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in Kim Lab

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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:ACTG2-ACTA2 (FusionGDB2 ID:HG72TG59)

Fusion Gene Summary for ACTG2-ACTA2

check button Fusion gene summary
Fusion gene informationFusion gene name: ACTG2-ACTA2
Fusion gene ID: hg72tg59
HgeneTgene
Gene symbol

ACTG2

ACTA2

Gene ID

72

59

Gene nameactin gamma 2, smooth muscleactin alpha 2, smooth muscle
SynonymsACT|ACTA3|ACTE|ACTL3|ACTSG|VSCMACTSA
Cytomap('ACTG2')('ACTA2')

2p13.1

10q23.31

Type of geneprotein-codingprotein-coding
Descriptionactin, gamma-enteric smooth muscleactin, gamma 2, smooth muscle, entericactin-like proteinalpha-actin-3actin, aortic smooth muscleactin, alpha 2, smooth muscle, aortaalpha-cardiac actincell growth-inhibiting gene 46 protein
Modification date2020031320200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000345517, ENST00000409624, 
ENST00000409731, ENST00000409918, 
Fusion gene scores* DoF score9 X 11 X 5=4959 X 11 X 5=495
# samples 1212
** MAII scorelog2(12/495*10)=-2.04439411935845
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(12/495*10)=-2.04439411935845
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ACTG2 [Title/Abstract] AND ACTA2 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointACTG2(74128564)-ACTA2(90707143), # 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

check buttonFusion gene breakpoints across ACTG2 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure
check buttonFusion gene breakpoints across ACTA2 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

check button Fusion gene information
* 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
ChimerDB4Non-CancerTCGA-FP-7735-11AACTG2chr2

74128564

+ACTA2chr10

90707143

-
ChimerDB4Non-CancerTCGA-HU-A4GC-11AACTG2chr2

74128564

+ACTA2chr10

90707143

-


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Fusion Gene ORF analysis for ACTG2-ACTA2

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
5CDS-5UTRENST00000345517ENST00000480297ACTG2chr2

74128564

+ACTA2chr10

90707143

-
5CDS-5UTRENST00000409624ENST00000480297ACTG2chr2

74128564

+ACTA2chr10

90707143

-
5CDS-5UTRENST00000409731ENST00000480297ACTG2chr2

74128564

+ACTA2chr10

90707143

-
5CDS-5UTRENST00000409918ENST00000480297ACTG2chr2

74128564

+ACTA2chr10

90707143

-
In-frameENST00000345517ENST00000224784ACTG2chr2

74128564

+ACTA2chr10

90707143

-
In-frameENST00000345517ENST00000458208ACTG2chr2

74128564

+ACTA2chr10

90707143

-
In-frameENST00000409624ENST00000224784ACTG2chr2

74128564

+ACTA2chr10

90707143

-
In-frameENST00000409624ENST00000458208ACTG2chr2

74128564

+ACTA2chr10

90707143

-
In-frameENST00000409731ENST00000224784ACTG2chr2

74128564

+ACTA2chr10

90707143

-
In-frameENST00000409731ENST00000458208ACTG2chr2

74128564

+ACTA2chr10

90707143

-
In-frameENST00000409918ENST00000224784ACTG2chr2

74128564

+ACTA2chr10

90707143

-
In-frameENST00000409918ENST00000458208ACTG2chr2

74128564

+ACTA2chr10

90707143

-

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)
ENST00000409731ACTG2chr274128564+ENST00000224784ACTA2chr1090707143-1401247161251411
ENST00000409731ACTG2chr274128564+ENST00000458208ACTA2chr1090707143-1399247161251411
ENST00000345517ACTG2chr274128564+ENST00000224784ACTA2chr1090707143-138923541239411
ENST00000345517ACTG2chr274128564+ENST00000458208ACTA2chr1090707143-138723541239411
ENST00000409918ACTG2chr274128564+ENST00000224784ACTA2chr1090707143-138623211236411
ENST00000409918ACTG2chr274128564+ENST00000458208ACTA2chr1090707143-138423211236411
ENST00000409624ACTG2chr274128564+ENST00000224784ACTA2chr1090707143-19237696431773376
ENST00000409624ACTG2chr274128564+ENST00000458208ACTA2chr1090707143-19217696431773376

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
ENST00000409731ENST00000224784ACTG2chr274128564+ACTA2chr1090707143-0.0013593230.9986407
ENST00000409731ENST00000458208ACTG2chr274128564+ACTA2chr1090707143-0.0014029830.99859697
ENST00000345517ENST00000224784ACTG2chr274128564+ACTA2chr1090707143-0.0013357520.99866426
ENST00000345517ENST00000458208ACTG2chr274128564+ACTA2chr1090707143-0.0013737260.99862623
ENST00000409918ENST00000224784ACTG2chr274128564+ACTA2chr1090707143-0.0013831310.9986168
ENST00000409918ENST00000458208ACTG2chr274128564+ACTA2chr1090707143-0.0014231980.99857676
ENST00000409624ENST00000224784ACTG2chr274128564+ACTA2chr1090707143-0.0026278820.99737215
ENST00000409624ENST00000458208ACTG2chr274128564+ACTA2chr1090707143-0.0027101150.9972899

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Fusion Genomic Features for ACTG2-ACTA2


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)

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.
genomic feature

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Fusion Protein Features for ACTG2-ACTA2


check button Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr2:74128564/chr10:90707143)
- 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.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
..
FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.

