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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:MAML3-PPA2 (FusionGDB2 ID:50777)

Fusion Gene Summary for MAML3-PPA2

check button Fusion gene summary
Fusion gene informationFusion gene name: MAML3-PPA2
Fusion gene ID: 50777
HgeneTgene
Gene symbol

MAML3

PPA2

Gene ID

55534

27068

Gene namemastermind like transcriptional coactivator 3inorganic pyrophosphatase 2
SynonymsCAGH3|ERDA3|GDN|MAM-2|MAM2|TNRC3|mam-3HSPC124|SCFAI|SCFI|SID6-306
Cytomap

4q31.1

4q24

Type of geneprotein-codingprotein-coding
Descriptionmastermind-like protein 3CAG repeat containing (glia-derived nexin I alpha)expanded repeat domain, CAG/CTG 3polyglutamine richtrinucleotide repeat containing 3inorganic pyrophosphatase 2, mitochondrialPPase 2pyrophosphatase (inorganic) 2pyrophosphatase SID6-306pyrophosphate phospho-hydrolase 2
Modification date2020031320200313
UniProtAcc

Q96JK9

.
Ensembl transtripts involved in fusion geneENST00000509479, ENST00000327122, 
ENST00000398940, 
ENST00000341695, 
ENST00000348706, ENST00000432483, 
ENST00000354147, ENST00000380004, 
ENST00000357415, ENST00000509426, 
ENST00000310267, 
Fusion gene scores* DoF score22 X 12 X 8=211217 X 10 X 8=1360
# samples 2318
** MAII scorelog2(23/2112*10)=-3.19890406841408
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(18/1360*10)=-2.91753783980803
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: MAML3 [Title/Abstract] AND PPA2 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointMAML3(141074014)-PPA2(106374799), # samples:1
Anticipated loss of major functional domain due to fusion event.
* DoF score (Degree of Frequency) = # partners X # break points X # cancer types
** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
HgeneMAML3

GO:0007219

Notch signaling pathway

12370315

HgeneMAML3

GO:0045944

positive regulation of transcription by RNA polymerase II

12370315


check buttonFusion gene breakpoints across MAML3 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check buttonFusion gene breakpoints across PPA2 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

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
ChimerDB4STADTCGA-D7-8576-01AMAML3chr4

141074014

-PPA2chr4

106374799

-


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Fusion Gene ORF analysis for MAML3-PPA2

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-frameENST00000509479ENST00000341695MAML3chr4

