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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:ACAP3-DVL1 (FusionGDB2 ID:1356)

Fusion Gene Summary for ACAP3-DVL1

Fusion gene summary

Fusion gene information	Fusion gene name: ACAP3-DVL1
	Fusion gene ID: 1356
		Hgene	Tgene
	Gene symbol	ACAP3	DVL1
	Gene ID	116983	1855
	Gene name	ArfGAP with coiled-coil, ankyrin repeat and PH domains 3	dishevelled segment polarity protein 1
	Synonyms	CENTB5	DRS2\|DVL\|DVL1L1\|DVL1P1
	Cytomap	1p36.33	1p36.33
	Type of gene	protein-coding	protein-coding
	Description	arf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 3centaurin-beta-5cnt-b5	segment polarity protein dishevelled homolog DVL-1DSH homolog 1dishevelled 1 (homologous to Drosophila dsh)dishevelled, dsh homolog 1dishevelled-1
	Modification date	20200313	20200313
	UniProtAcc	Q96P50	P54792
	Ensembl transtripts involved in fusion gene	ENST00000354700, ENST00000353662, ENST00000379037,	ENST00000378891, ENST00000378888,
Fusion gene scores	* DoF score	5 X 7 X 7=245	3 X 1 X 4=12
	# samples	8	4
	** MAII score	log2(8/245*10)=-1.61470984411521 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(4/12*10)=1.73696559416621 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0
Context	PubMed: ACAP3 [Title/Abstract] AND DVL1 [Title/Abstract] AND fusion [Title/Abstract]
Most frequent breakpoint	ACAP3(1243149)-DVL1(1278138), # samples:5
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	DVL1	GO:0006366	transcription by RNA polymerase II	11742073
Tgene	DVL1	GO:0006469	negative regulation of protein kinase activity	10330181
Tgene	DVL1	GO:0032091	negative regulation of protein binding	19643732
Tgene	DVL1	GO:0045893	positive regulation of transcription, DNA-templated	12805222\|17593335
Tgene	DVL1	GO:0050821	protein stabilization	19625296
Tgene	DVL1	GO:0060070	canonical Wnt signaling pathway	11113207\|12556519\|14747478\|17593335
Tgene	DVL1	GO:0060071	Wnt signaling pathway, planar cell polarity pathway	12805222
Tgene	DVL1	GO:1903827	regulation of cellular protein localization	19625296

Fusion gene breakpoints across ACAP3 (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 DVL1 (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	GBM	TCGA-76-4926-01B	ACAP3	chr1	1243149	-	DVL1	chr1	1278138	-
ChimerDB4	LUSC	TCGA-96-A4JK-01A	ACAP3	chr1	1243149	-	DVL1	chr1	1278138	-
ChimerDB4	STAD	TCGA-BR-8289	ACAP3	chr1	1229469	-	DVL1	chr1	1278138	-
ChimerDB4	GBM	TCGA-76-4926-01B	ACAP3	chr1	1243149	-	DVL1	chr1	1278138	-
ChimerDB4	LUSC	TCGA-96-A4JK	ACAP3	chr1	1243149	-	DVL1	chr1	1278138	-
ChimerDB4	LUSC	TCGA-96-A4JK-01A	ACAP3	chr1	1243149	-	DVL1	chr1	1278138	-

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Fusion Gene ORF analysis for ACAP3-DVL1

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
Frame-shift	ENST00000354700	ENST00000378891	ACAP3	chr1	1243149	-	DVL1	chr1	1278138	-
Frame-shift	ENST00000354700	ENST00000378888	ACAP3	chr1	1243149	-	DVL1	chr1	1278138	-
5UTR-3CDS	ENST00000353662	ENST00000378891	ACAP3	chr1	1243149	-	DVL1	chr1	1278138	-
5UTR-3CDS	ENST00000353662	ENST00000378888	ACAP3	chr1	1243149	-	DVL1	chr1	1278138	-
intron-3CDS	ENST00000379037	ENST00000378891	ACAP3	chr1	1243149	-	DVL1	chr1	1278138	-
intron-3CDS	ENST00000379037	ENST00000378888	ACAP3	chr1	1243149	-	DVL1	chr1	1278138	-
In-frame	ENST00000354700	ENST00000378891	ACAP3	chr1	1229469	-	DVL1	chr1	1278138	-
In-frame	ENST00000354700	ENST00000378888	ACAP3	chr1	1229469	-	DVL1	chr1	1278138	-
Frame-shift	ENST00000353662	ENST00000378891	ACAP3	chr1	1229469	-	DVL1	chr1	1278138	-
Frame-shift	ENST00000353662	ENST00000378888	ACAP3	chr1	1229469	-	DVL1	chr1	1278138	-
intron-3CDS	ENST00000379037	ENST00000378891	ACAP3	chr1	1229469	-	DVL1	chr1	1278138	-
intron-3CDS	ENST00000379037	ENST00000378888	ACAP3	chr1	1229469	-	DVL1	chr1	1278138	-

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 ACAP3-DVL1

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 ACAP3-DVL1

Go to
FGviewer for the breakpoints of chr1:1229469-chr1:1278138
.
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.

