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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 26070

FusionGeneSummary for PAX3_MAML3

check button Fusion gene summary
Fusion gene informationFusion gene name: PAX3_MAML3
Fusion gene ID: 26070
HgeneTgene
Gene symbol

PAX3

MAML3

Gene ID

5077

55534

Gene namepaired box 3mastermind like transcriptional coactivator 3
SynonymsCDHS|HUP2|WS1|WS3CAGH3|ERDA3|GDN|MAM-2|MAM2|TNRC3|mam-3
Cytomap

2q36.1

4q31.1

Type of geneprotein-codingprotein-coding
Descriptionpaired box protein Pax-3paired box homeotic gene 3paired domain gene 3paired domain gene HuP2transcriptional factor PAX3mastermind-like protein 3CAG repeat containing (glia-derived nexin I alpha)expanded repeat domain, CAG/CTG 3polyglutamine richtrinucleotide repeat containing 3
Modification date2018052220180524
UniProtAcc

P23760

Q96JK9

Ensembl transtripts involved in fusion geneENST00000392069, ENST00000344493, 
ENST00000350526, ENST00000336840, 
ENST00000392070, ENST00000409551, 
ENST00000464706, ENST00000409828, 
ENST00000258387, 		ENST00000509479, 
ENST00000327122, ENST00000398940, 
Fusion gene scores* DoF score4 X 4 X 1=167 X 4 X 4=112
# samples 814
** MAII scorelog2(8/16*10)=2.32192809488736
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0		log2(14/112*10)=0.321928094887362
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: PAX3 [Title/Abstract] AND MAML3 [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotationOncogene involved fusion gene, in-frame and retained their domain.
Transcription factor involved fusion gene, inframe and retained DNA-binding domain.
* 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
HgenePAX3

GO:0045893

positive regulation of transcription, DNA-templated

11863357

HgenePAX3

GO:0045944

positive regulation of transcription by RNA polymerase II

11863357

TgeneMAML3

GO:0007219

Notch signaling pathway

12370315

TgeneMAML3

GO:0045944

positive regulation of transcription by RNA polymerase II

12370315


check button Fusion gene information from three resources
(ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018))
* 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.
Data typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChiTaRS3.1KF727277PAX3chr2

223096797

-MAML3chr4

140812124

-
ChiTaRS3.1KF727276PAX3chr2

223084859

-MAML3chr4

140812124

-
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

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-frameENST00000392069ENST00000509479PAX3chr2

