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	Fusion Gene Summary
	Fusion Gene Sample Information
	Fusion ORF Analysis
	Fusion Amino Acid Sequences
	Fusion Protein Functional Features
	Fusion Protein-Protein Interaction
	Related drugs with this fusion protein
	Related disease with this fusion protein

Fusion Protein:ADD3-VIL1

Fusion Protein Summary

Fusion gene summary

Fusion partner gene information	Fusion gene name: ADD3-VIL1
	FusionPDB ID: 2315
	FusionGDB2.0 ID: 2315
		Hgene	Tgene
	Gene symbol	ADD3	VIL1
	Gene ID	120	7429
	Gene name	adducin 3	villin 1
	Synonyms	ADDL\|CPSQ3	D2S1471\|VIL
	Cytomap	10q25.1-q25.2	2q35
	Type of gene	protein-coding	protein-coding
	Description	gamma-adducinadducin 3 (gamma)adducin-like protein 70	villin-1
	Modification date	20200313	20200313
	UniProtAcc	Q9UEY8	.
Ensembl transtripts involved in fusion gene	ENST ids	ENST00000497125, ENST00000277900, ENST00000356080, ENST00000360162,	ENST00000248444, ENST00000392114, ENST00000440053,
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)	* DoF score	13 X 10 X 5=650	3 X 4 X 3=36
	# samples	14	4
	** MAII score	log2(14/650*10)=-2.21501289097085 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(4/36*10)=0.15200309344505 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0
Context (manual curation of fusion genes in FusionPDB)	PubMed: ADD3 [Title/Abstract] AND VIL1 [Title/Abstract] AND fusion [Title/Abstract]
Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)	ADD3(111877180)-VIL1(219305444), # samples:1
Anticipated loss of major functional domain due to fusion event.	ADD3-VIL1 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. ADD3-VIL1 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. ADD3-VIL1 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. ADD3-VIL1 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)

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	VIL1	GO:0007173	epidermal growth factor receptor signaling pathway	17229814
Tgene	VIL1	GO:0008360	regulation of cell shape	16921170
Tgene	VIL1	GO:0009617	response to bacterium	17182858
Tgene	VIL1	GO:0010634	positive regulation of epithelial cell migration	17229814
Tgene	VIL1	GO:0030041	actin filament polymerization	11500485
Tgene	VIL1	GO:0030042	actin filament depolymerization	11500485
Tgene	VIL1	GO:0030335	positive regulation of cell migration	16921170
Tgene	VIL1	GO:0032233	positive regulation of actin filament bundle assembly	19808673
Tgene	VIL1	GO:0051014	actin filament severing	16921170\|17182858\|19808673
Tgene	VIL1	GO:0051125	regulation of actin nucleation	16921170\|17182858\|19808673
Tgene	VIL1	GO:0051693	actin filament capping	16921170\|17182858\|19808673
Tgene	VIL1	GO:0060327	cytoplasmic actin-based contraction involved in cell motility	15342783
Tgene	VIL1	GO:0071364	cellular response to epidermal growth factor stimulus	17229814

Fusion gene breakpoints across ADD3 (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 VIL1 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

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Fusion Gene Sample Information

Fusion gene information from FusionGDB2.0.

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	STAD	TCGA-HU-8604	ADD3	chr10	111877180	+	VIL1	chr2	219305444	+

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Fusion ORF Analysis

Fusion information from ORFfinder translation from full-length transcript sequence from FusionPDB.

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)
ENST00000360162	ADD3	chr10	111877180	+	ENST00000248444	VIL1	chr2	219305444	+	5158	944	377	1198	273
ENST00000360162	ADD3	chr10	111877180	+	ENST00000392114	VIL1	chr2	219305444	+	1387	944	377	1198	273
ENST00000356080	ADD3	chr10	111877180	+	ENST00000248444	VIL1	chr2	219305444	+	5148	934	367	1188	273
ENST00000356080	ADD3	chr10	111877180	+	ENST00000392114	VIL1	chr2	219305444	+	1377	934	367	1188	273
ENST00000277900	ADD3	chr10	111877180	+	ENST00000248444	VIL1	chr2	219305444	+	5146	932	365	1186	273
ENST00000277900	ADD3	chr10	111877180	+	ENST00000392114	VIL1	chr2	219305444	+	1375	932	365	1186	273

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
ENST00000360162	ENST00000248444	ADD3	chr10	111877180	+	VIL1	chr2	219305444	+	0.000671421	0.9993286
ENST00000360162	ENST00000392114	ADD3	chr10	111877180	+	VIL1	chr2	219305444	+	0.002248344	0.99775165
ENST00000356080	ENST00000248444	ADD3	chr10	111877180	+	VIL1	chr2	219305444	+	0.000735743	0.9992643
ENST00000356080	ENST00000392114	ADD3	chr10	111877180	+	VIL1	chr2	219305444	+	0.003640755	0.9963593
ENST00000277900	ENST00000248444	ADD3	chr10	111877180	+	VIL1	chr2	219305444	+	0.000737432	0.9992625
ENST00000277900	ENST00000392114	ADD3	chr10	111877180	+	VIL1	chr2	219305444	+	0.003864795	0.99613523

