Fusion Gene Studies
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:ATP6AP2-EIF3M (FusionGDB2 ID:HG10159TG10480)

Fusion Gene Summary for ATP6AP2-EIF3M

check button Fusion gene summary
Fusion gene informationFusion gene name: ATP6AP2-EIF3M
Fusion gene ID: hg10159tg10480
HgeneTgene
Gene symbol

ATP6AP2

EIF3M

Gene ID

10159

10480

Gene nameATPase H+ transporting accessory protein 2eukaryotic translation initiation factor 3 subunit M
SynonymsAPT6M8-9|ATP6IP2|ATP6M8-9|ELDF10|HT028|M8-9|MRXE|MRXSH|MSTP009|PRR|RENR|XMRE|XPDSB5|GA17|PCID1|TANGO7|hfl-B5
Cytomap('ATP6AP2')('EIF3M')

Xp11.4

11p13

Type of geneprotein-codingprotein-coding
Descriptionrenin receptorATPase H(+)-transporting lysosomal-interacting protein 2ATPase, H+ transporting, lysosomal (vacuolar proton pump) membrane sector associated protein M8-9ATPase, H+ transporting, lysosomal accessory protein 2ATPase, H+ transporting, lysoseukaryotic translation initiation factor 3 subunit MB5 receptorPCI domain containing 1 (herpesvirus entry mediator)PCI domain-containing protein 1dendritic cell proteinfetal lung protein B5transport and golgi organization 7 homolog
Modification date2020031320200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000378438, ENST00000486558, 
ENST00000535539, ENST00000535777, 
ENST00000544975, 
Fusion gene scores* DoF score5 X 4 X 2=4010 X 7 X 6=420
# samples 511
** MAII scorelog2(5/40*10)=0.321928094887362
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(11/420*10)=-1.93288580414146
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ATP6AP2 [Title/Abstract] AND EIF3M [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointATP6AP2(40465889)-EIF3M(32611132), # samples:1
Anticipated loss of major functional domain due to fusion event.ATP6AP2-EIF3M 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.
ATP6AP2-EIF3M 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
HgeneATP6AP2

GO:0002003

angiotensin maturation

12045255|15746149

HgeneATP6AP2

GO:0032914

positive regulation of transforming growth factor beta1 production

16374430

HgeneATP6AP2

GO:0043408

regulation of MAPK cascade

12045255|15746149


check buttonFusion gene breakpoints across ATP6AP2 (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 EIF3M (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 from two resources (ChiTars 5.0 and ChimerDB 4.0)
* All genome coordinats were lifted-over on hg19.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChimerDB4PRADTCGA-G9-6348-01AATP6AP2chrX

40465889

-EIF3Mchr11

32611132

+


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Fusion Gene ORF analysis for ATP6AP2-EIF3M

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-intronENST00000378438ENST00000532054ATP6AP2chrX