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

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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Fusion Gene Sequence for ACTG2-ACTA2


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.
>1721_1721_1_ACTG2-ACTA2_ACTG2_chr2_74128564_ENST00000345517_ACTA2_chr10_90707143_ENST00000224784_length(transcript)=1389nt_BP=235nt
TATATTGCTCTGGTATTCATGCCAAAGACACACCAGCCCTCAGTCACTGGGAGAAGAACCTCTCATACCCTCGGTGCTCCAGTCCCCAGC
TCACTCAGCCACACACACCATGTGTGAAGAGGAGACCACCGCGCTCGTGTGTGACAATGGCTCTGGCCTGTGCAAGGCAGGCTTCGCAGG
AGATGATGCCCCCCGGGCTGTCTTCCCCTCCATTGTGGGCCGCCCTCGCCACCAGGGGGTGATGGTGGGAATGGGACAAAAAGACAGCTA
CGTGGGTGACGAAGCACAGAGCAAAAGAGGAATCCTGACCCTGAAGTACCCGATAGAACATGGCATCATCACCAACTGGGACGACATGGA
AAAGATCTGGCACCACTCTTTCTACAATGAGCTTCGTGTTGCCCCTGAAGAGCATCCCACCCTGCTCACGGAGGCACCCCTGAACCCCAA
GGCCAACCGGGAGAAAATGACTCAAATTATGTTTGAGACTTTCAATGTCCCAGCCATGTATGTGGCTATCCAGGCGGTGCTGTCTCTCTA
TGCCTCTGGACGCACAACTGGCATCGTGCTGGACTCTGGAGATGGTGTCACCCACAATGTCCCCATCTATGAGGGCTATGCCTTGCCCCA
TGCCATCATGCGTCTGGATCTGGCTGGCCGAGATCTCACTGACTACCTCATGAAGATCCTGACTGAGCGTGGCTATTCCTTCGTTACTAC
TGCTGAGCGTGAGATTGTCCGGGACATCAAGGAGAAACTGTGTTATGTAGCTCTGGACTTTGAAAATGAGATGGCCACTGCCGCATCCTC
ATCCTCCCTTGAGAAGAGTTACGAGTTGCCTGATGGGCAAGTGATCACCATCGGAAATGAACGTTTCCGCTGCCCAGAGACCCTGTTCCA
GCCATCCTTCATCGGGATGGAGTCTGCTGGCATCCATGAAACCACCTACAACAGCATCATGAAGTGTGATATTGACATCAGGAAGGACCT
CTATGCTAACAATGTCCTATCAGGGGGCACCACTATGTACCCTGGCATTGCCGACCGAATGCAGAAGGAGATCACGGCCCTAGCACCCAG
CACCATGAAGATCAAGATCATTGCCCCTCCGGAGCGCAAATACTCTGTCTGGATCGGTGGCTCCATCCTGGCCTCTCTGTCCACCTTCCA
GCAGATGTGGATCAGCAAACAGGAATACGATGAAGCCGGGCCTTCCATTGTCCACCGCAAATGCTTCTAAAACACTTTCCTGCTCCTCTC
TGTCTCTAGCACACAACTGTGAATGTCCTGTGGAATTATGCCTTCAGTTCTTTTCCAAATCATTCCTAGCCAAAGCTCTGACTCGTTACC

>1721_1721_1_ACTG2-ACTA2_ACTG2_chr2_74128564_ENST00000345517_ACTA2_chr10_90707143_ENST00000224784_length(amino acids)=411AA_BP=37
MLWYSCQRHTSPQSLGEEPLIPSVLQSPAHSATHTMCEEETTALVCDNGSGLCKAGFAGDDAPRAVFPSIVGRPRHQGVMVGMGQKDSYV
GDEAQSKRGILTLKYPIEHGIITNWDDMEKIWHHSFYNELRVAPEEHPTLLTEAPLNPKANREKMTQIMFETFNVPAMYVAIQAVLSLYA
SGRTTGIVLDSGDGVTHNVPIYEGYALPHAIMRLDLAGRDLTDYLMKILTERGYSFVTTAEREIVRDIKEKLCYVALDFENEMATAASSS
SLEKSYELPDGQVITIGNERFRCPETLFQPSFIGMESAGIHETTYNSIMKCDIDIRKDLYANNVLSGGTTMYPGIADRMQKEITALAPST

--------------------------------------------------------------
>1721_1721_2_ACTG2-ACTA2_ACTG2_chr2_74128564_ENST00000345517_ACTA2_chr10_90707143_ENST00000458208_length(transcript)=1387nt_BP=235nt
TATATTGCTCTGGTATTCATGCCAAAGACACACCAGCCCTCAGTCACTGGGAGAAGAACCTCTCATACCCTCGGTGCTCCAGTCCCCAGC
TCACTCAGCCACACACACCATGTGTGAAGAGGAGACCACCGCGCTCGTGTGTGACAATGGCTCTGGCCTGTGCAAGGCAGGCTTCGCAGG
AGATGATGCCCCCCGGGCTGTCTTCCCCTCCATTGTGGGCCGCCCTCGCCACCAGGGGGTGATGGTGGGAATGGGACAAAAAGACAGCTA
CGTGGGTGACGAAGCACAGAGCAAAAGAGGAATCCTGACCCTGAAGTACCCGATAGAACATGGCATCATCACCAACTGGGACGACATGGA
AAAGATCTGGCACCACTCTTTCTACAATGAGCTTCGTGTTGCCCCTGAAGAGCATCCCACCCTGCTCACGGAGGCACCCCTGAACCCCAA
GGCCAACCGGGAGAAAATGACTCAAATTATGTTTGAGACTTTCAATGTCCCAGCCATGTATGTGGCTATCCAGGCGGTGCTGTCTCTCTA
TGCCTCTGGACGCACAACTGGCATCGTGCTGGACTCTGGAGATGGTGTCACCCACAATGTCCCCATCTATGAGGGCTATGCCTTGCCCCA
TGCCATCATGCGTCTGGATCTGGCTGGCCGAGATCTCACTGACTACCTCATGAAGATCCTGACTGAGCGTGGCTATTCCTTCGTTACTAC
TGCTGAGCGTGAGATTGTCCGGGACATCAAGGAGAAACTGTGTTATGTAGCTCTGGACTTTGAAAATGAGATGGCCACTGCCGCATCCTC
ATCCTCCCTTGAGAAGAGTTACGAGTTGCCTGATGGGCAAGTGATCACCATCGGAAATGAACGTTTCCGCTGCCCAGAGACCCTGTTCCA
GCCATCCTTCATCGGGATGGAGTCTGCTGGCATCCATGAAACCACCTACAACAGCATCATGAAGTGTGATATTGACATCAGGAAGGACCT
CTATGCTAACAATGTCCTATCAGGGGGCACCACTATGTACCCTGGCATTGCCGACCGAATGCAGAAGGAGATCACGGCCCTAGCACCCAG
CACCATGAAGATCAAGATCATTGCCCCTCCGGAGCGCAAATACTCTGTCTGGATCGGTGGCTCCATCCTGGCCTCTCTGTCCACCTTCCA
GCAGATGTGGATCAGCAAACAGGAATACGATGAAGCCGGGCCTTCCATTGTCCACCGCAAATGCTTCTAAAACACTTTCCTGCTCCTCTC
TGTCTCTAGCACACAACTGTGAATGTCCTGTGGAATTATGCCTTCAGTTCTTTTCCAAATCATTCCTAGCCAAAGCTCTGACTCGTTACC

