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Center for Computational Systems Medicine
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Fusion Gene Summary

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Fusion Gene ORF analysis

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Fusion Genomic Features

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Fusion Protein Features

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Fusion Gene Sequence

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Fusion Gene PPI analysis

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Related Drugs

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Related Diseases

Fusion gene:ACTN4-CATSPERG (FusionGDB2 ID:1886)

Fusion Gene Summary for ACTN4-CATSPERG

check button Fusion gene summary
Fusion gene informationFusion gene name: ACTN4-CATSPERG
Fusion gene ID: 1886
HgeneTgene
Gene symbol

ACTN4

CATSPERG

Gene ID

81

57828

Gene nameactinin alpha 4cation channel sperm associated auxiliary subunit gamma
SynonymsACTININ-4|FSGS|FSGS1C19orf15
Cytomap

19q13.2

19q13.2

Type of geneprotein-codingprotein-coding
Descriptionalpha-actinin-4focal segmental glomerulosclerosis 1non-muscle alpha-actinin 4cation channel sperm-associated protein subunit gammacatsper channel auxiliary subunit gamma
Modification date2020032720200313
UniProtAcc.

Q6ZRH7

Ensembl transtripts involved in fusion geneENST00000252699, ENST00000424234, 
ENST00000390009, ENST00000497637, 
ENST00000409235, ENST00000410018, 
ENST00000215069, ENST00000467739, 
Fusion gene scores* DoF score42 X 60 X 18=453605 X 10 X 4=200
# samples 776
** MAII scorelog2(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

PubMed: ACTN4 [Title/Abstract] AND CATSPERG [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointACTN4(39200116)-CATSPERG(38848918), # samples:2
ACTN4(39200116)-CATSPERG(38834220), # samples:2
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)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
HgeneACTN4

GO:0033209

tumor necrosis factor-mediated signaling pathway

25411248

HgeneACTN4

GO:0035357

peroxisome proliferator activated receptor signaling pathway

22351778

HgeneACTN4

GO:0048384

retinoic acid receptor signaling pathway

22351778

HgeneACTN4

GO:0051272

positive regulation of cellular component movement

9508771


check buttonFusion 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.

check buttonFusion 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.

check button 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.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChimerDB4LUSCTCGA-22-1005-01AACTN4chr19

39200116

+CATSPERGchr19

38848918

+
ChimerDB4LUSCTCGA-22-1005ACTN4chr19

39200116

+CATSPERGchr19

38848918

+
ChimerDB4LUSCTCGA-22-1005ACTN4chr19

39200116

+CATSPERGchr19

38834220

+
ChimerDB4LUSCTCGA-22-1005ACTN4chr19

39200116

+CATSPERGchr19

38834289

+
ChimerDB4LUSCTCGA-22-1005-01AACTN4chr19

39200116

-CATSPERGchr19

38834220

+


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Fusion Gene ORF analysis for ACTN4-CATSPERG

check button 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.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
In-frameENST00000252699ENST00000409235ACTN4chr19

