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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:AUTS2-ACTR1A (FusionGDB2 ID:HG26053TG10121)

Fusion Gene Summary for AUTS2-ACTR1A

check button Fusion gene summary
Fusion gene informationFusion gene name: AUTS2-ACTR1A
Fusion gene ID: hg26053tg10121
HgeneTgene
Gene symbol

AUTS2

ACTR1A

Gene ID

26053

10121

Gene nameactivator of transcription and developmental regulator AUTS2actin related protein 1A
SynonymsFBRSL2|MRD26ARP1|Arp1A|CTRN1
Cytomap('AUTS2')('ACTR1A')

7q11.22

10q24.32

Type of geneprotein-codingprotein-coding
Descriptionautism susceptibility gene 2 proteinAUTS2, activator of transcription and developmental regulatorautism susceptibility candidate 2autism-related protein 1alpha-centractinARP1 actin related protein 1 homolog AARP1 actin-related protein 1 homolog A, centractin alphaactin-RPVcentractincentrosome-associated actin homologepididymis secretory sperm binding protein
Modification date2020031320200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000342771, ENST00000403018, 
ENST00000406775, ENST00000489774, 
Fusion gene scores* DoF score29 X 23 X 8=53365 X 5 X 4=100
# samples 305
** MAII scorelog2(30/5336*10)=-4.1527242606887
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(5/100*10)=-1
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: AUTS2 [Title/Abstract] AND ACTR1A [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointAUTS2(69364484)-ACTR1A(104250370), # samples:3
Anticipated loss of major functional domain due to fusion event.AUTS2-ACTR1A 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.
AUTS2-ACTR1A 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)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
HgeneAUTS2

GO:0045944

positive regulation of transcription by RNA polymerase II

25519132

HgeneAUTS2

GO:0051571

positive regulation of histone H3-K4 methylation

25519132

HgeneAUTS2

GO:2000620

positive regulation of histone H4-K16 acetylation

25519132


check buttonFusion gene breakpoints across AUTS2 (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 ACTR1A (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
ChimerDB4SARCTCGA-LI-A67I-01AAUTS2chr7

69364484

-ACTR1Achr10

104250370

-
ChimerDB4SARCTCGA-LI-A67I-01AAUTS2chr7

69364484

+ACTR1Achr10

104250370

-


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Fusion Gene ORF analysis for AUTS2-ACTR1A

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-5UTRENST00000342771ENST00000545684AUTS2chr7

69364484

+ACTR1Achr10

104250370

-
5CDS-5UTRENST00000403018ENST00000545684AUTS2chr7

69364484

+ACTR1Achr10

104250370

-
5CDS-5UTRENST00000406775ENST00000545684AUTS2chr7

69364484

+ACTR1Achr10

104250370

-
5CDS-intronENST00000342771ENST00000446605AUTS2chr7

69364484

+ACTR1Achr10

104250370

-
5CDS-intronENST00000342771ENST00000470322AUTS2chr7

69364484

+ACTR1Achr10

104250370

-
5CDS-intronENST00000342771ENST00000487599AUTS2chr7

69364484

+ACTR1Achr10

104250370

-
5CDS-intronENST00000403018ENST00000446605AUTS2chr7

69364484

+ACTR1Achr10

104250370

-
5CDS-intronENST00000403018ENST00000470322AUTS2chr7

69364484

+ACTR1Achr10

104250370

-
5CDS-intronENST00000403018ENST00000487599AUTS2chr7

69364484

+ACTR1Achr10

104250370

-
5CDS-intronENST00000406775ENST00000446605AUTS2chr7

69364484

+ACTR1Achr10

104250370

-
5CDS-intronENST00000406775ENST00000470322AUTS2chr7

69364484

+ACTR1Achr10

104250370

-
5CDS-intronENST00000406775ENST00000487599AUTS2chr7

69364484

+ACTR1Achr10

104250370

-
In-frameENST00000342771ENST00000369905AUTS2chr7

69364484

+ACTR1Achr10

104250370

-
In-frameENST00000403018ENST00000369905AUTS2chr7

69364484

+ACTR1Achr10

104250370

-
In-frameENST00000406775ENST00000369905AUTS2chr7

69364484

+ACTR1Achr10

104250370

-
intron-3CDSENST00000489774ENST00000369905AUTS2chr7

69364484

+ACTR1Achr10

104250370

-
intron-5UTRENST00000489774ENST00000545684AUTS2chr7

69364484

+ACTR1Achr10

104250370

-
intron-intronENST00000489774ENST00000446605AUTS2chr7

69364484

+ACTR1Achr10

104250370

-
intron-intronENST00000489774ENST00000470322AUTS2chr7

69364484

+ACTR1Achr10

104250370

-
intron-intronENST00000489774ENST00000487599AUTS2chr7

69364484

+ACTR1Achr10

104250370

-

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)
ENST00000406775AUTS2chr769364484+ENST00000369905ACTR1Achr10104250370-397412577352339534
ENST00000342771AUTS2chr769364484+ENST00000369905ACTR1Achr10104250370-35608433211925534
ENST00000403018AUTS2chr769364484+ENST00000369905ACTR1Achr10104250370-3282565431647534

