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	Fusion Gene Summary
	Fusion Gene Sample Information
	Fusion ORF Analysis
	Fusion Amino Acid Sequences
	Fusion Protein Functional Features
	Fusion Protein Structure
	pLDDT scores
	Ramachandran Plot of Fusion Protein Structure
	Fusion Protein-Protein Interaction
	Related drugs with this fusion protein
	Related disease with this fusion protein

Fusion Protein:ACTN4-CAPZB

Fusion Protein Summary

Fusion gene summary

Fusion partner gene information	Fusion gene name: ACTN4-CAPZB
	FusionPDB ID: 1766
	FusionGDB2.0 ID: 1766
		Hgene	Tgene
	Gene symbol	ACTN4	CAPZB
	Gene ID	81	832
	Gene name	actinin alpha 4	capping actin protein of muscle Z-line subunit beta
	Synonyms	ACTININ-4\|FSGS\|FSGS1	CAPB\|CAPPB\|CAPZ
	Cytomap	19q13.2	1p36.13
	Type of gene	protein-coding	protein-coding
	Description	alpha-actinin-4focal segmental glomerulosclerosis 1non-muscle alpha-actinin 4	F-actin-capping protein subunit betacapZ betacapping actin protein of muscle Z-line beta subunitcapping protein (actin filament) muscle Z-line, betaepididymis secretory sperm binding protein
	Modification date	20200327	20200320
	UniProtAcc	O43707	P47756
Ensembl transtripts involved in fusion gene	ENST ids	ENST00000252699, ENST00000390009, ENST00000424234, ENST00000497637,	ENST00000375144, ENST00000482808, ENST00000264202, ENST00000264203, ENST00000375142, ENST00000401084, ENST00000433834,
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)	* DoF score	42 X 60 X 18=45360	23 X 15 X 8=2760
	# samples	77	27
	** MAII score	log2(77/45360*10)=-5.88041838424733 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(27/2760*10)=-3.3536369546147 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)	PubMed: ACTN4 [Title/Abstract] AND CAPZB [Title/Abstract] AND fusion [Title/Abstract]
Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)	ACTN4(39207956)-CAPZB(19712120), # samples:3
Anticipated loss of major functional domain due to fusion event.	ACTN4-CAPZB 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. ACTN4-CAPZB 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. ACTN4-CAPZB 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. ACTN4-CAPZB 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
Hgene	ACTN4	GO:0033209	tumor necrosis factor-mediated signaling pathway	25411248
Hgene	ACTN4	GO:0035357	peroxisome proliferator activated receptor signaling pathway	22351778
Hgene	ACTN4	GO:0048384	retinoic acid receptor signaling pathway	22351778
Hgene	ACTN4	GO:0051272	positive regulation of cellular component movement	9508771

Fusion gene breakpoints across ACTN4 (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 CAPZB (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	BRCA	TCGA-BH-A0B9-01A	ACTN4	chr19	39207956	-	CAPZB	chr1	19712120	-
ChimerDB4	BRCA	TCGA-BH-A0B9-01A	ACTN4	chr19	39207956	+	CAPZB	chr1	19712120	-
ChimerDB4	BRCA	TCGA-BH-A0B9	ACTN4	chr19	39207956	+	CAPZB	chr1	19712120	-