40465889

-EIF3Mchr11

32611132

+
In-frameENST00000378438ENST00000524896ATP6AP2chrX

40465889

-EIF3Mchr11

32611132

+
In-frameENST00000378438ENST00000531120ATP6AP2chrX

40465889

-EIF3Mchr11

32611132

+
intron-3CDSENST00000486558ENST00000524896ATP6AP2chrX

40465889

-EIF3Mchr11

32611132

+
intron-3CDSENST00000486558ENST00000531120ATP6AP2chrX

40465889

-EIF3Mchr11

32611132

+
intron-3CDSENST00000535539ENST00000524896ATP6AP2chrX

40465889

-EIF3Mchr11

32611132

+
intron-3CDSENST00000535539ENST00000531120ATP6AP2chrX

40465889

-EIF3Mchr11

32611132

+
intron-3CDSENST00000535777ENST00000524896ATP6AP2chrX

40465889

-EIF3Mchr11

32611132

+
intron-3CDSENST00000535777ENST00000531120ATP6AP2chrX

40465889

-EIF3Mchr11

32611132

+
intron-3CDSENST00000544975ENST00000524896ATP6AP2chrX

40465889

-EIF3Mchr11

32611132

+
intron-3CDSENST00000544975ENST00000531120ATP6AP2chrX

40465889

-EIF3Mchr11

32611132

+
intron-intronENST00000486558ENST00000532054ATP6AP2chrX

40465889

-EIF3Mchr11

32611132

+
intron-intronENST00000535539ENST00000532054ATP6AP2chrX

40465889

-EIF3Mchr11

32611132

+
intron-intronENST00000535777ENST00000532054ATP6AP2chrX

40465889

-EIF3Mchr11

32611132

+
intron-intronENST00000544975ENST00000532054ATP6AP2chrX

40465889

-EIF3Mchr11

32611132

+

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)
ENST00000378438ATP6AP2chrX40465889-ENST00000531120EIF3Mchr1132611132+66032093561210384
ENST00000378438ATP6AP2chrX40465889-ENST00000524896EIF3Mchr1132611132+31642093561210384

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
ENST00000378438ENST00000531120ATP6AP2chrX40465889-EIF3Mchr1132611132+7.36E-050.9999263
ENST00000378438ENST00000524896ATP6AP2chrX40465889-EIF3Mchr1132611132+9.81E-050.9999019

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Fusion Genomic Features for ATP6AP2-EIF3M


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 ATP6AP2-EIF3M


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:40465889/chr11:32611132)
- 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
HgeneATP6AP2chrX:40465889chr11:32611132ENST00000378438-99346_350645351.0MotifMediates retrograde transport to the ER
HgeneATP6AP2chrX:40465889chr11:32611132ENST00000378438-9917_302645351.0Topological domainExtracellular
HgeneATP6AP2chrX:40465889chr11:32611132ENST00000378438-99324_350645351.0Topological domainCytoplasmic
HgeneATP6AP2chrX:40465889chr11:32611132ENST00000378438-99303_323645351.0TransmembraneHelical
TgeneEIF3MchrX:40465889chr11:32611132ENST00000531120011180_3390375.0DomainPCI

