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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-CATSPERG

Fusion Protein Summary

Fusion gene summary

Fusion partner gene information	Fusion gene name: ACTN4-CATSPERG
	FusionPDB ID: 1767
	FusionGDB2.0 ID: 1767
		Hgene	Tgene
	Gene symbol	ACTN4	CATSPERG
	Gene ID	81	57828
	Gene name	actinin alpha 4	cation channel sperm associated auxiliary subunit gamma
	Synonyms	ACTININ-4\|FSGS\|FSGS1	C19orf15
	Cytomap	19q13.2	19q13.2
	Type of gene	protein-coding	protein-coding
	Description	alpha-actinin-4focal segmental glomerulosclerosis 1non-muscle alpha-actinin 4	cation channel sperm-associated protein subunit gammacatsper channel auxiliary subunit gamma
	Modification date	20200327	20200313
	UniProtAcc	O43707	Q6ZRH7
Ensembl transtripts involved in fusion gene	ENST ids	ENST00000252699, ENST00000390009, ENST00000424234, ENST00000497637,	ENST00000467739, ENST00000215069, ENST00000409235, ENST00000410018,
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)	* DoF score	42 X 60 X 18=45360	5 X 10 X 4=200
	# samples	77	6
	** MAII score	log2(77/45360*10)=-5.88041838424733 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(6/200*10)=-1.73696559416621 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 CATSPERG [Title/Abstract] AND fusion [Title/Abstract]
Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)	ACTN4(39200116)-CATSPERG(38848918), # samples:2 ACTN4(39200116)-CATSPERG(38834220), # samples:2
Anticipated loss of major functional domain due to fusion event.	ACTN4-CATSPERG 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-CATSPERG 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-CATSPERG 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-CATSPERG 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 CATSPERG (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	LUSC	TCGA-22-1005-01A	ACTN4	chr19	39200116	-	CATSPERG	chr19	38834220	+
ChimerDB4	LUSC	TCGA-22-1005-01A	ACTN4	chr19	39200116	+	CATSPERG	chr19	38848918	+
ChimerDB4	LUSC	TCGA-22-1005	ACTN4	chr19	39200116	+	CATSPERG	chr19	38834220	+
ChimerDB4	LUSC	TCGA-22-1005	ACTN4	chr19	39200116	+	CATSPERG	chr19	38834289	+
ChimerDB4	LUSC	TCGA-22-1005	ACTN4	chr19	39200116	+	CATSPERG	chr19	38848918	+

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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

39200116

ENST00000409235

CATSPERG

chr19

38848918

3125

809

2973

965

ENST00000252699

ACTN4

chr19

39200116

ENST00000410018

CATSPERG

chr19

38848918

3125

809

2973

965

ENST00000252699

ACTN4

chr19

39200116

ENST00000215069

CATSPERG

chr19

38848918

3019

809

966

2861

631

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	ENST00000409235	ACTN4	chr19	39200116	+	CATSPERG	chr19	38848918	+	0.002503892	0.99749607
ENST00000252699	ENST00000410018	ACTN4	chr19	39200116	+	CATSPERG	chr19	38848918	+	0.002503892	0.99749607
ENST00000252699	ENST00000215069	ACTN4	chr19	39200116	+	CATSPERG	chr19	38848918	+	0.009839974	0.99016005

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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

>1767_1767_1_ACTN4-CATSPERG_ACTN4_chr19_39200116_ENST00000252699_CATSPERG_chr19_38848918_ENST00000215069_length(amino acids)=631AA_BP=
MGQLPPAEIWYLLEGSYRVYQLFPSKGWQVHISLKLMQQSSLYASNETMLTLFYEDSKLYQLVYLMNNQKGQLVKRLVPVEQLLMYQQHT
SHYDLERKGGYLMLSFIDFCPFSVMRLRSLPSPQRYTRQERYRARPPRVLERSGFHNENSLAIYQGLVYYLLWLHSVYDKPYADPVHDPT
WRWWANNKQDQDYYFFLASNWRSAGGVSIEMDSYEKIYNLESAYELPERIFLDKGTEYSFAIFLSAQGHSFRTQSELGTAFQLHSQVDVG
VVLADPGCIEASVKQEVLINRNSVLFSITLKDKKLCYDQGISGHHLMETSMTVNVVGSSGLCFQETHLGPHMQGNLMVPVFIGCPPGKRL
AFDITYTLEYSRLKNKHYFDCVNVNPEMPCFLFRDIFYPFFLIQDLVTGDSGSFQGSYVLLVVGGGPTLDSLKDYSEDEIYRFNSPLDKT
NSLIWTTRTTRTTKDSAFHIMSHESPGIEWLCLENAPCYDNVPQGIFAPEFFFKVLVSNRGVDTSTYCNYQLTFLLHIHGLPLSPKRALF
IIMVSASVFVGLVIFYIAFCLLWPLVVKGCTMIRWKINNLIASESYYTYASISGISSMPSLRHSRMGSMFSSRMTEDRAEPKEAVERQLM