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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)
ENST00000252699	ACTN4	chr19	39207956	+	ENST00000401084	CAPZB	chr1	19712120	-	2702	1219	76	1944	622
ENST00000252699	ACTN4	chr19	39207956	+	ENST00000264203	CAPZB	chr1	19712120	-	2622	1219	76	1830	584
ENST00000252699	ACTN4	chr19	39207956	+	ENST00000375142	CAPZB	chr1	19712120	-	2765	1219	76	1959	627
ENST00000252699	ACTN4	chr19	39207956	+	ENST00000433834	CAPZB	chr1	19712120	-	2116	1219	76	1944	622
ENST00000252699	ACTN4	chr19	39207956	+	ENST00000264202	CAPZB	chr1	19712120	-	1960	1219	76	1959	628
ENST00000390009	ACTN4	chr19	39207956	+	ENST00000401084	CAPZB	chr1	19712120	-	1977	494	8	1219	403
ENST00000390009	ACTN4	chr19	39207956	+	ENST00000264203	CAPZB	chr1	19712120	-	1897	494	8	1105	365
ENST00000390009	ACTN4	chr19	39207956	+	ENST00000375142	CAPZB	chr1	19712120	-	2040	494	8	1234	408
ENST00000390009	ACTN4	chr19	39207956	+	ENST00000433834	CAPZB	chr1	19712120	-	1391	494	8	1219	403
ENST00000390009	ACTN4	chr19	39207956	+	ENST00000264202	CAPZB	chr1	19712120	-	1235	494	8	1234	409

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
ENST00000252699	ENST00000401084	ACTN4	chr19	39207956	+	CAPZB	chr1	19712120	-	0.006597708	0.9934023
ENST00000252699	ENST00000264203	ACTN4	chr19	39207956	+	CAPZB	chr1	19712120	-	0.007647275	0.9923528
ENST00000252699	ENST00000375142	ACTN4	chr19	39207956	+	CAPZB	chr1	19712120	-	0.007844832	0.99215513
ENST00000252699	ENST00000433834	ACTN4	chr19	39207956	+	CAPZB	chr1	19712120	-	0.01312612	0.9868739
ENST00000252699	ENST00000264202	ACTN4	chr19	39207956	+	CAPZB	chr1	19712120	-	0.013515247	0.9864848
ENST00000390009	ENST00000401084	ACTN4	chr19	39207956	+	CAPZB	chr1	19712120	-	0.002678354	0.99732167
ENST00000390009	ENST00000264203	ACTN4	chr19	39207956	+	CAPZB	chr1	19712120	-	0.003351532	0.9966485
ENST00000390009	ENST00000375142	ACTN4	chr19	39207956	+	CAPZB	chr1	19712120	-	0.002998222	0.9970017
ENST00000390009	ENST00000433834	ACTN4	chr19	39207956	+	CAPZB	chr1	19712120	-	0.004563642	0.9954364
ENST00000390009	ENST00000264202	ACTN4	chr19	39207956	+	CAPZB	chr1	19712120	-	0.004838985	0.995161

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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

>1766_1766_1_ACTN4-CAPZB_ACTN4_chr19_39207956_ENST00000252699_CAPZB_chr1_19712120_ENST00000264202_length(amino acids)=628AA_BP=381
MVDYHAANQSYQYGPSSAGNGAGGGGSMGDYMAQEDDWDRDLLLDPAWEKQQRKTFTAWCNSHLRKAGTQIENIDEDFRDGLKLMLLLEV
ISGERLPKPERGKMRVHKINNVNKALDFIASKGVKLVSIGAEEIVDGNAKMTLGMIWTIILRFAIQDISVEETSAKEGLLLWCQRKTAPY
KNVNVQNFHISWKDGLAFNALIHRHRPELIEYDKLRKDDPVTNLNNAFEVAEKYLDIPKMLDAEDIVNTARPDEKAIMTYVSSFYHAFSG
AQKAETAANRICKVLAVNQENEHLMEDYEKLASDLLEWIRRTIPWLEDRVPQKTIQEMQQKLEDFRDYRRVHKPPKVQEKCQLEINFNTL
QTKLRLSNRPAFMPSEGKMVSVPSLCEDLLSSVDQPLKIARDKVVGKDYLLCDYNRDGDSYRSPWSNKYDPPLEDGAMPSARLRKLEVEA
NNAFDQYRDLYFEGGVSSVYLWDLDHGFAGVILIKKAGDGSKKIKGCWDSIHVVEVQEKSSGRTAHYKLTSTVMLWLQTNKSGSGTMNLG

