Fusion Gene Studies
in Kim Lab

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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:CTPS2-AKAP8 (FusionGDB2 ID:HG56474TG10270)

Fusion Gene Summary for CTPS2-AKAP8

check button Fusion gene summary
Fusion gene informationFusion gene name: CTPS2-AKAP8
Fusion gene ID: hg56474tg10270
HgeneTgene
Gene symbol

CTPS2

AKAP8

Gene ID

56474

10270

Gene nameCTP synthase 2A-kinase anchoring protein 8
Synonyms-AKAP 95|AKAP-8|AKAP-95|AKAP95
Cytomap('CTPS2')('AKAP8')

Xp22.2

19p13.12

Type of geneprotein-codingprotein-coding
DescriptionCTP synthase 2CTP synthase IICTP synthetase type 2UTP-ammonia ligase 2cytidine 5'-triphosphate synthetase 2A-kinase anchor protein 8A kinase (PRKA) anchor protein 8A-kinase anchor protein, 95kDa
Modification date2020031320200313
UniProtAcc

Q9NRF8

.
Ensembl transtripts involved in fusion geneENST00000359276, ENST00000380241, 
ENST00000443824, ENST00000483053, 
Fusion gene scores* DoF score8 X 8 X 6=3844 X 5 X 4=80
# samples 117
** MAII scorelog2(11/384*10)=-1.8036027871965
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(7/80*10)=-0.192645077942396
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: CTPS2 [Title/Abstract] AND AKAP8 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointCTPS2(16711263)-AKAP8(15480990), # samples:2
Anticipated loss of major functional domain due to fusion event.CTPS2-AKAP8 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.
CTPS2-AKAP8 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.
CTPS2-AKAP8 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.
CTPS2-AKAP8 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

check buttonFusion gene breakpoints across CTPS2 (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 AKAP8 (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
ChimerDB4ESCATCGA-LN-A7HYCTPS2chrX

16711263

-AKAP8chr19

15480990

-


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Fusion Gene ORF analysis for CTPS2-AKAP8

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-frameENST00000359276ENST00000269701CTPS2chrX

16711263

-AKAP8chr19

15480990

-
In-frameENST00000380241ENST00000269701CTPS2chrX

16711263

-AKAP8chr19

15480990

-
In-frameENST00000443824ENST00000269701CTPS2chrX

16711263

-AKAP8chr19

15480990

-
intron-3CDSENST00000483053ENST00000269701CTPS2chrX

16711263

-AKAP8chr19

15480990

-

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)
ENST00000443824CTPS2chrX16711263-ENST00000269701AKAP8chr1915480990-395413837382423561
ENST00000359276CTPS2chrX16711263-ENST00000269701AKAP8chr1915480990-35679963512036561
ENST00000380241CTPS2chrX16711263-ENST00000269701AKAP8chr1915480990-34648931161933605

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
ENST00000443824ENST00000269701CTPS2chrX16711263-AKAP8chr1915480990-0.0005318530.99946815
ENST00000359276ENST00000269701CTPS2chrX16711263-AKAP8chr1915480990-0.0005969470.999403
ENST00000380241ENST00000269701CTPS2chrX16711263-AKAP8chr1915480990-0.0005728820.9994272

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Fusion Genomic Features for CTPS2-AKAP8


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 CTPS2-AKAP8


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/chrX:16711263/chr19:15480990)
- 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
CTPS2

Q9NRF8

.
FUNCTION: Catalyzes the ATP-dependent amination of UTP to CTP with either L-glutamine or ammonia as the source of nitrogen. Constitutes the rate-limiting enzyme in the synthesis of cytosine nucleotides. {ECO:0000269|PubMed:10899599, ECO:0000269|PubMed:16179339}.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
TgeneAKAP8chrX:16711263chr19:15480990ENST00000269701614387_450346693.0RegionInvolved in chromatin-binding
TgeneAKAP8chrX:16711263chr19:15480990ENST00000269701614525_569346693.0RegionInvolved in condensin complex recruitment
TgeneAKAP8chrX:16711263chr19:15480990ENST00000269701614572_589346693.0RegionRII-binding
TgeneAKAP8chrX:16711263chr19:15480990ENST00000269701614392_414346693.0Zinc fingerC2H2 AKAP95-type 1
TgeneAKAP8chrX:16711263chr19:15480990ENST00000269701614481_504346693.0Zinc fingerC2H2 AKAP95-type 2