141074014

-PPA2chr4

106374799

-
In-frameENST00000509479ENST00000348706MAML3chr4

141074014

-PPA2chr4

106374799

-
5CDS-intronENST00000509479ENST00000432483MAML3chr4

141074014

-PPA2chr4

106374799

-
5CDS-intronENST00000509479ENST00000354147MAML3chr4

141074014

-PPA2chr4

106374799

-
5CDS-intronENST00000509479ENST00000380004MAML3chr4

141074014

-PPA2chr4

106374799

-
5CDS-intronENST00000509479ENST00000357415MAML3chr4

141074014

-PPA2chr4

106374799

-
5CDS-5UTRENST00000509479ENST00000509426MAML3chr4

141074014

-PPA2chr4

106374799

-
5CDS-5UTRENST00000509479ENST00000310267MAML3chr4

141074014

-PPA2chr4

106374799

-
intron-3CDSENST00000327122ENST00000341695MAML3chr4

141074014

-PPA2chr4

106374799

-
intron-3CDSENST00000327122ENST00000348706MAML3chr4

141074014

-PPA2chr4

106374799

-
intron-intronENST00000327122ENST00000432483MAML3chr4

141074014

-PPA2chr4

106374799

-
intron-intronENST00000327122ENST00000354147MAML3chr4

141074014

-PPA2chr4

106374799

-
intron-intronENST00000327122ENST00000380004MAML3chr4

141074014

-PPA2chr4

106374799

-
intron-intronENST00000327122ENST00000357415MAML3chr4

141074014

-PPA2chr4

106374799

-
intron-5UTRENST00000327122ENST00000509426MAML3chr4

141074014

-PPA2chr4

106374799

-
intron-5UTRENST00000327122ENST00000310267MAML3chr4

141074014

-PPA2chr4

106374799

-
intron-3CDSENST00000398940ENST00000341695MAML3chr4

141074014

-PPA2chr4

106374799

-
intron-3CDSENST00000398940ENST00000348706MAML3chr4

141074014

-PPA2chr4

106374799

-
intron-intronENST00000398940ENST00000432483MAML3chr4

141074014

-PPA2chr4

106374799

-
intron-intronENST00000398940ENST00000354147MAML3chr4

141074014

-PPA2chr4

106374799

-
intron-intronENST00000398940ENST00000380004MAML3chr4

141074014

-PPA2chr4

106374799

-
intron-intronENST00000398940ENST00000357415MAML3chr4

141074014

-PPA2chr4

106374799

-
intron-5UTRENST00000398940ENST00000509426MAML3chr4

141074014

-PPA2chr4

106374799

-
intron-5UTRENST00000398940ENST00000310267MAML3chr4

141074014

-PPA2chr4

106374799

-

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)
ENST00000509479MAML3chr4141074014-ENST00000341695PPA2chr4106374799-275613258572107416
ENST00000509479MAML3chr4141074014-ENST00000348706PPA2chr4106374799-250313258572020387

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
ENST00000509479ENST00000341695MAML3chr4141074014-PPA2chr4106374799-0.0017437830.99825627
ENST00000509479ENST00000348706MAML3chr4141074014-PPA2chr4106374799-0.0028232630.99717677

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Fusion Genomic Features for MAML3-PPA2


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.

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page.

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Fusion Protein Features for MAML3-PPA2


check button Go to

FGviewer for the breakpoints of chr4:141074014-chr4:106374799

.
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
MAML3

Q96JK9

.
FUNCTION: Acts as a transcriptional coactivator for NOTCH proteins. Has been shown to amplify NOTCH-induced transcription of HES1. {ECO:0000269|PubMed:12370315, ECO:0000269|PubMed:12386158}.FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.

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
HgeneMAML3chr4:141074014chr4:106374799ENST00000509479-15467_968156.01139.0Compositional biasNote=Gln-rich
HgeneMAML3chr4:141074014chr4:106374799ENST00000509479-15548_595156.01139.0Compositional biasNote=Asn-rich


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Fusion Gene Sequence for MAML3-PPA2