39200116

+CATSPERGchr19

38848918

+
In-frameENST00000252699ENST00000410018ACTN4chr19

39200116

+CATSPERGchr19

38848918

+
In-frameENST00000252699ENST00000215069ACTN4chr19

39200116

+CATSPERGchr19

38848918

+
5CDS-intronENST00000252699ENST00000467739ACTN4chr19

39200116

+CATSPERGchr19

38848918

+
intron-3CDSENST00000424234ENST00000409235ACTN4chr19

39200116

+CATSPERGchr19

38848918

+
intron-3CDSENST00000424234ENST00000410018ACTN4chr19

39200116

+CATSPERGchr19

38848918

+
intron-3CDSENST00000424234ENST00000215069ACTN4chr19

39200116

+CATSPERGchr19

38848918

+
intron-intronENST00000424234ENST00000467739ACTN4chr19

39200116

+CATSPERGchr19

38848918

+
intron-3CDSENST00000390009ENST00000409235ACTN4chr19

39200116

+CATSPERGchr19

38848918

+
intron-3CDSENST00000390009ENST00000410018ACTN4chr19

39200116

+CATSPERGchr19

38848918

+
intron-3CDSENST00000390009ENST00000215069ACTN4chr19

39200116

+CATSPERGchr19

38848918

+
intron-intronENST00000390009ENST00000467739ACTN4chr19

39200116

+CATSPERGchr19

38848918

+
intron-3CDSENST00000497637ENST00000409235ACTN4chr19

39200116

+CATSPERGchr19

38848918

+
intron-3CDSENST00000497637ENST00000410018ACTN4chr19

39200116

+CATSPERGchr19

38848918

+
intron-3CDSENST00000497637ENST00000215069ACTN4chr19

39200116

+CATSPERGchr19

38848918

+
intron-intronENST00000497637ENST00000467739ACTN4chr19

39200116

+CATSPERGchr19

38848918

+
Frame-shiftENST00000252699ENST00000409235ACTN4chr19

39200116

+CATSPERGchr19

38834220

+
Frame-shiftENST00000252699ENST00000410018ACTN4chr19

39200116

+CATSPERGchr19

38834220

+
Frame-shiftENST00000252699ENST00000215069ACTN4chr19

39200116

+CATSPERGchr19

38834220

+
5CDS-intronENST00000252699ENST00000467739ACTN4chr19

39200116

+CATSPERGchr19

38834220

+
intron-3CDSENST00000424234ENST00000409235ACTN4chr19

39200116

+CATSPERGchr19

38834220

+
intron-3CDSENST00000424234ENST00000410018ACTN4chr19

39200116

+CATSPERGchr19

38834220

+
intron-3CDSENST00000424234ENST00000215069ACTN4chr19

39200116

+CATSPERGchr19

38834220

+
intron-intronENST00000424234ENST00000467739ACTN4chr19

39200116

+CATSPERGchr19

38834220

+
intron-3CDSENST00000390009ENST00000409235ACTN4chr19

39200116

+CATSPERGchr19

38834220

+
intron-3CDSENST00000390009ENST00000410018ACTN4chr19

39200116

+CATSPERGchr19

38834220

+
intron-3CDSENST00000390009ENST00000215069ACTN4chr19

39200116

+CATSPERGchr19

38834220

+
intron-intronENST00000390009ENST00000467739ACTN4chr19

39200116

+CATSPERGchr19

38834220

+
intron-3CDSENST00000497637ENST00000409235ACTN4chr19

39200116

+CATSPERGchr19

38834220

+
intron-3CDSENST00000497637ENST00000410018ACTN4chr19

39200116

+CATSPERGchr19

38834220

+
intron-3CDSENST00000497637ENST00000215069ACTN4chr19

39200116

+CATSPERGchr19

38834220

+
intron-intronENST00000497637ENST00000467739ACTN4chr19

39200116

+CATSPERGchr19

38834220

+
Frame-shiftENST00000252699ENST00000409235ACTN4chr19

39200116

+CATSPERGchr19

38834289

+
Frame-shiftENST00000252699ENST00000410018ACTN4chr19

39200116

+CATSPERGchr19

38834289

+
Frame-shiftENST00000252699ENST00000215069ACTN4chr19

39200116

+CATSPERGchr19

38834289

+
5CDS-intronENST00000252699ENST00000467739ACTN4chr19

39200116

+CATSPERGchr19

38834289

+
intron-3CDSENST00000424234ENST00000409235ACTN4chr19

39200116

+CATSPERGchr19

38834289

+
intron-3CDSENST00000424234ENST00000410018ACTN4chr19

39200116

+CATSPERGchr19

38834289

+
intron-3CDSENST00000424234ENST00000215069ACTN4chr19

39200116

+CATSPERGchr19

38834289

+
intron-intronENST00000424234ENST00000467739ACTN4chr19

39200116

+CATSPERGchr19

38834289

+
intron-3CDSENST00000390009ENST00000409235ACTN4chr19

39200116

+CATSPERGchr19

38834289

+
intron-3CDSENST00000390009ENST00000410018ACTN4chr19

39200116

+CATSPERGchr19

38834289

+
intron-3CDSENST00000390009ENST00000215069ACTN4chr19

39200116

+CATSPERGchr19

38834289

+
intron-intronENST00000390009ENST00000467739ACTN4chr19

39200116

+CATSPERGchr19

38834289

+
intron-3CDSENST00000497637ENST00000409235ACTN4chr19

39200116

+CATSPERGchr19

38834289

+
intron-3CDSENST00000497637ENST00000410018ACTN4chr19

39200116

+CATSPERGchr19

38834289

+
intron-3CDSENST00000497637ENST00000215069ACTN4chr19

39200116

+CATSPERGchr19

38834289

+
intron-intronENST00000497637ENST00000467739ACTN4chr19

39200116

+CATSPERGchr19

38834289

+

check buttonORFfinder result based on the fusion transcript sequence of in-frame fusion genes.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)		BP loci
(transcript)		Predicted start
(transcript)		Predicted stop
(transcript)		Seq length
(amino acids)
ENST00000252699ACTN4chr1939200116+ENST00000409235CATSPERGchr1938848918+3125809762973965
ENST00000252699ACTN4chr1939200116+ENST00000410018CATSPERGchr1938848918+3125809762973965
ENST00000252699ACTN4chr1939200116+ENST00000215069CATSPERGchr1938848918+30198099662861631

check buttonDeepORF 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.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score
ENST00000252699ENST00000409235ACTN4chr1939200116+CATSPERGchr1938848918+0.0025038920.99749607
ENST00000252699ENST00000410018ACTN4chr1939200116+CATSPERGchr1938848918+0.0025038920.99749607
ENST00000252699ENST00000215069ACTN4chr1939200116+CATSPERGchr1938848918+0.0098399740.99016005

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Fusion Genomic Features for ACTN4-CATSPERG


check buttonFusionAI 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.
HgeneHchrHbpHstrandTgeneTchrTbpTstrand1-pp (fusion gene breakpoint)
ACTN4chr1939200116+CATSPERGchr1938848917+6.35E-060.9999937
ACTN4chr1939200116+CATSPERGchr1938848917+6.35E-060.9999937
ACTN4chr1939200116+CATSPERGchr1938834219+9.04E-091
ACTN4chr1939200116+CATSPERGchr1938848917+6.35E-060.9999937
ACTN4chr1939200116+CATSPERGchr1938848917+6.35E-060.9999937
ACTN4chr1939200116+CATSPERGchr1938834219+9.04E-091

check buttonDistribution 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.

check buttonDistribution 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 ACTN4-CATSPERG


check button Go to

FGviewer for the breakpoints of 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.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
.CATSPERG

Q6ZRH7

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.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}.

check buttonRetention 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.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneACTN4chr19:39200116chr19:38848918ENST00000252699+72119_26244.33333333333334912.0Compositional biasPoly-Gly
HgeneACTN4chr19:39200116chr19:38848918ENST00000252699+72150_154244.33333333333334912.0DomainCalponin-homology (CH) 1
HgeneACTN4chr19:39200116chr19:38848918ENST00000252699+72184_88244.33333333333334912.0MotifLXXLL motif
HgeneACTN4chr19:39200116chr19:38848918ENST00000252699+721177_192244.33333333333334912.0RegionPolyphosphoinositide (PIP2)-binding
TgeneCATSPERGchr19:39200116chr19:38848918ENST0000040923510291088_1159438.33333333333331160.0Topological domainCytoplasmic
TgeneCATSPERGchr19:39200116chr19:38848918ENST0000040923510291067_1087438.33333333333331160.0TransmembraneHelical