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
ENST00000406775ENST00000369905AUTS2chr769364484+ACTR1Achr10104250370-0.0042938520.99570614
ENST00000342771ENST00000369905AUTS2chr769364484+ACTR1Achr10104250370-0.004412180.9955878
ENST00000403018ENST00000369905AUTS2chr769364484+ACTR1Achr10104250370-0.0046124720.9953875

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Fusion Genomic Features for AUTS2-ACTR1A


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 AUTS2-ACTR1A


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/chr7:69364484/chr10:104250370)
- 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
HgeneAUTS2chr7:69364484chr10:104250370ENST00000342771+2191122_11811741260.0Compositional biasHis-rich
HgeneAUTS2chr7:69364484chr10:104250370ENST00000342771+219288_4711741260.0Compositional biasPro-rich
HgeneAUTS2chr7:69364484chr10:104250370ENST00000342771+219525_5481741260.0Compositional biasHis-rich
HgeneAUTS2chr7:69364484chr10:104250370ENST00000342771+219545_6461741260.0Compositional biasPro-rich
HgeneAUTS2chr7:69364484chr10:104250370ENST00000403018+251122_1181174267.0Compositional biasHis-rich
HgeneAUTS2chr7:69364484chr10:104250370ENST00000403018+25288_471174267.0Compositional biasPro-rich
HgeneAUTS2chr7:69364484chr10:104250370ENST00000403018+25525_548174267.0Compositional biasHis-rich
HgeneAUTS2chr7:69364484chr10:104250370ENST00000403018+25545_646174267.0Compositional biasPro-rich
HgeneAUTS2chr7:69364484chr10:104250370ENST00000406775+2181122_11811741236.0Compositional biasHis-rich
HgeneAUTS2chr7:69364484chr10:104250370ENST00000406775+218288_4711741236.0Compositional biasPro-rich
HgeneAUTS2chr7:69364484chr10:104250370ENST00000406775+218525_5481741236.0Compositional biasHis-rich
HgeneAUTS2chr7:69364484chr10:104250370ENST00000406775+218545_6461741236.0Compositional biasPro-rich
HgeneAUTS2chr7:69364484chr10:104250370ENST00000342771+219289_4721741260.0RegionImportant for regulation of lamellipodia formation
HgeneAUTS2chr7:69364484chr10:104250370ENST00000403018+25289_472174267.0RegionImportant for regulation of lamellipodia formation
HgeneAUTS2chr7:69364484chr10:104250370ENST00000406775+218289_4721741236.0RegionImportant for regulation of lamellipodia formation


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Fusion Gene Sequence for AUTS2-ACTR1A