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

>1767_1767_2_ACTN4-CATSPERG_ACTN4_chr19_39200116_ENST00000252699_CATSPERG_chr19_38848918_ENST00000409235_length(amino acids)=965AA_BP=244
MVDYHAANQSYQYGPSSAGNGAGGGGSMGDYMAQEDDWDRDLLLDPAWEKQQRKTFTAWCNSHLRKAGTQIENIDEDFRDGLKLMLLLEV
ISGERLPKPERGKMRVHKINNVNKALDFIASKGVKLVSIGAEEIVDGNAKMTLGMIWTIILRFAIQDISVEETSAKEGLLLWCQRKTAPY
KNVNVQNFHISWKDGLAFNALIHRHRPELIEYDKLRKDDPVTNLNNAFEVAEKYLDIPKMLDAEASDDLELLYHIPEFIPEARGLEFLMI
LGTESYTSTAMAPKGIFCNPYNNLIFIWGNFLLQSSNKENFIYLADFPKELSIKYMARSFRGAVAIVTETEEIWYLLEGSYRVYQLFPSK
GWQVHISLKLMQQSSLYASNETMLTLFYEDSKLYQLVYLMNNQKGQLVKRLVPVEQLLMYQQHTSHYDLERKGGYLMLSFIDFCPFSVMR
LRSLPSPQRYTRQERYRARPPRVLERSGFHNENSLAIYQGLVYYLLWLHSVYDKPYADPVHDPTWRWWANNKQDQDYYFFLASNWRSAGG
VSIEMDSYEKIYNLESAYELPERIFLDKGTEYSFAIFLSAQGHSFRTQSELGTAFQLHSQVDVGVVLADPGCIEASVKQEVLINRNSVLF
SITLKDKKLCYDQGISGHHLMETSMTVNVVGSSGLCFQETHLGPHMQGNLMVPVFIGCPPGKRLAFDITYTLEYSRLKNKHYFDCVNVNP
EMPCFLFRDIFYPFFLIQDLVTGDSGSFQGSYVLLVVGGGPTLDSLKDYSEDEIYRFNSPLDKTNSLIWTTRTTRTTKDSAFHIMSHESP
GIEWLCLENAPCYDNVPQGIFAPEFFFKVLVSNRGVDTSTYCNYQLTFLLHIHGLPLSPKRALFIIMVSASVFVGLVIFYIAFCLLWPLV

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

>1767_1767_3_ACTN4-CATSPERG_ACTN4_chr19_39200116_ENST00000252699_CATSPERG_chr19_38848918_ENST00000410018_length(amino acids)=965AA_BP=244
MVDYHAANQSYQYGPSSAGNGAGGGGSMGDYMAQEDDWDRDLLLDPAWEKQQRKTFTAWCNSHLRKAGTQIENIDEDFRDGLKLMLLLEV
ISGERLPKPERGKMRVHKINNVNKALDFIASKGVKLVSIGAEEIVDGNAKMTLGMIWTIILRFAIQDISVEETSAKEGLLLWCQRKTAPY
KNVNVQNFHISWKDGLAFNALIHRHRPELIEYDKLRKDDPVTNLNNAFEVAEKYLDIPKMLDAEASDDLELLYHIPEFIPEARGLEFLMI
LGTESYTSTAMAPKGIFCNPYNNLIFIWGNFLLQSSNKENFIYLADFPKELSIKYMARSFRGAVAIVTETEEIWYLLEGSYRVYQLFPSK
GWQVHISLKLMQQSSLYASNETMLTLFYEDSKLYQLVYLMNNQKGQLVKRLVPVEQLLMYQQHTSHYDLERKGGYLMLSFIDFCPFSVMR
LRSLPSPQRYTRQERYRARPPRVLERSGFHNENSLAIYQGLVYYLLWLHSVYDKPYADPVHDPTWRWWANNKQDQDYYFFLASNWRSAGG
VSIEMDSYEKIYNLESAYELPERIFLDKGTEYSFAIFLSAQGHSFRTQSELGTAFQLHSQVDVGVVLADPGCIEASVKQEVLINRNSVLF
SITLKDKKLCYDQGISGHHLMETSMTVNVVGSSGLCFQETHLGPHMQGNLMVPVFIGCPPGKRLAFDITYTLEYSRLKNKHYFDCVNVNP
EMPCFLFRDIFYPFFLIQDLVTGDSGSFQGSYVLLVVGGGPTLDSLKDYSEDEIYRFNSPLDKTNSLIWTTRTTRTTKDSAFHIMSHESP
GIEWLCLENAPCYDNVPQGIFAPEFFFKVLVSNRGVDTSTYCNYQLTFLLHIHGLPLSPKRALFIIMVSASVFVGLVIFYIAFCLLWPLV