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Fusion Amino Acid Sequences

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

>2315_2315_1_ADD3-VIL1_ADD3_chr10_111877180_ENST00000277900_VIL1_chr2_219305444_ENST00000248444_length(amino acids)=273AA_BP=189
MSSDASQGVITTPPPPSMPHKERYFDRINENDPEYIRERNMSPDLRQDFNMMEQRKRVTQILQSPAFREDLECLIQEQMKKGHNPTGLLA
LQQIADYIMANSFSGFSSPPLSLGMVTPINDLPGADTSSYVKGEKLTRCKLASLYRLVDLFGWAHLANTYISVRISKEQDHIIIIPRGLS
FSEATASNLEVTSPKVDVFNANSNLSSGPLPIFPLEQLVNKPVEELPEGVDPSRKEEHLSIEDFTQAFGMTPAAFSALPRWKQQNLKKEK

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

>2315_2315_2_ADD3-VIL1_ADD3_chr10_111877180_ENST00000277900_VIL1_chr2_219305444_ENST00000392114_length(amino acids)=273AA_BP=189
MSSDASQGVITTPPPPSMPHKERYFDRINENDPEYIRERNMSPDLRQDFNMMEQRKRVTQILQSPAFREDLECLIQEQMKKGHNPTGLLA
LQQIADYIMANSFSGFSSPPLSLGMVTPINDLPGADTSSYVKGEKLTRCKLASLYRLVDLFGWAHLANTYISVRISKEQDHIIIIPRGLS
FSEATASNLEVTSPKVDVFNANSNLSSGPLPIFPLEQLVNKPVEELPEGVDPSRKEEHLSIEDFTQAFGMTPAAFSALPRWKQQNLKKEK

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

>2315_2315_3_ADD3-VIL1_ADD3_chr10_111877180_ENST00000356080_VIL1_chr2_219305444_ENST00000248444_length(amino acids)=273AA_BP=189
MSSDASQGVITTPPPPSMPHKERYFDRINENDPEYIRERNMSPDLRQDFNMMEQRKRVTQILQSPAFREDLECLIQEQMKKGHNPTGLLA
LQQIADYIMANSFSGFSSPPLSLGMVTPINDLPGADTSSYVKGEKLTRCKLASLYRLVDLFGWAHLANTYISVRISKEQDHIIIIPRGLS
FSEATASNLEVTSPKVDVFNANSNLSSGPLPIFPLEQLVNKPVEELPEGVDPSRKEEHLSIEDFTQAFGMTPAAFSALPRWKQQNLKKEK

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

>2315_2315_4_ADD3-VIL1_ADD3_chr10_111877180_ENST00000356080_VIL1_chr2_219305444_ENST00000392114_length(amino acids)=273AA_BP=189
MSSDASQGVITTPPPPSMPHKERYFDRINENDPEYIRERNMSPDLRQDFNMMEQRKRVTQILQSPAFREDLECLIQEQMKKGHNPTGLLA
LQQIADYIMANSFSGFSSPPLSLGMVTPINDLPGADTSSYVKGEKLTRCKLASLYRLVDLFGWAHLANTYISVRISKEQDHIIIIPRGLS
FSEATASNLEVTSPKVDVFNANSNLSSGPLPIFPLEQLVNKPVEELPEGVDPSRKEEHLSIEDFTQAFGMTPAAFSALPRWKQQNLKKEK

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

>2315_2315_5_ADD3-VIL1_ADD3_chr10_111877180_ENST00000360162_VIL1_chr2_219305444_ENST00000248444_length(amino acids)=273AA_BP=189
MSSDASQGVITTPPPPSMPHKERYFDRINENDPEYIRERNMSPDLRQDFNMMEQRKRVTQILQSPAFREDLECLIQEQMKKGHNPTGLLA
LQQIADYIMANSFSGFSSPPLSLGMVTPINDLPGADTSSYVKGEKLTRCKLASLYRLVDLFGWAHLANTYISVRISKEQDHIIIIPRGLS
FSEATASNLEVTSPKVDVFNANSNLSSGPLPIFPLEQLVNKPVEELPEGVDPSRKEEHLSIEDFTQAFGMTPAAFSALPRWKQQNLKKEK

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

>2315_2315_6_ADD3-VIL1_ADD3_chr10_111877180_ENST00000360162_VIL1_chr2_219305444_ENST00000392114_length(amino acids)=273AA_BP=189
MSSDASQGVITTPPPPSMPHKERYFDRINENDPEYIRERNMSPDLRQDFNMMEQRKRVTQILQSPAFREDLECLIQEQMKKGHNPTGLLA
LQQIADYIMANSFSGFSSPPLSLGMVTPINDLPGADTSSYVKGEKLTRCKLASLYRLVDLFGWAHLANTYISVRISKEQDHIIIIPRGLS
FSEATASNLEVTSPKVDVFNANSNLSSGPLPIFPLEQLVNKPVEELPEGVDPSRKEEHLSIEDFTQAFGMTPAAFSALPRWKQQNLKKEK

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

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Fusion Protein Functional Features

Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr10:111877180/chr2:219305444)
- 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
ADD3 Q9UEY8	.
FUNCTION: Membrane-cytoskeleton-associated protein that promotes the assembly of the spectrin-actin network. Plays a role in actin filament capping (PubMed:23836506). Binds to calmodulin. {ECO:0000269\|PubMed:23836506}.	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.