223096797

-MAML3chr4

140812124

-
In-frameENST00000392069ENST00000327122PAX3chr2

223096797

-MAML3chr4

140812124

-
5CDS-intronENST00000392069ENST00000398940PAX3chr2

223096797

-MAML3chr4

140812124

-
In-frameENST00000344493ENST00000509479PAX3chr2

223096797

-MAML3chr4

140812124

-
In-frameENST00000344493ENST00000327122PAX3chr2

223096797

-MAML3chr4

140812124

-
5CDS-intronENST00000344493ENST00000398940PAX3chr2

223096797

-MAML3chr4

140812124

-
In-frameENST00000350526ENST00000509479PAX3chr2

223096797

-MAML3chr4

140812124

-
In-frameENST00000350526ENST00000327122PAX3chr2

223096797

-MAML3chr4

140812124

-
5CDS-intronENST00000350526ENST00000398940PAX3chr2

223096797

-MAML3chr4

140812124

-
In-frameENST00000336840ENST00000509479PAX3chr2

223096797

-MAML3chr4

140812124

-
In-frameENST00000336840ENST00000327122PAX3chr2

223096797

-MAML3chr4

140812124

-
5CDS-intronENST00000336840ENST00000398940PAX3chr2

223096797

-MAML3chr4

140812124

-
In-frameENST00000392070ENST00000509479PAX3chr2

223096797

-MAML3chr4

140812124

-
In-frameENST00000392070ENST00000327122PAX3chr2

223096797

-MAML3chr4

140812124

-
5CDS-intronENST00000392070ENST00000398940PAX3chr2

223096797

-MAML3chr4

140812124

-
In-frameENST00000409551ENST00000509479PAX3chr2

223096797

-MAML3chr4

140812124

-
In-frameENST00000409551ENST00000327122PAX3chr2

223096797

-MAML3chr4

140812124

-
5CDS-intronENST00000409551ENST00000398940PAX3chr2

223096797

-MAML3chr4

140812124

-
intron-3CDSENST00000464706ENST00000509479PAX3chr2

223096797

-MAML3chr4

140812124

-
intron-3CDSENST00000464706ENST00000327122PAX3chr2

223096797

-MAML3chr4

140812124

-
intron-intronENST00000464706ENST00000398940PAX3chr2

223096797

-MAML3chr4

140812124

-
intron-3CDSENST00000409828ENST00000509479PAX3chr2

223096797

-MAML3chr4

140812124

-
intron-3CDSENST00000409828ENST00000327122PAX3chr2

223096797

-MAML3chr4

140812124

-
intron-intronENST00000409828ENST00000398940PAX3chr2

223096797

-MAML3chr4

140812124

-
intron-3CDSENST00000258387ENST00000509479PAX3chr2

223096797

-MAML3chr4

140812124

-
intron-3CDSENST00000258387ENST00000327122PAX3chr2

223096797

-MAML3chr4

140812124

-
intron-intronENST00000258387ENST00000398940PAX3chr2

223096797

-MAML3chr4

140812124

-
In-frameENST00000392069ENST00000509479PAX3chr2

223084859

-MAML3chr4

140812124

-
In-frameENST00000392069ENST00000327122PAX3chr2

223084859

-MAML3chr4

140812124

-
5CDS-intronENST00000392069ENST00000398940PAX3chr2

223084859

-MAML3chr4

140812124

-
In-frameENST00000344493ENST00000509479PAX3chr2

223084859

-MAML3chr4

140812124

-
In-frameENST00000344493ENST00000327122PAX3chr2

223084859

-MAML3chr4

140812124

-
5CDS-intronENST00000344493ENST00000398940PAX3chr2

223084859

-MAML3chr4

140812124

-
In-frameENST00000350526ENST00000509479PAX3chr2

223084859

-MAML3chr4

140812124

-
In-frameENST00000350526ENST00000327122PAX3chr2

223084859

-MAML3chr4

140812124

-
5CDS-intronENST00000350526ENST00000398940PAX3chr2

223084859

-MAML3chr4

140812124

-
In-frameENST00000336840ENST00000509479PAX3chr2

223084859

-MAML3chr4

140812124

-
In-frameENST00000336840ENST00000327122PAX3chr2

223084859

-MAML3chr4

140812124

-
5CDS-intronENST00000336840ENST00000398940PAX3chr2

223084859

-MAML3chr4

140812124

-
In-frameENST00000392070ENST00000509479PAX3chr2

223084859

-MAML3chr4

140812124

-
In-frameENST00000392070ENST00000327122PAX3chr2

223084859

-MAML3chr4

140812124

-
5CDS-intronENST00000392070ENST00000398940PAX3chr2

223084859

-MAML3chr4

140812124

-
In-frameENST00000409551ENST00000509479PAX3chr2

223084859

-MAML3chr4

140812124

-
In-frameENST00000409551ENST00000327122PAX3chr2

223084859

-MAML3chr4

140812124

-
5CDS-intronENST00000409551ENST00000398940PAX3chr2

223084859

-MAML3chr4

140812124

-
5UTR-3CDSENST00000464706ENST00000509479PAX3chr2

223084859

-MAML3chr4

140812124

-
5UTR-3CDSENST00000464706ENST00000327122PAX3chr2

223084859

-MAML3chr4

140812124

-
5UTR-intronENST00000464706ENST00000398940PAX3chr2

223084859

-MAML3chr4

140812124

-
intron-3CDSENST00000409828ENST00000509479PAX3chr2

223084859

-MAML3chr4

140812124

-
intron-3CDSENST00000409828ENST00000327122PAX3chr2

223084859

-MAML3chr4

140812124

-
intron-intronENST00000409828ENST00000398940PAX3chr2

223084859

-MAML3chr4

140812124

-
intron-3CDSENST00000258387ENST00000509479PAX3chr2

223084859

-MAML3chr4

140812124

-
intron-3CDSENST00000258387ENST00000327122PAX3chr2

223084859

-MAML3chr4

140812124

-
intron-intronENST00000258387ENST00000398940PAX3chr2

223084859

-MAML3chr4

140812124

-

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FusionProtFeatures for PAX3_MAML3


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
PAX3

P23760

MAML3

Q96JK9

Acts as a transcriptional coactivator for NOTCHproteins. Has been shown to amplify NOTCH-induced transcription ofHES1. {ECO:0000269|PubMed:12370315, ECO:0000269|PubMed:12386158}.

