377908	ENST00000315050	DIAPH3	chr13	60566981	-	TNIP1	chr5	150409510	+
intron-intron	ENST00000377908	ENST00000389378	DIAPH3	chr13	60566981	-	TNIP1	chr5	150409510	+
intron-intron	ENST00000377908	ENST00000518977	DIAPH3	chr13	60566981	-	TNIP1	chr5	150409510	+
intron-intron	ENST00000377908	ENST00000520931	DIAPH3	chr13	60566981	-	TNIP1	chr5	150409510	+
intron-intron	ENST00000377908	ENST00000521423	DIAPH3	chr13	60566981	-	TNIP1	chr5	150409510	+
intron-intron	ENST00000377908	ENST00000521591	DIAPH3	chr13	60566981	-	TNIP1	chr5	150409510	+
intron-intron	ENST00000377908	ENST00000522226	DIAPH3	chr13	60566981	-	TNIP1	chr5	150409510	+
intron-intron	ENST00000377908	ENST00000523200	DIAPH3	chr13	60566981	-	TNIP1	chr5	150409510	+
intron-intron	ENST00000377908	ENST00000523338	DIAPH3	chr13	60566981	-	TNIP1	chr5	150409510	+
intron-intron	ENST00000377908	ENST00000524280	DIAPH3	chr13	60566981	-	TNIP1	chr5	150409510	+
intron-intron	ENST00000400319	ENST00000315050	DIAPH3	chr13	60566981	-	TNIP1	chr5	150409510	+
intron-intron	ENST00000400319	ENST00000389378	DIAPH3	chr13	60566981	-	TNIP1	chr5	150409510	+
intron-intron	ENST00000400319	ENST00000518977	DIAPH3	chr13	60566981	-	TNIP1	chr5	150409510	+
intron-intron	ENST00000400319	ENST00000520931	DIAPH3	chr13	60566981	-	TNIP1	chr5	150409510	+
intron-intron	ENST00000400319	ENST00000521423	DIAPH3	chr13	60566981	-	TNIP1	chr5	150409510	+
intron-intron	ENST00000400319	ENST00000521591	DIAPH3	chr13	60566981	-	TNIP1	chr5	150409510	+
intron-intron	ENST00000400319	ENST00000522226	DIAPH3	chr13	60566981	-	TNIP1	chr5	150409510	+
intron-intron	ENST00000400319	ENST00000523200	DIAPH3	chr13	60566981	-	TNIP1	chr5	150409510	+
intron-intron	ENST00000400319	ENST00000523338	DIAPH3	chr13	60566981	-	TNIP1	chr5	150409510	+
intron-intron	ENST00000400319	ENST00000524280	DIAPH3	chr13	60566981	-	TNIP1	chr5	150409510	+
intron-intron	ENST00000400320	ENST00000315050	DIAPH3	chr13	60566981	-	TNIP1	chr5	150409510	+
intron-intron	ENST00000400320	ENST00000389378	DIAPH3	chr13	60566981	-	TNIP1	chr5	150409510	+
intron-intron	ENST00000400320	ENST00000518977	DIAPH3	chr13	60566981	-	TNIP1	chr5	150409510	+
intron-intron	ENST00000400320	ENST00000520931	DIAPH3	chr13	60566981	-	TNIP1	chr5	150409510	+
intron-intron	ENST00000400320	ENST00000521423	DIAPH3	chr13	60566981	-	TNIP1	chr5	150409510	+
intron-intron	ENST00000400320	ENST00000521591	DIAPH3	chr13	60566981	-	TNIP1	chr5	150409510	+
intron-intron	ENST00000400320	ENST00000522226	DIAPH3	chr13	60566981	-	TNIP1	chr5	150409510	+
intron-intron	ENST00000400320	ENST00000523200	DIAPH3	chr13	60566981	-	TNIP1	chr5	150409510	+
intron-intron	ENST00000400320	ENST00000523338	DIAPH3	chr13	60566981	-	TNIP1	chr5	150409510	+
intron-intron	ENST00000400320	ENST00000524280	DIAPH3	chr13	60566981	-	TNIP1	chr5	150409510	+