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneACTN4chr19:39200116chr19:38848918ENST00000252699+721778_789244.33333333333334912.0Calcium binding1
HgeneACTN4chr19:39200116chr19:38848918ENST00000252699+721819_830244.33333333333334912.0Calcium binding2
HgeneACTN4chr19:39200116chr19:38848918ENST00000390009+114778_7890693.0Calcium binding1
HgeneACTN4chr19:39200116chr19:38848918ENST00000390009+114819_8300693.0Calcium binding2
HgeneACTN4chr19:39200116chr19:38848918ENST00000390009+11419_260693.0Compositional biasPoly-Gly
HgeneACTN4chr19:39200116chr19:38848918ENST00000252699+721163_269244.33333333333334912.0DomainCalponin-homology (CH) 2
HgeneACTN4chr19:39200116chr19:38848918ENST00000252699+721765_800244.33333333333334912.0DomainEF-hand 1
HgeneACTN4chr19:39200116chr19:38848918ENST00000252699+721806_841244.33333333333334912.0DomainEF-hand 2
HgeneACTN4chr19:39200116chr19:38848918ENST00000390009+114163_2690693.0DomainCalponin-homology (CH) 2
HgeneACTN4chr19:39200116chr19:38848918ENST00000390009+11450_1540693.0DomainCalponin-homology (CH) 1
HgeneACTN4chr19:39200116chr19:38848918ENST00000390009+114765_8000693.0DomainEF-hand 1
HgeneACTN4chr19:39200116chr19:38848918ENST00000390009+114806_8410693.0DomainEF-hand 2
HgeneACTN4chr19:39200116chr19:38848918ENST00000390009+11484_880693.0MotifLXXLL motif
HgeneACTN4chr19:39200116chr19:38848918ENST00000252699+7211_269244.33333333333334912.0RegionNote=Actin-binding
HgeneACTN4chr19:39200116chr19:38848918ENST00000390009+114177_1920693.0RegionPolyphosphoinositide (PIP2)-binding
HgeneACTN4chr19:39200116chr19:38848918ENST00000390009+1141_2690693.0RegionNote=Actin-binding
HgeneACTN4chr19:39200116chr19:38848918ENST00000252699+721293_403244.33333333333334912.0RepeatSpectrin 1
HgeneACTN4chr19:39200116chr19:38848918ENST00000252699+721413_518244.33333333333334912.0RepeatSpectrin 2
HgeneACTN4chr19:39200116chr19:38848918ENST00000252699+721528_639244.33333333333334912.0RepeatSpectrin 3
HgeneACTN4chr19:39200116chr19:38848918ENST00000252699+721649_752244.33333333333334912.0RepeatSpectrin 4
HgeneACTN4chr19:39200116chr19:38848918ENST00000390009+114293_4030693.0RepeatSpectrin 1
HgeneACTN4chr19:39200116chr19:38848918ENST00000390009+114413_5180693.0RepeatSpectrin 2
HgeneACTN4chr19:39200116chr19:38848918ENST00000390009+114528_6390693.0RepeatSpectrin 3
HgeneACTN4chr19:39200116chr19:38848918ENST00000390009+114649_7520693.0RepeatSpectrin 4
TgeneCATSPERGchr19:39200116chr19:38848918ENST00000409235102936_1066438.33333333333331160.0Topological domainExtracellular


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Fusion Gene Sequence for ACTN4-CATSPERG


