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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:ADD1-ADK (FusionGDB2 ID:2285)

Fusion Gene Summary for ADD1-ADK

Fusion gene summary

Fusion gene information	Fusion gene name: ADD1-ADK
	Fusion gene ID: 2285
		Hgene	Tgene
	Gene symbol	ADD1	ADK
	Gene ID	118	132
	Gene name	adducin 1	adenosine kinase
	Synonyms	ADDA	AK
	Cytomap	4p16.3	10q22.2\|10q11-q24
	Type of gene	protein-coding	protein-coding
	Description	alpha-adducinadducin 1 (alpha)erythrocyte adducin alpha subunit	adenosine kinaseadenosine 5'-phosphotransferasetesticular tissue protein Li 14
	Modification date	20200322	20200313
	UniProtAcc	P35611	P55263
	Ensembl transtripts involved in fusion gene	ENST00000264758, ENST00000398125, ENST00000446856, ENST00000503455, ENST00000513328, ENST00000355842, ENST00000398123, ENST00000398129, ENST00000538860,	ENST00000286621, ENST00000372734, ENST00000539909, ENST00000541550, ENST00000467840,
Fusion gene scores	* DoF score	15 X 13 X 8=1560	30 X 17 X 14=7140
	# samples	19	64
	** MAII score	log2(19/1560*10)=-3.03747470541866 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(64/7140*10)=-3.4797802640291 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0
Context	PubMed: ADD1 [Title/Abstract] AND ADK [Title/Abstract] AND fusion [Title/Abstract]
Most frequent breakpoint	ADD1(2845751)-ADK(76153899), # samples:3
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
Hgene	ADD1	GO:0032092	positive regulation of protein binding	3693401\|7642559
Hgene	ADD1	GO:0051016	barbed-end actin filament capping	8626479
Hgene	ADD1	GO:0051017	actin filament bundle assembly	3693401
Hgene	ADD1	GO:0071277	cellular response to calcium ion	25978380
Hgene	ADD1	GO:1903142	positive regulation of establishment of endothelial barrier	25978380
Hgene	ADD1	GO:1903393	positive regulation of adherens junction organization	25978380

Fusion gene breakpoints across ADD1 (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 ADK (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
ChimerDB4	HNSC	TCGA-CV-5978-01A	ADD1	chr4	2845751	-	ADK	chr10	76153899	+
ChimerDB4	HNSC	TCGA-CV-5978-01A	ADD1	chr4	2845751	+	ADK	chr10	76153899	+
ChimerDB4	HNSC	TCGA-CV-5978	ADD1	chr4	2845751	+	ADK	chr10	76153898	+
ChimerDB4	HNSC	TCGA-CV-5978	ADD1	chr4	2845751	+	ADK	chr10	76153899	+

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Fusion Gene ORF analysis for ADD1-ADK