>1721_1721_2_ACTG2-ACTA2_ACTG2_chr2_74128564_ENST00000345517_ACTA2_chr10_90707143_ENST00000458208_length(amino acids)=411AA_BP=37
MLWYSCQRHTSPQSLGEEPLIPSVLQSPAHSATHTMCEEETTALVCDNGSGLCKAGFAGDDAPRAVFPSIVGRPRHQGVMVGMGQKDSYV
GDEAQSKRGILTLKYPIEHGIITNWDDMEKIWHHSFYNELRVAPEEHPTLLTEAPLNPKANREKMTQIMFETFNVPAMYVAIQAVLSLYA
SGRTTGIVLDSGDGVTHNVPIYEGYALPHAIMRLDLAGRDLTDYLMKILTERGYSFVTTAEREIVRDIKEKLCYVALDFENEMATAASSS
SLEKSYELPDGQVITIGNERFRCPETLFQPSFIGMESAGIHETTYNSIMKCDIDIRKDLYANNVLSGGTTMYPGIADRMQKEITALAPST

--------------------------------------------------------------
>1721_1721_3_ACTG2-ACTA2_ACTG2_chr2_74128564_ENST00000409624_ACTA2_chr10_90707143_ENST00000224784_length(transcript)=1923nt_BP=769nt
ACACCAGCCCTCAGTCACTGGGAGAAGAACCTCTCATACCCTCGGGGAATAAAAGCTTCATTCCTGAGTCAGTGAGAGCTTCAATGAAGC
CCAGATGTCATTCGTGCTGAAAGAACCAGAACAACTCTCTGCTCCCTGCCAAGCATGAAGCGGTTGTGACCCCAGGAAACCACAGTGACT
TTGACTCTGGTTCAGCTGACATGCTCGAGTCTAGCCACAAATTACCAGAAAGCAGCTGAGGAAAGTTTAGAATTTCTCCTGGCAGAGATG
GTCCACGAGTCTGGCTCCAGGGTGAACCCCTTCTTCCCAGAGCAGCACGGGGCCCTTTGGAGGCTCGACTCCGCCAGCCCTCCCACTGCC
TTCCCCCTGCCTTCCCCACCCTCACTTCGGTTGAGTTTTGCCTTCAAAATAGCAGACTCCAAGCCACCTGAAGGGCTGCAGAACAGCGTT
GTTGACAGCTTCAAGTCGCCTTGTGGCTTCTCTGAGCTGCTGCTGTGCTTTGGAAACAAAATTCCAGGCTCTCCCTCTTTCTGTGTGTGG
GAAACACCGGAGAGAGTTTGGGGAGGGAGACAAAAGGGCCCATTGAAAACCCAGACAGGCTTGAACTGTGCTCCAGTCCCCAGCTCACTC
AGCCACACACACCATGTGTGAAGAGGAGACCACCGCGCTCGTGTGTGACAATGGCTCTGGCCTGTGCAAGGCAGGCTTCGCAGGAGATGA
TGCCCCCCGGGCTGTCTTCCCCTCCATTGTGGGCCGCCCTCGCCACCAGGGGGTGATGGTGGGAATGGGACAAAAAGACAGCTACGTGGG
TGACGAAGCACAGAGCAAAAGAGGAATCCTGACCCTGAAGTACCCGATAGAACATGGCATCATCACCAACTGGGACGACATGGAAAAGAT
CTGGCACCACTCTTTCTACAATGAGCTTCGTGTTGCCCCTGAAGAGCATCCCACCCTGCTCACGGAGGCACCCCTGAACCCCAAGGCCAA
CCGGGAGAAAATGACTCAAATTATGTTTGAGACTTTCAATGTCCCAGCCATGTATGTGGCTATCCAGGCGGTGCTGTCTCTCTATGCCTC
TGGACGCACAACTGGCATCGTGCTGGACTCTGGAGATGGTGTCACCCACAATGTCCCCATCTATGAGGGCTATGCCTTGCCCCATGCCAT
CATGCGTCTGGATCTGGCTGGCCGAGATCTCACTGACTACCTCATGAAGATCCTGACTGAGCGTGGCTATTCCTTCGTTACTACTGCTGA
GCGTGAGATTGTCCGGGACATCAAGGAGAAACTGTGTTATGTAGCTCTGGACTTTGAAAATGAGATGGCCACTGCCGCATCCTCATCCTC
CCTTGAGAAGAGTTACGAGTTGCCTGATGGGCAAGTGATCACCATCGGAAATGAACGTTTCCGCTGCCCAGAGACCCTGTTCCAGCCATC
CTTCATCGGGATGGAGTCTGCTGGCATCCATGAAACCACCTACAACAGCATCATGAAGTGTGATATTGACATCAGGAAGGACCTCTATGC
TAACAATGTCCTATCAGGGGGCACCACTATGTACCCTGGCATTGCCGACCGAATGCAGAAGGAGATCACGGCCCTAGCACCCAGCACCAT
GAAGATCAAGATCATTGCCCCTCCGGAGCGCAAATACTCTGTCTGGATCGGTGGCTCCATCCTGGCCTCTCTGTCCACCTTCCAGCAGAT
GTGGATCAGCAAACAGGAATACGATGAAGCCGGGCCTTCCATTGTCCACCGCAAATGCTTCTAAAACACTTTCCTGCTCCTCTCTGTCTC
TAGCACACAACTGTGAATGTCCTGTGGAATTATGCCTTCAGTTCTTTTCCAAATCATTCCTAGCCAAAGCTCTGACTCGTTACCTATGTG

