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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:AGAP1-SPATA6 (FusionGDB2 ID:HG116987TG54558)

Fusion Gene Summary for AGAP1-SPATA6

check button Fusion gene summary
Fusion gene informationFusion gene name: AGAP1-SPATA6
Fusion gene ID: hg116987tg54558
HgeneTgene
Gene symbol

AGAP1

SPATA6

Gene ID

116987

54558

Gene nameArfGAP with GTPase domain, ankyrin repeat and PH domain 1spermatogenesis associated 6
SynonymsAGAP-1|CENTG2|GGAP1|cnt-g2HASH|SRF-1|SRF1
Cytomap('AGAP1')('SPATA6')

2q37.2

1p33

Type of geneprotein-codingprotein-coding
Descriptionarf-GAP with GTPase, ANK repeat and PH domain-containing protein 1Arf GAP with GTP-binding protein-like, ANK repeat and PH domains 1GTP-binding and GTPase-activating protein 1centaurin, gamma 2spermatogenesis-associated protein 6spermatogenesis-related factor-1testicular tissue protein Li 178
Modification date2020031320200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000304032, ENST00000336665, 
ENST00000409538, ENST00000428334, 
ENST00000409457, 
Fusion gene scores* DoF score49 X 18 X 17=149946 X 5 X 6=180
# samples 487
** MAII scorelog2(48/14994*10)=-4.96520709119934
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(7/180*10)=-1.36257007938471
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: AGAP1 [Title/Abstract] AND SPATA6 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointAGAP1(236817550)-SPATA6(48764565), # samples:1
Anticipated loss of major functional domain due to fusion event.AGAP1-SPATA6 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.
AGAP1-SPATA6 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.
AGAP1-SPATA6 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.
AGAP1-SPATA6 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.
AGAP1-SPATA6 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted 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

check buttonFusion gene breakpoints across AGAP1 (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 SPATA6 (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
ChimerDB4CESCTCGA-EK-A2PM-01AAGAP1chr2

236817550

-SPATA6chr1

48764565

-


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Fusion Gene ORF analysis for AGAP1-SPATA6

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-intronENST00000304032ENST00000463938AGAP1chr2

236817550

-SPATA6chr1

48764565

-
5CDS-intronENST00000336665ENST00000463938AGAP1chr2

236817550

-SPATA6chr1

48764565

-
5CDS-intronENST00000409538ENST00000463938AGAP1chr2

236817550

-SPATA6chr1

48764565

-
5CDS-intronENST00000428334ENST00000463938AGAP1chr2

236817550

-SPATA6chr1

48764565

-
Frame-shiftENST00000304032ENST00000371843AGAP1chr2

236817550

-SPATA6chr1

48764565

-
Frame-shiftENST00000304032ENST00000371847AGAP1chr2

236817550

-SPATA6chr1

48764565

-
Frame-shiftENST00000336665ENST00000371843AGAP1chr2

236817550

-SPATA6chr1

48764565

-
Frame-shiftENST00000336665ENST00000371847AGAP1chr2

236817550

-SPATA6chr1

48764565

-
Frame-shiftENST00000409538ENST00000371843AGAP1chr2

236817550

-SPATA6chr1

48764565

-
Frame-shiftENST00000409538ENST00000371847AGAP1chr2

236817550

-SPATA6chr1

48764565

-
Frame-shiftENST00000428334ENST00000371843AGAP1chr2

236817550

-SPATA6chr1

48764565

-
Frame-shiftENST00000428334ENST00000371847AGAP1chr2

236817550

-SPATA6chr1

48764565

-
In-frameENST00000304032ENST00000396199AGAP1chr2

236817550

-SPATA6chr1

48764565

-
In-frameENST00000336665ENST00000396199AGAP1chr2

236817550

-SPATA6chr1

48764565

-
In-frameENST00000409538ENST00000396199AGAP1chr2

236817550

-SPATA6chr1

48764565

-
In-frameENST00000428334ENST00000396199AGAP1chr2

236817550

-SPATA6chr1

48764565

-
intron-3CDSENST00000409457ENST00000371843AGAP1chr2

236817550

-SPATA6chr1

48764565

-
intron-3CDSENST00000409457ENST00000371847AGAP1chr2

236817550

-SPATA6chr1

48764565

-
intron-3CDSENST00000409457ENST00000396199AGAP1chr2

236817550

-SPATA6chr1

48764565

-
intron-intronENST00000409457ENST00000463938AGAP1chr2

236817550

-SPATA6chr1

48764565

-

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)
ENST00000336665AGAP1chr2236817550-ENST00000396199SPATA6chr148764565-215019044212109562
ENST00000304032AGAP1chr2236817550-ENST00000396199SPATA6chr148764565-215019044212109562
ENST00000409538AGAP1chr2236817550-ENST00000396199SPATA6chr148764565-286126154182820800
ENST00000428334AGAP1chr2236817550-ENST00000396199SPATA6chr148764565-1108862211067348