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneCTPS2chrX:16711263chr19:15480990ENST00000359276-619300_554213939.6666666666666DomainGlutamine amidotransferase type-1
HgeneCTPS2chrX:16711263chr19:15480990ENST00000380241-619300_554213974.0DomainGlutamine amidotransferase type-1
HgeneCTPS2chrX:16711263chr19:15480990ENST00000443824-619300_554213911.6666666666666DomainGlutamine amidotransferase type-1
TgeneAKAP8chrX:16711263chr19:15480990ENST00000269701614107_118346693.0Compositional biasNote=Poly-Gly
TgeneAKAP8chrX:16711263chr19:15480990ENST00000269701614289_306346693.0MotifBipartite nuclear localization signal


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Fusion Gene Sequence for CTPS2-AKAP8


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.
>20415_20415_1_CTPS2-AKAP8_CTPS2_chrX_16711263_ENST00000359276_AKAP8_chr19_15480990_ENST00000269701_length(transcript)=3567nt_BP=996nt
GGGTGACGGGAGCTGCCTGTGCTGGAGGAATCACTTTTTAGGCGCTTGTTTTGGACCATTGCACAAACCCGGGTGCAAACCCCAAGCTCA
CCAGCGTGAGTGAGCTGGGCCAGCAGCAGGGAGGAGAGGGGAAGGTGGGCGAGGAGGGCGCCGCGCACCCCGAGGCCCGTGTGGGCGGTG
GGAAGATCCCGGGGGCGGCTTTGGACAGCCCCGGCAGCGACCCCTTCCCCAGCCCGACAGGTGAGCGCCAGGCCAGCCGCGGGGTGGAGC
CCGCCGTGCCCACCGGCCACCCTCCCCGGTGCTACCACCACCGCGCAGATTATATCTGGGTGTTGGCACCCAGCCACTATTCTGCCAATG
AAGTACATCCTGGTCACGGGTGGGGTCATCTCAGGCATTGGTAAAGGGATCATTGCCAGCAGCATTGGAACGATTCTAAAATCATGTGGA
CTCCGAGTTACTGCCATAAAAATCGACCCCTATATTAACATCGATGCTGGCACTTTTTCACCTTATGAACACGGTGAAGTCTTCGTCTTA
AATGATGGTGGAGAAGTTGATTTAGACCTTGGAAATTATGAAAGATTTTTGGATATTAATCTTTATAAAGACAACAATATCACCACGGGG
AAGATATATCAGCATGTGATCAATAAAGAGAGGCGTGGTGATTACCTGGGGAAAACAGTGCAAGTTGTCCCTCACATTACTGATGCTGTC
CAGGAGTGGGTTATGAATCAAGCCAAGGTGCCGGTGGATGGTAATAAGGAAGAGCCCCAAATATGCGTTATTGAGCTGGGAGGCACCATT
GGAGACATCGAAGGAATGCCGTTTGTGGAGGCGTTTAGACAATTCCAGTTTAAGGCGAAAAGAGAGAATTTCTGTAATATCCACGTTAGC
CTTGTCCCACAGCTCAGTGCTACCGGAGAACAAAAAACCAAACCCACCCAAAACAGCGTCCGCGCACTGAGGGGTTTAGGCCTGTCTCCA
GATCTGGAGGATGAACTCTGCGACTCTGGGAGGCAAAGAGGAGAGAAGGAGGACGAGGACGAGGATGTGAAGAAGAGAAGGGAAAAGCAA
AGGAGAAGAGACAGGACGCGGGACCGTGCAGCCGACAGAATTCAGTTTGCCTGTTCTGTATGCAAGTTCCGTAGCTTTGATGACGAAGAG
ATCCAGAAGCATCTGCAAAGCAAATTTCACAAAGAGACCCTGCGGTTCATAAGCACCAAGCTGCCCGACAAGACCGTGGAGTTCCTCCAG
GAATACATTGTAAACAGAAATAAGAAAATTGAGAAGCGGCGTCAGGAATTGATGGAGAAAGAAACCGCAAAACCAAAACCAGATCCTTTC
AAAGGGATTGGCCAGGAGCACTTCTTCAAGAAGATCGAGGCTGCTCACTGCCTGGCCTGCGACATGCTAATTCCTGCACAGCCGCAGCTC
CTCCAGCGGCACCTGCACTCCGTGGACCACAATCACAACCGCAGGTTGGCTGCTGAACAGTTCAAGAAAACCAGTCTCCATGTGGCTAAG
AGTGTTTTGAACAACAGACATATAGTGAAGATGCTGGAAAAATACCTCAAGGGTGAGGACCCTTTCACCAGTGAAACTGTTGATCCAGAA
ATGGAAGGAGATGACAATTTAGGAGGTGAGGATAAGAAAGAGACACCTGAGGAGGTGGCCGCGGACGTCTTAGCAGAGGTGATTACAGCA
GCAGTGAGGGCCGTAGATGGGGAAGGAGCGCCCGCTCCAGAGAGCAGCGGGGAGCCGGCTGAGGACGAAGGCCCCACGGACACAGCGGAG
GCCGGTAGTGATCCTCAAGCCGAACAGCTGCTGGAAGAGCAGGTGCCCTGTGGAACGGCACATGAGAAGGGCGTCCCCAAGGCCAGAAGT
GAGGCTGCAGAGGCTGGAAATGGCGCCGAGACAATGGCAGCAGAGGCAGAAAGTGCCCAAACCAGAGTTGCTCCTGCCCCAGCTGCCGCG
GATGCTGAAGTGGAACAAACTGATGCAGAGTCTAAAGACGCTGTTCCCACAGAATGATGCTCATTTCCCTGTTCCAGGGAAGGCGTTGGG
ATGATGGATGCGTTGGTCTTTCTCCCTTGGTTTGTAAGCAGTACAAGGGCGTGTGCTCCCAGAATATGCTGTAATCTAATTTTGGTGAAG
AGACCCAGCGTTTCCTCCTGAGCAGTGCCTCTCACGGCTTGTCTCATGCAGTCGTGTGGCTTCTTGCCCAGGTTTCAAAGCTGAAGTACA
TTGTCCTTAGCGGCTGTAACATGTCTCTTGACAGTAGTGCACTTGGAATAATAAAGGTTGGGTGATTATATCTTGATGATACATTACTTG
TTCAATACAGCCACTGATGGAATGCTTCCTTTTTTATTTTTTTCCTTAATTTTTTTTTTTATTTGGTTGGGAACAGCTGAATACTAGGAA
TATATCTTGCTCTATAGAGGATTTTTTTTTGTATGTTTCAAGCTTCAGCCTTTAACCTATACCTTTGTAGTGCACCATATGGTGTGTGAC
TTTCACAGGACTTCGCAGCACCTGGTTCACATGTGGCACTGACCGCGTCACATCCACGCACTCCCAAAGGCCAGAAGTATCTGACCGACC
TACGCCACTGGAAACACACCCACCGCAACCTCAAGAACCAGACTGTGCAGAGGGCATTGCGTCCCAATCTTTAGTCCTTGCTGAATCAGT
TCTCTAATATTTTACCTCATTTGTGTTCCACCTCTAGATTACTTCAGGTTTTTTTCCTTTAAAATTAGTTACTACCACTCAAATGTATTT
ACAAAGAGAATTTGGCCAGGCACGGTGATGCATACCTATAATCCCAGCACTTCGGGAGGCCGTGGTGAGAGGATAGCTTAAGCCCAGGAG
TTCAAGACCAACCTGGACAACATAGCAAGACCCCATCTCTTAAAAAAAAAGGAAAGAAAACTTGATGTGATTGCCATAGGTGGAATAATC
CAACATAAATTGCCATAGATAGAAGGTATCTGTAATATATATATATATATATAAAATGAAATATATGTTTCATTTTAGAGAAATAACTAT
TACTTTAGATCTTTCCAAATCTGAGAAAGGGAGGCTAGCATGTGTTCAAGGTTAGCACGCAACAGAATTTCCTAAAATCAGAAGAATTGG
AAGATCCTCCCCTTTTGAAATGGCCCTGCTGTGTCAGTTTCCCTGTGGCCTTTTGAACTGTACATCTCACATGTTGGGAAACGCTGGCCA
CTGGGAAATCATTAGAAAGGAGGCTGTAGAATATTTGCCGAGCCTCTACTGTATACCAGGGGCTAACTCACCAAGCACATTCTAGGAATT
GGGCCCTGCTCATGAGGAGCCTTAGTGGAGATTCCAGGTGAATATTTATGAAAAAGTCAACATTAGAACTGAAAATGGAAATAAACTGCT
TGAAAAGACGATGGTGCCTCTGGGTCATTTCTGCTCAGCATCCGTTTGTGTTGTGTAGATGCGTCTTAATCGCAGGGTGAGCATGCCTTT