>1721_1721_3_ACTG2-ACTA2_ACTG2_chr2_74128564_ENST00000409624_ACTA2_chr10_90707143_ENST00000224784_length(amino acids)=376AA_BP=2
MCEEETTALVCDNGSGLCKAGFAGDDAPRAVFPSIVGRPRHQGVMVGMGQKDSYVGDEAQSKRGILTLKYPIEHGIITNWDDMEKIWHHS
FYNELRVAPEEHPTLLTEAPLNPKANREKMTQIMFETFNVPAMYVAIQAVLSLYASGRTTGIVLDSGDGVTHNVPIYEGYALPHAIMRLD
LAGRDLTDYLMKILTERGYSFVTTAEREIVRDIKEKLCYVALDFENEMATAASSSSLEKSYELPDGQVITIGNERFRCPETLFQPSFIGM
ESAGIHETTYNSIMKCDIDIRKDLYANNVLSGGTTMYPGIADRMQKEITALAPSTMKIKIIAPPERKYSVWIGGSILASLSTFQQMWISK

--------------------------------------------------------------
>1721_1721_4_ACTG2-ACTA2_ACTG2_chr2_74128564_ENST00000409624_ACTA2_chr10_90707143_ENST00000458208_length(transcript)=1921nt_BP=769nt
ACACCAGCCCTCAGTCACTGGGAGAAGAACCTCTCATACCCTCGGGGAATAAAAGCTTCATTCCTGAGTCAGTGAGAGCTTCAATGAAGC
CCAGATGTCATTCGTGCTGAAAGAACCAGAACAACTCTCTGCTCCCTGCCAAGCATGAAGCGGTTGTGACCCCAGGAAACCACAGTGACT
TTGACTCTGGTTCAGCTGACATGCTCGAGTCTAGCCACAAATTACCAGAAAGCAGCTGAGGAAAGTTTAGAATTTCTCCTGGCAGAGATG
GTCCACGAGTCTGGCTCCAGGGTGAACCCCTTCTTCCCAGAGCAGCACGGGGCCCTTTGGAGGCTCGACTCCGCCAGCCCTCCCACTGCC
TTCCCCCTGCCTTCCCCACCCTCACTTCGGTTGAGTTTTGCCTTCAAAATAGCAGACTCCAAGCCACCTGAAGGGCTGCAGAACAGCGTT
GTTGACAGCTTCAAGTCGCCTTGTGGCTTCTCTGAGCTGCTGCTGTGCTTTGGAAACAAAATTCCAGGCTCTCCCTCTTTCTGTGTGTGG
GAAACACCGGAGAGAGTTTGGGGAGGGAGACAAAAGGGCCCATTGAAAACCCAGACAGGCTTGAACTGTGCTCCAGTCCCCAGCTCACTC
AGCCACACACACCATGTGTGAAGAGGAGACCACCGCGCTCGTGTGTGACAATGGCTCTGGCCTGTGCAAGGCAGGCTTCGCAGGAGATGA
TGCCCCCCGGGCTGTCTTCCCCTCCATTGTGGGCCGCCCTCGCCACCAGGGGGTGATGGTGGGAATGGGACAAAAAGACAGCTACGTGGG
TGACGAAGCACAGAGCAAAAGAGGAATCCTGACCCTGAAGTACCCGATAGAACATGGCATCATCACCAACTGGGACGACATGGAAAAGAT
CTGGCACCACTCTTTCTACAATGAGCTTCGTGTTGCCCCTGAAGAGCATCCCACCCTGCTCACGGAGGCACCCCTGAACCCCAAGGCCAA
CCGGGAGAAAATGACTCAAATTATGTTTGAGACTTTCAATGTCCCAGCCATGTATGTGGCTATCCAGGCGGTGCTGTCTCTCTATGCCTC
TGGACGCACAACTGGCATCGTGCTGGACTCTGGAGATGGTGTCACCCACAATGTCCCCATCTATGAGGGCTATGCCTTGCCCCATGCCAT
CATGCGTCTGGATCTGGCTGGCCGAGATCTCACTGACTACCTCATGAAGATCCTGACTGAGCGTGGCTATTCCTTCGTTACTACTGCTGA
GCGTGAGATTGTCCGGGACATCAAGGAGAAACTGTGTTATGTAGCTCTGGACTTTGAAAATGAGATGGCCACTGCCGCATCCTCATCCTC
CCTTGAGAAGAGTTACGAGTTGCCTGATGGGCAAGTGATCACCATCGGAAATGAACGTTTCCGCTGCCCAGAGACCCTGTTCCAGCCATC
CTTCATCGGGATGGAGTCTGCTGGCATCCATGAAACCACCTACAACAGCATCATGAAGTGTGATATTGACATCAGGAAGGACCTCTATGC
TAACAATGTCCTATCAGGGGGCACCACTATGTACCCTGGCATTGCCGACCGAATGCAGAAGGAGATCACGGCCCTAGCACCCAGCACCAT
GAAGATCAAGATCATTGCCCCTCCGGAGCGCAAATACTCTGTCTGGATCGGTGGCTCCATCCTGGCCTCTCTGTCCACCTTCCAGCAGAT
GTGGATCAGCAAACAGGAATACGATGAAGCCGGGCCTTCCATTGTCCACCGCAAATGCTTCTAAAACACTTTCCTGCTCCTCTCTGTCTC
TAGCACACAACTGTGAATGTCCTGTGGAATTATGCCTTCAGTTCTTTTCCAAATCATTCCTAGCCAAAGCTCTGACTCGTTACCTATGTG