intron-intron	ENST00000400324	ENST00000315050	DIAPH3	chr13	60566981	-	TNIP1	chr5	150409510	+
intron-intron	ENST00000400324	ENST00000389378	DIAPH3	chr13	60566981	-	TNIP1	chr5	150409510	+
intron-intron	ENST00000400324	ENST00000518977	DIAPH3	chr13	60566981	-	TNIP1	chr5	150409510	+
intron-intron	ENST00000400324	ENST00000520931	DIAPH3	chr13	60566981	-	TNIP1	chr5	150409510	+
intron-intron	ENST00000400324	ENST00000521423	DIAPH3	chr13	60566981	-	TNIP1	chr5	150409510	+
intron-intron	ENST00000400324	ENST00000521591	DIAPH3	chr13	60566981	-	TNIP1	chr5	150409510	+
intron-intron	ENST00000400324	ENST00000522226	DIAPH3	chr13	60566981	-	TNIP1	chr5	150409510	+
intron-intron	ENST00000400324	ENST00000523200	DIAPH3	chr13	60566981	-	TNIP1	chr5	150409510	+
intron-intron	ENST00000400324	ENST00000523338	DIAPH3	chr13	60566981	-	TNIP1	chr5	150409510	+
intron-intron	ENST00000400324	ENST00000524280	DIAPH3	chr13	60566981	-	TNIP1	chr5	150409510	+
intron-intron	ENST00000400330	ENST00000315050	DIAPH3	chr13	60566981	-	TNIP1	chr5	150409510	+
intron-intron	ENST00000400330	ENST00000389378	DIAPH3	chr13	60566981	-	TNIP1	chr5	150409510	+
intron-intron	ENST00000400330	ENST00000518977	DIAPH3	chr13	60566981	-	TNIP1	chr5	150409510	+
intron-intron	ENST00000400330	ENST00000520931	DIAPH3	chr13	60566981	-	TNIP1	chr5	150409510	+
intron-intron	ENST00000400330	ENST00000521423	DIAPH3	chr13	60566981	-	TNIP1	chr5	150409510	+
intron-intron	ENST00000400330	ENST00000521591	DIAPH3	chr13	60566981	-	TNIP1	chr5	150409510	+
intron-intron	ENST00000400330	ENST00000522226	DIAPH3	chr13	60566981	-	TNIP1	chr5	150409510	+
intron-intron	ENST00000400330	ENST00000523200	DIAPH3	chr13	60566981	-	TNIP1	chr5	150409510	+
intron-intron	ENST00000400330	ENST00000523338	DIAPH3	chr13	60566981	-	TNIP1	chr5	150409510	+
intron-intron	ENST00000400330	ENST00000524280	DIAPH3	chr13	60566981	-	TNIP1	chr5	150409510	+
intron-intron	ENST00000465066	ENST00000315050	DIAPH3	chr13	60566981	-	TNIP1	chr5	150409510	+
intron-intron	ENST00000465066	ENST00000389378	DIAPH3	chr13	60566981	-	TNIP1	chr5	150409510	+
intron-intron	ENST00000465066	ENST00000518977	DIAPH3	chr13	60566981	-	TNIP1	chr5	150409510	+
intron-intron	ENST00000465066	ENST00000520931	DIAPH3	chr13	60566981	-	TNIP1	chr5	150409510	+
intron-intron	ENST00000465066	ENST00000521423	DIAPH3	chr13	60566981	-	TNIP1	chr5	150409510	+
intron-intron	ENST00000465066	ENST00000521591	DIAPH3	chr13	60566981	-	TNIP1	chr5	150409510	+
intron-intron	ENST00000465066	ENST00000522226	DIAPH3	chr13	60566981	-	TNIP1	chr5	150409510	+
intron-intron	ENST00000465066	ENST00000523200	DIAPH3	chr13	60566981	-	TNIP1	chr5	150409510	+
intron-intron	ENST00000465066	ENST00000523338	DIAPH3	chr13	60566981	-	TNIP1	chr5	150409510	+
intron-intron	ENST00000465066	ENST00000524280	DIAPH3	chr13	60566981	-	TNIP1	chr5	150409510	+