- 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 ATP6AP2-EIF3M


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.
>8072_8072_1_ATP6AP2-EIF3M_ATP6AP2_chrX_40465889_ENST00000378438_EIF3M_chr11_32611132_ENST00000524896_length(transcript)=3164nt_BP=2093nt
GTGGAGAAAGCGGCAGCTGTCCCAGCGGAAGCGACGAAGGGACGGGACCCGGGAGCCTGGACGAGTCCGAGCGCGTCACCTCCTCACGCT
GCGGCTGTCGCCCGTGTCCCGCCGGCCCGTTCCGTGTCGCCCCGCAGTGCTGCGGCCGCCGCGGCACCATGGCTGTGTTTGTCGTGCTCC
TGGCGTTGGTGGCGGGTGTTTTGGGGAACGAGTTTAGTATATTAAAATCACCAGGGTCTGTTGTTTTCCGAAATGGAAATTGGCCTATAC
CAGGAGAGCGGATCCCAGACGTGGCTGCATTGTCCATGGGCTTCTCTGTGAAAGAAGACCTTTCTTGGCCAGGACTCGCAGTGGGTAACC
TGTTTCATCGTCCTCGGGCTACCGTCATGGTGATGGTGAAGGGAGTGAACAAACTGGCTCTACCCCCAGGCAGTGTCATTTCGTACCCTT
TGGAGAATGCAGTTCCTTTTAGTCTTGACAGTGTTGCAAATTCCATTCACTCCTTATTTTCTGAGGAAACTCCTGTTGTTTTGCAGTTGG
CTCCCAGTGAGGAAAGAGTGTATATGGTAGGGAAGGCAAACTCAGTGTTTGAAGACCTTTCAGTCACCTTGCGCCAGCTCCGTAATCGCC
TGTTTCAAGAAAACTCTGTTCTCAGTTCACTCCCCCTCAATTCTCTGAGTAGGAACAATGAAGTTGACCTGCTCTTTCTTTCTGAACTGC
AAGTGCTACATGATATTTCAAGCTTGCTGTCTCGTCATAAGCATCTAGCCAAGGATCATTCTCCTGATTTATATTCACTGGAGCTGGCAG
GTTTGGATGAAATTGGGAAGCGTTATGGGGAAGACTCTGAACAATTCAGAGATGCTTCTAAGATCCTTGTTGACGCTCTGCAAAAGTTTG
CAGATGACATGTACAGTCTTTATGGTGGGAATGCAGTGGTAGAGTTAGTCACTGTCAAGTCATTTGACACCTCCCTCATTAGGAAGACAA
GGACTATCCTTGAGGCAAAACAAGCGAAGAACCCAGCAAGTCCCTATAACCTTGCATATAAGTATAATTTTGAATATTCCGTGGTTTTCA
ACATGGTACTTTGGATAATGATCGCCTTGGCCTTGGCTGTGATTATCACCTCTTACAATATTTGGAACATGGATCCTGGATATGATAGCA
TCATTTATAGGATGACAAACCAGAAGATTCGAATGGATTGAATGTTACCTGTGCCAGAATTAGAAAAGGGGGTTGGAAATTGGCTGTTTT
GTTAAAATATATCTTTTAGTGTGCTTTAAAGTAGATAGTATACTTTACATTTATAAAAAAAAATCAAATTTTGTTCTTTATTTTGTGTGT
GCCTGTGATGTTTTTCTAGAGTGAATTATAGTATTGACGTGAATCCCACTGTGGTATAGATTCCATAATATGCTTGAATATTATGATATA
GCCATTTAATAACATTGATTTCATTCTGTTTAATGAATTTGGAAATATGCACTGAAAGAAATGTAAAACATTTAGAATAGCTCGTGTTAT
GGAAAAAAGTGCACTGAATTTATTAGACAAACTTACGAATGCTTAACTTCTTTACACAGCATAGGTGAAAATCATATTTGGGCTATTGTA
TACTATGAACAATTTGTAAATGTCTTAATTTGATGTAAATAACTCTGAAACAAGAGAAAAGGTTTTTAACTTAGAGTAGCCCTAAAATAT
GGATGTGCTTATATAATCGCTTAGTTTTGGAACTGTATCTGAGTAACAGAGGACAGCTGTTTTTTAACCCTCTTCTGCAAGTTTGTTGAC
CTACATGGGCTAATATGGATACTAAAAATACTACATTGATCTAAGAAGAAACTAGCCTTGTGGAGTATATAGATGCTTTTCATTATACAC
ACAAAAATCCCTGAGGGACATTTTGAGGCATGAATATAAAACATTTTTATTTCAGTAACTTTTCCCCCTGTGTAAGTTACTATGGTTTGT
GGTACAACTTCATTCTATAGAATATTAAGTGGAAGTGGGTGAATTCTACTTTTTATGTTGGAGTGGACCAATGTCTATCAAGAGTGACAA
ATAAAGTTAATGATGATTCCAAAAAAAGCACACCCTTTTAAGACTACTTTATGAGGCACTTGTGGATTGTAAGAAGAGTGATGCTGCTTC
AAAAGTCATGGTGGAATTGCTCGGAAGTTACACAGAGGACAATGCTTCCCAGGCTCGAGTTGATGCCCACAGGTGTATTGTACGAGCATT
GAAAGATCCAAATGCATTTCTTTTTGACCACCTTCTTACTTTAAAACCAGTCAAGTTTTTGGAAGGCGAGCTTATTCATGATCTTTTAAC
CATTTTTGTGAGTGCTAAATTGGCATCATATGTCAAGTTTTATCAGAATAATAAAGACTTCATTGATTCACTTGGCCTGTTACATGAACA
GAATATGGCAAAAATGAGACTACTTACTTTTATGGGAATGGCAGTAGAAAATAAGGAAATTTCTTTTGACACAATGCAGCAAGAACTTCA
GATTGGAGCTGATGATGTTGAAGCATTTGTTATTGACGCCGTAAGAACTAAAATGGTCTACTGCAAAATTGATCAGACCCAGAGAAAAGT
AGTTGTCAGTCATAGCACACATCGGACATTTGGAAAACAGCAGTGGCAACAACTGTATGACACACTTAATGCCTGGAAACAAAATCTGAA
CAAAGTGAAAAACAGCCTTTTGAGTCTTTCTGATACCTGAGTTTTTATGCTTATAATTTTTGTTCTTTGAAAAAAAAGCCCTAAATCATA
GTAAAACATTATAAACTAAAAAAATTTGCCTAGTCTGGACAGTTATTGTCTCAAATTTATACTAAAATCACAAACTCCAGAGGATATGAA
GTAATAAATTACAAGGGGTCACAATGTCTGTCATACAATACATAAATTCTGTTCTTTAAAAAAGGATATTGAAGAAGCAATGAGCACTTT
AAAGAAAGGATAATATACAGAGAGAAGACAGAAGTAGAGTAATACAATTTCTTCACATTAGAAAAACTTGGAAAAGCAAAGACAAACTGT
AGAGCTTTAAATACAACAGTCATTTTATTCTAGTAAAAACTATACCAGAATTTCAGTTACATAATTTCACTACTGAAAGCACTTATCTAC