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

>1766_1766_2_ACTN4-CAPZB_ACTN4_chr19_39207956_ENST00000252699_CAPZB_chr1_19712120_ENST00000264203_length(amino acids)=584AA_BP=381
MVDYHAANQSYQYGPSSAGNGAGGGGSMGDYMAQEDDWDRDLLLDPAWEKQQRKTFTAWCNSHLRKAGTQIENIDEDFRDGLKLMLLLEV
ISGERLPKPERGKMRVHKINNVNKALDFIASKGVKLVSIGAEEIVDGNAKMTLGMIWTIILRFAIQDISVEETSAKEGLLLWCQRKTAPY
KNVNVQNFHISWKDGLAFNALIHRHRPELIEYDKLRKDDPVTNLNNAFEVAEKYLDIPKMLDAEDIVNTARPDEKAIMTYVSSFYHAFSG
AQKAETAANRICKVLAVNQENEHLMEDYEKLASDLLEWIRRTIPWLEDRVPQKTIQEMQQKLEDFRDYRRVHKPPKVQEKCQLEINFNTL
QTKLRLSNRPAFMPSEGKMVSVPSLCEDLLSSVDQPLKIARDKVVGKDYLLCDYNRDGDSYRSPWSNKYDPPLEDGAMPSARLRKLEVEA
NNAFDQYRDLYFEGGVSSVYLWDLDHGFAGVILIKKAGDGSKKIKGCWDSIHVVEVQEKSSGRTAHYKLTSTVMLWLQTNKSGSGTMNLG

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

>1766_1766_3_ACTN4-CAPZB_ACTN4_chr19_39207956_ENST00000252699_CAPZB_chr1_19712120_ENST00000375142_length(amino acids)=627AA_BP=381
MVDYHAANQSYQYGPSSAGNGAGGGGSMGDYMAQEDDWDRDLLLDPAWEKQQRKTFTAWCNSHLRKAGTQIENIDEDFRDGLKLMLLLEV
ISGERLPKPERGKMRVHKINNVNKALDFIASKGVKLVSIGAEEIVDGNAKMTLGMIWTIILRFAIQDISVEETSAKEGLLLWCQRKTAPY
KNVNVQNFHISWKDGLAFNALIHRHRPELIEYDKLRKDDPVTNLNNAFEVAEKYLDIPKMLDAEDIVNTARPDEKAIMTYVSSFYHAFSG
AQKAETAANRICKVLAVNQENEHLMEDYEKLASDLLEWIRRTIPWLEDRVPQKTIQEMQQKLEDFRDYRRVHKPPKVQEKCQLEINFNTL
QTKLRLSNRPAFMPSEGKMVSVPSLCEDLLSSVDQPLKIARDKVVGKDYLLCDYNRDGDSYRSPWSNKYDPPLEDGAMPSARLRKLEVEA
NNAFDQYRDLYFEGGVSSVYLWDLDHGFAGVILIKKAGDGSKKIKGCWDSIHVVEVQEKSSGRTAHYKLTSTVMLWLQTNKSGSGTMNLG

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

>1766_1766_4_ACTN4-CAPZB_ACTN4_chr19_39207956_ENST00000252699_CAPZB_chr1_19712120_ENST00000401084_length(amino acids)=622AA_BP=381
MVDYHAANQSYQYGPSSAGNGAGGGGSMGDYMAQEDDWDRDLLLDPAWEKQQRKTFTAWCNSHLRKAGTQIENIDEDFRDGLKLMLLLEV
ISGERLPKPERGKMRVHKINNVNKALDFIASKGVKLVSIGAEEIVDGNAKMTLGMIWTIILRFAIQDISVEETSAKEGLLLWCQRKTAPY
KNVNVQNFHISWKDGLAFNALIHRHRPELIEYDKLRKDDPVTNLNNAFEVAEKYLDIPKMLDAEDIVNTARPDEKAIMTYVSSFYHAFSG
AQKAETAANRICKVLAVNQENEHLMEDYEKLASDLLEWIRRTIPWLEDRVPQKTIQEMQQKLEDFRDYRRVHKPPKVQEKCQLEINFNTL
QTKLRLSNRPAFMPSEGKMVSVPSLCEDLLSSVDQPLKIARDKVVGKDYLLCDYNRDGDSYRSPWSNKYDPPLEDGAMPSARLRKLEVEA
NNAFDQYRDLYFEGGVSSVYLWDLDHGFAGVILIKKAGDGSKKIKGCWDSIHVVEVQEKSSGRTAHYKLTSTVMLWLQTNKSGSGTMNLG

