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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:CAP1-MACF1 (FusionGDB2 ID:12815)

Fusion Gene Summary for CAP1-MACF1

Fusion gene summary

Fusion gene information	Fusion gene name: CAP1-MACF1
	Fusion gene ID: 12815
		Hgene	Tgene
	Gene symbol	CAP1	MACF1
	Gene ID	10487	23499
	Gene name	cyclase associated actin cytoskeleton regulatory protein 1	microtubule actin crosslinking factor 1
	Synonyms	CAP\|CAP1-PEN	ABP620\|ACF7\|LIS9\|MACF\|OFC4
	Cytomap	1p34.2	1p34.3
	Type of gene	protein-coding	protein-coding
	Description	adenylyl cyclase-associated protein 1CAP, adenylate cyclase-associated protein 1adenylate cyclase associated protein 1testis secretory sperm-binding protein Li 218p	microtubule-actin cross-linking factor 1620 kDa actin binding proteinactin cross-linking family protein 7macrophin 1 isoformtrabeculin-alpha
	Modification date	20200313	20200313
	UniProtAcc	Q01518	Q9UPN3
	Ensembl transtripts involved in fusion gene	ENST00000340450, ENST00000372792, ENST00000372798, ENST00000372805, ENST00000372797, ENST00000372802, ENST00000479759,	ENST00000289893, ENST00000317713, ENST00000361689, ENST00000372915, ENST00000539005, ENST00000545844, ENST00000564288, ENST00000567887, ENST00000476350, ENST00000484793, ENST00000536367, ENST00000602421,
Fusion gene scores	* DoF score	16 X 13 X 7=1456	24 X 23 X 9=4968
	# samples	19	24
	** MAII score	log2(19/1456*10)=-2.93793903186775 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(24/4968*10)=-4.37155886261196 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0
Context	PubMed: CAP1 [Title/Abstract] AND MACF1 [Title/Abstract] AND fusion [Title/Abstract]
Most frequent breakpoint	CAP1(40506473)-MACF1(39934287), # 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
Tgene	MACF1	GO:0030334	regulation of cell migration	27693509
Tgene	MACF1	GO:0043001	Golgi to plasma membrane protein transport	15265687
Tgene	MACF1	GO:0045773	positive regulation of axon extension	22705394
Tgene	MACF1	GO:0051893	regulation of focal adhesion assembly	27693509

Fusion gene breakpoints across CAP1 (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 MACF1 (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	SKCM	TCGA-FS-A1ZC-06A	CAP1	chr1	40506473	-	MACF1	chr1	39934287	+
ChimerDB4	SKCM	TCGA-FS-A1ZC-06A	CAP1	chr1	40506473	+	MACF1	chr1	39934287	+

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Fusion Gene ORF analysis for CAP1-MACF1