>20415_20415_1_CTPS2-AKAP8_CTPS2_chrX_16711263_ENST00000359276_AKAP8_chr19_15480990_ENST00000269701_length(amino acids)=561AA_BP=205
MPMKYILVTGGVISGIGKGIIASSIGTILKSCGLRVTAIKIDPYINIDAGTFSPYEHGEVFVLNDGGEVDLDLGNYERFLDINLYKDNNI
TTGKIYQHVINKERRGDYLGKTVQVVPHITDAVQEWVMNQAKVPVDGNKEEPQICVIELGGTIGDIEGMPFVEAFRQFQFKAKRENFCNI
HVSLVPQLSATGEQKTKPTQNSVRALRGLGLSPDLEDELCDSGRQRGEKEDEDEDVKKRREKQRRRDRTRDRAADRIQFACSVCKFRSFD
DEEIQKHLQSKFHKETLRFISTKLPDKTVEFLQEYIVNRNKKIEKRRQELMEKETAKPKPDPFKGIGQEHFFKKIEAAHCLACDMLIPAQ
PQLLQRHLHSVDHNHNRRLAAEQFKKTSLHVAKSVLNNRHIVKMLEKYLKGEDPFTSETVDPEMEGDDNLGGEDKKETPEEVAADVLAEV
ITAAVRAVDGEGAPAPESSGEPAEDEGPTDTAEAGSDPQAEQLLEEQVPCGTAHEKGVPKARSEAAEAGNGAETMAAEAESAQTRVAPAP