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
HgenePAX3chr2:223084859chr4:140812124ENST00000336840-79219_278391408DNA bindingHomeobox
HgenePAX3chr2:223084859chr4:140812124ENST00000344493-78219_278391404DNA bindingHomeobox
HgenePAX3chr2:223084859chr4:140812124ENST00000350526-78219_278391480DNA bindingHomeobox
HgenePAX3chr2:223084859chr4:140812124ENST00000392069-710219_278391506DNA bindingHomeobox
HgenePAX3chr2:223084859chr4:140812124ENST00000392070-79219_278391485DNA bindingHomeobox
HgenePAX3chr2:223084859chr4:140812124ENST00000409551-79219_278390484DNA bindingHomeobox
HgenePAX3chr2:223084859chr4:140812124ENST00000336840-7934_161391408DomainPaired
HgenePAX3chr2:223084859chr4:140812124ENST00000344493-7834_161391404DomainPaired
HgenePAX3chr2:223084859chr4:140812124ENST00000350526-7834_161391480DomainPaired
HgenePAX3chr2:223084859chr4:140812124ENST00000392069-71034_161391506DomainPaired
HgenePAX3chr2:223084859chr4:140812124ENST00000392070-7934_161391485DomainPaired
HgenePAX3chr2:223084859chr4:140812124ENST00000409551-7934_161390484DomainPaired
HgenePAX3chr2:223096797chr4:140812124ENST00000336840-5934_161264408DomainPaired
HgenePAX3chr2:223096797chr4:140812124ENST00000344493-5834_161264404DomainPaired
HgenePAX3chr2:223096797chr4:140812124ENST00000350526-5834_161264480DomainPaired
HgenePAX3chr2:223096797chr4:140812124ENST00000392069-51034_161264506DomainPaired
HgenePAX3chr2:223096797chr4:140812124ENST00000392070-5934_161264485DomainPaired
HgenePAX3chr2:223096797chr4:140812124ENST00000409551-5934_161263484DomainPaired
TgeneMAML3chr2:223084859chr4:140812124ENST00000509479-05467_9681561139Compositional biasNote=Gln-rich
TgeneMAML3chr2:223084859chr4:140812124ENST00000509479-05548_5951561139Compositional biasNote=Asn-rich
TgeneMAML3chr2:223096797chr4:140812124ENST00000509479-05467_9681561139Compositional biasNote=Gln-rich
TgeneMAML3chr2:223096797chr4:140812124ENST00000509479-05548_5951561139Compositional biasNote=Asn-rich

- In-frame and not-retained protein feature among the 13 regional features.
>>>>>>>>>>>>>>
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgenePAX3chr2:223084859chr4:140812124ENST00000258387-15219_278-84207DNA bindingHomeobox
HgenePAX3chr2:223084859chr4:140812124ENST00000409828-14219_278-44216DNA bindingHomeobox
HgenePAX3chr2:223096797chr4:140812124ENST00000258387-15219_278-84207DNA bindingHomeobox
HgenePAX3chr2:223096797chr4:140812124ENST00000336840-59219_278264408DNA bindingHomeobox
HgenePAX3chr2:223096797chr4:140812124ENST00000344493-58219_278264404DNA bindingHomeobox
HgenePAX3chr2:223096797chr4:140812124ENST00000350526-58219_278264480DNA bindingHomeobox
HgenePAX3chr2:223096797chr4:140812124ENST00000392069-510219_278264506DNA bindingHomeobox
HgenePAX3chr2:223096797chr4:140812124ENST00000392070-59219_278264485DNA bindingHomeobox
HgenePAX3chr2:223096797chr4:140812124ENST00000409551-59219_278263484DNA bindingHomeobox
HgenePAX3chr2:223096797chr4:140812124ENST00000409828-14219_278-44216DNA bindingHomeobox
HgenePAX3chr2:223084859chr4:140812124ENST00000258387-1534_161-84207DomainPaired
HgenePAX3chr2:223084859chr4:140812124ENST00000409828-1434_161-44216DomainPaired
HgenePAX3chr2:223096797chr4:140812124ENST00000258387-1534_161-84207DomainPaired
HgenePAX3chr2:223096797chr4:140812124ENST00000409828-1434_161-44216DomainPaired


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FusionGeneSequence for PAX3_MAML3


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences.
(nt: nucleotides, aa: amino acids)

* Fusion amino acid sequences.

* Fusion transcript sequences (only coding sequence (CDS) region).

* Fusion transcript sequences (Full-length transcript).

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FusionGenePPI for PAX3_MAML3


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
PAX3IPO13, SOX10, DAXX, MSX1, MEOX1, MEOX2, TBP, PSMD4, RAD23B, HDAC10, TRIM28, HDAC1, POU3F2, TAF1, PCTP, SPIN1, SKAP1, FOXE1, FZR1, NELL2MAML3MAML1, NOTCH1, NFX1, SUPT5H, RAI1, ZBTB1, SCMH1, ZZZ3, RBPJ


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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RelatedDrugs for PAX3_MAML3


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for PAX3_MAML3


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgenePAX3C1847800Waardenburg Syndrome Type 114ORPHANET;UNIPROT
HgenePAX3C0079661Klein's Syndrome5ORPHANET;UNIPROT
HgenePAX3C0080178Spina Bifida4CTD_human
HgenePAX3C0027794Neural Tube Defects3CTD_human
HgenePAX3C1852510Craniofacial deafness hand syndrome2CTD_human;ORPHANET;UNIPROT
HgenePAX3C0011053Deafness1CTD_human;HPO
HgenePAX3C0018566Congenital Hand Deformities1CTD_human
HgenePAX3C0376634Craniofacial Abnormalities1CTD_human
HgenePAX3C0497552Congenital neurologic anomalies1CTD_human
HgenePAX3C1261473Sarcoma1CTD_human
HgenePAX3C1710096Sinonasal undifferentiated carcinoma1CTD_human
HgenePAX3C3266898Waardenburg Syndrome1CTD_human
TgeneMAML3C0010606Adenoid Cystic Carcinoma1CTD_human
TgeneMAML3C0018798Congenital Heart Defects1CTD_human
TgeneMAML3C1261473Sarcoma1CTD_human
TgeneMAML3C1710096Sinonasal undifferentiated carcinoma1CTD_human