check button 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.
>In-frame_ENST00000252699_ENST00000409235_TCGA-22-1005-01A_ACTN4_chr19_39200116_+_CATSPERG_chr19_38848918_length(transcript)=3125nt_BP=809nt
GCGGCGGCGGCTCGGGCAGAGGGGCGGGAGCTGAGGCGGGAGCGGACAGGCTGGTGGGCGAGCGAGAGGCGGCGGAATGGTGGACTACCA
CGCGGCGAACCAGTCGTACCAGTACGGCCCCAGCAGCGCGGGCAATGGCGCTGGCGGCGGGGGCAGCATGGGCGACTACATGGCCCAGGA
GGACGACTGGGACCGGGACCTGCTGCTGGACCCGGCCTGGGAGAAGCAGCAGCGCAAGACCTTCACGGCATGGTGCAACTCCCACCTGCG
GAAGGCAGGCACACAGATCGAGAACATTGATGAGGACTTCCGAGACGGGCTCAAGCTCATGCTGCTCCTGGAGGTCATATCAGGGGAGCG
GTTACCTAAGCCGGAGCGGGGGAAGATGAGAGTGCACAAAATCAACAATGTGAACAAAGCGCTGGACTTTATTGCCAGCAAAGGCGTCAA
GCTGGTCTCCATCGGGGCAGAAGAGATTGTGGACGGCAACGCAAAGATGACCCTGGGAATGATCTGGACCATCATCCTTAGGTTCGCCAT
CCAGGACATCTCCGTGGAAGAGACCTCGGCCAAGGAAGGGCTCCTTCTCTGGTGCCAGAGAAAGACAGCCCCGTATAAGAACGTCAATGT
GCAGAACTTCCACATCAGCTGGAAGGATGGTCTTGCCTTCAATGCCCTGATCCACCGGCACAGACCAGAGCTGATTGAGTATGACAAGCT
GAGGAAGGACGACCCTGTCACCAACCTGAACAATGCCTTCGAAGTGGCTGAGAAATACCTCGACATCCCCAAGATGCTGGATGCAGAGGC
TAGTGATGACCTGGAACTTCTCTACCACATCCCAGAATTCATCCCTGAAGCTCGAGGATTGGAGTTCCTGATGATCCTAGGGACAGAGTC
CTACACCAGCACTGCAATGGCCCCCAAGGGCATCTTCTGTAACCCGTACAACAATCTGATCTTCATCTGGGGCAACTTCCTCCTGCAGAG
CTCTAACAAGGAAAACTTCATCTACCTGGCAGACTTCCCCAAGGAACTGTCCATCAAATACATGGCCAGATCGTTCCGTGGGGCTGTGGC
TATTGTCACAGAGACGGAGGAGATCTGGTACCTCCTGGAGGGCAGCTACCGGGTCTACCAGCTGTTCCCTTCCAAGGGCTGGCAGGTGCA
CATCAGCTTAAAGCTGATGCAACAGTCCTCTCTCTACGCATCCAATGAGACCATGCTGACCCTCTTCTACGAAGACAGCAAACTGTACCA
GCTGGTGTACCTTATGAACAACCAGAAGGGCCAGCTGGTCAAGAGGCTCGTGCCCGTGGAGCAGCTTCTGATGTATCAACAGCACACCAG
CCACTATGACTTGGAGCGGAAAGGGGGCTACTTGATGCTCTCCTTCATCGACTTCTGCCCCTTCTCGGTGATGCGCCTGCGGAGCCTGCC
CAGTCCGCAGAGATACACGCGCCAGGAGCGCTACCGGGCGCGGCCGCCGCGCGTCCTGGAGCGCTCGGGCTTCCACAACGAGAACTCGCT
CGCCATCTACCAGGGCCTGGTCTACTACCTGCTGTGGCTGCACTCCGTGTACGACAAGCCGTACGCGGACCCGGTGCACGACCCCACCTG
GCGCTGGTGGGCGAACAACAAACAAGACCAGGATTACTACTTCTTCTTGGCGAGCAATTGGCGAAGCGCGGGCGGCGTGTCCATAGAAAT
GGACAGCTACGAAAAGATCTACAACCTCGAGTCCGCGTACGAGCTGCCGGAGCGCATTTTCCTGGACAAGGGCACTGAGTACAGCTTCGC
CATCTTCCTGTCGGCGCAGGGCCACTCGTTCCGGACGCAGTCAGAACTCGGCACCGCCTTCCAGCTGCATAGCCAGGTGGACGTGGGCGT
GGTGCTGGCCGACCCCGGCTGCATCGAGGCCTCGGTGAAGCAGGAGGTCCTGATTAATCGCAACTCGGTGCTATTTTCGATTACGCTCAA
GGATAAAAAGCTTTGCTATGACCAAGGCATTAGTGGACATCACCTTATGGAGACTTCCATGACGGTCAATGTGGTGGGTTCATCCGGGCT
CTGCTTCCAGGAAACACACCTGGGGCCCCATATGCAAGGCAACCTGATGGTGCCAGTGTTCATTGGCTGCCCCCCAGGCAAGCGCCTGGC
CTTCGACATCACCTACACGCTGGAATACAGCCGCCTGAAGAACAAACACTACTTTGACTGCGTTAACGTGAACCCGGAGATGCCCTGCTT
TCTCTTCCGGGACATTTTCTACCCCTTCTTCTTGATTCAAGATTTGGTGACAGGAGACTCCGGCAGTTTCCAGGGCAGCTATGTTCTGCT
GGTGGTGGGTGGCGGGCCCACACTGGACAGCCTCAAGGACTACAGTGAGGACGAAATCTACCGCTTCAACAGCCCCCTGGACAAGACCAA
CAGCCTTATCTGGACCACGAGGACCACAAGGACCACCAAAGACTCAGCCTTTCACATCATGTCCCACGAGAGCCCAGGCATCGAGTGGCT
CTGTCTGGAGAATGCCCCATGCTATGACAATGTTCCCCAAGGCATCTTTGCCCCTGAATTCTTCTTCAAGGTGTTGGTGAGCAATAGAGG
AGTGGACACGAGCACCTACTGCAACTACCAGCTCACCTTCCTGCTGCACATCCACGGGCTGCCACTCAGTCCCAAGCGGGCCCTTTTCAT
CATCATGGTGTCAGCTAGCGTGTTTGTGGGCCTGGTGATCTTCTACATCGCCTTCTGCCTCCTGTGGCCCCTCGTGGTGAAGGGCTGCAC
GATGATCCGGTGGAAGATAAACAACCTCATTGCCTCAGAATCCTACTACACCTACGCCTCCATTTCCGGAATCTCGAGCATGCCGTCTCT
GAGACATTCCAGGATGGGCTCCATGTTCAGCTCCAGGATGACAGAGGACAGGGCTGAACCCAAGGAAGCCGTGGAGAGACAGTTGATGAC
CTGAGTGTCCCACCTGCCCCAGCCCCCAGTTACTGTCACGCCTCTCTTATGAGGCCCATCTTGAAGATGCAACCTGTCACCCAGCCCAGG