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
5UTR-3CDS	ENST00000264758	ENST00000286621	ADD1	chr4	2845751	+	ADK	chr10	76153899	+
5UTR-3CDS	ENST00000264758	ENST00000286621	ADD1	chr4	2845751	+	ADK	chr10	76153898	+
5UTR-3CDS	ENST00000264758	ENST00000372734	ADD1	chr4	2845751	+	ADK	chr10	76153899	+
5UTR-3CDS	ENST00000264758	ENST00000372734	ADD1	chr4	2845751	+	ADK	chr10	76153898	+
5UTR-3CDS	ENST00000264758	ENST00000539909	ADD1	chr4	2845751	+	ADK	chr10	76153899	+
5UTR-3CDS	ENST00000264758	ENST00000539909	ADD1	chr4	2845751	+	ADK	chr10	76153898	+
5UTR-3CDS	ENST00000264758	ENST00000541550	ADD1	chr4	2845751	+	ADK	chr10	76153899	+
5UTR-3CDS	ENST00000264758	ENST00000541550	ADD1	chr4	2845751	+	ADK	chr10	76153898	+
5UTR-3CDS	ENST00000398125	ENST00000286621	ADD1	chr4	2845751	+	ADK	chr10	76153899	+
5UTR-3CDS	ENST00000398125	ENST00000286621	ADD1	chr4	2845751	+	ADK	chr10	76153898	+
5UTR-3CDS	ENST00000398125	ENST00000372734	ADD1	chr4	2845751	+	ADK	chr10	76153899	+
5UTR-3CDS	ENST00000398125	ENST00000372734	ADD1	chr4	2845751	+	ADK	chr10	76153898	+
5UTR-3CDS	ENST00000398125	ENST00000539909	ADD1	chr4	2845751	+	ADK	chr10	76153899	+
5UTR-3CDS	ENST00000398125	ENST00000539909	ADD1	chr4	2845751	+	ADK	chr10	76153898	+
5UTR-3CDS	ENST00000398125	ENST00000541550	ADD1	chr4	2845751	+	ADK	chr10	76153899	+
5UTR-3CDS	ENST00000398125	ENST00000541550	ADD1	chr4	2845751	+	ADK	chr10	76153898	+
5UTR-3CDS	ENST00000446856	ENST00000286621	ADD1	chr4	2845751	+	ADK	chr10	76153899	+
5UTR-3CDS	ENST00000446856	ENST00000286621	ADD1	chr4	2845751	+	ADK	chr10	76153898	+
5UTR-3CDS	ENST00000446856	ENST00000372734	ADD1	chr4	2845751	+	ADK	chr10	76153899	+
5UTR-3CDS	ENST00000446856	ENST00000372734	ADD1	chr4	2845751	+	ADK	chr10	76153898	+
5UTR-3CDS	ENST00000446856	ENST00000539909	ADD1	chr4	2845751	+	ADK	chr10	76153899	+
5UTR-3CDS	ENST00000446856	ENST00000539909	ADD1	chr4	2845751	+	ADK	chr10	76153898	+
5UTR-3CDS	ENST00000446856	ENST00000541550	ADD1	chr4	2845751	+	ADK	chr10	76153899	+
5UTR-3CDS	ENST00000446856	ENST00000541550	ADD1	chr4	2845751	+	ADK	chr10	76153898	+
5UTR-3CDS	ENST00000503455	ENST00000286621	ADD1	chr4	2845751	+	ADK	chr10	76153899	+
5UTR-3CDS	ENST00000503455	ENST00000286621	ADD1	chr4	2845751	+	ADK	chr10	76153898	+
5UTR-3CDS	ENST00000503455	ENST00000372734	ADD1	chr4	2845751	+	ADK	chr10	76153899	+
5UTR-3CDS	ENST00000503455	ENST00000372734	ADD1	chr4	2845751	+	ADK	chr10	76153898	+
5UTR-3CDS	ENST00000503455	ENST00000539909	ADD1	chr4	2845751	+	ADK	chr10	76153899	+
5UTR-3CDS	ENST00000503455	ENST00000539909	ADD1	chr4	2845751	+	ADK	chr10	76153898	+
5UTR-3CDS	ENST00000503455	ENST00000541550	ADD1	chr4	2845751	+	ADK	chr10	76153899	+
5UTR-3CDS	ENST00000503455	ENST00000541550	ADD1	chr4	2845751	+	ADK	chr10	76153898	+
5UTR-3CDS	ENST00000513328	ENST00000286621	ADD1	chr4	2845751	+	ADK	chr10	76153899	+
5UTR-3CDS	ENST00000513328	ENST00000286621	ADD1	chr4	2845751	+	ADK	chr10	76153898	+
5UTR-3CDS	ENST00000513328	ENST00000372734	ADD1	chr4	2845751	+	ADK	chr10	76153899	+