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.
>In-frame_ENST00000509479_ENST00000341695_TCGA-D7-8576-01A_MAML3_chr4_141074014_-_PPA2_chr4_106374799_length(transcript)=2756nt_BP=1325nt
ACTCCGCTGGCATGGAGGAGGAGGAGGAGGTGGAGGAGCGAGAGGAGGAGGAGGAGGCGGCGGCGGCGGCGGCGGCGAGCAGTTGATCAT
TGTGATGGTGGCAGGAGCAGCGGCGGCAGCGGCAGCCCAGCCGAGCGTTAGGTGCTGCTCTCTGCGCGGCGTTTTGCAAAGGACTTCACC
GATCTACTTTTGCAGTCGCCTCGGACTGTCCATGTGTTTACTTCCCCCAGCCCGAGGATTCGATATCTAGGTTCCTGTGAAATGCAACTG
AGCAGCCAAAGTACTTTGAGAACACGGGGCGGCATAAACACCAAAACTTTTTTGTGGAAGGAAAATGCAATAAGCAAGCTTGCCGTTTTC
CGATGCGGTGTGGAGTGAGTGTGTGTCGCGCGTGTCCGCACTGGAGGCATATGCTTGTGTGTGTACATGGGGTGTGTTTTTCGGTATGTA
GGGAGAAAATGCTTGCCAACCACCGGAAATCTCCTGGAATTTATTAGAAAATAATGGATTATAAAAAGAAGGCAAGCAAGGAGCGGATCT
CCCCTTGAGTTGCAACCCGATTTGCTGCTGGCTCAGTTTGTTGTGATTCTTTTTGTTGATAGGTGTCTGATGGTATTCCGATAACGTTCC
CCCCTTTTCTTCCCCTTGAGCTTTTACAGTTTAAAAAAAGGAAACAAAAACCACCCCAAAATCTCCCCCCCCGTTTTTTTCGCCCCGTCG
GGATCGCCGTTTCCATCCATGTGCTTGCGTCTCCCCCGCGTTCCACTTAAACTATTTTAATCCTTGGACCCAAGGAGGAGGCTGATAGGG
GGGTGGATAAAAAAAGTTCTTCCAAAATAGTGTGCCCGGGGAGCAGGATGGGGGATTTCGCAGCCCCCGCTGCTGCCGCGAATGGCAGTA
GTATTTGCATCAACAGTAGCCTGAACAGCAGCCTCGGCGGGGCCGGGATCGGTGTGAATAATACTCCCAATAGTACTCCCGCTGCTCCGA
GTAGCAATCACCCGGCAGCCGGTGGATGCGGCGGCTCCGGGGGCCCCGGCGGCGGTTCGGCGGCCGTTCCCAAGCACAGCACCGTGGTGG
AGCGGCTCCGCCAGCGCATCGAGGGCTGCCGTCGGCACCACGTCAACTGCGAGAACAGGTACCAGCAGGCTCAGGTGGAGCAGCTGGAGC
TGGAGCGCCGGGACACCGTGAGCCTCTACCAGCGGACCCTGGAGCAGAGGGCCAAGAAATCGGGCGCCGGCACCGGCAAACAGCAGCACC
CGAGCAAACCCCAGCAAGATGCGGAGGCTGCCTCGGCGGAGCAGAGGAACCACACGCTGATCATGGAAAATGGCATTCCTATGAAGAAAG
CACGAAATGATGAATATGAGAATCTGTTTAATATGATTGTAGAAATACCTCGGTGGACAAATGCTAAAATGGAGATTGCCACCAAGGAGC
CAATGAATCCCATTAAACAATATGTAAAGGATGGAAAGCTACGCTATGTGGCGAATATCTTCCCTTACAAGGGTTATATATGGAATTATG
GTACCCTCCCTCAGACTTGGGAAGATCCCCATGAAAAAGATAAGAGCACGAACTGCTTTGGAGATAATGATCCTATTGATGTTTGCGAAA
TAGGCTCAAAGATTCTTTCTTGTGGAGAAGTTATTCATGTGAAGATCCTTGGAATTTTGGCTCTTATTGATGAAGGTGAAACAGATTGGA
AATTAATTGCTATCAATGCGAATGATCCTGAAGCCTCAAAGTTTCATGATATTGATGATGTTAAGAAGTTCAAACCGGGTTACCTGGAAG
CTACTCTTAATTGGTTTAGATTATATAAGGTACCAGATGGAAAACCAGAAAACCAGTTTGCTTTTAATGGAGAATTCAAAAACAAGGCTT
TTGCTCTTGAAGTTATTAAATCCACTCATCAATGTTGGAAAGCATTGCTTATGAAGAAGTGTAATGGAGGAGCTATAAATTGCACAAACG
TGCAGATATCTGATAGCCCTTTCCGTTGCACTCAAGAGGAAGCAAGATCATTAGTTGAATCGGTATCATCTTCACCAAATAAAGAAAGTA
ATGAAGAAGAGCAAGTGTGGCACTTCCTTGGCAAGTGATTGAAACATCTGAAATTCTGCTGTCAAGATTCCCATCTCTAAGGACTCCAAG
TGCTAGAGACAAGGGGGTCTATGAGCATTTACTGACTTCCTGTTAAAACTTCATTTTTTCAAACTTTTTGAGCTATGCAATATATAAATA
AACAGTAAGAATTTTAAATTACTCTCCTTTGGACATTTATTGATATAAAAAGAAGATTTTGGCCAGGCACGGTGGCTCATGCCTGTAATT
TCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACAAGGTCAGGAGTTCAAGACCAGCCTGGCCAGTATGTTGAAACCCCATCTCTATTAA
AAATACAAAAATTAGCCAGGCGTGGTGGTGCATGCCTGTAGACCCAGCTACTCAGGAGGCTGAGGCAGAAGAACTGCTTGAGCCCAGGAG
GCAGAGGTTGCAGTGAGCAGAGATTGTGCCACTGCACTCCAGCCTAGGCGACAGAGAGAGACTCCGTCTCAAAAAAAAAAAAAAGATTTT
GTTTCATTTCATAGCACAAATTTAGAGGCATTGAGTTGACCATTTCTAGTTTCTATACCTGAAGGAACCCATTGATTTTACCAGTTTTTA