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

>1766_1766_5_ACTN4-CAPZB_ACTN4_chr19_39207956_ENST00000252699_CAPZB_chr1_19712120_ENST00000433834_length(amino acids)=622AA_BP=381
MVDYHAANQSYQYGPSSAGNGAGGGGSMGDYMAQEDDWDRDLLLDPAWEKQQRKTFTAWCNSHLRKAGTQIENIDEDFRDGLKLMLLLEV
ISGERLPKPERGKMRVHKINNVNKALDFIASKGVKLVSIGAEEIVDGNAKMTLGMIWTIILRFAIQDISVEETSAKEGLLLWCQRKTAPY
KNVNVQNFHISWKDGLAFNALIHRHRPELIEYDKLRKDDPVTNLNNAFEVAEKYLDIPKMLDAEDIVNTARPDEKAIMTYVSSFYHAFSG
AQKAETAANRICKVLAVNQENEHLMEDYEKLASDLLEWIRRTIPWLEDRVPQKTIQEMQQKLEDFRDYRRVHKPPKVQEKCQLEINFNTL
QTKLRLSNRPAFMPSEGKMVSVPSLCEDLLSSVDQPLKIARDKVVGKDYLLCDYNRDGDSYRSPWSNKYDPPLEDGAMPSARLRKLEVEA
NNAFDQYRDLYFEGGVSSVYLWDLDHGFAGVILIKKAGDGSKKIKGCWDSIHVVEVQEKSSGRTAHYKLTSTVMLWLQTNKSGSGTMNLG

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

>1766_1766_6_ACTN4-CAPZB_ACTN4_chr19_39207956_ENST00000390009_CAPZB_chr1_19712120_ENST00000264202_length(amino acids)=409AA_BP=162
MVDYHAANQSYQYGPSSAGNGAGGGGSMGDYMAQEDDWDRDLLLDPAWEKQQRKAETAANRICKVLAVNQENEHLMEDYEKLASDLLEWI
RRTIPWLEDRVPQKTIQEMQQKLEDFRDYRRVHKPPKVQEKCQLEINFNTLQTKLRLSNRPAFMPSEGKMVSVPSLCEDLLSSVDQPLKI
ARDKVVGKDYLLCDYNRDGDSYRSPWSNKYDPPLEDGAMPSARLRKLEVEANNAFDQYRDLYFEGGVSSVYLWDLDHGFAGVILIKKAGD
GSKKIKGCWDSIHVVEVQEKSSGRTAHYKLTSTVMLWLQTNKSGSGTMNLGGSLTRQMEKDETVSDCSPHIANIGRLVEDMENKIRSTLN

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

>1766_1766_7_ACTN4-CAPZB_ACTN4_chr19_39207956_ENST00000390009_CAPZB_chr1_19712120_ENST00000264203_length(amino acids)=365AA_BP=162
MVDYHAANQSYQYGPSSAGNGAGGGGSMGDYMAQEDDWDRDLLLDPAWEKQQRKAETAANRICKVLAVNQENEHLMEDYEKLASDLLEWI
RRTIPWLEDRVPQKTIQEMQQKLEDFRDYRRVHKPPKVQEKCQLEINFNTLQTKLRLSNRPAFMPSEGKMVSVPSLCEDLLSSVDQPLKI
ARDKVVGKDYLLCDYNRDGDSYRSPWSNKYDPPLEDGAMPSARLRKLEVEANNAFDQYRDLYFEGGVSSVYLWDLDHGFAGVILIKKAGD
GSKKIKGCWDSIHVVEVQEKSSGRTAHYKLTSTVMLWLQTNKSGSGTMNLGGSLTRQMEKDETVSDCSPHIANIGRLVEVCADFCRQIKT