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

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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/chr19:39200116/chr19:38848918)
- 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	CATSPERG Q6ZRH7
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: Probably involved in sperm cell hyperactivation via its association with CATSPER1. Sperm cell hyperactivation is needed for sperm motility which is essential late in the preparation of sperm for fertilization. {ECO:0000250\|UniProtKB:C6KI89}.

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

chr19:39200116

chr19:38848918

ENST00000252699

19_26

244.33333333333334

912.0

Compositional bias

Poly-Gly

Hgene

ACTN4

chr19:39200116

chr19:38848918

ENST00000252699

50_154

244.33333333333334

912.0

Domain

Calponin-homology (CH) 1

Hgene

ACTN4

chr19:39200116

chr19:38848918

ENST00000252699

84_88

244.33333333333334

912.0

Motif

LXXLL motif

Hgene

ACTN4

chr19:39200116

chr19:38848918

ENST00000252699

177_192

244.33333333333334

912.0

Region

Polyphosphoinositide (PIP2)-binding

Tgene

CATSPERG

chr19:39200116

chr19:38848918

ENST00000409235

1088_1159

438.3333333333333

1160.0

Topological domain

Cytoplasmic

Tgene

CATSPERG

chr19:39200116

chr19:38848918

ENST00000409235

1067_1087

438.3333333333333

1160.0

Transmembrane

Helical

- 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

chr19:39200116

chr19:38848918

ENST00000252699

778_789

244.33333333333334

912.0

Calcium binding

Hgene

ACTN4

chr19:39200116

chr19:38848918

ENST00000252699

819_830

244.33333333333334

912.0

Calcium binding

Hgene

ACTN4

chr19:39200116

chr19:38848918

ENST00000390009

778_789

693.0

Calcium binding

Hgene

ACTN4

chr19:39200116

chr19:38848918

ENST00000390009

819_830

693.0

Calcium binding

Hgene

ACTN4

chr19:39200116

chr19:38848918

ENST00000390009

19_26

693.0

Compositional bias

Poly-Gly

Hgene

ACTN4

chr19:39200116

chr19:38848918

ENST00000252699

163_269

244.33333333333334

912.0

Domain

Calponin-homology (CH) 2

Hgene

ACTN4

chr19:39200116

chr19:38848918

ENST00000252699

765_800

244.33333333333334

912.0

Domain

EF-hand 1

Hgene

ACTN4

chr19:39200116

chr19:38848918

ENST00000252699

806_841

244.33333333333334

912.0

Domain

EF-hand 2

Hgene

ACTN4

chr19:39200116

chr19:38848918

ENST00000390009

163_269

693.0

Domain

Calponin-homology (CH) 2

Hgene

ACTN4

chr19:39200116

chr19:38848918

ENST00000390009

50_154

693.0

Domain

Calponin-homology (CH) 1

Hgene

ACTN4

chr19:39200116

chr19:38848918

ENST00000390009

765_800

693.0

Domain

EF-hand 1

Hgene

ACTN4

chr19:39200116

chr19:38848918

ENST00000390009

806_841

693.0

Domain

EF-hand 2

Hgene

ACTN4

chr19:39200116

chr19:38848918

ENST00000390009

84_88

693.0

Motif

LXXLL motif

Hgene

ACTN4

chr19:39200116

chr19:38848918

ENST00000252699

1_269

244.33333333333334

912.0

Region

Note=Actin-binding

Hgene

ACTN4

chr19:39200116

chr19:38848918