5UTR-3CDS	ENST00000513328	ENST00000372734	ADD1	chr4	2845751	+	ADK	chr10	76153898	+
5UTR-3CDS	ENST00000513328	ENST00000539909	ADD1	chr4	2845751	+	ADK	chr10	76153899	+
5UTR-3CDS	ENST00000513328	ENST00000539909	ADD1	chr4	2845751	+	ADK	chr10	76153898	+
5UTR-3CDS	ENST00000513328	ENST00000541550	ADD1	chr4	2845751	+	ADK	chr10	76153899	+
5UTR-3CDS	ENST00000513328	ENST00000541550	ADD1	chr4	2845751	+	ADK	chr10	76153898	+
5UTR-intron	ENST00000264758	ENST00000467840	ADD1	chr4	2845751	+	ADK	chr10	76153899	+
5UTR-intron	ENST00000264758	ENST00000467840	ADD1	chr4	2845751	+	ADK	chr10	76153898	+
5UTR-intron	ENST00000398125	ENST00000467840	ADD1	chr4	2845751	+	ADK	chr10	76153899	+
5UTR-intron	ENST00000398125	ENST00000467840	ADD1	chr4	2845751	+	ADK	chr10	76153898	+
5UTR-intron	ENST00000446856	ENST00000467840	ADD1	chr4	2845751	+	ADK	chr10	76153899	+
5UTR-intron	ENST00000446856	ENST00000467840	ADD1	chr4	2845751	+	ADK	chr10	76153898	+
5UTR-intron	ENST00000503455	ENST00000467840	ADD1	chr4	2845751	+	ADK	chr10	76153899	+
5UTR-intron	ENST00000503455	ENST00000467840	ADD1	chr4	2845751	+	ADK	chr10	76153898	+
5UTR-intron	ENST00000513328	ENST00000467840	ADD1	chr4	2845751	+	ADK	chr10	76153899	+
5UTR-intron	ENST00000513328	ENST00000467840	ADD1	chr4	2845751	+	ADK	chr10	76153898	+
intron-3CDS	ENST00000355842	ENST00000286621	ADD1	chr4	2845751	+	ADK	chr10	76153899	+
intron-3CDS	ENST00000355842	ENST00000286621	ADD1	chr4	2845751	+	ADK	chr10	76153898	+
intron-3CDS	ENST00000355842	ENST00000372734	ADD1	chr4	2845751	+	ADK	chr10	76153899	+
intron-3CDS	ENST00000355842	ENST00000372734	ADD1	chr4	2845751	+	ADK	chr10	76153898	+
intron-3CDS	ENST00000355842	ENST00000539909	ADD1	chr4	2845751	+	ADK	chr10	76153899	+
intron-3CDS	ENST00000355842	ENST00000539909	ADD1	chr4	2845751	+	ADK	chr10	76153898	+
intron-3CDS	ENST00000355842	ENST00000541550	ADD1	chr4	2845751	+	ADK	chr10	76153899	+
intron-3CDS	ENST00000355842	ENST00000541550	ADD1	chr4	2845751	+	ADK	chr10	76153898	+
intron-3CDS	ENST00000398123	ENST00000286621	ADD1	chr4	2845751	+	ADK	chr10	76153899	+
intron-3CDS	ENST00000398123	ENST00000286621	ADD1	chr4	2845751	+	ADK	chr10	76153898	+
intron-3CDS	ENST00000398123	ENST00000372734	ADD1	chr4	2845751	+	ADK	chr10	76153899	+
intron-3CDS	ENST00000398123	ENST00000372734	ADD1	chr4	2845751	+	ADK	chr10	76153898	+
intron-3CDS	ENST00000398123	ENST00000539909	ADD1	chr4	2845751	+	ADK	chr10	76153899	+
intron-3CDS	ENST00000398123	ENST00000539909	ADD1	chr4	2845751	+	ADK	chr10	76153898	+
intron-3CDS	ENST00000398123	ENST00000541550	ADD1	chr4	2845751	+	ADK	chr10	76153899	+
intron-3CDS	ENST00000398123	ENST00000541550	ADD1	chr4	2845751	+	ADK	chr10	76153898	+
intron-3CDS	ENST00000398129	ENST00000286621	ADD1	chr4	2845751	+	ADK	chr10	76153899	+
intron-3CDS	ENST00000398129	ENST00000286621	ADD1	chr4	2845751	+	ADK	chr10	76153898	+
intron-3CDS	ENST00000398129	ENST00000372734	ADD1	chr4	2845751	+	ADK	chr10	76153899	+
intron-3CDS	ENST00000398129	ENST00000372734	ADD1	chr4	2845751	+	ADK	chr10	76153898	+