>In-frame_ENST00000252699_ENST00000409235_TCGA-22-1005-01A_ACTN4_chr19_39200116_+_CATSPERG_chr19_38848918_length(amino acids)=965AA_start in transcript=76_stop in transcript=2973
MVDYHAANQSYQYGPSSAGNGAGGGGSMGDYMAQEDDWDRDLLLDPAWEKQQRKTFTAWCNSHLRKAGTQIENIDEDFRDGLKLMLLLEV
ISGERLPKPERGKMRVHKINNVNKALDFIASKGVKLVSIGAEEIVDGNAKMTLGMIWTIILRFAIQDISVEETSAKEGLLLWCQRKTAPY
KNVNVQNFHISWKDGLAFNALIHRHRPELIEYDKLRKDDPVTNLNNAFEVAEKYLDIPKMLDAEASDDLELLYHIPEFIPEARGLEFLMI
LGTESYTSTAMAPKGIFCNPYNNLIFIWGNFLLQSSNKENFIYLADFPKELSIKYMARSFRGAVAIVTETEEIWYLLEGSYRVYQLFPSK
GWQVHISLKLMQQSSLYASNETMLTLFYEDSKLYQLVYLMNNQKGQLVKRLVPVEQLLMYQQHTSHYDLERKGGYLMLSFIDFCPFSVMR
LRSLPSPQRYTRQERYRARPPRVLERSGFHNENSLAIYQGLVYYLLWLHSVYDKPYADPVHDPTWRWWANNKQDQDYYFFLASNWRSAGG
VSIEMDSYEKIYNLESAYELPERIFLDKGTEYSFAIFLSAQGHSFRTQSELGTAFQLHSQVDVGVVLADPGCIEASVKQEVLINRNSVLF
SITLKDKKLCYDQGISGHHLMETSMTVNVVGSSGLCFQETHLGPHMQGNLMVPVFIGCPPGKRLAFDITYTLEYSRLKNKHYFDCVNVNP
EMPCFLFRDIFYPFFLIQDLVTGDSGSFQGSYVLLVVGGGPTLDSLKDYSEDEIYRFNSPLDKTNSLIWTTRTTRTTKDSAFHIMSHESP
GIEWLCLENAPCYDNVPQGIFAPEFFFKVLVSNRGVDTSTYCNYQLTFLLHIHGLPLSPKRALFIIMVSASVFVGLVIFYIAFCLLWPLV