--------------------------------------------------------------
>20415_20415_2_CTPS2-AKAP8_CTPS2_chrX_16711263_ENST00000380241_AKAP8_chr19_15480990_ENST00000269701_length(transcript)=3464nt_BP=893nt
AAAGGCAGGCATTCTCTTTCCTTTTCCTTCTCTCCTGAGCGCTCCTGCAGTTCCTGGGGCGTAGTAGGGGATCCACAAGCGTTTGTGACC
AGTGAAGTTCTTTACAAGGGTGAGATCTGCACGGGAGGACCCGAGCGAGGGTCTCGGCTTGCCAGGAAGCCGGGGTTCCCCGGGAAGCGT
GGAGTTCACCCGCGCACTCGAAGTGCCTTTGCAAAATTATATCTGGGTGTTGGCACCCAGCCACTATTCTGCCAATGAAGTACATCCTGG
TCACGGGTGGGGTCATCTCAGGCATTGGTAAAGGGATCATTGCCAGCAGCATTGGAACGATTCTAAAATCATGTGGACTCCGAGTTACTG
CCATAAAAATCGACCCCTATATTAACATCGATGCTGGCACTTTTTCACCTTATGAACACGGTGAAGTCTTCGTCTTAAATGATGGTGGAG
AAGTTGATTTAGACCTTGGAAATTATGAAAGATTTTTGGATATTAATCTTTATAAAGACAACAATATCACCACGGGGAAGATATATCAGC
ATGTGATCAATAAAGAGAGGCGTGGTGATTACCTGGGGAAAACAGTGCAAGTTGTCCCTCACATTACTGATGCTGTCCAGGAGTGGGTTA
TGAATCAAGCCAAGGTGCCGGTGGATGGTAATAAGGAAGAGCCCCAAATATGCGTTATTGAGCTGGGAGGCACCATTGGAGACATCGAAG
GAATGCCGTTTGTGGAGGCGTTTAGACAATTCCAGTTTAAGGCGAAAAGAGAGAATTTCTGTAATATCCACGTTAGCCTTGTCCCACAGC
TCAGTGCTACCGGAGAACAAAAAACCAAACCCACCCAAAACAGCGTCCGCGCACTGAGGGGTTTAGGCCTGTCTCCAGATCTGGAGGATG
AACTCTGCGACTCTGGGAGGCAAAGAGGAGAGAAGGAGGACGAGGACGAGGATGTGAAGAAGAGAAGGGAAAAGCAAAGGAGAAGAGACA
GGACGCGGGACCGTGCAGCCGACAGAATTCAGTTTGCCTGTTCTGTATGCAAGTTCCGTAGCTTTGATGACGAAGAGATCCAGAAGCATC
TGCAAAGCAAATTTCACAAAGAGACCCTGCGGTTCATAAGCACCAAGCTGCCCGACAAGACCGTGGAGTTCCTCCAGGAATACATTGTAA
ACAGAAATAAGAAAATTGAGAAGCGGCGTCAGGAATTGATGGAGAAAGAAACCGCAAAACCAAAACCAGATCCTTTCAAAGGGATTGGCC
AGGAGCACTTCTTCAAGAAGATCGAGGCTGCTCACTGCCTGGCCTGCGACATGCTAATTCCTGCACAGCCGCAGCTCCTCCAGCGGCACC
TGCACTCCGTGGACCACAATCACAACCGCAGGTTGGCTGCTGAACAGTTCAAGAAAACCAGTCTCCATGTGGCTAAGAGTGTTTTGAACA
ACAGACATATAGTGAAGATGCTGGAAAAATACCTCAAGGGTGAGGACCCTTTCACCAGTGAAACTGTTGATCCAGAAATGGAAGGAGATG
ACAATTTAGGAGGTGAGGATAAGAAAGAGACACCTGAGGAGGTGGCCGCGGACGTCTTAGCAGAGGTGATTACAGCAGCAGTGAGGGCCG
TAGATGGGGAAGGAGCGCCCGCTCCAGAGAGCAGCGGGGAGCCGGCTGAGGACGAAGGCCCCACGGACACAGCGGAGGCCGGTAGTGATC
CTCAAGCCGAACAGCTGCTGGAAGAGCAGGTGCCCTGTGGAACGGCACATGAGAAGGGCGTCCCCAAGGCCAGAAGTGAGGCTGCAGAGG
CTGGAAATGGCGCCGAGACAATGGCAGCAGAGGCAGAAAGTGCCCAAACCAGAGTTGCTCCTGCCCCAGCTGCCGCGGATGCTGAAGTGG
AACAAACTGATGCAGAGTCTAAAGACGCTGTTCCCACAGAATGATGCTCATTTCCCTGTTCCAGGGAAGGCGTTGGGATGATGGATGCGT
TGGTCTTTCTCCCTTGGTTTGTAAGCAGTACAAGGGCGTGTGCTCCCAGAATATGCTGTAATCTAATTTTGGTGAAGAGACCCAGCGTTT
CCTCCTGAGCAGTGCCTCTCACGGCTTGTCTCATGCAGTCGTGTGGCTTCTTGCCCAGGTTTCAAAGCTGAAGTACATTGTCCTTAGCGG
CTGTAACATGTCTCTTGACAGTAGTGCACTTGGAATAATAAAGGTTGGGTGATTATATCTTGATGATACATTACTTGTTCAATACAGCCA
CTGATGGAATGCTTCCTTTTTTATTTTTTTCCTTAATTTTTTTTTTTATTTGGTTGGGAACAGCTGAATACTAGGAATATATCTTGCTCT
ATAGAGGATTTTTTTTTGTATGTTTCAAGCTTCAGCCTTTAACCTATACCTTTGTAGTGCACCATATGGTGTGTGACTTTCACAGGACTT
CGCAGCACCTGGTTCACATGTGGCACTGACCGCGTCACATCCACGCACTCCCAAAGGCCAGAAGTATCTGACCGACCTACGCCACTGGAA
ACACACCCACCGCAACCTCAAGAACCAGACTGTGCAGAGGGCATTGCGTCCCAATCTTTAGTCCTTGCTGAATCAGTTCTCTAATATTTT
ACCTCATTTGTGTTCCACCTCTAGATTACTTCAGGTTTTTTTCCTTTAAAATTAGTTACTACCACTCAAATGTATTTACAAAGAGAATTT
GGCCAGGCACGGTGATGCATACCTATAATCCCAGCACTTCGGGAGGCCGTGGTGAGAGGATAGCTTAAGCCCAGGAGTTCAAGACCAACC
TGGACAACATAGCAAGACCCCATCTCTTAAAAAAAAAGGAAAGAAAACTTGATGTGATTGCCATAGGTGGAATAATCCAACATAAATTGC
CATAGATAGAAGGTATCTGTAATATATATATATATATATAAAATGAAATATATGTTTCATTTTAGAGAAATAACTATTACTTTAGATCTT
TCCAAATCTGAGAAAGGGAGGCTAGCATGTGTTCAAGGTTAGCACGCAACAGAATTTCCTAAAATCAGAAGAATTGGAAGATCCTCCCCT
TTTGAAATGGCCCTGCTGTGTCAGTTTCCCTGTGGCCTTTTGAACTGTACATCTCACATGTTGGGAAACGCTGGCCACTGGGAAATCATT
AGAAAGGAGGCTGTAGAATATTTGCCGAGCCTCTACTGTATACCAGGGGCTAACTCACCAAGCACATTCTAGGAATTGGGCCCTGCTCAT
GAGGAGCCTTAGTGGAGATTCCAGGTGAATATTTATGAAAAAGTCAACATTAGAACTGAAAATGGAAATAAACTGCTTGAAAAGACGATG
GTGCCTCTGGGTCATTTCTGCTCAGCATCCGTTTGTGTTGTGTAGATGCGTCTTAATCGCAGGGTGAGCATGCCTTTTAAGCTTGTTCTC