>In-frame_ENST00000509479_ENST00000341695_TCGA-D7-8576-01A_MAML3_chr4_141074014_-_PPA2_chr4_106374799_length(amino acids)=416AA_start in transcript=857_stop in transcript=2107
MGDFAAPAAAANGSSICINSSLNSSLGGAGIGVNNTPNSTPAAPSSNHPAAGGCGGSGGPGGGSAAVPKHSTVVERLRQRIEGCRRHHVN
CENRYQQAQVEQLELERRDTVSLYQRTLEQRAKKSGAGTGKQQHPSKPQQDAEAASAEQRNHTLIMENGIPMKKARNDEYENLFNMIVEI
PRWTNAKMEIATKEPMNPIKQYVKDGKLRYVANIFPYKGYIWNYGTLPQTWEDPHEKDKSTNCFGDNDPIDVCEIGSKILSCGEVIHVKI
LGILALIDEGETDWKLIAINANDPEASKFHDIDDVKKFKPGYLEATLNWFRLYKVPDGKPENQFAFNGEFKNKAFALEVIKSTHQCWKAL

--------------------------------------------------------------
>In-frame_ENST00000509479_ENST00000348706_TCGA-D7-8576-01A_MAML3_chr4_141074014_-_PPA2_chr4_106374799_length(transcript)=2503nt_BP=1325nt
ACTCCGCTGGCATGGAGGAGGAGGAGGAGGTGGAGGAGCGAGAGGAGGAGGAGGAGGCGGCGGCGGCGGCGGCGGCGAGCAGTTGATCAT
TGTGATGGTGGCAGGAGCAGCGGCGGCAGCGGCAGCCCAGCCGAGCGTTAGGTGCTGCTCTCTGCGCGGCGTTTTGCAAAGGACTTCACC
GATCTACTTTTGCAGTCGCCTCGGACTGTCCATGTGTTTACTTCCCCCAGCCCGAGGATTCGATATCTAGGTTCCTGTGAAATGCAACTG
AGCAGCCAAAGTACTTTGAGAACACGGGGCGGCATAAACACCAAAACTTTTTTGTGGAAGGAAAATGCAATAAGCAAGCTTGCCGTTTTC
CGATGCGGTGTGGAGTGAGTGTGTGTCGCGCGTGTCCGCACTGGAGGCATATGCTTGTGTGTGTACATGGGGTGTGTTTTTCGGTATGTA
GGGAGAAAATGCTTGCCAACCACCGGAAATCTCCTGGAATTTATTAGAAAATAATGGATTATAAAAAGAAGGCAAGCAAGGAGCGGATCT
CCCCTTGAGTTGCAACCCGATTTGCTGCTGGCTCAGTTTGTTGTGATTCTTTTTGTTGATAGGTGTCTGATGGTATTCCGATAACGTTCC
CCCCTTTTCTTCCCCTTGAGCTTTTACAGTTTAAAAAAAGGAAACAAAAACCACCCCAAAATCTCCCCCCCCGTTTTTTTCGCCCCGTCG
GGATCGCCGTTTCCATCCATGTGCTTGCGTCTCCCCCGCGTTCCACTTAAACTATTTTAATCCTTGGACCCAAGGAGGAGGCTGATAGGG
GGGTGGATAAAAAAAGTTCTTCCAAAATAGTGTGCCCGGGGAGCAGGATGGGGGATTTCGCAGCCCCCGCTGCTGCCGCGAATGGCAGTA
GTATTTGCATCAACAGTAGCCTGAACAGCAGCCTCGGCGGGGCCGGGATCGGTGTGAATAATACTCCCAATAGTACTCCCGCTGCTCCGA
GTAGCAATCACCCGGCAGCCGGTGGATGCGGCGGCTCCGGGGGCCCCGGCGGCGGTTCGGCGGCCGTTCCCAAGCACAGCACCGTGGTGG
AGCGGCTCCGCCAGCGCATCGAGGGCTGCCGTCGGCACCACGTCAACTGCGAGAACAGGTACCAGCAGGCTCAGGTGGAGCAGCTGGAGC
TGGAGCGCCGGGACACCGTGAGCCTCTACCAGCGGACCCTGGAGCAGAGGGCCAAGAAATCGGGCGCCGGCACCGGCAAACAGCAGCACC
CGAGCAAACCCCAGCAAGATGCGGAGGCTGCCTCGGCGGAGCAGAGGAACCACACGCTGATCATGGAAAATGGCATTCCTATGAAGAAAG
CACGAAATGATGAATATGAGAATCTGTTTAATATGATTGTAGAAATACCTCGGTGGACAAATGCTAAAATGGAGATTGCCACCAAGGAGC
CAATGAATCCCATTAAACAATATGTAAAGGATGGAAAGCTACGCTATGTGGCGAATATCTTCCCTTACAAGGGTTATATATGGAATTATG
GTACCCTCCCTCAGATTCTTTCTTGTGGAGAAGTTATTCATGTGAAGATCCTTGGAATTTTGGCTCTTATTGATGAAGGTGAAACAGATT
GGAAATTAATTGCTATCAATGCGAATGATCCTGAAGCCTCAAAGTTTCATGATATTGATGATGTTAAGAAGTTCAAACCGGGTTACCTGG
AAGCTACTCTTAATTGGTTTAGATTATATAAGGTACCAGATGGAAAACCAGAAAACCAGTTTGCTTTTAATGGAGAATTCAAAAACAAGG
CTTTTGCTCTTGAAGTTATTAAATCCACTCATCAATGTTGGAAAGCATTGCTTATGAAGAAGTGTAATGGAGGAGCTATAAATTGCACAA
ACGTGCAGATATCTGATAGCCCTTTCCGTTGCACTCAAGAGGAAGCAAGATCATTAGTTGAATCGGTATCATCTTCACCAAATAAAGAAA
GTAATGAAGAAGAGCAAGTGTGGCACTTCCTTGGCAAGTGATTGAAACATCTGAAATTCTGCTGTCAAGATTCCCATCTCTAAGGACTCC
AAGTGCTAGAGACAAGGGGGTCTATGAGCATTTACTGACTTCCTGTTAAAACTTCATTTTTTCAAACTTTTTGAGCTATGCAATATATAA
ATAAACAGTAAGAATTTTAAATTACTCTCCTTTGGACATTTATTGATATAAAAAGAAGATTTTGGCCAGGCACGGTGGCTCATGCCTGTA
ATTTCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACAAGGTCAGGAGTTCAAGACCAGCCTGGCCAGTATGTTGAAACCCCATCTCTAT
TAAAAATACAAAAATTAGCCAGGCGTGGTGGTGCATGCCTGTAGACCCAGCTACTCAGGAGGCTGAGGCAGAAGAACTGCTTGAGCCCAG