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>In-frame_ENST00000252699_ENST00000410018_TCGA-22-1005-01A_ACTN4_chr19_39200116_+_CATSPERG_chr19_38848918_length(transcript)=3125nt_BP=809nt
GCGGCGGCGGCTCGGGCAGAGGGGCGGGAGCTGAGGCGGGAGCGGACAGGCTGGTGGGCGAGCGAGAGGCGGCGGAATGGTGGACTACCA
CGCGGCGAACCAGTCGTACCAGTACGGCCCCAGCAGCGCGGGCAATGGCGCTGGCGGCGGGGGCAGCATGGGCGACTACATGGCCCAGGA
GGACGACTGGGACCGGGACCTGCTGCTGGACCCGGCCTGGGAGAAGCAGCAGCGCAAGACCTTCACGGCATGGTGCAACTCCCACCTGCG
GAAGGCAGGCACACAGATCGAGAACATTGATGAGGACTTCCGAGACGGGCTCAAGCTCATGCTGCTCCTGGAGGTCATATCAGGGGAGCG
GTTACCTAAGCCGGAGCGGGGGAAGATGAGAGTGCACAAAATCAACAATGTGAACAAAGCGCTGGACTTTATTGCCAGCAAAGGCGTCAA
GCTGGTCTCCATCGGGGCAGAAGAGATTGTGGACGGCAACGCAAAGATGACCCTGGGAATGATCTGGACCATCATCCTTAGGTTCGCCAT
CCAGGACATCTCCGTGGAAGAGACCTCGGCCAAGGAAGGGCTCCTTCTCTGGTGCCAGAGAAAGACAGCCCCGTATAAGAACGTCAATGT
GCAGAACTTCCACATCAGCTGGAAGGATGGTCTTGCCTTCAATGCCCTGATCCACCGGCACAGACCAGAGCTGATTGAGTATGACAAGCT
GAGGAAGGACGACCCTGTCACCAACCTGAACAATGCCTTCGAAGTGGCTGAGAAATACCTCGACATCCCCAAGATGCTGGATGCAGAGGC
TAGTGATGACCTGGAACTTCTCTACCACATCCCAGAATTCATCCCTGAAGCTCGAGGATTGGAGTTCCTGATGATCCTAGGGACAGAGTC
CTACACCAGCACTGCAATGGCCCCCAAGGGCATCTTCTGTAACCCGTACAACAATCTGATCTTCATCTGGGGCAACTTCCTCCTGCAGAG
CTCTAACAAGGAAAACTTCATCTACCTGGCAGACTTCCCCAAGGAACTGTCCATCAAATACATGGCCAGATCGTTCCGTGGGGCTGTGGC
TATTGTCACAGAGACGGAGGAGATCTGGTACCTCCTGGAGGGCAGCTACCGGGTCTACCAGCTGTTCCCTTCCAAGGGCTGGCAGGTGCA
CATCAGCTTAAAGCTGATGCAACAGTCCTCTCTCTACGCATCCAATGAGACCATGCTGACCCTCTTCTACGAAGACAGCAAACTGTACCA
GCTGGTGTACCTTATGAACAACCAGAAGGGCCAGCTGGTCAAGAGGCTCGTGCCCGTGGAGCAGCTTCTGATGTATCAACAGCACACCAG
CCACTATGACTTGGAGCGGAAAGGGGGCTACTTGATGCTCTCCTTCATCGACTTCTGCCCCTTCTCGGTGATGCGCCTGCGGAGCCTGCC
CAGTCCGCAGAGATACACGCGCCAGGAGCGCTACCGGGCGCGGCCGCCGCGCGTCCTGGAGCGCTCGGGCTTCCACAACGAGAACTCGCT
CGCCATCTACCAGGGCCTGGTCTACTACCTGCTGTGGCTGCACTCCGTGTACGACAAGCCGTACGCGGACCCGGTGCACGACCCCACCTG
GCGCTGGTGGGCGAACAACAAACAAGACCAGGATTACTACTTCTTCTTGGCGAGCAATTGGCGAAGCGCGGGCGGCGTGTCCATAGAAAT
GGACAGCTACGAAAAGATCTACAACCTCGAGTCCGCGTACGAGCTGCCGGAGCGCATTTTCCTGGACAAGGGCACTGAGTACAGCTTCGC
CATCTTCCTGTCGGCGCAGGGCCACTCGTTCCGGACGCAGTCAGAACTCGGCACCGCCTTCCAGCTGCATAGCCAGGTGGACGTGGGCGT
GGTGCTGGCCGACCCCGGCTGCATCGAGGCCTCGGTGAAGCAGGAGGTCCTGATTAATCGCAACTCGGTGCTATTTTCGATTACGCTCAA
GGATAAAAAGCTTTGCTATGACCAAGGCATTAGTGGACATCACCTTATGGAGACTTCCATGACGGTCAATGTGGTGGGTTCATCCGGGCT
CTGCTTCCAGGAAACACACCTGGGGCCCCATATGCAAGGCAACCTGATGGTGCCAGTGTTCATTGGCTGCCCCCCAGGCAAGCGCCTGGC
CTTCGACATCACCTACACGCTGGAATACAGCCGCCTGAAGAACAAACACTACTTTGACTGCGTTAACGTGAACCCGGAGATGCCCTGCTT
TCTCTTCCGGGACATTTTCTACCCCTTCTTCTTGATTCAAGATTTGGTGACAGGAGACTCCGGCAGTTTCCAGGGCAGCTATGTTCTGCT
GGTGGTGGGTGGCGGGCCCACACTGGACAGCCTCAAGGACTACAGTGAGGACGAAATCTACCGCTTCAACAGCCCCCTGGACAAGACCAA
CAGCCTTATCTGGACCACGAGGACCACAAGGACCACCAAAGACTCAGCCTTTCACATCATGTCCCACGAGAGCCCAGGCATCGAGTGGCT
CTGTCTGGAGAATGCCCCATGCTATGACAATGTTCCCCAAGGCATCTTTGCCCCTGAATTCTTCTTCAAGGTGTTGGTGAGCAATAGAGG
AGTGGACACGAGCACCTACTGCAACTACCAGCTCACCTTCCTGCTGCACATCCACGGGCTGCCACTCAGTCCCAAGCGGGCCCTTTTCAT
CATCATGGTGTCAGCTAGCGTGTTTGTGGGCCTGGTGATCTTCTACATCGCCTTCTGCCTCCTGTGGCCCCTCGTGGTGAAGGGCTGCAC
GATGATCCGGTGGAAGATAAACAACCTCATTGCCTCAGAATCCTACTACACCTACGCCTCCATTTCCGGAATCTCGAGCATGCCGTCTCT
GAGACATTCCAGGATGGGCTCCATGTTCAGCTCCAGGATGACAGAGGACAGGGCTGAACCCAAGGAAGCCGTGGAGAGACAGTTGATGAC
CTGAGTGTCCCACCTGCCCCAGCCCCCAGTTACTGTCACGCCTCTCTTATGAGGCCCATCTTGAAGATGCAACCTGTCACCCAGCCCAGG

>In-frame_ENST00000252699_ENST00000410018_TCGA-22-1005-01A_ACTN4_chr19_39200116_+_CATSPERG_chr19_38848918_length(amino acids)=965AA_start in transcript=76_stop in transcript=2973
MVDYHAANQSYQYGPSSAGNGAGGGGSMGDYMAQEDDWDRDLLLDPAWEKQQRKTFTAWCNSHLRKAGTQIENIDEDFRDGLKLMLLLEV
ISGERLPKPERGKMRVHKINNVNKALDFIASKGVKLVSIGAEEIVDGNAKMTLGMIWTIILRFAIQDISVEETSAKEGLLLWCQRKTAPY
KNVNVQNFHISWKDGLAFNALIHRHRPELIEYDKLRKDDPVTNLNNAFEVAEKYLDIPKMLDAEASDDLELLYHIPEFIPEARGLEFLMI
LGTESYTSTAMAPKGIFCNPYNNLIFIWGNFLLQSSNKENFIYLADFPKELSIKYMARSFRGAVAIVTETEEIWYLLEGSYRVYQLFPSK
GWQVHISLKLMQQSSLYASNETMLTLFYEDSKLYQLVYLMNNQKGQLVKRLVPVEQLLMYQQHTSHYDLERKGGYLMLSFIDFCPFSVMR
LRSLPSPQRYTRQERYRARPPRVLERSGFHNENSLAIYQGLVYYLLWLHSVYDKPYADPVHDPTWRWWANNKQDQDYYFFLASNWRSAGG
VSIEMDSYEKIYNLESAYELPERIFLDKGTEYSFAIFLSAQGHSFRTQSELGTAFQLHSQVDVGVVLADPGCIEASVKQEVLINRNSVLF
SITLKDKKLCYDQGISGHHLMETSMTVNVVGSSGLCFQETHLGPHMQGNLMVPVFIGCPPGKRLAFDITYTLEYSRLKNKHYFDCVNVNP
EMPCFLFRDIFYPFFLIQDLVTGDSGSFQGSYVLLVVGGGPTLDSLKDYSEDEIYRFNSPLDKTNSLIWTTRTTRTTKDSAFHIMSHESP
GIEWLCLENAPCYDNVPQGIFAPEFFFKVLVSNRGVDTSTYCNYQLTFLLHIHGLPLSPKRALFIIMVSASVFVGLVIFYIAFCLLWPLV