intron-3CDS	ENST00000398129	ENST00000539909	ADD1	chr4	2845751	+	ADK	chr10	76153899	+
intron-3CDS	ENST00000398129	ENST00000539909	ADD1	chr4	2845751	+	ADK	chr10	76153898	+
intron-3CDS	ENST00000398129	ENST00000541550	ADD1	chr4	2845751	+	ADK	chr10	76153899	+
intron-3CDS	ENST00000398129	ENST00000541550	ADD1	chr4	2845751	+	ADK	chr10	76153898	+
intron-3CDS	ENST00000538860	ENST00000286621	ADD1	chr4	2845751	+	ADK	chr10	76153899	+
intron-3CDS	ENST00000538860	ENST00000286621	ADD1	chr4	2845751	+	ADK	chr10	76153898	+
intron-3CDS	ENST00000538860	ENST00000372734	ADD1	chr4	2845751	+	ADK	chr10	76153899	+
intron-3CDS	ENST00000538860	ENST00000372734	ADD1	chr4	2845751	+	ADK	chr10	76153898	+
intron-3CDS	ENST00000538860	ENST00000539909	ADD1	chr4	2845751	+	ADK	chr10	76153899	+
intron-3CDS	ENST00000538860	ENST00000539909	ADD1	chr4	2845751	+	ADK	chr10	76153898	+
intron-3CDS	ENST00000538860	ENST00000541550	ADD1	chr4	2845751	+	ADK	chr10	76153899	+
intron-3CDS	ENST00000538860	ENST00000541550	ADD1	chr4	2845751	+	ADK	chr10	76153898	+
intron-intron	ENST00000355842	ENST00000467840	ADD1	chr4	2845751	+	ADK	chr10	76153899	+
intron-intron	ENST00000355842	ENST00000467840	ADD1	chr4	2845751	+	ADK	chr10	76153898	+
intron-intron	ENST00000398123	ENST00000467840	ADD1	chr4	2845751	+	ADK	chr10	76153899	+
intron-intron	ENST00000398123	ENST00000467840	ADD1	chr4	2845751	+	ADK	chr10	76153898	+
intron-intron	ENST00000398129	ENST00000467840	ADD1	chr4	2845751	+	ADK	chr10	76153899	+
intron-intron	ENST00000398129	ENST00000467840	ADD1	chr4	2845751	+	ADK	chr10	76153898	+
intron-intron	ENST00000538860	ENST00000467840	ADD1	chr4	2845751	+	ADK	chr10	76153899	+
intron-intron	ENST00000538860	ENST00000467840	ADD1	chr4	2845751	+	ADK	chr10	76153898	+

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 ADD1-ADK

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)
ADD1	chr4	2845751	+	ADK	chr10	76153898	+	1.74E-08	1
ADD1	chr4	2845751	+	ADK	chr10	76153898	+	1.74E-08	1
ADD1	chr4	2845751	+	ADK	chr10	76153898	+	1.74E-08	1
ADD1	chr4	2845751	+	ADK	chr10	76153898	+	1.74E-08	1

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 ADD1-ADK

Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:2845751/:76153899)
- 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
ADD1 P35611	ADK P55263
FUNCTION: Membrane-cytoskeleton-associated protein that promotes the assembly of the spectrin-actin network. Binds to calmodulin.	FUNCTION: ATP dependent phosphorylation of adenosine and other related nucleoside analogs to monophosphate derivatives. Serves as a potential regulator of concentrations of extracellular adenosine and intracellular adenine nucleotides.

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 ADD1-ADK

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 ADD1-ADK

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 ADD1-ADK

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 ADD1-ADK

Diseases associated with fusion partners.
(DisGeNet 4.0)

Partner

Gene

Disease ID

Disease name

# pubmeds

Source