>8072_8072_1_ATP6AP2-EIF3M_ATP6AP2_chrX_40465889_ENST00000378438_EIF3M_chr11_32611132_ENST00000524896_length(amino acids)=384AA_BP=
MDESERVTSSRCGCRPCPAGPFRVAPQCCGRRGTMAVFVVLLALVAGVLGNEFSILKSPGSVVFRNGNWPIPGERIPDVAALSMGFSVKE
DLSWPGLAVGNLFHRPRATVMVMVKGVNKLALPPGSVISYPLENAVPFSLDSVANSIHSLFSEETPVVLQLAPSEERVYMVGKANSVFED
LSVTLRQLRNRLFQENSVLSSLPLNSLSRNNEVDLLFLSELQVLHDISSLLSRHKHLAKDHSPDLYSLELAGLDEIGKRYGEDSEQFRDA
SKILVDALQKFADDMYSLYGGNAVVELVTVKSFDTSLIRKTRTILEAKQAKNPASPYNLAYKYNFEYSVVFNMVLWIMIALALAVIITSY

--------------------------------------------------------------
>8072_8072_2_ATP6AP2-EIF3M_ATP6AP2_chrX_40465889_ENST00000378438_EIF3M_chr11_32611132_ENST00000531120_length(transcript)=6603nt_BP=2093nt
GTGGAGAAAGCGGCAGCTGTCCCAGCGGAAGCGACGAAGGGACGGGACCCGGGAGCCTGGACGAGTCCGAGCGCGTCACCTCCTCACGCT
GCGGCTGTCGCCCGTGTCCCGCCGGCCCGTTCCGTGTCGCCCCGCAGTGCTGCGGCCGCCGCGGCACCATGGCTGTGTTTGTCGTGCTCC
TGGCGTTGGTGGCGGGTGTTTTGGGGAACGAGTTTAGTATATTAAAATCACCAGGGTCTGTTGTTTTCCGAAATGGAAATTGGCCTATAC
CAGGAGAGCGGATCCCAGACGTGGCTGCATTGTCCATGGGCTTCTCTGTGAAAGAAGACCTTTCTTGGCCAGGACTCGCAGTGGGTAACC
TGTTTCATCGTCCTCGGGCTACCGTCATGGTGATGGTGAAGGGAGTGAACAAACTGGCTCTACCCCCAGGCAGTGTCATTTCGTACCCTT
TGGAGAATGCAGTTCCTTTTAGTCTTGACAGTGTTGCAAATTCCATTCACTCCTTATTTTCTGAGGAAACTCCTGTTGTTTTGCAGTTGG
CTCCCAGTGAGGAAAGAGTGTATATGGTAGGGAAGGCAAACTCAGTGTTTGAAGACCTTTCAGTCACCTTGCGCCAGCTCCGTAATCGCC
TGTTTCAAGAAAACTCTGTTCTCAGTTCACTCCCCCTCAATTCTCTGAGTAGGAACAATGAAGTTGACCTGCTCTTTCTTTCTGAACTGC
AAGTGCTACATGATATTTCAAGCTTGCTGTCTCGTCATAAGCATCTAGCCAAGGATCATTCTCCTGATTTATATTCACTGGAGCTGGCAG
GTTTGGATGAAATTGGGAAGCGTTATGGGGAAGACTCTGAACAATTCAGAGATGCTTCTAAGATCCTTGTTGACGCTCTGCAAAAGTTTG
CAGATGACATGTACAGTCTTTATGGTGGGAATGCAGTGGTAGAGTTAGTCACTGTCAAGTCATTTGACACCTCCCTCATTAGGAAGACAA
GGACTATCCTTGAGGCAAAACAAGCGAAGAACCCAGCAAGTCCCTATAACCTTGCATATAAGTATAATTTTGAATATTCCGTGGTTTTCA
ACATGGTACTTTGGATAATGATCGCCTTGGCCTTGGCTGTGATTATCACCTCTTACAATATTTGGAACATGGATCCTGGATATGATAGCA