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
ENST00000336665ENST00000396199AGAP1chr2236817550-SPATA6chr148764565-0.0035912660.99640876
ENST00000304032ENST00000396199AGAP1chr2236817550-SPATA6chr148764565-0.0035912660.99640876
ENST00000409538ENST00000396199AGAP1chr2236817550-SPATA6chr148764565-0.0056231550.99437684
ENST00000428334ENST00000396199AGAP1chr2236817550-SPATA6chr148764565-0.0055808230.99441916

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Fusion Genomic Features for AGAP1-SPATA6


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 AGAP1-SPATA6


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/chr2:236817550/chr1:48764565)
- 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
HgeneAGAP1chr2:236817550chr1:48764565ENST00000304032-1118122_126441858.0Nucleotide bindingGTP
HgeneAGAP1chr2:236817550chr1:48764565ENST00000304032-1118178_181441858.0Nucleotide bindingGTP
HgeneAGAP1chr2:236817550chr1:48764565ENST00000304032-111878_85441858.0Nucleotide bindingGTP
HgeneAGAP1chr2:236817550chr1:48764565ENST00000336665-1117122_126441805.0Nucleotide bindingGTP
HgeneAGAP1chr2:236817550chr1:48764565ENST00000336665-1117178_181441805.0Nucleotide bindingGTP
HgeneAGAP1chr2:236817550chr1:48764565ENST00000336665-111778_85441805.0Nucleotide bindingGTP
HgeneAGAP1chr2:236817550chr1:48764565ENST00000304032-111866_276441858.0RegionNote=Small GTPase-like
HgeneAGAP1chr2:236817550chr1:48764565ENST00000336665-111766_276441805.0RegionNote=Small GTPase-like

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneAGAP1chr2:236817550chr1:48764565ENST00000304032-1118346_588441858.0DomainPH
HgeneAGAP1chr2:236817550chr1:48764565ENST00000304032-1118609_729441858.0DomainArf-GAP
HgeneAGAP1chr2:236817550chr1:48764565ENST00000336665-1117346_588441805.0DomainPH
HgeneAGAP1chr2:236817550chr1:48764565ENST00000336665-1117609_729441805.0DomainArf-GAP
HgeneAGAP1chr2:236817550chr1:48764565ENST00000409457-110346_5880406.0DomainPH
HgeneAGAP1chr2:236817550chr1:48764565ENST00000409457-110609_7290406.0DomainArf-GAP
HgeneAGAP1chr2:236817550chr1:48764565ENST00000409457-110122_1260406.0Nucleotide bindingGTP
HgeneAGAP1chr2:236817550chr1:48764565ENST00000409457-110178_1810406.0Nucleotide bindingGTP
HgeneAGAP1chr2:236817550chr1:48764565ENST00000409457-11078_850406.0Nucleotide bindingGTP
HgeneAGAP1chr2:236817550chr1:48764565ENST00000409457-11066_2760406.0RegionNote=Small GTPase-like
HgeneAGAP1chr2:236817550chr1:48764565ENST00000304032-1118768_797441858.0RepeatNote=ANK 1
HgeneAGAP1chr2:236817550chr1:48764565ENST00000304032-1118801_830441858.0RepeatNote=ANK 2
HgeneAGAP1chr2:236817550chr1:48764565ENST00000336665-1117768_797441805.0RepeatNote=ANK 1
HgeneAGAP1chr2:236817550chr1:48764565ENST00000336665-1117801_830441805.0RepeatNote=ANK 2
HgeneAGAP1chr2:236817550chr1:48764565ENST00000409457-110768_7970406.0RepeatNote=ANK 1
HgeneAGAP1chr2:236817550chr1:48764565ENST00000409457-110801_8300406.0RepeatNote=ANK 2
HgeneAGAP1chr2:236817550chr1:48764565ENST00000304032-1118624_647441858.0Zinc fingerC4-type
HgeneAGAP1chr2:236817550chr1:48764565ENST00000336665-1117624_647441805.0Zinc fingerC4-type
HgeneAGAP1chr2:236817550chr1:48764565ENST00000409457-110624_6470406.0Zinc fingerC4-type