>1721_1721_4_ACTG2-ACTA2_ACTG2_chr2_74128564_ENST00000409624_ACTA2_chr10_90707143_ENST00000458208_length(amino acids)=376AA_BP=2
MCEEETTALVCDNGSGLCKAGFAGDDAPRAVFPSIVGRPRHQGVMVGMGQKDSYVGDEAQSKRGILTLKYPIEHGIITNWDDMEKIWHHS
FYNELRVAPEEHPTLLTEAPLNPKANREKMTQIMFETFNVPAMYVAIQAVLSLYASGRTTGIVLDSGDGVTHNVPIYEGYALPHAIMRLD
LAGRDLTDYLMKILTERGYSFVTTAEREIVRDIKEKLCYVALDFENEMATAASSSSLEKSYELPDGQVITIGNERFRCPETLFQPSFIGM
ESAGIHETTYNSIMKCDIDIRKDLYANNVLSGGTTMYPGIADRMQKEITALAPSTMKIKIIAPPERKYSVWIGGSILASLSTFQQMWISK

--------------------------------------------------------------
>1721_1721_5_ACTG2-ACTA2_ACTG2_chr2_74128564_ENST00000409731_ACTA2_chr10_90707143_ENST00000224784_length(transcript)=1401nt_BP=247nt
CCTCTGGGGTTTTATATTGCTCTGGTATTCATGCCAAAGACACACCAGCCCTCAGTCACTGGGAGAAGAACCTCTCATACCCTCGGTGCT
CCAGTCCCCAGCTCACTCAGCCACACACACCATGTGTGAAGAGGAGACCACCGCGCTCGTGTGTGACAATGGCTCTGGCCTGTGCAAGGC
AGGCTTCGCAGGAGATGATGCCCCCCGGGCTGTCTTCCCCTCCATTGTGGGCCGCCCTCGCCACCAGGGGGTGATGGTGGGAATGGGACA
AAAAGACAGCTACGTGGGTGACGAAGCACAGAGCAAAAGAGGAATCCTGACCCTGAAGTACCCGATAGAACATGGCATCATCACCAACTG
GGACGACATGGAAAAGATCTGGCACCACTCTTTCTACAATGAGCTTCGTGTTGCCCCTGAAGAGCATCCCACCCTGCTCACGGAGGCACC
CCTGAACCCCAAGGCCAACCGGGAGAAAATGACTCAAATTATGTTTGAGACTTTCAATGTCCCAGCCATGTATGTGGCTATCCAGGCGGT
GCTGTCTCTCTATGCCTCTGGACGCACAACTGGCATCGTGCTGGACTCTGGAGATGGTGTCACCCACAATGTCCCCATCTATGAGGGCTA
TGCCTTGCCCCATGCCATCATGCGTCTGGATCTGGCTGGCCGAGATCTCACTGACTACCTCATGAAGATCCTGACTGAGCGTGGCTATTC
CTTCGTTACTACTGCTGAGCGTGAGATTGTCCGGGACATCAAGGAGAAACTGTGTTATGTAGCTCTGGACTTTGAAAATGAGATGGCCAC
TGCCGCATCCTCATCCTCCCTTGAGAAGAGTTACGAGTTGCCTGATGGGCAAGTGATCACCATCGGAAATGAACGTTTCCGCTGCCCAGA
GACCCTGTTCCAGCCATCCTTCATCGGGATGGAGTCTGCTGGCATCCATGAAACCACCTACAACAGCATCATGAAGTGTGATATTGACAT
CAGGAAGGACCTCTATGCTAACAATGTCCTATCAGGGGGCACCACTATGTACCCTGGCATTGCCGACCGAATGCAGAAGGAGATCACGGC
CCTAGCACCCAGCACCATGAAGATCAAGATCATTGCCCCTCCGGAGCGCAAATACTCTGTCTGGATCGGTGGCTCCATCCTGGCCTCTCT
GTCCACCTTCCAGCAGATGTGGATCAGCAAACAGGAATACGATGAAGCCGGGCCTTCCATTGTCCACCGCAAATGCTTCTAAAACACTTT
CCTGCTCCTCTCTGTCTCTAGCACACAACTGTGAATGTCCTGTGGAATTATGCCTTCAGTTCTTTTCCAAATCATTCCTAGCCAAAGCTC