>20415_20415_2_CTPS2-AKAP8_CTPS2_chrX_16711263_ENST00000380241_AKAP8_chr19_15480990_ENST00000269701_length(amino acids)=605AA_BP=249
MHGRTRARVSACQEAGVPREAWSSPAHSKCLCKIISGCWHPATILPMKYILVTGGVISGIGKGIIASSIGTILKSCGLRVTAIKIDPYIN
IDAGTFSPYEHGEVFVLNDGGEVDLDLGNYERFLDINLYKDNNITTGKIYQHVINKERRGDYLGKTVQVVPHITDAVQEWVMNQAKVPVD
GNKEEPQICVIELGGTIGDIEGMPFVEAFRQFQFKAKRENFCNIHVSLVPQLSATGEQKTKPTQNSVRALRGLGLSPDLEDELCDSGRQR
GEKEDEDEDVKKRREKQRRRDRTRDRAADRIQFACSVCKFRSFDDEEIQKHLQSKFHKETLRFISTKLPDKTVEFLQEYIVNRNKKIEKR
RQELMEKETAKPKPDPFKGIGQEHFFKKIEAAHCLACDMLIPAQPQLLQRHLHSVDHNHNRRLAAEQFKKTSLHVAKSVLNNRHIVKMLE
KYLKGEDPFTSETVDPEMEGDDNLGGEDKKETPEEVAADVLAEVITAAVRAVDGEGAPAPESSGEPAEDEGPTDTAEAGSDPQAEQLLEE