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	ENST00000340450	ENST00000289893	CAP1	chr1	40506473	+	MACF1	chr1	39934287	+
5UTR-3CDS	ENST00000340450	ENST00000317713	CAP1	chr1	40506473	+	MACF1	chr1	39934287	+
5UTR-3CDS	ENST00000340450	ENST00000361689	CAP1	chr1	40506473	+	MACF1	chr1	39934287	+
5UTR-3CDS	ENST00000340450	ENST00000372915	CAP1	chr1	40506473	+	MACF1	chr1	39934287	+
5UTR-3CDS	ENST00000340450	ENST00000539005	CAP1	chr1	40506473	+	MACF1	chr1	39934287	+
5UTR-3CDS	ENST00000340450	ENST00000545844	CAP1	chr1	40506473	+	MACF1	chr1	39934287	+
5UTR-3CDS	ENST00000340450	ENST00000564288	CAP1	chr1	40506473	+	MACF1	chr1	39934287	+
5UTR-3CDS	ENST00000340450	ENST00000567887	CAP1	chr1	40506473	+	MACF1	chr1	39934287	+
5UTR-3CDS	ENST00000372792	ENST00000289893	CAP1	chr1	40506473	+	MACF1	chr1	39934287	+
5UTR-3CDS	ENST00000372792	ENST00000317713	CAP1	chr1	40506473	+	MACF1	chr1	39934287	+
5UTR-3CDS	ENST00000372792	ENST00000361689	CAP1	chr1	40506473	+	MACF1	chr1	39934287	+
5UTR-3CDS	ENST00000372792	ENST00000372915	CAP1	chr1	40506473	+	MACF1	chr1	39934287	+
5UTR-3CDS	ENST00000372792	ENST00000539005	CAP1	chr1	40506473	+	MACF1	chr1	39934287	+
5UTR-3CDS	ENST00000372792	ENST00000545844	CAP1	chr1	40506473	+	MACF1	chr1	39934287	+
5UTR-3CDS	ENST00000372792	ENST00000564288	CAP1	chr1	40506473	+	MACF1	chr1	39934287	+
5UTR-3CDS	ENST00000372792	ENST00000567887	CAP1	chr1	40506473	+	MACF1	chr1	39934287	+
5UTR-3CDS	ENST00000372798	ENST00000289893	CAP1	chr1	40506473	+	MACF1	chr1	39934287	+
5UTR-3CDS	ENST00000372798	ENST00000317713	CAP1	chr1	40506473	+	MACF1	chr1	39934287	+
5UTR-3CDS	ENST00000372798	ENST00000361689	CAP1	chr1	40506473	+	MACF1	chr1	39934287	+
5UTR-3CDS	ENST00000372798	ENST00000372915	CAP1	chr1	40506473	+	MACF1	chr1	39934287	+
5UTR-3CDS	ENST00000372798	ENST00000539005	CAP1	chr1	40506473	+	MACF1	chr1	39934287	+
5UTR-3CDS	ENST00000372798	ENST00000545844	CAP1	chr1	40506473	+	MACF1	chr1	39934287	+
5UTR-3CDS	ENST00000372798	ENST00000564288	CAP1	chr1	40506473	+	MACF1	chr1	39934287	+
5UTR-3CDS	ENST00000372798	ENST00000567887	CAP1	chr1	40506473	+	MACF1	chr1	39934287	+
5UTR-3CDS	ENST00000372805	ENST00000289893	CAP1	chr1	40506473	+	MACF1	chr1	39934287	+
5UTR-3CDS	ENST00000372805	ENST00000317713	CAP1	chr1	40506473	+	MACF1	chr1	39934287	+
5UTR-3CDS	ENST00000372805	ENST00000361689	CAP1	chr1	40506473	+	MACF1	chr1	39934287	+
5UTR-3CDS	ENST00000372805	ENST00000372915	CAP1	chr1	40506473	+	MACF1	chr1	39934287	+
5UTR-3CDS	ENST00000372805	ENST00000539005	CAP1	chr1	40506473	+	MACF1	chr1	39934287	+
5UTR-3CDS	ENST00000372805	ENST00000545844	CAP1	chr1	40506473	+	MACF1	chr1	39934287	+
5UTR-3CDS	ENST00000372805	ENST00000564288	CAP1	chr1	40506473	+	MACF1	chr1	39934287	+
5UTR-3CDS	ENST00000372805	ENST00000567887	CAP1	chr1	40506473	+	MACF1	chr1	39934287	+
5UTR-intron	ENST00000340450	ENST00000476350	CAP1	chr1	40506473	+	MACF1	chr1	39934287	+
5UTR-intron	ENST00000340450	ENST00000484793	CAP1	chr1	40506473	+	MACF1	chr1	39934287	+
5UTR-intron	ENST00000340450	ENST00000536367	CAP1	chr1	40506473	+	MACF1	chr1	39934287	+
5UTR-intron	ENST00000340450	ENST00000602421	CAP1	chr1	40506473	+	MACF1	chr1	39934287	+
5UTR-intron	ENST00000372792	ENST00000476350	CAP1	chr1	40506473	+	MACF1	chr1	39934287	+
5UTR-intron	ENST00000372792	ENST00000484793	CAP1	chr1	40506473	+	MACF1	chr1	39934287	+
5UTR-intron	ENST00000372792	ENST00000536367	CAP1	chr1	40506473	+	MACF1	chr1	39934287	+
5UTR-intron	ENST00000372792	ENST00000602421	CAP1	chr1	40506473	+	MACF1	chr1	39934287	+
5UTR-intron	ENST00000372798	ENST00000476350	CAP1	chr1	40506473	+	MACF1	chr1	39934287	+
5UTR-intron	ENST00000372798	ENST00000484793	CAP1	chr1	40506473	+	MACF1	chr1	39934287	+