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

>1766_1766_8_ACTN4-CAPZB_ACTN4_chr19_39207956_ENST00000390009_CAPZB_chr1_19712120_ENST00000375142_length(amino acids)=408AA_BP=162
MVDYHAANQSYQYGPSSAGNGAGGGGSMGDYMAQEDDWDRDLLLDPAWEKQQRKAETAANRICKVLAVNQENEHLMEDYEKLASDLLEWI
RRTIPWLEDRVPQKTIQEMQQKLEDFRDYRRVHKPPKVQEKCQLEINFNTLQTKLRLSNRPAFMPSEGKMVSVPSLCEDLLSSVDQPLKI
ARDKVVGKDYLLCDYNRDGDSYRSPWSNKYDPPLEDGAMPSARLRKLEVEANNAFDQYRDLYFEGGVSSVYLWDLDHGFAGVILIKKAGD
GSKKIKGCWDSIHVVEVQEKSSGRTAHYKLTSTVMLWLQTNKSGSGTMNLGGSLTRQMEKDETVSDCSPHIANIGRLVEDMENKIRSTLN

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

>1766_1766_9_ACTN4-CAPZB_ACTN4_chr19_39207956_ENST00000390009_CAPZB_chr1_19712120_ENST00000401084_length(amino acids)=403AA_BP=162
MVDYHAANQSYQYGPSSAGNGAGGGGSMGDYMAQEDDWDRDLLLDPAWEKQQRKAETAANRICKVLAVNQENEHLMEDYEKLASDLLEWI
RRTIPWLEDRVPQKTIQEMQQKLEDFRDYRRVHKPPKVQEKCQLEINFNTLQTKLRLSNRPAFMPSEGKMVSVPSLCEDLLSSVDQPLKI
ARDKVVGKDYLLCDYNRDGDSYRSPWSNKYDPPLEDGAMPSARLRKLEVEANNAFDQYRDLYFEGGVSSVYLWDLDHGFAGVILIKKAGD
GSKKIKGCWDSIHVVEVQEKSSGRTAHYKLTSTVMLWLQTNKSGSGTMNLGGSLTRQMEKDETVSDCSPHIANIGRLVEDMENKIRSTLN

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

>1766_1766_10_ACTN4-CAPZB_ACTN4_chr19_39207956_ENST00000390009_CAPZB_chr1_19712120_ENST00000433834_length(amino acids)=403AA_BP=162
MVDYHAANQSYQYGPSSAGNGAGGGGSMGDYMAQEDDWDRDLLLDPAWEKQQRKAETAANRICKVLAVNQENEHLMEDYEKLASDLLEWI
RRTIPWLEDRVPQKTIQEMQQKLEDFRDYRRVHKPPKVQEKCQLEINFNTLQTKLRLSNRPAFMPSEGKMVSVPSLCEDLLSSVDQPLKI
ARDKVVGKDYLLCDYNRDGDSYRSPWSNKYDPPLEDGAMPSARLRKLEVEANNAFDQYRDLYFEGGVSSVYLWDLDHGFAGVILIKKAGD
GSKKIKGCWDSIHVVEVQEKSSGRTAHYKLTSTVMLWLQTNKSGSGTMNLGGSLTRQMEKDETVSDCSPHIANIGRLVEDMENKIRSTLN