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Fusion Gene Sequence for AGAP1-SPATA6


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.
>2787_2787_1_AGAP1-SPATA6_AGAP1_chr2_236817550_ENST00000304032_SPATA6_chr1_48764565_ENST00000396199_length(transcript)=2150nt_BP=1904nt
CGCGGCTTGCAAGGCGCCTGCGACTCGGTCCCAGGTCGGCGGGCGGCGCACGGCGGGCTCGCGCGGGGGCCCCGGCGCGCCGGGCGGCGC
AGTACGCAGCGCGCGGACCCACGCCACGGCCAGGAGCCCAGAGCAGCGCGGCCACACTGCCCAGGGGTCGGCCCTCGGCCCCGGCGCTCG
GAGCGCGGCGGCTGCCTGGGCTTTAATGGCTGCTCCGCGGAGCAGCGCCTAGGGCTGGAAGGCGGCTGCGGCTCAGGAAGTCACCCGAGC
AAGCCTCCTTCGGGGCCGGCCGCACCCGCCGCGGCGCGCTCCATGGGGGCGCGCTCCCCCCGGGCGGCCCGCTGACCCGGGACGCCGGGG
CCCGCTCGCTCGCCGGCCGCGCGTCCCGGCCATGAACTGAGCCCGCGGGCCAGCCCCGCGCCTGCTCCGCCCGCGCCTTTCTTCTCGCGC
CTCCTCCGCCCGCCGCCGGCGGGCCCGGCTCCCCGGGGGCTGCGGCGCCCCGGGCTCGGCGGCCCGCGGGCCCCGGGGCGCGGGGCGGCG
GCGGCGGGGGGCGCGCGGCTCCGGGCGCGGCGCCTGCACCATGAACTACCAGCAGCAGCTGGCCAACTCGGCTGCCATCCGGGCCGAGAT
CCAGCGCTTCGAGTCGGTCCACCCCAACATCTACTCCATCTACGAGCTGCTGGAGCGCGTGGAGGAGCCGGTGCTGCAGAACCAGATCCG
GGAGCACGTCATCGCCATCGAAGATGCCTTCGTGAACAGCCAGGAATGGACGCTGAGTCGATCTGTCCCGGAGCTCAAAGTGGGAATTGT
GGGTAACTTGGCCAGCGGCAAGTCTGCCCTGGTGCACCGGTACCTGACGGGCACATATGTCCAGGAGGAGTCTCCGGAAGGTGGCAGGTT
CAAGAAAGAGATTGTCGTTGATGGACAGAGCTATCTGCTGCTGATCAGAGATGAAGGGGGCCCCCCGGAGGCGCAGTTTGCCATGTGGGT
GGACGCTGTTATATTTGTCTTCAGCTTGGAGGATGAAATAAGTTTCCAGACCGTTTACCACTACTACAGTCGAATGGCCAACTATCGGAA
CACGAGCGAGATTCCTCTGGTTCTGGTGGGAACCCAGGATGCCATAAGTTCTGCTAACCCGAGGGTCATCGATGACGCCAGGGCGAGGAA
GCTCTCCAACGACCTGAAACGGTGCACGTACTACGAGACGTGTGCTACATACGGGCTGAATGTGGAGAGGGTCTTCCAGGACGTTGCCCA
GAAGATTGTTGCCACAAGGAAGAAGCAGCAGCTGTCCATAGGACCCTGCAAGTCGCTACCTAATTCTCCCAGCCATTCCTCCGTCTGTTC
CGCGCAGGTGTCTGCCGTGCACATCAGCCAGACAAGTAATGGAGGTGGGAGTTTAAGCGACTATTCCTCCTCCGTTCCATCGACTCCCAG
CACCAGCCAGAAGGAACTTCGGATCGATGTTCCTCCCACTGCCAACACGCCCACGCCCGTTCGCAAGCAGTCTAAGCGCCGGTCCAACCT
GTTCACCTCTCGGAAAGGGAGCGACCCAGACAAAGAGAAGAAAGGCCTGGAGAGTCGTGCGGACAGCATTGGGAGCGGCCGAGCCATCCC
AATTAAACAGGGCATGCTGTTGAAGCGAAGTGGCAAATCGTTGAATAAAGAGTGGAAAAAGAAATATGTCACCCTGTGTGACAATGGCGT
GCTGACCTATCATCCCAGTTTACATGATTACATGCAGAATGTTCATGGTAAGGAGATTGACCTTCTGAGAACCACTGTGAAAGTCCCAGG
GAAGAGGCCACCCCGAGCCACGTCAGCCTGCGCACCCATCTCCAGCCCTAAAACCAATGGCCTATCCAAGGACATGAGCAGTTTACACAT
CTCACCCAATTCAGCTCATGTCAGCAGCCACGTGGCACTTTCCATTTGGATGACGGTGAATACTGGTCCAACAGGGCAGCCTCTTATAAG
GGAAAATCCCACCGACCCATCTTTGAGAACAGCATGGACAAGATGTACAGGAACTTATACAAAAAGGCCTGTAGTTCTGCTTCACATACA