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.
>8493_8493_1_AUTS2-ACTR1A_AUTS2_chr7_69364484_ENST00000342771_ACTR1A_chr10_104250370_ENST00000369905_length(transcript)=3560nt_BP=843nt
CTGTGTGTTCAGCCATTACTTTGCTCGGCGCTGCTCCCAGGCATCTCCGACCCTCGGTGCTGTGGGGAGCCCCACACTTGGGCTCCTCGC
CTCTCGCCCTCGCTCCCCGTCCCTCCTCCCCTCTCTCCGCCCCTTCCCCCTTTTCTTTCTCCTCTCTTTCTTCCCCTCTCTCCCTTCTTT
CGGCCGCCGTCTCCCCCGCGCCCTCCTCGGGGCGGAGGGAAGCCGTGAAGGGGGAGGGAGGGCTCGGTGTCAATTTTTTTTTGTGTGGCT
GCGGCCGTAGCCTGTGGCGGGCAAGCGGGGAGACCCCGGCGCAGCAGAACCATGGATGGCCCGACGCGGGGCCATGGACTCCGCAAAAAG
CGGCGGTCGCGGTCGCAGCGAGACCGGGAGAGGCGCTCCCGGGGCGGGCTGGGGGCCGGCGCGGCCGGCGGCGGCGGGGCTGGCCGGACC
CGGGCGCTCTCACTCGCCTCGTCGTCGGGCTCCGACAAGGAAGACAATGGGAAGCCCCCGTCCTCCGCCCCGTCCCGGCCCAGACCCCCG
CGGAGGAAGCGGAGAGAGTCCACCTCGGCAGAAGAGGACATCATTGATGGATTTGCCATGACCAGCTTTGTCACTTTTGAAGCGCTGGAG
AAAGATGTAGCACTTAAGCCTCAGGAACGTGTGGAGAAACGCCAGACGCCCCTGACCAAGAAGAAACGAGAAGCACTTACCAATGGCTTG
TCCTTTCATTCAAAGAAGAGCAGACTCAGCCACCCACACCACTACAGCTCAGATCGAGAAAATGACCGCAATCTCTGCCAGCACCTTGGG
AAGAGAAAGAAAATGCCGAAGGCACTCAGACAGGGATCCGGTGTGATTAAAGCTGGTTTTGCTGGTGATCAGATCCCCAAATACTGCTTT
CCAAACTATGTGGGCCGACCCAAGCACGTTCGTGTCATGGCAGGAGCCCTTGAAGGCGACATCTTCATTGGCCCCAAAGCTGAGGAGCAC
CGAGGGCTGCTTTCAATCCGCTATCCCATGGAGCATGGCATCGTCAAGGATTGGAACGACATGGAACGCATTTGGCAATATGTCTATTCT
AAGGACCAGCTGCAGACTTTCTCAGAGGAGCATCCTGTGCTCCTGACTGAGGCGCCTTTAAACCCACGAAAAAACCGGGAACGAGCTGCC
GAAGTTTTCTTCGAGACCTTCAATGTGCCCGCTCTTTTCATCTCCATGCAAGCTGTACTCAGCCTTTACGCTACAGGCAGGACCACAGGG
GTGGTGCTGGATTCTGGGGATGGAGTCACCCATGCTGTGCCCATCTATGAGGGCTTTGCCATGCCCCACTCCATCATGCGCATCGACATC
GCGGGCCGGGACGTCTCTCGCTTCCTGCGCCTCTACCTGCGTAAGGAGGGCTACGACTTCCACTCATCCTCTGAGTTTGAGATTGTCAAG
GCCATAAAAGAAAGAGCCTGTTACCTATCCATAAACCCCCAAAAGGATGAGACGCTAGAGACAGAGAAAGCTCAGTACTACCTGCCTGAT
GGCAGCACCATTGAGATTGGTCCTTCCCGATTCCGGGCCCCTGAGTTGCTCTTCAGGCCAGATTTGATTGGAGAGGAGAGTGAAGGCATC
CACGAGGTCCTGGTGTTCGCCATTCAGAAGTCAGACATGGACCTGCGGCGCACGCTTTTCTCTAACATTGTCCTCTCAGGAGGCTCTACC
CTGTTCAAAGGTTTTGGTGACAGGCTCCTGAGTGAAGTGAAGAAACTAGCTCCAAAAGATGTGAAGATCAGGATATCTGCACCTCAGGAG
AGACTGTATTCCACGTGGATTGGGGGCTCCATCCTTGCCTCCCTGGACACCTTTAAGAAGATGTGGGTCTCCAAAAAGGAATATGAGGAA
GACGGTGCCCGATCCATCCACAGAAAAACCTTCTAATGTCGGGACATCATCTTCACCTCTCTCTGAAGTTAACTCCACTTTAAAACTCGC
TTTCTTGAGTCGGAGTGTTTGCGAGGAACTGCCTGTGTGTGAGTGCGTGTGTGGATATGAGTGTGTGTGCACATGCGAGTGCCGTGTGGC
CCTGGGACCCTGGGCCCAGAAAGGACGATGAACTACCTGCAGTGGTGATGGCCTGAGGCCTGGGGTTGACCACTAACTGGCTCCTGACAG
GGAAGAGCGCTGGCAGAGGCTGTGCTCCCTCCTCAGGTGGCCTCTGGCTGGCTGTGGGGGACTCCGTTTACTACCACAGGGAGACAGAGG
GAGGTAAGCCATCCCCCGGGAGACCTTGCTGCTGACCATCCTAGGCTGGGCTGGCCCCACCCTCACCCCCACCCCCAGGGTGCCCTGAGG
CCCCAGGCAGCTGCTGCCTCCACTATCGATGCCTCCTGACTGCACACTGAGGACTGGGACTGGGGTTGAGTTCTGTCTGGTTTTGTTGCC
ATTTTGGTTTGGGAGGCTGGAAAAGCACCCCAAGAGCTATTACAGAGACTGGAGTCAGGAGAGAGCAGGAGGCCCTCATGTTCACCAGGG
AACAGGACCACACCGGCCACTGGAGGAGGGCAGGAGCAGTCCTCACTCTGAATGGCTGCAGAGTTAATGTTCCCAGCCCAGTCCCCTTTC
GGGGGCCTTGGGAGAGTTTAAGGCACCTGCTGGTTCCAGGACCTCGCTTTCCATCTGTTCTTGTTGCAATGCCATCTTCAAACCGTTTTA
TTTATTGAAGTGTTTGTTCAGTTAGGGGCTGGAGAGAGGGAGCTTGCTGCCTCCTGCCTTGCTACACTAATGTTTACAGCACCTAAGCTT
AGCCTCCAGGGCCCCACCTCTCCCAGCTGATGGTGAGCTGACAGTGTCCACAGGTTCCAGGACCATTTGAGATTGGAAGCTACACTCAAA
GACACTCCCACCAGGCTCTTTCTCCCTTTTCCTCTTGCTCACTGCCCTGGAATCAACAGGCTGGTTGCTGGTTAGATTTTCTGAAACAGG
AGGTAAAATTTTTCTTTGGCAGAGGCCCCTAAGCAAGGGAGGGGTGTTGGAGAGCCAGTGCCCTTAAGACTGGAGAAAGCTGCAATTTAC
CAAGTTGCCTTTTGCCACTGTAGCTGACCAGGGGACTAGGTTGTAGAGGTGGGAAGGCCCCCTCTGGGCTGATCTTGTGCCATTCTTGAC
CTTGGACCTGCTTGGTTAAGGAGGGAGTGGGCCAGACCAGAGTGCCAGGAGCTAATGGAGCCAGGCCTGACTCCTAGGAGTGGTCCAAAG
GCCTTCAGCCTAGATGGTGCAAAGCTGGGGCCAGCCTGTCTTCACCGGCACCCTCACCTGTGACACCAAGACCCACCCCAATCCCAGACT
TCACACAGTATTCTCCCCCACGCCGTCCTATGACCAAAGGCCCCTGCCAGGTGTGGGCCACAGCAGCAGGTATGTGTGAAAGCAACGTAG
CGCCCCGCGGACTGCAGTGCGCTTAACCAACTCACCTCCCTTCTCTTAGCCCAAGCCTGTCCCTCGCACAGCCTCGCACAAACCACATTG