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

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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/chr19:39207956/chr1:19712120)
- 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
ACTN4 O43707	CAPZB P47756
FUNCTION: F-actin cross-linking protein which is thought to anchor actin to a variety of intracellular structures. This is a bundling protein (Probable). Probably involved in vesicular trafficking via its association with the CART complex. The CART complex is necessary for efficient transferrin receptor recycling but not for EGFR degradation (PubMed:15772161). Involved in tight junction assembly in epithelial cells probably through interaction with MICALL2. Links MICALL2 to the actin cytoskeleton and recruits it to the tight junctions (By similarity). May also function as a transcriptional coactivator, stimulating transcription mediated by the nuclear hormone receptors PPARG and RARA (PubMed:22351778). {ECO:0000250\|UniProtKB:P57780, ECO:0000269\|PubMed:15772161, ECO:0000269\|PubMed:22351778, ECO:0000305\|PubMed:9508771}.	FUNCTION: F-actin-capping proteins bind in a Ca(2+)-independent manner to the fast growing ends of actin filaments (barbed end) thereby blocking the exchange of subunits at these ends. Unlike other capping proteins (such as gelsolin and severin), these proteins do not sever actin filaments. Plays a role in the regulation of cell morphology and cytoskeletal organization. {ECO:0000269\|PubMed:21834987}.