>2787_2787_1_AGAP1-SPATA6_AGAP1_chr2_236817550_ENST00000304032_SPATA6_chr1_48764565_ENST00000396199_length(amino acids)=562AA_BP=489
MLRPRLSSRASSARRRRARLPGGCGAPGSAARGPRGAGRRRRGARGSGRGACTMNYQQQLANSAAIRAEIQRFESVHPNIYSIYELLERV
EEPVLQNQIREHVIAIEDAFVNSQEWTLSRSVPELKVGIVGNLASGKSALVHRYLTGTYVQEESPEGGRFKKEIVVDGQSYLLLIRDEGG
PPEAQFAMWVDAVIFVFSLEDEISFQTVYHYYSRMANYRNTSEIPLVLVGTQDAISSANPRVIDDARARKLSNDLKRCTYYETCATYGLN
VERVFQDVAQKIVATRKKQQLSIGPCKSLPNSPSHSSVCSAQVSAVHISQTSNGGGSLSDYSSSVPSTPSTSQKELRIDVPPTANTPTPV
RKQSKRRSNLFTSRKGSDPDKEKKGLESRADSIGSGRAIPIKQGMLLKRSGKSLNKEWKKKYVTLCDNGVLTYHPSLHDYMQNVHGKEID
LLRTTVKVPGKRPPRATSACAPISSPKTNGLSKDMSSLHISPNSAHVSSHVALSIWMTVNTGPTGQPLIRENPTDPSLRTAWTRCTGTYT