ENST00000390009

177_192

693.0

Region

Polyphosphoinositide (PIP2)-binding

Hgene

ACTN4

chr19:39200116

chr19:38848918

ENST00000390009

1_269

693.0

Region

Note=Actin-binding

Hgene

ACTN4

chr19:39200116

chr19:38848918

ENST00000252699

293_403

244.33333333333334

912.0

Repeat

Spectrin 1

Hgene

ACTN4

chr19:39200116

chr19:38848918

ENST00000252699

413_518

244.33333333333334

912.0

Repeat

Spectrin 2

Hgene

ACTN4

chr19:39200116

chr19:38848918

ENST00000252699

528_639

244.33333333333334

912.0

Repeat

Spectrin 3

Hgene

ACTN4

chr19:39200116

chr19:38848918

ENST00000252699

649_752

244.33333333333334

912.0

Repeat

Spectrin 4

Hgene

ACTN4

chr19:39200116

chr19:38848918

ENST00000390009

293_403

693.0

Repeat

Spectrin 1

Hgene

ACTN4

chr19:39200116

chr19:38848918

ENST00000390009

413_518

693.0

Repeat

Spectrin 2

Hgene

ACTN4

chr19:39200116

chr19:38848918

ENST00000390009

528_639

693.0

Repeat

Spectrin 3

Hgene

ACTN4

chr19:39200116

chr19:38848918

ENST00000390009

649_752

693.0

Repeat

Spectrin 4

Tgene

CATSPERG

chr19:39200116

chr19:38848918

ENST00000409235

36_1066

438.3333333333333

1160.0

Topological domain

Extracellular

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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)
PDB file >>>1766_ACTN4_39200116_CATSPERG_38848918_ranked_0.pdb	ACTN4	39200116	39200116	ENST00000215069	CATSPERG	chr19	38848918	+	MVDYHAANQSYQYGPSSAGNGAGGGGSMGDYMAQEDDWDRDLLLDPAWEKQQRKTFTAWCNSHLRKAGTQIENIDEDFRDGLKLMLLLEV ISGERLPKPERGKMRVHKINNVNKALDFIASKGVKLVSIGAEEIVDGNAKMTLGMIWTIILRFAIQDISVEETSAKEGLLLWCQRKTAPY KNVNVQNFHISWKDGLAFNALIHRHRPELIEYDKLRKDDPVTNLNNAFEVAEKYLDIPKMLDAEASDDLELLYHIPEFIPEARGLEFLMI LGTESYTSTAMAPKGIFCNPYNNLIFIWGNFLLQSSNKENFIYLADFPKELSIKYMARSFRGAVAIVTETEEIWYLLEGSYRVYQLFPSK GWQVHISLKLMQQSSLYASNETMLTLFYEDSKLYQLVYLMNNQKGQLVKRLVPVEQLLMYQQHTSHYDLERKGGYLMLSFIDFCPFSVMR LRSLPSPQRYTRQERYRARPPRVLERSGFHNENSLAIYQGLVYYLLWLHSVYDKPYADPVHDPTWRWWANNKQDQDYYFFLASNWRSAGG VSIEMDSYEKIYNLESAYELPERIFLDKGTEYSFAIFLSAQGHSFRTQSELGTAFQLHSQVDVGVVLADPGCIEASVKQEVLINRNSVLF SITLKDKKLCYDQGISGHHLMETSMTVNVVGSSGLCFQETHLGPHMQGNLMVPVFIGCPPGKRLAFDITYTLEYSRLKNKHYFDCVNVNP EMPCFLFRDIFYPFFLIQDLVTGDSGSFQGSYVLLVVGGGPTLDSLKDYSEDEIYRFNSPLDKTNSLIWTTRTTRTTKDSAFHIMSHESP GIEWLCLENAPCYDNVPQGIFAPEFFFKVLVSNRGVDTSTYCNYQLTFLLHIHGLPLSPKRALFIIMVSASVFVGLVIFYIAFCLLWPLV	965

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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

CATSPERG_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
CATSPERG

- 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	ACTN4	chr19:39200116	chr19:38848918	ENST00000390009	+	1	14	108_126	0	693.0	VCL
Hgene	ACTN4	chr19:39200116	chr19:38848918	ENST00000390009	+	1	14	12_26	0	693.0	VCL
Hgene	ACTN4	chr19:39200116	chr19:38848918	ENST00000390009	+	1	14	40_61	0	693.0	VCL

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Related Drugs to ACTN4-CATSPERG

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-CATSPERG

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