>1721_1721_5_ACTG2-ACTA2_ACTG2_chr2_74128564_ENST00000409731_ACTA2_chr10_90707143_ENST00000224784_length(amino acids)=411AA_BP=37
MLWYSCQRHTSPQSLGEEPLIPSVLQSPAHSATHTMCEEETTALVCDNGSGLCKAGFAGDDAPRAVFPSIVGRPRHQGVMVGMGQKDSYV
GDEAQSKRGILTLKYPIEHGIITNWDDMEKIWHHSFYNELRVAPEEHPTLLTEAPLNPKANREKMTQIMFETFNVPAMYVAIQAVLSLYA
SGRTTGIVLDSGDGVTHNVPIYEGYALPHAIMRLDLAGRDLTDYLMKILTERGYSFVTTAEREIVRDIKEKLCYVALDFENEMATAASSS
SLEKSYELPDGQVITIGNERFRCPETLFQPSFIGMESAGIHETTYNSIMKCDIDIRKDLYANNVLSGGTTMYPGIADRMQKEITALAPST

--------------------------------------------------------------
>1721_1721_6_ACTG2-ACTA2_ACTG2_chr2_74128564_ENST00000409731_ACTA2_chr10_90707143_ENST00000458208_length(transcript)=1399nt_BP=247nt
CCTCTGGGGTTTTATATTGCTCTGGTATTCATGCCAAAGACACACCAGCCCTCAGTCACTGGGAGAAGAACCTCTCATACCCTCGGTGCT
CCAGTCCCCAGCTCACTCAGCCACACACACCATGTGTGAAGAGGAGACCACCGCGCTCGTGTGTGACAATGGCTCTGGCCTGTGCAAGGC
AGGCTTCGCAGGAGATGATGCCCCCCGGGCTGTCTTCCCCTCCATTGTGGGCCGCCCTCGCCACCAGGGGGTGATGGTGGGAATGGGACA
AAAAGACAGCTACGTGGGTGACGAAGCACAGAGCAAAAGAGGAATCCTGACCCTGAAGTACCCGATAGAACATGGCATCATCACCAACTG
GGACGACATGGAAAAGATCTGGCACCACTCTTTCTACAATGAGCTTCGTGTTGCCCCTGAAGAGCATCCCACCCTGCTCACGGAGGCACC
CCTGAACCCCAAGGCCAACCGGGAGAAAATGACTCAAATTATGTTTGAGACTTTCAATGTCCCAGCCATGTATGTGGCTATCCAGGCGGT
GCTGTCTCTCTATGCCTCTGGACGCACAACTGGCATCGTGCTGGACTCTGGAGATGGTGTCACCCACAATGTCCCCATCTATGAGGGCTA
TGCCTTGCCCCATGCCATCATGCGTCTGGATCTGGCTGGCCGAGATCTCACTGACTACCTCATGAAGATCCTGACTGAGCGTGGCTATTC
CTTCGTTACTACTGCTGAGCGTGAGATTGTCCGGGACATCAAGGAGAAACTGTGTTATGTAGCTCTGGACTTTGAAAATGAGATGGCCAC
TGCCGCATCCTCATCCTCCCTTGAGAAGAGTTACGAGTTGCCTGATGGGCAAGTGATCACCATCGGAAATGAACGTTTCCGCTGCCCAGA
GACCCTGTTCCAGCCATCCTTCATCGGGATGGAGTCTGCTGGCATCCATGAAACCACCTACAACAGCATCATGAAGTGTGATATTGACAT
CAGGAAGGACCTCTATGCTAACAATGTCCTATCAGGGGGCACCACTATGTACCCTGGCATTGCCGACCGAATGCAGAAGGAGATCACGGC
CCTAGCACCCAGCACCATGAAGATCAAGATCATTGCCCCTCCGGAGCGCAAATACTCTGTCTGGATCGGTGGCTCCATCCTGGCCTCTCT
GTCCACCTTCCAGCAGATGTGGATCAGCAAACAGGAATACGATGAAGCCGGGCCTTCCATTGTCCACCGCAAATGCTTCTAAAACACTTT
CCTGCTCCTCTCTGTCTCTAGCACACAACTGTGAATGTCCTGTGGAATTATGCCTTCAGTTCTTTTCCAAATCATTCCTAGCCAAAGCTC

>1721_1721_6_ACTG2-ACTA2_ACTG2_chr2_74128564_ENST00000409731_ACTA2_chr10_90707143_ENST00000458208_length(amino acids)=411AA_BP=37
MLWYSCQRHTSPQSLGEEPLIPSVLQSPAHSATHTMCEEETTALVCDNGSGLCKAGFAGDDAPRAVFPSIVGRPRHQGVMVGMGQKDSYV
GDEAQSKRGILTLKYPIEHGIITNWDDMEKIWHHSFYNELRVAPEEHPTLLTEAPLNPKANREKMTQIMFETFNVPAMYVAIQAVLSLYA
SGRTTGIVLDSGDGVTHNVPIYEGYALPHAIMRLDLAGRDLTDYLMKILTERGYSFVTTAEREIVRDIKEKLCYVALDFENEMATAASSS
SLEKSYELPDGQVITIGNERFRCPETLFQPSFIGMESAGIHETTYNSIMKCDIDIRKDLYANNVLSGGTTMYPGIADRMQKEITALAPST