--------------------------------------------------------------
>In-frame_ENST00000252699_ENST00000215069_TCGA-22-1005-01A_ACTN4_chr19_39200116_+_CATSPERG_chr19_38848918_length(transcript)=3019nt_BP=809nt
GCGGCGGCGGCTCGGGCAGAGGGGCGGGAGCTGAGGCGGGAGCGGACAGGCTGGTGGGCGAGCGAGAGGCGGCGGAATGGTGGACTACCA
CGCGGCGAACCAGTCGTACCAGTACGGCCCCAGCAGCGCGGGCAATGGCGCTGGCGGCGGGGGCAGCATGGGCGACTACATGGCCCAGGA
GGACGACTGGGACCGGGACCTGCTGCTGGACCCGGCCTGGGAGAAGCAGCAGCGCAAGACCTTCACGGCATGGTGCAACTCCCACCTGCG
GAAGGCAGGCACACAGATCGAGAACATTGATGAGGACTTCCGAGACGGGCTCAAGCTCATGCTGCTCCTGGAGGTCATATCAGGGGAGCG
GTTACCTAAGCCGGAGCGGGGGAAGATGAGAGTGCACAAAATCAACAATGTGAACAAAGCGCTGGACTTTATTGCCAGCAAAGGCGTCAA
GCTGGTCTCCATCGGGGCAGAAGAGATTGTGGACGGCAACGCAAAGATGACCCTGGGAATGATCTGGACCATCATCCTTAGGTTCGCCAT
CCAGGACATCTCCGTGGAAGAGACCTCGGCCAAGGAAGGGCTCCTTCTCTGGTGCCAGAGAAAGACAGCCCCGTATAAGAACGTCAATGT
GCAGAACTTCCACATCAGCTGGAAGGATGGTCTTGCCTTCAATGCCCTGATCCACCGGCACAGACCAGAGCTGATTGAGTATGACAAGCT
GAGGAAGGACGACCCTGTCACCAACCTGAACAATGCCTTCGAAGTGGCTGAGAAATACCTCGACATCCCCAAGATGCTGGATGCAGAGGC
TAGTGATGACCTGGAACTTCTCTACCACATCCCAGAATTCATCCCTGAAGCTCGAGGATTGGAGTTCCTGATGATCCTAGGGACAGAGTC
CTACACCAGCACTGCAATGGCCCCCAAGGGCATCTTCTGTAACCCGTACAACAATCTGATCTTCATCTGGGGCAACTTCCTCCTGCAGAG
ATCTGGTACCTCCTGGAGGGCAGCTACCGGGTCTACCAGCTGTTCCCTTCCAAGGGCTGGCAGGTGCACATCAGCTTAAAGCTGATGCAA
CAGTCCTCTCTCTACGCATCCAATGAGACCATGCTGACCCTCTTCTACGAAGACAGCAAACTGTACCAGCTGGTGTACCTTATGAACAAC
CAGAAGGGCCAGCTGGTCAAGAGGCTCGTGCCCGTGGAGCAGCTTCTGATGTATCAACAGCACACCAGCCACTATGACTTGGAGCGGAAA
GGGGGCTACTTGATGCTCTCCTTCATCGACTTCTGCCCCTTCTCGGTGATGCGCCTGCGGAGCCTGCCCAGTCCGCAGAGATACACGCGC
CAGGAGCGCTACCGGGCGCGGCCGCCGCGCGTCCTGGAGCGCTCGGGCTTCCACAACGAGAACTCGCTCGCCATCTACCAGGGCCTGGTC
TACTACCTGCTGTGGCTGCACTCCGTGTACGACAAGCCGTACGCGGACCCGGTGCACGACCCCACCTGGCGCTGGTGGGCGAACAACAAA
CAAGACCAGGATTACTACTTCTTCTTGGCGAGCAATTGGCGAAGCGCGGGCGGCGTGTCCATAGAAATGGACAGCTACGAAAAGATCTAC
AACCTCGAGTCCGCGTACGAGCTGCCGGAGCGCATTTTCCTGGACAAGGGCACTGAGTACAGCTTCGCCATCTTCCTGTCGGCGCAGGGC
CACTCGTTCCGGACGCAGTCAGAACTCGGCACCGCCTTCCAGCTGCATAGCCAGGTGGACGTGGGCGTGGTGCTGGCCGACCCCGGCTGC
ATCGAGGCCTCGGTGAAGCAGGAGGTCCTGATTAATCGCAACTCGGTGCTATTTTCGATTACGCTCAAGGATAAAAAGCTTTGCTATGAC
CAAGGCATTAGTGGACATCACCTTATGGAGACTTCCATGACGGTCAATGTGGTGGGTTCATCCGGGCTCTGCTTCCAGGAAACACACCTG
GGGCCCCATATGCAAGGCAACCTGATGGTGCCAGTGTTCATTGGCTGCCCCCCAGGCAAGCGCCTGGCCTTCGACATCACCTACACGCTG
GAATACAGCCGCCTGAAGAACAAACACTACTTTGACTGCGTTAACGTGAACCCGGAGATGCCCTGCTTTCTCTTCCGGGACATTTTCTAC
CCCTTCTTCTTGATTCAAGATTTGGTGACAGGAGACTCCGGCAGTTTCCAGGGCAGCTATGTTCTGCTGGTGGTGGGTGGCGGGCCCACA
CTGGACAGCCTCAAGGACTACAGTGAGGACGAAATCTACCGCTTCAACAGCCCCCTGGACAAGACCAACAGCCTTATCTGGACCACGAGG
ACCACAAGGACCACCAAAGACTCAGCCTTTCACATCATGTCCCACGAGAGCCCAGGCATCGAGTGGCTCTGTCTGGAGAATGCCCCATGC
TATGACAATGTTCCCCAAGGCATCTTTGCCCCTGAATTCTTCTTCAAGGTGTTGGTGAGCAATAGAGGAGTGGACACGAGCACCTACTGC
AACTACCAGCTCACCTTCCTGCTGCACATCCACGGGCTGCCACTCAGTCCCAAGCGGGCCCTTTTCATCATCATGGTGTCAGCTAGCGTG
TTTGTGGGCCTGGTGATCTTCTACATCGCCTTCTGCCTCCTGTGGCCCCTCGTGGTGAAGGGCTGCACGATGATCCGGTGGAAGATAAAC
AACCTCATTGCCTCAGAATCCTACTACACCTACGCCTCCATTTCCGGAATCTCGAGCATGCCGTCTCTGAGACATTCCAGGATGGGCTCC
ATGTTCAGCTCCAGGATGACAGAGGACAGGGCTGAACCCAAGGAAGCCGTGGAGAGACAGTTGATGACCTGAGTGTCCCACCTGCCCCAG
CCCCCAGTTACTGTCACGCCTCTCTTATGAGGCCCATCTTGAAGATGCAACCTGTCACCCAGCCCAGGCCTCTCTTTCTGTTTTGCTTGA