TCATTTATAGGATGACAAACCAGAAGATTCGAATGGATTGAATGTTACCTGTGCCAGAATTAGAAAAGGGGGTTGGAAATTGGCTGTTTT
GTTAAAATATATCTTTTAGTGTGCTTTAAAGTAGATAGTATACTTTACATTTATAAAAAAAAATCAAATTTTGTTCTTTATTTTGTGTGT
GCCTGTGATGTTTTTCTAGAGTGAATTATAGTATTGACGTGAATCCCACTGTGGTATAGATTCCATAATATGCTTGAATATTATGATATA
GCCATTTAATAACATTGATTTCATTCTGTTTAATGAATTTGGAAATATGCACTGAAAGAAATGTAAAACATTTAGAATAGCTCGTGTTAT
GGAAAAAAGTGCACTGAATTTATTAGACAAACTTACGAATGCTTAACTTCTTTACACAGCATAGGTGAAAATCATATTTGGGCTATTGTA
TACTATGAACAATTTGTAAATGTCTTAATTTGATGTAAATAACTCTGAAACAAGAGAAAAGGTTTTTAACTTAGAGTAGCCCTAAAATAT
GGATGTGCTTATATAATCGCTTAGTTTTGGAACTGTATCTGAGTAACAGAGGACAGCTGTTTTTTAACCCTCTTCTGCAAGTTTGTTGAC
CTACATGGGCTAATATGGATACTAAAAATACTACATTGATCTAAGAAGAAACTAGCCTTGTGGAGTATATAGATGCTTTTCATTATACAC
ACAAAAATCCCTGAGGGACATTTTGAGGCATGAATATAAAACATTTTTATTTCAGTAACTTTTCCCCCTGTGTAAGTTACTATGGTTTGT
GGTACAACTTCATTCTATAGAATATTAAGTGGAAGTGGGTGAATTCTACTTTTTATGTTGGAGTGGACCAATGTCTATCAAGAGTGACAA
ATAAAGTTAATGATGATTCCAAAAAAAGCACACCCTTTTAAGACTACTTTATGAGGCACTTGTGGATTGTAAGAAGAGTGATGCTGCTTC
AAAAGTCATGGTGGAATTGCTCGGAAGTTACACAGAGGACAATGCTTCCCAGGCTCGAGTTGATGCCCACAGGTGTATTGTACGAGCATT
GAAAGATCCAAATGCATTTCTTTTTGACCACCTTCTTACTTTAAAACCAGTCAAGTTTTTGGAAGGCGAGCTTATTCATGATCTTTTAAC
CATTTTTGTGAGTGCTAAATTGGCATCATATGTCAAGTTTTATCAGAATAATAAAGACTTCATTGATTCACTTGGCCTGTTACATGAACA
GAATATGGCAAAAATGAGACTACTTACTTTTATGGGAATGGCAGTAGAAAATAAGGAAATTTCTTTTGACACAATGCAGCAAGAACTTCA
GATTGGAGCTGATGATGTTGAAGCATTTGTTATTGACGCCGTAAGAACTAAAATGGTCTACTGCAAAATTGATCAGACCCAGAGAAAAGT
AGTTGTCAGTCATAGCACACATCGGACATTTGGAAAACAGCAGTGGCAACAACTGTATGACACACTTAATGCCTGGAAACAAAATCTGAA
CAAAGTGAAAAACAGCCTTTTGAGTCTTTCTGATACCTGAGTTTTTATGCTTATAATTTTTGTTCTTTGAAAAAAAAGCCCTAAATCATA
GTAAAACATTATAAACTAAAAAAATTTGCCTAGTCTGGACAGTTATTGTCTCAAATTTATACTAAAATCACAAACTCCAGAGGATATGAA
GTAATAAATTACAAGGGGTCACAATGTCTGTCATACAATACATAAATTCTGTTCTTTAAAAAAGGATATTGAAGAAGCAATGAGCACTTT