>8493_8493_1_AUTS2-ACTR1A_AUTS2_chr7_69364484_ENST00000342771_ACTR1A_chr10_104250370_ENST00000369905_length(amino acids)=534AA_BP=173
MDGPTRGHGLRKKRRSRSQRDRERRSRGGLGAGAAGGGGAGRTRALSLASSSGSDKEDNGKPPSSAPSRPRPPRRKRRESTSAEEDIIDG
FAMTSFVTFEALEKDVALKPQERVEKRQTPLTKKKREALTNGLSFHSKKSRLSHPHHYSSDRENDRNLCQHLGKRKKMPKALRQGSGVIK
AGFAGDQIPKYCFPNYVGRPKHVRVMAGALEGDIFIGPKAEEHRGLLSIRYPMEHGIVKDWNDMERIWQYVYSKDQLQTFSEEHPVLLTE
APLNPRKNRERAAEVFFETFNVPALFISMQAVLSLYATGRTTGVVLDSGDGVTHAVPIYEGFAMPHSIMRIDIAGRDVSRFLRLYLRKEG
YDFHSSSEFEIVKAIKERACYLSINPQKDETLETEKAQYYLPDGSTIEIGPSRFRAPELLFRPDLIGEESEGIHEVLVFAIQKSDMDLRR