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

Hgene

ACTN4

chr19:39207956

chr1:19712120

ENST00000252699

19_26

381.0

912.0

Compositional bias

Poly-Gly

Hgene

ACTN4

chr19:39207956

chr1:19712120

ENST00000390009

19_26

162.0

693.0

Compositional bias

Poly-Gly

Hgene

ACTN4

chr19:39207956

chr1:19712120

ENST00000252699

163_269

381.0

912.0

Domain

Calponin-homology (CH) 2

Hgene

ACTN4

chr19:39207956

chr1:19712120

ENST00000252699

50_154

381.0

912.0

Domain

Calponin-homology (CH) 1

Hgene

ACTN4

chr19:39207956

chr1:19712120

ENST00000390009

50_154

162.0

693.0

Domain

Calponin-homology (CH) 1

Hgene

ACTN4

chr19:39207956

chr1:19712120

ENST00000252699

84_88

381.0

912.0

Motif

LXXLL motif

Hgene

ACTN4

chr19:39207956

chr1:19712120

ENST00000390009

84_88

162.0

693.0

Motif

LXXLL motif

Hgene

ACTN4

chr19:39207956

chr1:19712120

ENST00000252699

177_192

381.0

912.0

Region

Polyphosphoinositide (PIP2)-binding

Hgene

ACTN4

chr19:39207956

chr1:19712120

ENST00000252699

1_269

381.0

912.0

Region

Note=Actin-binding

- 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

ACTN4

chr19:39207956

chr1:19712120

ENST00000252699

778_789

381.0

912.0

Calcium binding

Hgene

ACTN4

chr19:39207956

chr1:19712120

ENST00000252699

819_830

381.0

912.0

Calcium binding

Hgene

ACTN4

chr19:39207956

chr1:19712120

ENST00000390009

778_789

162.0

693.0

Calcium binding

Hgene

ACTN4

chr19:39207956

chr1:19712120

ENST00000390009

819_830

162.0

693.0

Calcium binding

Hgene

ACTN4

chr19:39207956

chr1:19712120

ENST00000252699

765_800

381.0

912.0

Domain

EF-hand 1

Hgene

ACTN4

chr19:39207956

chr1:19712120

ENST00000252699

806_841

381.0

912.0

Domain

EF-hand 2

Hgene

ACTN4

chr19:39207956

chr1:19712120

ENST00000390009

163_269

162.0

693.0

Domain

Calponin-homology (CH) 2

Hgene

ACTN4

chr19:39207956

chr1:19712120

ENST00000390009

765_800

162.0

693.0

Domain

EF-hand 1

Hgene

ACTN4

chr19:39207956

chr1:19712120

ENST00000390009

806_841

162.0

693.0

Domain

EF-hand 2

Hgene

ACTN4

chr19:39207956

chr1:19712120

ENST00000390009

177_192

162.0

693.0

Region

Polyphosphoinositide (PIP2)-binding

Hgene

ACTN4

chr19:39207956

chr1:19712120

ENST00000390009

1_269

162.0

693.0

Region

Note=Actin-binding

Hgene

ACTN4

chr19:39207956

chr1:19712120

ENST00000252699

293_403

381.0

912.0

Repeat

Spectrin 1

Hgene

ACTN4

chr19:39207956

chr1:19712120

ENST00000252699

413_518

381.0

912.0

Repeat

Spectrin 2

Hgene

ACTN4

chr19:39207956

chr1:19712120

ENST00000252699

528_639

381.0

912.0

Repeat

Spectrin 3

Hgene

ACTN4

chr19:39207956

chr1:19712120

ENST00000252699

649_752

381.0

912.0

Repeat

Spectrin 4

Hgene

ACTN4

chr19:39207956

chr1:19712120

ENST00000390009

293_403

162.0

693.0

Repeat

Spectrin 1

Hgene

ACTN4

chr19:39207956

chr1:19712120

ENST00000390009

413_518

162.0

693.0

Repeat

Spectrin 2

Hgene

ACTN4

chr19:39207956

chr1:19712120

ENST00000390009

528_639

162.0

693.0

Repeat

Spectrin 3

Hgene

ACTN4

chr19:39207956

chr1:19712120

ENST00000390009

649_752

162.0

693.0

Repeat

Spectrin 4

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Fusion Protein Structures

PDB and CIF files of the predicted fusion proteins
* Here we show the 3D structure of the fusion proteins using Mol*. AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100. Model confidence is shown from the pLDDT values per residue. pLDDT corresponds to the model’s prediction of its score on the local Distance Difference Test. It is a measure of local accuracy (from AlphfaFold website). To color code individual residues, we transformed individual PDB files into CIF format.

Fusion protein PDB link (fusion AA seq ID in FusionPDB)

Hgene

Hchr

Hbp

Hstrand

Tgene

Tchr

Tbp

Tstrand

AA seq

Len(AA seq)

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pLDDT score distribution

pLDDT score distribution of the predicted wild-type structures of two partner proteins from AlphaFold2
* AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100.

ACTN4_pLDDT.png

CAPZB_pLDDT.png

pLDDT score distribution of the predicted fusion protein structures from AlphaFold2
* AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100.

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Ramachandran Plot of Fusion Protein Structure

Ramachandran plot of the torsional angles - phi (φ)and psi (ψ) - of the residues (amino acids) contained in this fusion protein peptide.

Fusion AA seq ID in FusionPDB and their Ramachandran plots

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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