AAAGAAAGGATAATATACAGAGAGAAGACAGAAGTAGAGTAATACAATTTCTTCACATTAGAAAAACTTGGAAAAGCAAAGACAAACTGT
AGAGCTTTAAATACAACAGTCATTTTATTCTAGTAAAAACTATACCAGAATTTCAGTTACATAATTTCACTACTGAAAGCACTTATCTAC
ATTATTTTAATCTGTTGTTTTTTTCCAACGTCTCTTCTGCTTTTCTTTTCTTTGGCTGGTTGTCATTTTCTAAACTTAGTAAATTTTCAC
TTTTATTTAGTTGATTCGTAATGAGGCTCTGCCAGTCATCATCACCAGAAGTATTTTTAGTCGTCTTGATTGCCTGCAAATGGCTTTGTA
GTGGAGTTGATATCAGAGGCTTTGTTTTCACCTGGGAAAGATAAACTAATTTTACCTTCGAAATTATTATACAAAAGATTTTAAAGAGTC
TGTAAAGCCTCTGCAGTTATGAGTATGTGGTAAAACCACCATCTCTTGGCTGATTTCCACTACCTTAGTAGTTCTGGCACCAGAAAAGTA
TACAATGTGAATGTGTAGGCTTATGTAGTAGATCTTCAAAATCTCTAATATATAACTGAAGTAAAGTGTACAAAAACTGCCTTTTACTAC
TTCATGTTTCCTCCCATGCTTCAGAACACCATTGTTGAAGAAACAGGAAGGGCAGTGAGATATTTGGAAGTTGGCATGTTTTCAAGACAC
TGTATTGGGTAATTTTAAAAATAGTGTGTTAAATAACTTTTTCATTTTAAGGTTCTTTTCTGATGTTAAAATACTTACTGGAAATTTAGA
AAATAGAGTAAAGTAGAAAGAAACTAAAAATCATTAGTAATCCCTTATCCAGAGAGGCTTGTTGACATTTTGGTATTATTTGCTGCTAGC
GTTTTTTTCTATTTTTAGCCTATTTGATCATTCTATAGAATTTTATGTATTTTCCTCTGTGAGCAGTTTCTTAGGTCATTAAAAACAATT
GTCTATGGCTGCAAAATACTCCCTTTTATGGATGTTTGATATATCTCCTACTACTGAATGTTTGTTTCCAGTTTATCCCTACCAAAAATT
AATTCGAGTTAATTTCATGCAAAACAATCTTTGATGTTTTTGAGAGATTCCCAGATAAAATTTTCTCTTCAAAAGGAATACTGGGCCAGG
CACTGTGACTCATACCTGTAATCCCAGCACTTTGGGAAACTGAGGCGAGTGGATTGCATGAGCTCAGGAGTCGAAAACTAGCCTGAGCAA
CATGGCAAAACCCCATCTCTACCAAAAATTAGCTGGGCATGGTGGCATGCAACTGTAGTCCCAGCTCCTCGGAGGGCTGAGGTGCAAGGA
TCATTTGAGCCCAGGAGGTGAAGGTTGCAATGAGCCAAGATCATGCCATTGCACTCCAGCCTGGACAACAGAGTGAGACCCTCTCTCAAA
AATAAATAATAGATAAAACAAAAGGAATACTGAATTGTTTTCAAAATAACAATTATGGTGGGCTTTCTTTTAAGATAGGGTCTCACCCTG
TCACCTAGGCTGGAGTGCAGTGGCACAATCACAGCTCATTGCAGCCTTGACCTCCCTGGATTCAGGTGATCCTCCCACCTTCACCTCCTG
AGTACCTTGGACTACAGGCATGTGCCACCACACCCAGGTAATTTTTGTATTTTTTGCCATGTTGCCCAGGCTGGTCTCTCTTAACTCTTG
GGCTCAAGTGATCTGACCATCTCGGTCTCCCAAAGTTCTAGGATTACAGGAGTGAGCCATACTGTGTTGTGTTTTAGTTGAAAGGGATAT