--------------------------------------------------------------
>8493_8493_2_AUTS2-ACTR1A_AUTS2_chr7_69364484_ENST00000403018_ACTR1A_chr10_104250370_ENST00000369905_length(transcript)=3282nt_BP=565nt
AGCCTGTGGCGGGCAAGCGGGGAGACCCCGGCGCAGCAGAACCATGGATGGCCCGACGCGGGGCCATGGACTCCGCAAAAAGCGGCGGTC
GCGGTCGCAGCGAGACCGGGAGAGGCGCTCCCGGGGCGGGCTGGGGGCCGGCGCGGCCGGCGGCGGCGGGGCTGGCCGGACCCGGGCGCT
CTCACTCGCCTCGTCGTCGGGCTCCGACAAGGAAGACAATGGGAAGCCCCCGTCCTCCGCCCCGTCCCGGCCCAGACCCCCGCGGAGGAA
GCGGAGAGAGTCCACCTCGGCAGAAGAGGACATCATTGATGGATTTGCCATGACCAGCTTTGTCACTTTTGAAGCGCTGGAGAAAGATGT
AGCACTTAAGCCTCAGGAACGTGTGGAGAAACGCCAGACGCCCCTGACCAAGAAGAAACGAGAAGCACTTACCAATGGCTTGTCCTTTCA
TTCAAAGAAGAGCAGACTCAGCCACCCACACCACTACAGCTCAGATCGAGAAAATGACCGCAATCTCTGCCAGCACCTTGGGAAGAGAAA
GAAAATGCCGAAGGCACTCAGACAGGGATCCGGTGTGATTAAAGCTGGTTTTGCTGGTGATCAGATCCCCAAATACTGCTTTCCAAACTA
TGTGGGCCGACCCAAGCACGTTCGTGTCATGGCAGGAGCCCTTGAAGGCGACATCTTCATTGGCCCCAAAGCTGAGGAGCACCGAGGGCT
GCTTTCAATCCGCTATCCCATGGAGCATGGCATCGTCAAGGATTGGAACGACATGGAACGCATTTGGCAATATGTCTATTCTAAGGACCA
GCTGCAGACTTTCTCAGAGGAGCATCCTGTGCTCCTGACTGAGGCGCCTTTAAACCCACGAAAAAACCGGGAACGAGCTGCCGAAGTTTT
CTTCGAGACCTTCAATGTGCCCGCTCTTTTCATCTCCATGCAAGCTGTACTCAGCCTTTACGCTACAGGCAGGACCACAGGGGTGGTGCT
GGATTCTGGGGATGGAGTCACCCATGCTGTGCCCATCTATGAGGGCTTTGCCATGCCCCACTCCATCATGCGCATCGACATCGCGGGCCG
GGACGTCTCTCGCTTCCTGCGCCTCTACCTGCGTAAGGAGGGCTACGACTTCCACTCATCCTCTGAGTTTGAGATTGTCAAGGCCATAAA
AGAAAGAGCCTGTTACCTATCCATAAACCCCCAAAAGGATGAGACGCTAGAGACAGAGAAAGCTCAGTACTACCTGCCTGATGGCAGCAC
CATTGAGATTGGTCCTTCCCGATTCCGGGCCCCTGAGTTGCTCTTCAGGCCAGATTTGATTGGAGAGGAGAGTGAAGGCATCCACGAGGT
CCTGGTGTTCGCCATTCAGAAGTCAGACATGGACCTGCGGCGCACGCTTTTCTCTAACATTGTCCTCTCAGGAGGCTCTACCCTGTTCAA
AGGTTTTGGTGACAGGCTCCTGAGTGAAGTGAAGAAACTAGCTCCAAAAGATGTGAAGATCAGGATATCTGCACCTCAGGAGAGACTGTA
TTCCACGTGGATTGGGGGCTCCATCCTTGCCTCCCTGGACACCTTTAAGAAGATGTGGGTCTCCAAAAAGGAATATGAGGAAGACGGTGC
CCGATCCATCCACAGAAAAACCTTCTAATGTCGGGACATCATCTTCACCTCTCTCTGAAGTTAACTCCACTTTAAAACTCGCTTTCTTGA
GTCGGAGTGTTTGCGAGGAACTGCCTGTGTGTGAGTGCGTGTGTGGATATGAGTGTGTGTGCACATGCGAGTGCCGTGTGGCCCTGGGAC
CCTGGGCCCAGAAAGGACGATGAACTACCTGCAGTGGTGATGGCCTGAGGCCTGGGGTTGACCACTAACTGGCTCCTGACAGGGAAGAGC
GCTGGCAGAGGCTGTGCTCCCTCCTCAGGTGGCCTCTGGCTGGCTGTGGGGGACTCCGTTTACTACCACAGGGAGACAGAGGGAGGTAAG
CCATCCCCCGGGAGACCTTGCTGCTGACCATCCTAGGCTGGGCTGGCCCCACCCTCACCCCCACCCCCAGGGTGCCCTGAGGCCCCAGGC
AGCTGCTGCCTCCACTATCGATGCCTCCTGACTGCACACTGAGGACTGGGACTGGGGTTGAGTTCTGTCTGGTTTTGTTGCCATTTTGGT
TTGGGAGGCTGGAAAAGCACCCCAAGAGCTATTACAGAGACTGGAGTCAGGAGAGAGCAGGAGGCCCTCATGTTCACCAGGGAACAGGAC
CACACCGGCCACTGGAGGAGGGCAGGAGCAGTCCTCACTCTGAATGGCTGCAGAGTTAATGTTCCCAGCCCAGTCCCCTTTCGGGGGCCT
TGGGAGAGTTTAAGGCACCTGCTGGTTCCAGGACCTCGCTTTCCATCTGTTCTTGTTGCAATGCCATCTTCAAACCGTTTTATTTATTGA
AGTGTTTGTTCAGTTAGGGGCTGGAGAGAGGGAGCTTGCTGCCTCCTGCCTTGCTACACTAATGTTTACAGCACCTAAGCTTAGCCTCCA
GGGCCCCACCTCTCCCAGCTGATGGTGAGCTGACAGTGTCCACAGGTTCCAGGACCATTTGAGATTGGAAGCTACACTCAAAGACACTCC
CACCAGGCTCTTTCTCCCTTTTCCTCTTGCTCACTGCCCTGGAATCAACAGGCTGGTTGCTGGTTAGATTTTCTGAAACAGGAGGTAAAA
TTTTTCTTTGGCAGAGGCCCCTAAGCAAGGGAGGGGTGTTGGAGAGCCAGTGCCCTTAAGACTGGAGAAAGCTGCAATTTACCAAGTTGC
CTTTTGCCACTGTAGCTGACCAGGGGACTAGGTTGTAGAGGTGGGAAGGCCCCCTCTGGGCTGATCTTGTGCCATTCTTGACCTTGGACC
TGCTTGGTTAAGGAGGGAGTGGGCCAGACCAGAGTGCCAGGAGCTAATGGAGCCAGGCCTGACTCCTAGGAGTGGTCCAAAGGCCTTCAG
CCTAGATGGTGCAAAGCTGGGGCCAGCCTGTCTTCACCGGCACCCTCACCTGTGACACCAAGACCCACCCCAATCCCAGACTTCACACAG
TATTCTCCCCCACGCCGTCCTATGACCAAAGGCCCCTGCCAGGTGTGGGCCACAGCAGCAGGTATGTGTGAAAGCAACGTAGCGCCCCGC
GGACTGCAGTGCGCTTAACCAACTCACCTCCCTTCTCTTAGCCCAAGCCTGTCCCTCGCACAGCCTCGCACAAACCACATTGCCTGGTGG