ORFfinder result based on the fusion transcript sequence of in-frame fusion genes.

Henst

Tenst

Hgene

Hchr

Hbp

Hstrand

Tgene

Tchr

Tbp

Tstrand

Seq length
(transcript)

BP loci
(transcript)

Predicted start
(transcript)

Predicted stop
(transcript)

Seq length
(amino acids)

DeepORF 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.

Henst

Tenst

Hgene

Hchr

Hbp

Hstrand

Tgene

Tchr

Tbp

Tstrand

No-coding score

Coding score

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Fusion Genomic Features for DIAPH3-TNIP1

FusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints.

Hgene

Hchr

Hbp

Hstrand

Tgene

Tchr

Tbp

Tstrand

1-p

p (fusion gene breakpoint)

Distribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page.

Distribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page.

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Fusion Protein Features for DIAPH3-TNIP1

Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:60566981/:150409510)
- 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.

Main function of each fusion partner protein. (from UniProt)

Hgene	Tgene
DIAPH3 Q9NSV4	TNIP1 Q15025
FUNCTION: Actin nucleation and elongation factor required for the assembly of F-actin structures, such as actin cables and stress fibers. Required for cytokinesis, stress fiber formation and transcriptional activation of the serum response factor. Binds to GTP-bound form of Rho and to profilin: acts in a Rho-dependent manner to recruit profilin to the membrane, where it promotes actin polymerization. DFR proteins couple Rho and Src tyrosine kinase during signaling and the regulation of actin dynamics. Also acts as an actin nucleation and elongation factor in the nucleus by promoting nuclear actin polymerization inside the nucleus to drive serum-dependent SRF-MRTFA activity. {ECO:0000250\|UniProtKB:Q9Z207}.	FUNCTION: Inhibits NF-kappa-B activation and TNF-induced NF-kappa-B-dependent gene expression by regulating A20/TNFAIP3-mediated deubiquitination of IKBKG; proposed to link A20/TNFAIP3 to ubiquitinated IKBKG. Involved in regulation of EGF-induced ERK1/ERK2 signaling pathway; blocks MAPK3/MAPK1 nuclear translocation and MAPK1-dependent transcription. Increases cell surface CD4(T4) antigen expression. Involved in the anti-inflammatory response of macrophages and positively regulates TLR-induced activation of CEBPB. Involved in the prevention of autoimmunity; this function implicates binding to polyubiquitin. Involved in leukocyte integrin activation during inflammation; this function is mediated by association with SELPLG and dependent on phosphorylation by SRC-family kinases. Interacts with HIV-1 matrix protein and is packaged into virions and overexpression can inhibit viral replication. May regulate matrix nuclear localization, both nuclear import of PIC (Preintegration complex) and export of GAG polyprotein and viral genomic RNA during virion production. In case of infection, promotes association of IKBKG with Shigella flexneri E3 ubiquitin-protein ligase ipah9.8 p which in turn promotes polyubiquitination of IKBKG leading to its proteasome-dependent degradation and thus is perturbing NF-kappa-B activation during bacterial infection. {ECO:0000269\|PubMed:12220502, ECO:0000269\|PubMed:16684768, ECO:0000269\|PubMed:17016622, ECO:0000269\|PubMed:17632516, ECO:0000269\|PubMed:20010814}.

Retention 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.

- In-frame and retained protein feature among the 13 regional features.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Protein feature

Protein feature note

- In-frame and not-retained protein feature among the 13 regional features.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Protein feature

Protein feature note

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Fusion Gene Sequence for DIAPH3-TNIP1

For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones.

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Fusion Gene PPI Analysis for DIAPH3-TNIP1

Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in
ChiPPI page.

Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)

Hgene

Hgene's interactors

Tgene

Tgene's interactors

- Retained PPIs in in-frame fusion.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Still interaction with

- Lost PPIs in in-frame fusion.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Interaction lost with

- Retained PPIs, but lost function due to frame-shift fusion.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Interaction lost with

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Related Drugs for DIAPH3-TNIP1

Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)

Partner

Gene

UniProtAcc

DrugBank ID

Drug name

Drug activity

Drug type

Drug status

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Related Diseases for DIAPH3-TNIP1

Diseases associated with fusion partners.
(DisGeNet 4.0)

Partner

Gene

Disease ID

Disease name

# pubmeds

Source