--------------------------------------------------------------
>2787_2787_2_AGAP1-SPATA6_AGAP1_chr2_236817550_ENST00000336665_SPATA6_chr1_48764565_ENST00000396199_length(transcript)=2150nt_BP=1904nt
CGCGGCTTGCAAGGCGCCTGCGACTCGGTCCCAGGTCGGCGGGCGGCGCACGGCGGGCTCGCGCGGGGGCCCCGGCGCGCCGGGCGGCGC
AGTACGCAGCGCGCGGACCCACGCCACGGCCAGGAGCCCAGAGCAGCGCGGCCACACTGCCCAGGGGTCGGCCCTCGGCCCCGGCGCTCG
GAGCGCGGCGGCTGCCTGGGCTTTAATGGCTGCTCCGCGGAGCAGCGCCTAGGGCTGGAAGGCGGCTGCGGCTCAGGAAGTCACCCGAGC
AAGCCTCCTTCGGGGCCGGCCGCACCCGCCGCGGCGCGCTCCATGGGGGCGCGCTCCCCCCGGGCGGCCCGCTGACCCGGGACGCCGGGG
CCCGCTCGCTCGCCGGCCGCGCGTCCCGGCCATGAACTGAGCCCGCGGGCCAGCCCCGCGCCTGCTCCGCCCGCGCCTTTCTTCTCGCGC
CTCCTCCGCCCGCCGCCGGCGGGCCCGGCTCCCCGGGGGCTGCGGCGCCCCGGGCTCGGCGGCCCGCGGGCCCCGGGGCGCGGGGCGGCG
GCGGCGGGGGGCGCGCGGCTCCGGGCGCGGCGCCTGCACCATGAACTACCAGCAGCAGCTGGCCAACTCGGCTGCCATCCGGGCCGAGAT
CCAGCGCTTCGAGTCGGTCCACCCCAACATCTACTCCATCTACGAGCTGCTGGAGCGCGTGGAGGAGCCGGTGCTGCAGAACCAGATCCG
GGAGCACGTCATCGCCATCGAAGATGCCTTCGTGAACAGCCAGGAATGGACGCTGAGTCGATCTGTCCCGGAGCTCAAAGTGGGAATTGT
GGGTAACTTGGCCAGCGGCAAGTCTGCCCTGGTGCACCGGTACCTGACGGGCACATATGTCCAGGAGGAGTCTCCGGAAGGTGGCAGGTT
CAAGAAAGAGATTGTCGTTGATGGACAGAGCTATCTGCTGCTGATCAGAGATGAAGGGGGCCCCCCGGAGGCGCAGTTTGCCATGTGGGT
GGACGCTGTTATATTTGTCTTCAGCTTGGAGGATGAAATAAGTTTCCAGACCGTTTACCACTACTACAGTCGAATGGCCAACTATCGGAA
CACGAGCGAGATTCCTCTGGTTCTGGTGGGAACCCAGGATGCCATAAGTTCTGCTAACCCGAGGGTCATCGATGACGCCAGGGCGAGGAA
GCTCTCCAACGACCTGAAACGGTGCACGTACTACGAGACGTGTGCTACATACGGGCTGAATGTGGAGAGGGTCTTCCAGGACGTTGCCCA
GAAGATTGTTGCCACAAGGAAGAAGCAGCAGCTGTCCATAGGACCCTGCAAGTCGCTACCTAATTCTCCCAGCCATTCCTCCGTCTGTTC
CGCGCAGGTGTCTGCCGTGCACATCAGCCAGACAAGTAATGGAGGTGGGAGTTTAAGCGACTATTCCTCCTCCGTTCCATCGACTCCCAG
CACCAGCCAGAAGGAACTTCGGATCGATGTTCCTCCCACTGCCAACACGCCCACGCCCGTTCGCAAGCAGTCTAAGCGCCGGTCCAACCT
GTTCACCTCTCGGAAAGGGAGCGACCCAGACAAAGAGAAGAAAGGCCTGGAGAGTCGTGCGGACAGCATTGGGAGCGGCCGAGCCATCCC
AATTAAACAGGGCATGCTGTTGAAGCGAAGTGGCAAATCGTTGAATAAAGAGTGGAAAAAGAAATATGTCACCCTGTGTGACAATGGCGT
GCTGACCTATCATCCCAGTTTACATGATTACATGCAGAATGTTCATGGTAAGGAGATTGACCTTCTGAGAACCACTGTGAAAGTCCCAGG
GAAGAGGCCACCCCGAGCCACGTCAGCCTGCGCACCCATCTCCAGCCCTAAAACCAATGGCCTATCCAAGGACATGAGCAGTTTACACAT
CTCACCCAATTCAGCTCATGTCAGCAGCCACGTGGCACTTTCCATTTGGATGACGGTGAATACTGGTCCAACAGGGCAGCCTCTTATAAG
GGAAAATCCCACCGACCCATCTTTGAGAACAGCATGGACAAGATGTACAGGAACTTATACAAAAAGGCCTGTAGTTCTGCTTCACATACA

>2787_2787_2_AGAP1-SPATA6_AGAP1_chr2_236817550_ENST00000336665_SPATA6_chr1_48764565_ENST00000396199_length(amino acids)=562AA_BP=489
MLRPRLSSRASSARRRRARLPGGCGAPGSAARGPRGAGRRRRGARGSGRGACTMNYQQQLANSAAIRAEIQRFESVHPNIYSIYELLERV
EEPVLQNQIREHVIAIEDAFVNSQEWTLSRSVPELKVGIVGNLASGKSALVHRYLTGTYVQEESPEGGRFKKEIVVDGQSYLLLIRDEGG
PPEAQFAMWVDAVIFVFSLEDEISFQTVYHYYSRMANYRNTSEIPLVLVGTQDAISSANPRVIDDARARKLSNDLKRCTYYETCATYGLN
VERVFQDVAQKIVATRKKQQLSIGPCKSLPNSPSHSSVCSAQVSAVHISQTSNGGGSLSDYSSSVPSTPSTSQKELRIDVPPTANTPTPV
RKQSKRRSNLFTSRKGSDPDKEKKGLESRADSIGSGRAIPIKQGMLLKRSGKSLNKEWKKKYVTLCDNGVLTYHPSLHDYMQNVHGKEID
LLRTTVKVPGKRPPRATSACAPISSPKTNGLSKDMSSLHISPNSAHVSSHVALSIWMTVNTGPTGQPLIRENPTDPSLRTAWTRCTGTYT