ACACGTGTATTTTAGAAATATGAAACAGGATAAGAATTACATTAAAATCACCCAAGATCCCAACCACCATTAAAGAGTTTGTGTAAATCT
TCTGGTCTCTTTTCTGTATACACTTTTTAAATACTGGGGTCATATTTTTATTGGTTTATATGCTATGTTAAACATTTTTAGCATTTCCTC
CTGTTCTTAAGTCTGTTAAGAGGATAGCTCCATCATATTCTGTGTTCTGCAAATTATTTCTGGACATTTAAATTGTAAGAAAATGGTCAC
TGTTAACTAGGCTGCAGTGATTATCATTTGTTCATAAATCTTTGTGAAGATCTTTGGGTACTGCCTTACATTAAAATCTTTTTCAATTTG
ACCAGTAAAAGTGGCATGTTAGTAACATTGTCATTTTCAGTGTTAGATTATGTAGTACTAAGTTTATTTTATTTTATTTTTGAGACAGAG
TCTTGCACTGTCGCCCAGGCTGGAGTGCAGTGGCGCCATCTCAGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCGATTCTTCTGCCTC
AGCCTCCCGAGTAGCTGGGATTACAGGCACCCACCACGATGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTG
TCCAGGCTGGTCTCGAACGCCTGACCTCATGATCCACCTGCCTCGGCCTCCCAAAGTGTTGGGATTACAGGCATGAGCCACCCTGCCCGA
CCTAGTAATACTTTTTTTTTTTTTTTTTTTTAATGAACTTAAATGTTTAGAATGGTAAGTTCACGGCTCCCTAAGGAGTGTTCCTTTTGG
ATTGCTCTGTTTGGCTCCCTCCCTGAAATCCTATAGTCAGCCACTGGTCCCCTCAGAGAGTTTTACCTCTGATCTTTGGGGTGATTCTTT
GTTCATATTTATCTGATTGGCTTTGTTCTTCCAAAAGTGTCTGCACAGGACTGCTAAGAGAACCTAGGCAAGTCATTTAATTTTTCTGGG
CTTCAGTTTACTCATTAGCTTCTTTTAGTTCCCAGATGCTATTACTGGAAAGAATAACTAGTAATGGATAAAAACCTACATAAATATTTC
CTATTTTGCCATCAAAGTGCTGGGTTCATTTTGGTGTATTTGGCATCCAAGTACAAATTAACAGTTTCCCAAAATCCTGATTCTTTGACT
TTTTTATCTTGATGATGGAAAGGAAGGACACGTTTACTTGCTTTAGTTTCTTTCCCCTTAACTACCCACTTGCTGAGAGGGGTAGGAGCA
GGGATTGGCTTTAGAGAAACAAGATACAGTGTAGATTAGCTAATGTTTGCGCTTAACAAAACTTGTCCTGTTTAACTTACCTGAGGGTTC
TGCAGCCTACCGCAGTAATTTTAGTTCTAGCTGTTTTCAGATATATTGCCTTGTATCTTCGTTCTTTCGTCTCCTATCCTTTTTAGAAAT
TTATCACCTGTTTCTCTTTCAGCCTGACTTACAAAATCTAATTTTTGGCCTAAAAATTTCCCCTAGCTTGGTACTAGTCCTTTTATTTCT
GCCTGTGATTATATTTTAAAATTAAACTTAAATGAATCTAATTCATTGGATATATAAAAAAAAAAGTAAGTGGCTTGCTTTGCTTACTCT
GGTTTTCCATCCTCATTCCTGGATATAATCAAGATTGCAGTAGGCTAACAATCTAATGCTGAAAACAAGAATGAAAAACATACCATCTTT
TCAAGTTACTTTGGACCCATAGAGAGAAAGTGGATTGGTACTTAATACCTTCCCTGAATTTAACAGAATTGATGTGGACTGTACATAAAA