--------------------------------------------------------------
>20415_20415_3_CTPS2-AKAP8_CTPS2_chrX_16711263_ENST00000443824_AKAP8_chr19_15480990_ENST00000269701_length(transcript)=3954nt_BP=1383nt
TCCTTTGTCCGCTCTCTGATGGCGCCGGCTCCCTGCCCAGCGCTGAGTCGGGTCCGGCCGCCAGCCCCGCGCTCGCAGACCTCGGCTGCC
GGGTGTGGCGCGGGGACTGGGGAACGCTGGCCCGTGCCCAGTGCGGTTGGAGCCTGTCCCGCGCGTCCCCGGGACGCGCTTCTTCCCGCC
TCCGCCCGCGCCAGCGCCCGCACCCGGATCCCCACTTCTCCCGGCCCTCGGGAGCCAGGAGAGCCCTGAGATGGCGTTGGCGGAAGTGAA
GCCCCGAGCGGGGGTCTGCGAGGCTGGTGATCAGCGCCGGTAACATGGCCTTTCTGTCCTCTCCCCGGTCCCAGTGCACCCCTTAAACAA
CGACCCCCGCGTTTTCCCCGTACTAGATGGTTAGGGCGCATAGTGCCGAACTACGCTGCTGCTACAGAATAGCTTTTTTGGGGGCAACAT
AAAAAAGAATTGTATGTATGGTTTATATACAACAAAATGTCCCATTTTCAGTGTGCAAATCGACGGGATTTGACAAATTATACACTCCTG
TAACCATTATCCCAAAGTGAACATTGACCATTTCCTTCACCCTGCAAAGTTCCCTGGTACCTCCTTTCTGTCAATCCACCCCAGGCCCCG
CACTCAACCCCGGTTCTGATTGTTATCATAGCTTAGCTTTGACTGTTCTAGAACTTCATAGAACAAGATCATCAGATTATATCTGGGTGT
TGGCACCCAGCCACTATTCTGCCAATGAAGTACATCCTGGTCACGGGTGGGGTCATCTCAGGCATTGGTAAAGGGATCATTGCCAGCAGC
ATTGGAACGATTCTAAAATCATGTGGACTCCGAGTTACTGCCATAAAAATCGACCCCTATATTAACATCGATGCTGGCACTTTTTCACCT
TATGAACACGGTGAAGTCTTCGTCTTAAATGATGGTGGAGAAGTTGATTTAGACCTTGGAAATTATGAAAGATTTTTGGATATTAATCTT
TATAAAGACAACAATATCACCACGGGGAAGATATATCAGCATGTGATCAATAAAGAGAGGCGTGGTGATTACCTGGGGAAAACAGTGCAA
GTTGTCCCTCACATTACTGATGCTGTCCAGGAGTGGGTTATGAATCAAGCCAAGGTGCCGGTGGATGGTAATAAGGAAGAGCCCCAAATA
TGCGTTATTGAGCTGGGAGGCACCATTGGAGACATCGAAGGAATGCCGTTTGTGGAGGCGTTTAGACAATTCCAGTTTAAGGCGAAAAGA
GAGAATTTCTGTAATATCCACGTTAGCCTTGTCCCACAGCTCAGTGCTACCGGAGAACAAAAAACCAAACCCACCCAAAACAGCGTCCGC
GCACTGAGGGGTTTAGGCCTGTCTCCAGATCTGGAGGATGAACTCTGCGACTCTGGGAGGCAAAGAGGAGAGAAGGAGGACGAGGACGAG
GATGTGAAGAAGAGAAGGGAAAAGCAAAGGAGAAGAGACAGGACGCGGGACCGTGCAGCCGACAGAATTCAGTTTGCCTGTTCTGTATGC
AAGTTCCGTAGCTTTGATGACGAAGAGATCCAGAAGCATCTGCAAAGCAAATTTCACAAAGAGACCCTGCGGTTCATAAGCACCAAGCTG
CCCGACAAGACCGTGGAGTTCCTCCAGGAATACATTGTAAACAGAAATAAGAAAATTGAGAAGCGGCGTCAGGAATTGATGGAGAAAGAA
ACCGCAAAACCAAAACCAGATCCTTTCAAAGGGATTGGCCAGGAGCACTTCTTCAAGAAGATCGAGGCTGCTCACTGCCTGGCCTGCGAC