>8493_8493_2_AUTS2-ACTR1A_AUTS2_chr7_69364484_ENST00000403018_ACTR1A_chr10_104250370_ENST00000369905_length(amino acids)=534AA_BP=173
MDGPTRGHGLRKKRRSRSQRDRERRSRGGLGAGAAGGGGAGRTRALSLASSSGSDKEDNGKPPSSAPSRPRPPRRKRRESTSAEEDIIDG
FAMTSFVTFEALEKDVALKPQERVEKRQTPLTKKKREALTNGLSFHSKKSRLSHPHHYSSDRENDRNLCQHLGKRKKMPKALRQGSGVIK
AGFAGDQIPKYCFPNYVGRPKHVRVMAGALEGDIFIGPKAEEHRGLLSIRYPMEHGIVKDWNDMERIWQYVYSKDQLQTFSEEHPVLLTE
APLNPRKNRERAAEVFFETFNVPALFISMQAVLSLYATGRTTGVVLDSGDGVTHAVPIYEGFAMPHSIMRIDIAGRDVSRFLRLYLRKEG
YDFHSSSEFEIVKAIKERACYLSINPQKDETLETEKAQYYLPDGSTIEIGPSRFRAPELLFRPDLIGEESEGIHEVLVFAIQKSDMDLRR