5UTR-intron	ENST00000372798	ENST00000536367	CAP1	chr1	40506473	+	MACF1	chr1	39934287	+
5UTR-intron	ENST00000372798	ENST00000602421	CAP1	chr1	40506473	+	MACF1	chr1	39934287	+
5UTR-intron	ENST00000372805	ENST00000476350	CAP1	chr1	40506473	+	MACF1	chr1	39934287	+
5UTR-intron	ENST00000372805	ENST00000484793	CAP1	chr1	40506473	+	MACF1	chr1	39934287	+
5UTR-intron	ENST00000372805	ENST00000536367	CAP1	chr1	40506473	+	MACF1	chr1	39934287	+
5UTR-intron	ENST00000372805	ENST00000602421	CAP1	chr1	40506473	+	MACF1	chr1	39934287	+
intron-3CDS	ENST00000372797	ENST00000289893	CAP1	chr1	40506473	+	MACF1	chr1	39934287	+
intron-3CDS	ENST00000372797	ENST00000317713	CAP1	chr1	40506473	+	MACF1	chr1	39934287	+
intron-3CDS	ENST00000372797	ENST00000361689	CAP1	chr1	40506473	+	MACF1	chr1	39934287	+
intron-3CDS	ENST00000372797	ENST00000372915	CAP1	chr1	40506473	+	MACF1	chr1	39934287	+
intron-3CDS	ENST00000372797	ENST00000539005	CAP1	chr1	40506473	+	MACF1	chr1	39934287	+
intron-3CDS	ENST00000372797	ENST00000545844	CAP1	chr1	40506473	+	MACF1	chr1	39934287	+
intron-3CDS	ENST00000372797	ENST00000564288	CAP1	chr1	40506473	+	MACF1	chr1	39934287	+
intron-3CDS	ENST00000372797	ENST00000567887	CAP1	chr1	40506473	+	MACF1	chr1	39934287	+
intron-3CDS	ENST00000372802	ENST00000289893	CAP1	chr1	40506473	+	MACF1	chr1	39934287	+
intron-3CDS	ENST00000372802	ENST00000317713	CAP1	chr1	40506473	+	MACF1	chr1	39934287	+
intron-3CDS	ENST00000372802	ENST00000361689	CAP1	chr1	40506473	+	MACF1	chr1	39934287	+
intron-3CDS	ENST00000372802	ENST00000372915	CAP1	chr1	40506473	+	MACF1	chr1	39934287	+
intron-3CDS	ENST00000372802	ENST00000539005	CAP1	chr1	40506473	+	MACF1	chr1	39934287	+
intron-3CDS	ENST00000372802	ENST00000545844	CAP1	chr1	40506473	+	MACF1	chr1	39934287	+
intron-3CDS	ENST00000372802	ENST00000564288	CAP1	chr1	40506473	+	MACF1	chr1	39934287	+
intron-3CDS	ENST00000372802	ENST00000567887	CAP1	chr1	40506473	+	MACF1	chr1	39934287	+
intron-3CDS	ENST00000479759	ENST00000289893	CAP1	chr1	40506473	+	MACF1	chr1	39934287	+
intron-3CDS	ENST00000479759	ENST00000317713	CAP1	chr1	40506473	+	MACF1	chr1	39934287	+
intron-3CDS	ENST00000479759	ENST00000361689	CAP1	chr1	40506473	+	MACF1	chr1	39934287	+
intron-3CDS	ENST00000479759	ENST00000372915	CAP1	chr1	40506473	+	MACF1	chr1	39934287	+
intron-3CDS	ENST00000479759	ENST00000539005	CAP1	chr1	40506473	+	MACF1	chr1	39934287	+
intron-3CDS	ENST00000479759	ENST00000545844	CAP1	chr1	40506473	+	MACF1	chr1	39934287	+
intron-3CDS	ENST00000479759	ENST00000564288	CAP1	chr1	40506473	+	MACF1	chr1	39934287	+
intron-3CDS	ENST00000479759	ENST00000567887	CAP1	chr1	40506473	+	MACF1	chr1	39934287	+
intron-intron	ENST00000372797	ENST00000476350	CAP1	chr1	40506473	+	MACF1	chr1	39934287	+
intron-intron	ENST00000372797	ENST00000484793	CAP1	chr1	40506473	+	MACF1	chr1	39934287	+
intron-intron	ENST00000372797	ENST00000536367	CAP1	chr1	40506473	+	MACF1	chr1	39934287	+
intron-intron	ENST00000372797	ENST00000602421	CAP1	chr1	40506473	+	MACF1	chr1	39934287	+
intron-intron	ENST00000372802	ENST00000476350	CAP1	chr1	40506473	+	MACF1	chr1	39934287	+
intron-intron	ENST00000372802	ENST00000484793	CAP1	chr1	40506473	+	MACF1	chr1	39934287	+
intron-intron	ENST00000372802	ENST00000536367	CAP1	chr1	40506473	+	MACF1	chr1	39934287	+
intron-intron	ENST00000372802	ENST00000602421	CAP1	chr1	40506473	+	MACF1	chr1	39934287	+
intron-intron	ENST00000479759	ENST00000476350	CAP1	chr1	40506473	+	MACF1	chr1	39934287	+
intron-intron	ENST00000479759	ENST00000484793	CAP1	chr1	40506473	+	MACF1	chr1	39934287	+
intron-intron	ENST00000479759	ENST00000536367	CAP1	chr1	40506473	+	MACF1	chr1	39934287	+
intron-intron	ENST00000479759	ENST00000602421	CAP1	chr1	40506473	+	MACF1	chr1	39934287	+