>In-frame_ENST00000252699_ENST00000215069_TCGA-22-1005-01A_ACTN4_chr19_39200116_+_CATSPERG_chr19_38848918_length(amino acids)=631AA_start in transcript=966_stop in transcript=2861
MGQLPPAEIWYLLEGSYRVYQLFPSKGWQVHISLKLMQQSSLYASNETMLTLFYEDSKLYQLVYLMNNQKGQLVKRLVPVEQLLMYQQHT
SHYDLERKGGYLMLSFIDFCPFSVMRLRSLPSPQRYTRQERYRARPPRVLERSGFHNENSLAIYQGLVYYLLWLHSVYDKPYADPVHDPT
WRWWANNKQDQDYYFFLASNWRSAGGVSIEMDSYEKIYNLESAYELPERIFLDKGTEYSFAIFLSAQGHSFRTQSELGTAFQLHSQVDVG
VVLADPGCIEASVKQEVLINRNSVLFSITLKDKKLCYDQGISGHHLMETSMTVNVVGSSGLCFQETHLGPHMQGNLMVPVFIGCPPGKRL
AFDITYTLEYSRLKNKHYFDCVNVNPEMPCFLFRDIFYPFFLIQDLVTGDSGSFQGSYVLLVVGGGPTLDSLKDYSEDEIYRFNSPLDKT
NSLIWTTRTTRTTKDSAFHIMSHESPGIEWLCLENAPCYDNVPQGIFAPEFFFKVLVSNRGVDTSTYCNYQLTFLLHIHGLPLSPKRALF
IIMVSASVFVGLVIFYIAFCLLWPLVVKGCTMIRWKINNLIASESYYTYASISGISSMPSLRHSRMGSMFSSRMTEDRAEPKEAVERQLM

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

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Fusion Gene PPI Analysis for ACTN4-CATSPERG


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page.


check button Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with
HgeneACTN4chr19:39200116chr19:38848918ENST00000252699+721108_126244.33333333333334912.0VCL
HgeneACTN4chr19:39200116chr19:38848918ENST00000252699+72112_26244.33333333333334912.0VCL
HgeneACTN4chr19:39200116chr19:38848918ENST00000252699+72140_61244.33333333333334912.0VCL


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with
HgeneACTN4chr19:39200116chr19:38848918ENST00000390009+114108_1260693.0VCL
HgeneACTN4chr19:39200116chr19:38848918ENST00000390009+11412_260693.0VCL
HgeneACTN4chr19:39200116chr19:38848918ENST00000390009+11440_610693.0VCL


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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Related Drugs for ACTN4-CATSPERG


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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Related Diseases for ACTN4-CATSPERG


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneACTN4C4551527Focal segmental glomerulosclerosis 19GENOMICS_ENGLAND;UNIPROT
HgeneACTN4C0007097Carcinoma1CTD_human
HgeneACTN4C0019193Hepatitis, Toxic1CTD_human
HgeneACTN4C0024667Animal Mammary Neoplasms1CTD_human
HgeneACTN4C0024668Mammary Neoplasms, Experimental1CTD_human
HgeneACTN4C0205696Anaplastic carcinoma1CTD_human
HgeneACTN4C0205697Carcinoma, Spindle-Cell1CTD_human
HgeneACTN4C0205698Undifferentiated carcinoma1CTD_human
HgeneACTN4C0205699Carcinomatosis1CTD_human
HgeneACTN4C0860207Drug-Induced Liver Disease1CTD_human
HgeneACTN4C1257925Mammary Carcinoma, Animal1CTD_human
HgeneACTN4C1262760Hepatitis, Drug-Induced1CTD_human
HgeneACTN4C1868672NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE1ORPHANET
HgeneACTN4C3658290Drug-Induced Acute Liver Injury1CTD_human
HgeneACTN4C4277682Chemical and Drug Induced Liver Injury1CTD_human
HgeneACTN4C4279912Chemically-Induced Liver Toxicity1CTD_human