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>8493_8493_3_AUTS2-ACTR1A_AUTS2_chr7_69364484_ENST00000406775_ACTR1A_chr10_104250370_ENST00000369905_length(transcript)=3974nt_BP=1257nt
CGCTCGCAGTTTCGCCCTCTCTTCCGCTAATGATTGCATTATTATGCTCCCCTCTCTGGGGGGTCTCGCCCCTCTTGGGTCGCTCCGGAG
CCCCGGCCTCCCCTGGCTGCATTTCTTAAAAATTTGGGAGCCTGGGAGTGAGTTTTCTCCGAGGCGTGTGTGAGAGGCGGCGGGGGTGTT
TTCCTGCGCGAGGGGCGGGTGAAGTTCATTGCCCCCACTTTTCCCGCGACCTTTTTCGGACCCGATTTTGGATCGAGTTGAGGGGGGCGC
GGGCGTTTTCGGGGGGCGGGGGGCGCGGCGGAGAATGGCCGCGGGGAGGGCTCCCCGGAGCCTCCCAGTCTCTTGATCAAAGCATTCCGC
TATTCTGATTTATTGCTTGCTTGGTGAGTTATTTTTTTTTCCTCTAAAGGAGACCTGTGTGTTCAGCCATTACTTTGCTCGGCGCTGCTC
CCAGGCATCTCCGACCCTCGGTGCTGTGGGGAGCCCCACACTTGGGCTCCTCGCCTCTCGCCCTCGCTCCCCGTCCCTCCTCCCCTCTCT
CCGCCCCTTCCCCCTTTTCTTTCTCCTCTCTTTCTTCCCCTCTCTCCCTTCTTTCGGCCGCCGTCTCCCCCGCGCCCTCCTCGGGGCGGA
GGGAAGCCGTGAAGGGGGAGGGAGGGCTCGGTGTCAATTTTTTTTTGTGTGGCTGCGGCCGTAGCCTGTGGCGGGCAAGCGGGGAGACCC
CGGCGCAGCAGAACCATGGATGGCCCGACGCGGGGCCATGGACTCCGCAAAAAGCGGCGGTCGCGGTCGCAGCGAGACCGGGAGAGGCGC
TCCCGGGGCGGGCTGGGGGCCGGCGCGGCCGGCGGCGGCGGGGCTGGCCGGACCCGGGCGCTCTCACTCGCCTCGTCGTCGGGCTCCGAC
AAGGAAGACAATGGGAAGCCCCCGTCCTCCGCCCCGTCCCGGCCCAGACCCCCGCGGAGGAAGCGGAGAGAGTCCACCTCGGCAGAAGAG
GACATCATTGATGGATTTGCCATGACCAGCTTTGTCACTTTTGAAGCGCTGGAGAAAGATGTAGCACTTAAGCCTCAGGAACGTGTGGAG
AAACGCCAGACGCCCCTGACCAAGAAGAAACGAGAAGCACTTACCAATGGCTTGTCCTTTCATTCAAAGAAGAGCAGACTCAGCCACCCA
CACCACTACAGCTCAGATCGAGAAAATGACCGCAATCTCTGCCAGCACCTTGGGAAGAGAAAGAAAATGCCGAAGGCACTCAGACAGGGA
TCCGGTGTGATTAAAGCTGGTTTTGCTGGTGATCAGATCCCCAAATACTGCTTTCCAAACTATGTGGGCCGACCCAAGCACGTTCGTGTC
ATGGCAGGAGCCCTTGAAGGCGACATCTTCATTGGCCCCAAAGCTGAGGAGCACCGAGGGCTGCTTTCAATCCGCTATCCCATGGAGCAT
GGCATCGTCAAGGATTGGAACGACATGGAACGCATTTGGCAATATGTCTATTCTAAGGACCAGCTGCAGACTTTCTCAGAGGAGCATCCT
GTGCTCCTGACTGAGGCGCCTTTAAACCCACGAAAAAACCGGGAACGAGCTGCCGAAGTTTTCTTCGAGACCTTCAATGTGCCCGCTCTT
TTCATCTCCATGCAAGCTGTACTCAGCCTTTACGCTACAGGCAGGACCACAGGGGTGGTGCTGGATTCTGGGGATGGAGTCACCCATGCT
GTGCCCATCTATGAGGGCTTTGCCATGCCCCACTCCATCATGCGCATCGACATCGCGGGCCGGGACGTCTCTCGCTTCCTGCGCCTCTAC
CTGCGTAAGGAGGGCTACGACTTCCACTCATCCTCTGAGTTTGAGATTGTCAAGGCCATAAAAGAAAGAGCCTGTTACCTATCCATAAAC
CCCCAAAAGGATGAGACGCTAGAGACAGAGAAAGCTCAGTACTACCTGCCTGATGGCAGCACCATTGAGATTGGTCCTTCCCGATTCCGG
GCCCCTGAGTTGCTCTTCAGGCCAGATTTGATTGGAGAGGAGAGTGAAGGCATCCACGAGGTCCTGGTGTTCGCCATTCAGAAGTCAGAC
ATGGACCTGCGGCGCACGCTTTTCTCTAACATTGTCCTCTCAGGAGGCTCTACCCTGTTCAAAGGTTTTGGTGACAGGCTCCTGAGTGAA
GTGAAGAAACTAGCTCCAAAAGATGTGAAGATCAGGATATCTGCACCTCAGGAGAGACTGTATTCCACGTGGATTGGGGGCTCCATCCTT
GCCTCCCTGGACACCTTTAAGAAGATGTGGGTCTCCAAAAAGGAATATGAGGAAGACGGTGCCCGATCCATCCACAGAAAAACCTTCTAA
TGTCGGGACATCATCTTCACCTCTCTCTGAAGTTAACTCCACTTTAAAACTCGCTTTCTTGAGTCGGAGTGTTTGCGAGGAACTGCCTGT
GTGTGAGTGCGTGTGTGGATATGAGTGTGTGTGCACATGCGAGTGCCGTGTGGCCCTGGGACCCTGGGCCCAGAAAGGACGATGAACTAC
CTGCAGTGGTGATGGCCTGAGGCCTGGGGTTGACCACTAACTGGCTCCTGACAGGGAAGAGCGCTGGCAGAGGCTGTGCTCCCTCCTCAG
GTGGCCTCTGGCTGGCTGTGGGGGACTCCGTTTACTACCACAGGGAGACAGAGGGAGGTAAGCCATCCCCCGGGAGACCTTGCTGCTGAC
CATCCTAGGCTGGGCTGGCCCCACCCTCACCCCCACCCCCAGGGTGCCCTGAGGCCCCAGGCAGCTGCTGCCTCCACTATCGATGCCTCC
TGACTGCACACTGAGGACTGGGACTGGGGTTGAGTTCTGTCTGGTTTTGTTGCCATTTTGGTTTGGGAGGCTGGAAAAGCACCCCAAGAG
CTATTACAGAGACTGGAGTCAGGAGAGAGCAGGAGGCCCTCATGTTCACCAGGGAACAGGACCACACCGGCCACTGGAGGAGGGCAGGAG
CAGTCCTCACTCTGAATGGCTGCAGAGTTAATGTTCCCAGCCCAGTCCCCTTTCGGGGGCCTTGGGAGAGTTTAAGGCACCTGCTGGTTC
CAGGACCTCGCTTTCCATCTGTTCTTGTTGCAATGCCATCTTCAAACCGTTTTATTTATTGAAGTGTTTGTTCAGTTAGGGGCTGGAGAG
AGGGAGCTTGCTGCCTCCTGCCTTGCTACACTAATGTTTACAGCACCTAAGCTTAGCCTCCAGGGCCCCACCTCTCCCAGCTGATGGTGA
GCTGACAGTGTCCACAGGTTCCAGGACCATTTGAGATTGGAAGCTACACTCAAAGACACTCCCACCAGGCTCTTTCTCCCTTTTCCTCTT
GCTCACTGCCCTGGAATCAACAGGCTGGTTGCTGGTTAGATTTTCTGAAACAGGAGGTAAAATTTTTCTTTGGCAGAGGCCCCTAAGCAA
GGGAGGGGTGTTGGAGAGCCAGTGCCCTTAAGACTGGAGAAAGCTGCAATTTACCAAGTTGCCTTTTGCCACTGTAGCTGACCAGGGGAC
TAGGTTGTAGAGGTGGGAAGGCCCCCTCTGGGCTGATCTTGTGCCATTCTTGACCTTGGACCTGCTTGGTTAAGGAGGGAGTGGGCCAGA
CCAGAGTGCCAGGAGCTAATGGAGCCAGGCCTGACTCCTAGGAGTGGTCCAAAGGCCTTCAGCCTAGATGGTGCAAAGCTGGGGCCAGCC
TGTCTTCACCGGCACCCTCACCTGTGACACCAAGACCCACCCCAATCCCAGACTTCACACAGTATTCTCCCCCACGCCGTCCTATGACCA
AAGGCCCCTGCCAGGTGTGGGCCACAGCAGCAGGTATGTGTGAAAGCAACGTAGCGCCCCGCGGACTGCAGTGCGCTTAACCAACTCACC
TCCCTTCTCTTAGCCCAAGCCTGTCCCTCGCACAGCCTCGCACAAACCACATTGCCTGGTGGGGCCCAGTGTACTGAAATAAAGTCGTTC