ACTN4

MYOZ2, MYOZ1, PDLIM1, USP6NL, P2rx7, SLC9A3R2, COL17A1, TRIM3, MAGI1, GSN, Lrrc7, CAMK2A, CAMK2B, INO80, UBTF, STAT1, HDAC7, MEF2A, UCHL5, TJP1, ATXN7, HDAC5, VDR, ESR1, PSMA3, ELAVL1, SIRT7, SLC2A4, ISG15, COIL, SACS, HGS, UBASH3B, SHC1, NOS3, ACTN2, ACTN1, FMNL1, TRAF3IP1, FN1, VCAM1, Fcho2, CDH1, ITGA4, SVIL, CD81, IGSF8, ICAM1, TXN, RPS27, POT1, KPNA2, MAPK7, CDKN2A, VCP, SF3A3, GNB2, HUWE1, ACTN3, BMP7, ALK, CUL7, OBSL1, CCDC8, EGFR, LUZP4, RARA, HSPB1, AHNAK, ALDOA, ALDOC, IDH3A, MYH15, MYH2, MYH7B, NCAPG2, PSMA6, PSMB5, PUS7, TPM2, TSG101, CKB, CYC1, ECSIT, MCFD2, PSMB8, TPM1, TPM3, TPM4, NTRK1, CAPZA2, DBN1, FLNA, MYH9, MYO1C, PPP1CB, IQGAP1, PDLIM7, SYNPO, MAPRE1, SIN3B, MYEF2, LIMA1, ANLN, MYO5C, MYO19, MYO18A, Actb, Flot2, Myh9, Myo1c, Tpm1, Coro1c, Tmod3, Lima1, Ncbp2, Calml3, Myh10, Flnb, CTNNB1, MCM2, NFYA, CDC73, LCMT2, MEOX2, SORBS2, DDIAS, SSH1, act1, SLC9A1, NCL, DLD, DNM1L, PDHA1, SOD1, TRIM25, TES, CFTR, PPM1D, HDAC4, UBE2M, RAD18, PRPF8, TNIP2, RNF4, TRIM23, AGR2, ACTA1, MYC, CDK9, KIAA1429, ATG16L1, ACTC1, USP14, HDAC2, GBF1, AGRN, DYNC1LI1, BMH1, BMH2, ATXN3, BRF1, CYB5B, GBAS, HADHB, SYNJ2BP, VDAC3, RELA, PRMT5, MDP1, GRIN1, RGS9, BIRC3, SOX2, LNX1, MICALL2, C14orf119, PLEKHA4, PINK1, FANCD2, SH2D3C, SRC, TTN, NEK4, CIT, CHMP4B, CHMP4C, PTGER4, ECT2, KIF14, KIF20A, PRC1, PRNP, MKI67, HNRNPH1, NMRAL1, NUPR1, TRIM21, Apc2, RBM39, LGALS9, YWHAE, EIF3F, INSIG1, INSIG2, RIN3, CANX, GGH, ERP44, ACO2, KDM4C, AHCY, SHMT2, IDH2, SMCHD1, AR, TP53, ACTB, ANKFY1, EZR, RDX, VASP, ZYX, TRIM37, HTRA4, NUDCD2, BGLT3, BTF3, SEPT9, UBR5, LHPP, TFRC, CTSB, CTSS, DPP4, ORF3a, ORF8, NRP1, TMPRSS2, TOP3B, CTSL, FURIN, IFITM1, ANPEP, BSG, IFITM3, TMPRSS11B, CLEC4D, ACE2, TMPRSS4, CLEC4E, nsp2, ORF10, FGD5, TMEM106B, PDE4B, PER2, OTUD3, SIK2,

Protein-protein interactors based on sequence similarity (STRING)

Gene	STRING network
ACTN4
CAPZB

- 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

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Related Drugs to ACTN4-CAPZB

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 ACTN4-CAPZB

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	ACTN4	C4551527	Focal segmental glomerulosclerosis 1	9	GENOMICS_ENGLAND;UNIPROT
Hgene	ACTN4	C0007097	Carcinoma	1	CTD_human
Hgene	ACTN4	C0019193	Hepatitis, Toxic	1	CTD_human
Hgene	ACTN4	C0024667	Animal Mammary Neoplasms	1	CTD_human
Hgene	ACTN4	C0024668	Mammary Neoplasms, Experimental	1	CTD_human
Hgene	ACTN4	C0205696	Anaplastic carcinoma	1	CTD_human
Hgene	ACTN4	C0205697	Carcinoma, Spindle-Cell	1	CTD_human
Hgene	ACTN4	C0205698	Undifferentiated carcinoma	1	CTD_human
Hgene	ACTN4	C0205699	Carcinomatosis	1	CTD_human
Hgene	ACTN4	C0860207	Drug-Induced Liver Disease	1	CTD_human
Hgene	ACTN4	C1257925	Mammary Carcinoma, Animal	1	CTD_human
Hgene	ACTN4	C1262760	Hepatitis, Drug-Induced	1	CTD_human
Hgene	ACTN4	C1868672	NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE	1	ORPHANET
Hgene	ACTN4	C3658290	Drug-Induced Acute Liver Injury	1	CTD_human
Hgene	ACTN4	C4277682	Chemical and Drug Induced Liver Injury	1	CTD_human
Hgene	ACTN4	C4279912	Chemically-Induced Liver Toxicity	1	CTD_human