--------------------------------------------------------------
>2787_2787_3_AGAP1-SPATA6_AGAP1_chr2_236817550_ENST00000409538_SPATA6_chr1_48764565_ENST00000396199_length(transcript)=2861nt_BP=2615nt
GCGCGTTTCCATTTTAAACCGCCGCCCGCCGCCCGCCACCCGCCACCCTTCGGCCGCAGCCGGTGCAGCTGTCCGCGCGTCCCGGAGCCC
AGGGAGTGGCGGAGGCTGCGGAACCGCCGAGCTGTGCAGCCGGAGCGGGAGGATGCGCACGGGCCCCGCGTCGTAGACAATGAAGCCGCG
GGCGCCGCCGCCTGCCCTGGGCCCTGCGCACCGCGGCCGCACCTGCCGGCGAGAGCGCTCTAGCGCCTGACCGGCCGCCTCGCTTGGCCC
CGCCGGCCCATGGCTCGGCGCCCCGGGCCCGGACCCCGGCACTCGGGCGGCGCGGCGCACGGGCCGGCGGGTGCCAGGGGCGCCGTCCCC
GCAGCCTGAGTGCGGCCCTCGCGGTCAGCGGGGGGCGTGGGCCACACTCCCGGCCCGCCTGCCCTCCCCGCTTGGCCCGGCGCCCTCCCG
GCCCGCGGGCTCGCTGGATGCGGCGGGGCCCCAGCGCGCGGGCGACATGTACTTGTTGGACGGCAGTGGCGAGCCCGCGTCGCCACCCGC
GGACGCGATGCCGCGCGGGACGCCCCCCAGAAAGACTGTCTACCGCATCTCCGTGACCATGGTCAGGAAGGAGCAGCTGGCCGCGCCGGG
CTCCGGCGGCCCGGACCCACGCCCGGTTCGGCGGCCCCGGCCCGCGCGCTCCCCGGACGCGCCCGGGAGGCTTGAGGAGGAGGCCGAGGA
GGCGGAGGGCGCCGAGGAACCGGAGGGTCCCCGGCCGCGCGCTTGGGATTTCCGCACCTTCCGCACCCGCAGCACCGGGCAGCTGGAACT
GGGGCGGCTCCGGCCGTGCGCACGCGGCCTGGAACCCGCGGACCTGGCCGGCAGCGCCCCGGCCGAGGAGGAGGGACGCGGCTCGCCCGC
GTCCGGCAGCCCCGACGTGGAGGGGGCCCGGGCCGCGCCCCTGCGGCGGAGCCTGAGCTTCAGGCACTGGAGCGGGCCTGAGGCGCCGCA
AGGCCGGACACTGGGCGGCGGAAGGCGCCACAGCAGCTCCGGGAGCCTGGCCTGGGCGCCGTGCGACGAGGCCGCGGCCGGGACCACCCT
GGAGCCCGCGACCGCCACGCAGCCCGCCTCGGAGAAGCGCAACACCCTGGACGTGGGCGAGGTGCTCAGCAAGAACGACGCGCTCTCGGA
CCTGGAGCGTTGGGAACGCAGTAAGAGCAAGAACCGCACGCTGGACAACAGCGACCTGCAGCGGCTGGAGCGCGCGCGGGCGGCGGCCGG
GGCCGGCGCGGCCTCGGAGCACCGGCTGCTGCGCTTCTTCAGCGGCATCTTCGCGCGCAGGGACGGGGGCCCGGGCGGCGGGCCCTCGCC
ACGGAGCGGAGCCTCGCGGCCACGCGGCTACTTCAGCCTGCGGCGGGCCCCGGCCGAAGCGCACTCGTCCAGCGCCGAGAGCATCGACGG
CTCCCCGCGCAGAGATGCCTTCGTGAACAGCCAGGAATGGACGCTGAGTCGATCTGTCCCGGAGCTCAAAGTGGGAATTGTGGGTAACTT
GGCCAGCGGCAAGTCTGCCCTGGTGCACCGGTACCTGACGGGCACATATGTCCAGGAGGAGTCTCCGGAAGGTGGCAGGTTCAAGAAAGA
GATTGTCGTTGATGGACAGAGCTATCTGCTGCTGATCAGAGATGAAGGGGGCCCCCCGGAGGCGCAGTTTGCCATGTGGGTGGACGCTGT
TATATTTGTCTTCAGCTTGGAGGATGAAATAAGTTTCCAGACCGTTTACCACTACTACAGTCGAATGGCCAACTATCGGAACACGAGCGA
GATTCCTCTGGTTCTGGTGGGAACCCAGGATGCCATAAGTTCTGCTAACCCGAGGGTCATCGATGACGCCAGGGCGAGGAAGCTCTCCAA
CGACCTGAAACGGTGCACGTACTACGAGACGTGTGCTACATACGGGCTGAATGTGGAGAGGGTCTTCCAGGACGTTGCCCAGAAGATTGT
TGCCACAAGGAAGAAGCAGCAGCTGTCCATAGGACCCTGCAAGTCGCTACCTAATTCTCCCAGCCATTCCTCCGTCTGTTCCGCGCAGGT
GTCTGCCGTGCACATCAGCCAGACAAGTAATGGAGGTGGGAGTTTAAGCGACTATTCCTCCTCCGTTCCATCGACTCCCAGCACCAGCCA
GAAGGAACTTCGGATCGATGTTCCTCCCACTGCCAACACGCCCACGCCCGTTCGCAAGCAGTCTAAGCGCCGGTCCAACCTGTTCACCTC
TCGGAAAGGGAGCGACCCAGACAAAGAGAAGAAAGGCCTGGAGAGTCGTGCGGACAGCATTGGGAGCGGCCGAGCCATCCCAATTAAACA
GGGCATGCTGTTGAAGCGAAGTGGCAAATCGTTGAATAAAGAGTGGAAAAAGAAATATGTCACCCTGTGTGACAATGGCGTGCTGACCTA
TCATCCCAGTTTACATGATTACATGCAGAATGTTCATGGTAAGGAGATTGACCTTCTGAGAACCACTGTGAAAGTCCCAGGGAAGAGGCC
ACCCCGAGCCACGTCAGCCTGCGCACCCATCTCCAGCCCTAAAACCAATGGCCTATCCAAGGACATGAGCAGTTTACACATCTCACCCAA
TTCAGCTCATGTCAGCAGCCACGTGGCACTTTCCATTTGGATGACGGTGAATACTGGTCCAACAGGGCAGCCTCTTATAAGGGAAAATCC
CACCGACCCATCTTTGAGAACAGCATGGACAAGATGTACAGGAACTTATACAAAAAGGCCTGTAGTTCTGCTTCACATACACAGGAAAGC