ATGCTAATTCCTGCACAGCCGCAGCTCCTCCAGCGGCACCTGCACTCCGTGGACCACAATCACAACCGCAGGTTGGCTGCTGAACAGTTC
AAGAAAACCAGTCTCCATGTGGCTAAGAGTGTTTTGAACAACAGACATATAGTGAAGATGCTGGAAAAATACCTCAAGGGTGAGGACCCT
TTCACCAGTGAAACTGTTGATCCAGAAATGGAAGGAGATGACAATTTAGGAGGTGAGGATAAGAAAGAGACACCTGAGGAGGTGGCCGCG
GACGTCTTAGCAGAGGTGATTACAGCAGCAGTGAGGGCCGTAGATGGGGAAGGAGCGCCCGCTCCAGAGAGCAGCGGGGAGCCGGCTGAG
GACGAAGGCCCCACGGACACAGCGGAGGCCGGTAGTGATCCTCAAGCCGAACAGCTGCTGGAAGAGCAGGTGCCCTGTGGAACGGCACAT
GAGAAGGGCGTCCCCAAGGCCAGAAGTGAGGCTGCAGAGGCTGGAAATGGCGCCGAGACAATGGCAGCAGAGGCAGAAAGTGCCCAAACC
AGAGTTGCTCCTGCCCCAGCTGCCGCGGATGCTGAAGTGGAACAAACTGATGCAGAGTCTAAAGACGCTGTTCCCACAGAATGATGCTCA
TTTCCCTGTTCCAGGGAAGGCGTTGGGATGATGGATGCGTTGGTCTTTCTCCCTTGGTTTGTAAGCAGTACAAGGGCGTGTGCTCCCAGA
ATATGCTGTAATCTAATTTTGGTGAAGAGACCCAGCGTTTCCTCCTGAGCAGTGCCTCTCACGGCTTGTCTCATGCAGTCGTGTGGCTTC
TTGCCCAGGTTTCAAAGCTGAAGTACATTGTCCTTAGCGGCTGTAACATGTCTCTTGACAGTAGTGCACTTGGAATAATAAAGGTTGGGT
GATTATATCTTGATGATACATTACTTGTTCAATACAGCCACTGATGGAATGCTTCCTTTTTTATTTTTTTCCTTAATTTTTTTTTTTATT
TGGTTGGGAACAGCTGAATACTAGGAATATATCTTGCTCTATAGAGGATTTTTTTTTGTATGTTTCAAGCTTCAGCCTTTAACCTATACC
TTTGTAGTGCACCATATGGTGTGTGACTTTCACAGGACTTCGCAGCACCTGGTTCACATGTGGCACTGACCGCGTCACATCCACGCACTC
CCAAAGGCCAGAAGTATCTGACCGACCTACGCCACTGGAAACACACCCACCGCAACCTCAAGAACCAGACTGTGCAGAGGGCATTGCGTC
CCAATCTTTAGTCCTTGCTGAATCAGTTCTCTAATATTTTACCTCATTTGTGTTCCACCTCTAGATTACTTCAGGTTTTTTTCCTTTAAA
ATTAGTTACTACCACTCAAATGTATTTACAAAGAGAATTTGGCCAGGCACGGTGATGCATACCTATAATCCCAGCACTTCGGGAGGCCGT
GGTGAGAGGATAGCTTAAGCCCAGGAGTTCAAGACCAACCTGGACAACATAGCAAGACCCCATCTCTTAAAAAAAAAGGAAAGAAAACTT
GATGTGATTGCCATAGGTGGAATAATCCAACATAAATTGCCATAGATAGAAGGTATCTGTAATATATATATATATATATAAAATGAAATA
TATGTTTCATTTTAGAGAAATAACTATTACTTTAGATCTTTCCAAATCTGAGAAAGGGAGGCTAGCATGTGTTCAAGGTTAGCACGCAAC
AGAATTTCCTAAAATCAGAAGAATTGGAAGATCCTCCCCTTTTGAAATGGCCCTGCTGTGTCAGTTTCCCTGTGGCCTTTTGAACTGTAC
ATCTCACATGTTGGGAAACGCTGGCCACTGGGAAATCATTAGAAAGGAGGCTGTAGAATATTTGCCGAGCCTCTACTGTATACCAGGGGC
TAACTCACCAAGCACATTCTAGGAATTGGGCCCTGCTCATGAGGAGCCTTAGTGGAGATTCCAGGTGAATATTTATGAAAAAGTCAACAT
TAGAACTGAAAATGGAAATAAACTGCTTGAAAAGACGATGGTGCCTCTGGGTCATTTCTGCTCAGCATCCGTTTGTGTTGTGTAGATGCG