>8493_8493_3_AUTS2-ACTR1A_AUTS2_chr7_69364484_ENST00000406775_ACTR1A_chr10_104250370_ENST00000369905_length(amino acids)=534AA_BP=173
MDGPTRGHGLRKKRRSRSQRDRERRSRGGLGAGAAGGGGAGRTRALSLASSSGSDKEDNGKPPSSAPSRPRPPRRKRRESTSAEEDIIDG
FAMTSFVTFEALEKDVALKPQERVEKRQTPLTKKKREALTNGLSFHSKKSRLSHPHHYSSDRENDRNLCQHLGKRKKMPKALRQGSGVIK
AGFAGDQIPKYCFPNYVGRPKHVRVMAGALEGDIFIGPKAEEHRGLLSIRYPMEHGIVKDWNDMERIWQYVYSKDQLQTFSEEHPVLLTE
APLNPRKNRERAAEVFFETFNVPALFISMQAVLSLYATGRTTGVVLDSGDGVTHAVPIYEGFAMPHSIMRIDIAGRDVSRFLRLYLRKEG
YDFHSSSEFEIVKAIKERACYLSINPQKDETLETEKAQYYLPDGSTIEIGPSRFRAPELLFRPDLIGEESEGIHEVLVFAIQKSDMDLRR

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Fusion Gene PPI Analysis for AUTS2-ACTR1A


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 AUTS2-ACTR1A


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 AUTS2-ACTR1A


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneAUTS2C0036341Schizophrenia2PSYGENET
HgeneAUTS2C0006413Burkitt Lymphoma1ORPHANET
HgeneAUTS2C0011860Diabetes Mellitus, Non-Insulin-Dependent1CTD_human
HgeneAUTS2C0014544Epilepsy1CTD_human
HgeneAUTS2C0086237Epilepsy, Cryptogenic1CTD_human
HgeneAUTS2C0236018Aura1CTD_human
HgeneAUTS2C0751111Awakening Epilepsy1CTD_human
HgeneAUTS2C1292769Precursor B-cell lymphoblastic leukemia1ORPHANET
HgeneAUTS2C2677504AUTISM, SUSCEPTIBILITY TO, 151GENOMICS_ENGLAND
HgeneAUTS2C4014435MENTAL RETARDATION, AUTOSOMAL DOMINANT 261CTD_human;ORPHANET