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 CAP1-MACF1

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)
CAP1	chr1	40506473	+	MACF1	chr1	39934286	+	1.51E-06	0.99999845
CAP1	chr1	40506473	+	MACF1	chr1	39934286	+	1.51E-06	0.99999845

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 CAP1-MACF1

Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:40506473/:39934287)
- 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
CAP1 Q01518	MACF1 Q9UPN3
FUNCTION: Directly regulates filament dynamics and has been implicated in a number of complex developmental and morphological processes, including mRNA localization and the establishment of cell polarity.	FUNCTION: [Isoform 2]: F-actin-binding protein which plays a role in cross-linking actin to other cytoskeletal proteins and also binds to microtubules (PubMed:15265687, PubMed:20937854). Plays an important role in ERBB2-dependent stabilization of microtubules at the cell cortex (PubMed:20937854). Acts as a positive regulator of Wnt receptor signaling pathway and is involved in the translocation of AXIN1 and its associated complex (composed of APC, CTNNB1 and GSK3B) from the cytoplasm to the cell membrane (By similarity). Has actin-regulated ATPase activity and is essential for controlling focal adhesions (FAs) assembly and dynamics (By similarity). Interaction with CAMSAP3 at the minus ends of non-centrosomal microtubules tethers microtubules minus-ends to actin filaments, regulating focal adhesion size and cell migration (PubMed:27693509). May play role in delivery of transport vesicles containing GPI-linked proteins from the trans-Golgi network through its interaction with GOLGA4 (PubMed:15265687). Plays a key role in wound healing and epidermal cell migration (By similarity). Required for efficient upward migration of bulge cells in response to wounding and this function is primarily rooted in its ability to coordinate microtubule dynamics and polarize hair follicle stem cells (By similarity). As a regulator of actin and microtubule arrangement and stabilization, it plays an essential role in neurite outgrowth, branching and spine formation during brain development (By similarity). {ECO:0000250\|UniProtKB:Q9QXZ0, ECO:0000269\|PubMed:15265687, ECO:0000269\|PubMed:20937854, ECO:0000269\|PubMed:27693509}.

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 CAP1-MACF1

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 CAP1-MACF1

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 CAP1-MACF1

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 CAP1-MACF1

Diseases associated with fusion partners.
(DisGeNet 4.0)

Partner

Gene

Disease ID

Disease name

# pubmeds

Source