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

Hgene	Tgene
ACAP3 Q96P50	DVL1 P54792
FUNCTION: GTPase-activating protein for the ADP ribosylation factor family. {ECO:0000305}.	FUNCTION: May play a role in the signal transduction pathway mediated by multiple Wnt 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.

- 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

Hgene

ACAP3

chr1:1229469

chr1:1278138

ENST00000353662

268_363

674.6666666666666

760.0

Domain

Hgene

ACAP3

chr1:1229469

chr1:1278138

ENST00000353662

403_525

674.6666666666666

760.0

Domain

Arf-GAP

Hgene

ACAP3

chr1:1229469

chr1:1278138

ENST00000354700

268_363

749.6666666666666

835.0

Domain

Hgene

ACAP3

chr1:1229469

chr1:1278138

ENST00000354700

403_525

749.6666666666666

835.0

Domain

Arf-GAP

Hgene

ACAP3

chr1:1229469

chr1:1278138

ENST00000354700

702_731

749.6666666666666

835.0

Repeat

Note=ANK 1

Hgene

ACAP3

chr1:1229469

chr1:1278138

ENST00000353662

418_441

674.6666666666666

760.0

Zinc finger

C4-type

Hgene

ACAP3

chr1:1229469

chr1:1278138

ENST00000354700

418_441

749.6666666666666

835.0

Zinc finger

C4-type

Tgene

DVL1

chr1:1229469

chr1:1278138

ENST00000378888

221_224

56.666666666666664

696.0

Compositional bias

Note=Poly-Arg

Tgene

DVL1

chr1:1229469

chr1:1278138

ENST00000378891

221_224

56.666666666666664

671.0

Compositional bias

Note=Poly-Arg

Tgene

DVL1

chr1:1229469

chr1:1278138

ENST00000378888

251_323

56.666666666666664

696.0

Domain

PDZ

Tgene

DVL1

chr1:1229469

chr1:1278138

ENST00000378888

425_499

56.666666666666664

696.0

Domain

DEP

Tgene

DVL1

chr1:1229469

chr1:1278138

ENST00000378891

251_323

56.666666666666664

671.0

Domain

PDZ

Tgene

DVL1

chr1:1229469

chr1:1278138

ENST00000378891

425_499

56.666666666666664

671.0

Domain

DEP

- 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

Hgene

ACAP3

chr1:1229469

chr1:1278138

ENST00000353662

702_731

674.6666666666666

760.0

Repeat

Note=ANK 1

Hgene

ACAP3

chr1:1229469

chr1:1278138

ENST00000353662

735_764

674.6666666666666

760.0

Repeat

Note=ANK 2

Hgene

ACAP3

chr1:1229469

chr1:1278138

ENST00000353662

768_797

674.6666666666666

760.0

Repeat

Note=ANK 3

Hgene

ACAP3

chr1:1229469

chr1:1278138

ENST00000354700

735_764

749.6666666666666

835.0

Repeat

Note=ANK 2

Hgene

ACAP3

chr1:1229469

chr1:1278138

ENST00000354700

768_797

749.6666666666666

835.0

Repeat

Note=ANK 3

Tgene

DVL1

chr1:1229469

chr1:1278138

ENST00000378888

1_85

56.666666666666664

696.0

Domain

DIX

Tgene

DVL1

chr1:1229469

chr1:1278138

ENST00000378891

1_85

56.666666666666664

671.0

Domain

DIX

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Fusion Gene Sequence for ACAP3-DVL1

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 ACAP3-DVL1

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 ACAP3-DVL1

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 ACAP3-DVL1

Diseases associated with fusion partners.
(DisGeNet 4.0)

Partner	Gene	Disease ID	Disease name	# pubmeds	Source
Tgene	DVL1	C4225363	ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2	2	GENOMICS_ENGLAND
Tgene	DVL1	C0265205	Robinow Syndrome	1	CTD_human;ORPHANET