--------------------------------------------------------------
>1721_1721_7_ACTG2-ACTA2_ACTG2_chr2_74128564_ENST00000409918_ACTA2_chr10_90707143_ENST00000224784_length(transcript)=1386nt_BP=232nt
ATTGCTCTGGTATTCATGCCAAAGACACACCAGCCCTCAGTCACTGGGAGAAGAACCTCTCATACCCTCGGTGCTCCAGTCCCCAGCTCA
CTCAGCCACACACACCATGTGTGAAGAGGAGACCACCGCGCTCGTGTGTGACAATGGCTCTGGCCTGTGCAAGGCAGGCTTCGCAGGAGA
TGATGCCCCCCGGGCTGTCTTCCCCTCCATTGTGGGCCGCCCTCGCCACCAGGGGGTGATGGTGGGAATGGGACAAAAAGACAGCTACGT
GGGTGACGAAGCACAGAGCAAAAGAGGAATCCTGACCCTGAAGTACCCGATAGAACATGGCATCATCACCAACTGGGACGACATGGAAAA
GATCTGGCACCACTCTTTCTACAATGAGCTTCGTGTTGCCCCTGAAGAGCATCCCACCCTGCTCACGGAGGCACCCCTGAACCCCAAGGC
CAACCGGGAGAAAATGACTCAAATTATGTTTGAGACTTTCAATGTCCCAGCCATGTATGTGGCTATCCAGGCGGTGCTGTCTCTCTATGC
CTCTGGACGCACAACTGGCATCGTGCTGGACTCTGGAGATGGTGTCACCCACAATGTCCCCATCTATGAGGGCTATGCCTTGCCCCATGC
CATCATGCGTCTGGATCTGGCTGGCCGAGATCTCACTGACTACCTCATGAAGATCCTGACTGAGCGTGGCTATTCCTTCGTTACTACTGC
TGAGCGTGAGATTGTCCGGGACATCAAGGAGAAACTGTGTTATGTAGCTCTGGACTTTGAAAATGAGATGGCCACTGCCGCATCCTCATC
CTCCCTTGAGAAGAGTTACGAGTTGCCTGATGGGCAAGTGATCACCATCGGAAATGAACGTTTCCGCTGCCCAGAGACCCTGTTCCAGCC
ATCCTTCATCGGGATGGAGTCTGCTGGCATCCATGAAACCACCTACAACAGCATCATGAAGTGTGATATTGACATCAGGAAGGACCTCTA
TGCTAACAATGTCCTATCAGGGGGCACCACTATGTACCCTGGCATTGCCGACCGAATGCAGAAGGAGATCACGGCCCTAGCACCCAGCAC
CATGAAGATCAAGATCATTGCCCCTCCGGAGCGCAAATACTCTGTCTGGATCGGTGGCTCCATCCTGGCCTCTCTGTCCACCTTCCAGCA
GATGTGGATCAGCAAACAGGAATACGATGAAGCCGGGCCTTCCATTGTCCACCGCAAATGCTTCTAAAACACTTTCCTGCTCCTCTCTGT
CTCTAGCACACAACTGTGAATGTCCTGTGGAATTATGCCTTCAGTTCTTTTCCAAATCATTCCTAGCCAAAGCTCTGACTCGTTACCTAT

>1721_1721_7_ACTG2-ACTA2_ACTG2_chr2_74128564_ENST00000409918_ACTA2_chr10_90707143_ENST00000224784_length(amino acids)=411AA_BP=37
LLWYSCQRHTSPQSLGEEPLIPSVLQSPAHSATHTMCEEETTALVCDNGSGLCKAGFAGDDAPRAVFPSIVGRPRHQGVMVGMGQKDSYV
GDEAQSKRGILTLKYPIEHGIITNWDDMEKIWHHSFYNELRVAPEEHPTLLTEAPLNPKANREKMTQIMFETFNVPAMYVAIQAVLSLYA
SGRTTGIVLDSGDGVTHNVPIYEGYALPHAIMRLDLAGRDLTDYLMKILTERGYSFVTTAEREIVRDIKEKLCYVALDFENEMATAASSS
SLEKSYELPDGQVITIGNERFRCPETLFQPSFIGMESAGIHETTYNSIMKCDIDIRKDLYANNVLSGGTTMYPGIADRMQKEITALAPST

--------------------------------------------------------------
>1721_1721_8_ACTG2-ACTA2_ACTG2_chr2_74128564_ENST00000409918_ACTA2_chr10_90707143_ENST00000458208_length(transcript)=1384nt_BP=232nt
ATTGCTCTGGTATTCATGCCAAAGACACACCAGCCCTCAGTCACTGGGAGAAGAACCTCTCATACCCTCGGTGCTCCAGTCCCCAGCTCA
CTCAGCCACACACACCATGTGTGAAGAGGAGACCACCGCGCTCGTGTGTGACAATGGCTCTGGCCTGTGCAAGGCAGGCTTCGCAGGAGA
TGATGCCCCCCGGGCTGTCTTCCCCTCCATTGTGGGCCGCCCTCGCCACCAGGGGGTGATGGTGGGAATGGGACAAAAAGACAGCTACGT
GGGTGACGAAGCACAGAGCAAAAGAGGAATCCTGACCCTGAAGTACCCGATAGAACATGGCATCATCACCAACTGGGACGACATGGAAAA
GATCTGGCACCACTCTTTCTACAATGAGCTTCGTGTTGCCCCTGAAGAGCATCCCACCCTGCTCACGGAGGCACCCCTGAACCCCAAGGC
CAACCGGGAGAAAATGACTCAAATTATGTTTGAGACTTTCAATGTCCCAGCCATGTATGTGGCTATCCAGGCGGTGCTGTCTCTCTATGC
CTCTGGACGCACAACTGGCATCGTGCTGGACTCTGGAGATGGTGTCACCCACAATGTCCCCATCTATGAGGGCTATGCCTTGCCCCATGC
CATCATGCGTCTGGATCTGGCTGGCCGAGATCTCACTGACTACCTCATGAAGATCCTGACTGAGCGTGGCTATTCCTTCGTTACTACTGC
TGAGCGTGAGATTGTCCGGGACATCAAGGAGAAACTGTGTTATGTAGCTCTGGACTTTGAAAATGAGATGGCCACTGCCGCATCCTCATC
CTCCCTTGAGAAGAGTTACGAGTTGCCTGATGGGCAAGTGATCACCATCGGAAATGAACGTTTCCGCTGCCCAGAGACCCTGTTCCAGCC
ATCCTTCATCGGGATGGAGTCTGCTGGCATCCATGAAACCACCTACAACAGCATCATGAAGTGTGATATTGACATCAGGAAGGACCTCTA
TGCTAACAATGTCCTATCAGGGGGCACCACTATGTACCCTGGCATTGCCGACCGAATGCAGAAGGAGATCACGGCCCTAGCACCCAGCAC
CATGAAGATCAAGATCATTGCCCCTCCGGAGCGCAAATACTCTGTCTGGATCGGTGGCTCCATCCTGGCCTCTCTGTCCACCTTCCAGCA
GATGTGGATCAGCAAACAGGAATACGATGAAGCCGGGCCTTCCATTGTCCACCGCAAATGCTTCTAAAACACTTTCCTGCTCCTCTCTGT
CTCTAGCACACAACTGTGAATGTCCTGTGGAATTATGCCTTCAGTTCTTTTCCAAATCATTCCTAGCCAAAGCTCTGACTCGTTACCTAT