>8072_8072_2_ATP6AP2-EIF3M_ATP6AP2_chrX_40465889_ENST00000378438_EIF3M_chr11_32611132_ENST00000531120_length(amino acids)=384AA_BP=
MDESERVTSSRCGCRPCPAGPFRVAPQCCGRRGTMAVFVVLLALVAGVLGNEFSILKSPGSVVFRNGNWPIPGERIPDVAALSMGFSVKE
DLSWPGLAVGNLFHRPRATVMVMVKGVNKLALPPGSVISYPLENAVPFSLDSVANSIHSLFSEETPVVLQLAPSEERVYMVGKANSVFED
LSVTLRQLRNRLFQENSVLSSLPLNSLSRNNEVDLLFLSELQVLHDISSLLSRHKHLAKDHSPDLYSLELAGLDEIGKRYGEDSEQFRDA
SKILVDALQKFADDMYSLYGGNAVVELVTVKSFDTSLIRKTRTILEAKQAKNPASPYNLAYKYNFEYSVVFNMVLWIMIALALAVIITSY

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Fusion Gene PPI Analysis for ATP6AP2-EIF3M


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
TgeneEIF3MchrX:40465889chr11:32611132ENST00000531120011344_3740375.0HSV-1 and HSV-2


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 ATP6AP2-EIF3M


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 ATP6AP2-EIF3M


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneATP6AP2C1845543Mental Retardation, X-Linked, with Epilepsy3CTD_human;GENOMICS_ENGLAND;ORPHANET
HgeneATP6AP2C0016059Fibrosis1CTD_human
HgeneATP6AP2C0376634Craniofacial Abnormalities1CTD_human
HgeneATP6AP2C1623038Cirrhosis1CTD_human
HgeneATP6AP2C3806722PARKINSONISM WITH SPASTICITY, X-LINKED1CTD_human;GENOMICS_ENGLAND;ORPHANET