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.

- 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

Tgene

VIL1

chr10:111877180

chr2:219305444

ENST00000248444

761_827

743.0

828.0

Domain

Tgene

VIL1

chr10:111877180

chr2:219305444

ENST00000248444

816_824

743.0

828.0

Region

Note=LPA/PIP2-binding site 3

- 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

Tgene

VIL1

chr10:111877180

chr2:219305444

ENST00000248444

112_119

743.0

828.0

Region

Note=LPA/PIP2-binding site 1

Tgene

VIL1

chr10:111877180

chr2:219305444

ENST00000248444

138_146

743.0

828.0

Region

Note=LPA/PIP2-binding site 2

Tgene

VIL1

chr10:111877180

chr2:219305444

ENST00000248444

2_126

743.0

828.0

Region

Note=Necessary for homodimerization

Tgene

VIL1

chr10:111877180

chr2:219305444

ENST00000248444

2_734

743.0

828.0

Region

Note=Core

Tgene

VIL1

chr10:111877180

chr2:219305444

ENST00000248444

735_827

743.0

828.0

Region

Note=Headpiece

Tgene

VIL1

chr10:111877180

chr2:219305444

ENST00000248444

148_188

743.0

828.0

Repeat

Note=Gelsolin-like 2

Tgene

VIL1

chr10:111877180

chr2:219305444

ENST00000248444

265_309

743.0

828.0

Repeat

Note=Gelsolin-like 3

Tgene

VIL1

chr10:111877180

chr2:219305444

ENST00000248444

27_76

743.0

828.0

Repeat

Note=Gelsolin-like 1

Tgene

VIL1

chr10:111877180

chr2:219305444

ENST00000248444

407_457

743.0

828.0

Repeat

Note=Gelsolin-like 4

Tgene

VIL1

chr10:111877180

chr2:219305444

ENST00000248444

528_568

743.0

828.0

Repeat

Note=Gelsolin-like 5

Tgene

VIL1

chr10:111877180

chr2:219305444

ENST00000248444

631_672

743.0

828.0

Repeat

Note=Gelsolin-like 6

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Fusion Protein-Protein Interaction

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 from validated records (BIOGRID-3.4.160)

Gene

PPI interactors

Protein-protein interactors based on sequence similarity (STRING)

Gene	STRING network
ADD3
VIL1

- Retained interactions in fusion protein (protein functional feature from UniProt).

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Still interaction with

- Lost interactions due to fusion (protein functional feature from UniProt).

Partner	Gene	Hbp	Tbp	ENST	Strand	BPexon	TotalExon	Protein feature loci	*BPloci	TotalLen	Interaction lost with
Hgene	ADD3	chr10:111877180	chr2:219305444	ENST00000277900	+	5	14	684_701	189.0	675.0	calmodulin
Hgene	ADD3	chr10:111877180	chr2:219305444	ENST00000356080	+	5	15	684_701	189.0	707.0	calmodulin
Hgene	ADD3	chr10:111877180	chr2:219305444	ENST00000360162	+	5	14	684_701	189.0	675.0	calmodulin

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Related Drugs to ADD3-VIL1

Drugs used for this fusion-positive patient.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)

Hgene

Tgene

Drug

Source

PMID

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Related Diseases to ADD3-VIL1

Diseases that have this fusion gene.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)

Hgene

Tgene

Disease

Source

PMID

Diseases associated with fusion partners.
(DisGeNet 4.0)

Partner	Gene	Disease ID	Disease name	# pubmeds	Source
Hgene	ADD3	C0005586	Bipolar Disorder	1	CTD_human
Hgene	ADD3	C0005587	Depression, Bipolar	1	CTD_human
Hgene	ADD3	C0007786	Brain Ischemia	1	CTD_human
Hgene	ADD3	C0023893	Liver Cirrhosis, Experimental	1	CTD_human
Hgene	ADD3	C0024713	Manic Disorder	1	CTD_human
Hgene	ADD3	C0149504	Encephalopathy, Toxic	1	CTD_human
Hgene	ADD3	C0154659	Toxic Encephalitis	1	CTD_human
Hgene	ADD3	C0235032	Neurotoxicity Syndromes	1	CTD_human
Hgene	ADD3	C0338831	Manic	1	CTD_human
Hgene	ADD3	C0917798	Cerebral Ischemia	1	CTD_human
Hgene	ADD3	C2751938	Cerebral Palsy, Spastic Quadriplegic, 1	1	ORPHANET
Hgene	ADD3	C4310767	CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 3	1	CTD_human;GENOMICS_ENGLAND;UNIPROT