>1721_1721_8_ACTG2-ACTA2_ACTG2_chr2_74128564_ENST00000409918_ACTA2_chr10_90707143_ENST00000458208_length(amino acids)=411AA_BP=37
LLWYSCQRHTSPQSLGEEPLIPSVLQSPAHSATHTMCEEETTALVCDNGSGLCKAGFAGDDAPRAVFPSIVGRPRHQGVMVGMGQKDSYV
GDEAQSKRGILTLKYPIEHGIITNWDDMEKIWHHSFYNELRVAPEEHPTLLTEAPLNPKANREKMTQIMFETFNVPAMYVAIQAVLSLYA
SGRTTGIVLDSGDGVTHNVPIYEGYALPHAIMRLDLAGRDLTDYLMKILTERGYSFVTTAEREIVRDIKEKLCYVALDFENEMATAASSS
SLEKSYELPDGQVITIGNERFRCPETLFQPSFIGMESAGIHETTYNSIMKCDIDIRKDLYANNVLSGGTTMYPGIADRMQKEITALAPST

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

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Fusion Gene PPI Analysis for ACTG2-ACTA2


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


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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 ACTG2-ACTA2


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 ACTG2-ACTA2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneACTG2C0042781Visceral Myopathy5CTD_human;GENOMICS_ENGLAND;UNIPROT
HgeneACTG2C1608393Megacystis microcolon intestinal hypoperistalsis syndrome3CTD_human;GENOMICS_ENGLAND;ORPHANET
HgeneACTG2C0007102Malignant tumor of colon1CTD_human
HgeneACTG2C0009375Colonic Neoplasms1CTD_human
HgeneACTG2C0266833Visceral Myopathy, Familial1CTD_human;ORPHANET
HgeneACTG2C1835084Megaduodenum and-or Megacystis1ORPHANET
TgeneC4707243Familial thoracic aortic aneurysm and aortic dissection7CLINGEN;GENOMICS_ENGLAND
TgeneC2673186Aortic Aneurysm, Familial Thoracic 65CTD_human;GENOMICS_ENGLAND;UNIPROT
TgeneC3279690MOYAMOYA DISEASE 54CTD_human;GENOMICS_ENGLAND;UNIPROT
TgeneC0023890Liver Cirrhosis3CTD_human
TgeneC0239946Fibrosis, Liver3CTD_human
TgeneC3151201MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME3GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneC0023893Liver Cirrhosis, Experimental2CTD_human
TgeneC0026654Moyamoya Disease2GENOMICS_ENGLAND;ORPHANET
TgeneC2931384Moyamoya disease 12ORPHANET
TgeneC0005398Cholestasis, Extrahepatic1CTD_human
TgeneC0006142Malignant neoplasm of breast1CTD_human
TgeneC0007102Malignant tumor of colon1CTD_human
TgeneC0009375Colonic Neoplasms1CTD_human
TgeneC0014175Endometriosis1CTD_human
TgeneC0015934Fetal Growth Retardation1CTD_human
TgeneC0017668Focal glomerulosclerosis1CTD_human
TgeneC0019189Hepatitis, Chronic1CTD_human
TgeneC0022116Ischemia1CTD_human
TgeneC0022658Kidney Diseases1CTD_human
TgeneC0023895Liver diseases1CTD_human
TgeneC0027051Myocardial Infarction1CTD_human
TgeneC0027719Nephrosclerosis1CTD_human
TgeneC0034069Pulmonary Fibrosis1CTD_human
TgeneC0036421Systemic Scleroderma1CTD_human
TgeneC0041956Ureteral obstruction1CTD_human
TgeneC0086432Hyalinosis, Segmental Glomerular1CTD_human
TgeneC0086565Liver Dysfunction1CTD_human
TgeneC0149519Chronic Persistent Hepatitis1CTD_human
TgeneC0162872Aortic Aneurysm, Thoracic1CTD_human
TgeneC0269102Endometrioma1CTD_human
TgeneC0340630Aortic Aneurysm, Thoracoabdominal1CTD_human
TgeneC0520463Chronic active hepatitis1CTD_human
TgeneC0524611Cryptogenic Chronic Hepatitis1CTD_human
TgeneC0678222Breast Carcinoma1CTD_human
TgeneC1257931Mammary Neoplasms, Human1CTD_human
TgeneC1458155Mammary Neoplasms1CTD_human
TgeneC1619692Nephrogenic Fibrosing Dermopathy1CTD_human
TgeneC1876165Copper-Overload Cirrhosis1CTD_human
TgeneC4704874Mammary Carcinoma, Human1CTD_human
TgeneC4721507Alveolitis, Fibrosing1CTD_human