>20415_20415_3_CTPS2-AKAP8_CTPS2_chrX_16711263_ENST00000443824_AKAP8_chr19_15480990_ENST00000269701_length(amino acids)=561AA_BP=205
MPMKYILVTGGVISGIGKGIIASSIGTILKSCGLRVTAIKIDPYINIDAGTFSPYEHGEVFVLNDGGEVDLDLGNYERFLDINLYKDNNI
TTGKIYQHVINKERRGDYLGKTVQVVPHITDAVQEWVMNQAKVPVDGNKEEPQICVIELGGTIGDIEGMPFVEAFRQFQFKAKRENFCNI
HVSLVPQLSATGEQKTKPTQNSVRALRGLGLSPDLEDELCDSGRQRGEKEDEDEDVKKRREKQRRRDRTRDRAADRIQFACSVCKFRSFD
DEEIQKHLQSKFHKETLRFISTKLPDKTVEFLQEYIVNRNKKIEKRRQELMEKETAKPKPDPFKGIGQEHFFKKIEAAHCLACDMLIPAQ
PQLLQRHLHSVDHNHNRRLAAEQFKKTSLHVAKSVLNNRHIVKMLEKYLKGEDPFTSETVDPEMEGDDNLGGEDKKETPEEVAADVLAEV
ITAAVRAVDGEGAPAPESSGEPAEDEGPTDTAEAGSDPQAEQLLEEQVPCGTAHEKGVPKARSEAAEAGNGAETMAAEAESAQTRVAPAP

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Fusion Gene PPI Analysis for CTPS2-AKAP8


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
TgeneAKAP8chrX:16711263chr19:15480990ENST00000269701614109_201346.0693.0DDX5
TgeneAKAP8chrX:16711263chr19:15480990ENST000002697016141_210346.0693.0DPY30
TgeneAKAP8chrX:16711263chr19:15480990ENST000002697016141_195346.0693.0MCM2


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 CTPS2-AKAP8


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 CTPS2-AKAP8


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneC0041696Unipolar Depression1PSYGENET
TgeneC1269683Major Depressive Disorder1PSYGENET