>2787_2787_3_AGAP1-SPATA6_AGAP1_chr2_236817550_ENST00000409538_SPATA6_chr1_48764565_ENST00000396199_length(amino acids)=800AA_BP=727
MPSPLGPAPSRPAGSLDAAGPQRAGDMYLLDGSGEPASPPADAMPRGTPPRKTVYRISVTMVRKEQLAAPGSGGPDPRPVRRPRPARSPD
APGRLEEEAEEAEGAEEPEGPRPRAWDFRTFRTRSTGQLELGRLRPCARGLEPADLAGSAPAEEEGRGSPASGSPDVEGARAAPLRRSLS
FRHWSGPEAPQGRTLGGGRRHSSSGSLAWAPCDEAAAGTTLEPATATQPASEKRNTLDVGEVLSKNDALSDLERWERSKSKNRTLDNSDL
QRLERARAAAGAGAASEHRLLRFFSGIFARRDGGPGGGPSPRSGASRPRGYFSLRRAPAEAHSSSAESIDGSPRRDAFVNSQEWTLSRSV
PELKVGIVGNLASGKSALVHRYLTGTYVQEESPEGGRFKKEIVVDGQSYLLLIRDEGGPPEAQFAMWVDAVIFVFSLEDEISFQTVYHYY
SRMANYRNTSEIPLVLVGTQDAISSANPRVIDDARARKLSNDLKRCTYYETCATYGLNVERVFQDVAQKIVATRKKQQLSIGPCKSLPNS
PSHSSVCSAQVSAVHISQTSNGGGSLSDYSSSVPSTPSTSQKELRIDVPPTANTPTPVRKQSKRRSNLFTSRKGSDPDKEKKGLESRADS
IGSGRAIPIKQGMLLKRSGKSLNKEWKKKYVTLCDNGVLTYHPSLHDYMQNVHGKEIDLLRTTVKVPGKRPPRATSACAPISSPKTNGLS