>In-frame_ENST00000509479_ENST00000348706_TCGA-D7-8576-01A_MAML3_chr4_141074014_-_PPA2_chr4_106374799_length(amino acids)=387AA_start in transcript=857_stop in transcript=2020
MGDFAAPAAAANGSSICINSSLNSSLGGAGIGVNNTPNSTPAAPSSNHPAAGGCGGSGGPGGGSAAVPKHSTVVERLRQRIEGCRRHHVN
CENRYQQAQVEQLELERRDTVSLYQRTLEQRAKKSGAGTGKQQHPSKPQQDAEAASAEQRNHTLIMENGIPMKKARNDEYENLFNMIVEI
PRWTNAKMEIATKEPMNPIKQYVKDGKLRYVANIFPYKGYIWNYGTLPQILSCGEVIHVKILGILALIDEGETDWKLIAINANDPEASKF
HDIDDVKKFKPGYLEATLNWFRLYKVPDGKPENQFAFNGEFKNKAFALEVIKSTHQCWKALLMKKCNGGAINCTNVQISDSPFRCTQEEA

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

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Fusion Gene PPI Analysis for MAML3-PPA2


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 MAML3-PPA2


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 MAML3-PPA2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneMAML3C0010606Adenoid Cystic Carcinoma1CTD_human
HgeneMAML3C0018798Congenital Heart Defects1CTD_human
HgeneMAML3C0205944Sarcoma, Epithelioid1CTD_human
HgeneMAML3C0205945Sarcoma, Spindle Cell1CTD_human
HgeneMAML3C1261473Sarcoma1CTD_human
HgeneMAML3C1710096Sinonasal undifferentiated carcinoma1CTD_human
TgenePPA2C4310663SUDDEN CARDIAC FAILURE, ALCOHOL-INDUCED2CTD_human;GENOMICS_ENGLAND;UNIPROT
TgenePPA2C4310664SUDDEN CARDIAC FAILURE, INFANTILE2CTD_human;GENOMICS_ENGLAND;UNIPROT