--------------------------------------------------------------
>2787_2787_4_AGAP1-SPATA6_AGAP1_chr2_236817550_ENST00000428334_SPATA6_chr1_48764565_ENST00000396199_length(transcript)=1108nt_BP=862nt
GTTTACCACTACTACAGTCGAATGGCCAACTATCGGAACACGAGCGAGATTCCTCTGGTTCTGGTGGGAACCCAGGATGCCATAAGTTCT
GCTAACCCGAGGGTCATCGATGACGCCAGGGCGAGGAAGCTCTCCAACGACCTGAAACGGTGCACGTACTACGAGACGTGTGCTACATAC
GGGCTGAATGTGGAGAGGGTCTTCCAGGACGTTGCCCAGAAGATTGTTGCCACAAGGAAGAAGCAGCAGCTGTCCATAGGACCCTGCAAG
TCGCTACCTAATTCTCCCAGCCATTCCTCCGTCTGTTCCGCGCAGGTGTCTGCCGTGCACATCAGCCAGACAAGTAATGGAGGTGGGAGT
TTAAGCGACTATTCCTCCTCCGTTCCATCGACTCCCAGCACCAGCCAGAAGGAACTTCGGATCGATGTTCCTCCCACTGCCAACACGCCC
ACGCCCGTTCGCAAGCAGTCTAAGCGCCGGTCCAACCTGTTCACCTCTCGGAAAGGGAGCGACCCAGACAAAGAGAAGAAAGGCCTGGAG
AGTCGTGCGGACAGCATTGGGAGCGGCCGAGCCATCCCAATTAAACAGGGCATGCTGTTGAAGCGAAGTGGCAAATCGTTGAATAAAGAG
TGGAAAAAGAAATATGTCACCCTGTGTGACAATGGCGTGCTGACCTATCATCCCAGTTTACATGATTACATGCAGAATGTTCATGGTAAG
GAGATTGACCTTCTGAGAACCACTGTGAAAGTCCCAGGGAAGAGGCCACCCCGAGCCACGTCAGCCTGCGCACCCATCTCCAGCCCTAAA
ACCAATGGCCTATCCAAGGACATGAGCAGTTTACACATCTCACCCAATTCAGCTCATGTCAGCAGCCACGTGGCACTTTCCATTTGGATG
ACGGTGAATACTGGTCCAACAGGGCAGCCTCTTATAAGGGAAAATCCCACCGACCCATCTTTGAGAACAGCATGGACAAGATGTACAGGA
ACTTATACAAAAAGGCCTGTAGTTCTGCTTCACATACACAGGAAAGCTTCTGAGACCATCCATGATAAACCTCATTAGTGTCCGTGTCAA

>2787_2787_4_AGAP1-SPATA6_AGAP1_chr2_236817550_ENST00000428334_SPATA6_chr1_48764565_ENST00000396199_length(amino acids)=348AA_BP=275
MANYRNTSEIPLVLVGTQDAISSANPRVIDDARARKLSNDLKRCTYYETCATYGLNVERVFQDVAQKIVATRKKQQLSIGPCKSLPNSPS
HSSVCSAQVSAVHISQTSNGGGSLSDYSSSVPSTPSTSQKELRIDVPPTANTPTPVRKQSKRRSNLFTSRKGSDPDKEKKGLESRADSIG
SGRAIPIKQGMLLKRSGKSLNKEWKKKYVTLCDNGVLTYHPSLHDYMQNVHGKEIDLLRTTVKVPGKRPPRATSACAPISSPKTNGLSKD

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

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Fusion Gene PPI Analysis for AGAP1-SPATA6


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 AGAP1-SPATA6


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 AGAP1-SPATA6


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneAGAP1C0004352Autistic Disorder1CTD_human