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Center for Computational Systems Medicine level1
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Fusion Gene Summary

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Fusion Gene Sample Information

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Fusion ORF Analysis

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Fusion Amino Acid Sequences

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Fusion Protein Functional Features

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Fusion Protein-Protein Interaction

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Related drugs with this fusion protein

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Related disease with this fusion protein

Fusion Protein:SMAD3-AAGAB

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: SMAD3-AAGAB
FusionPDB ID: 83788
FusionGDB2.0 ID: 83788
HgeneTgene
Gene symbol

SMAD3

AAGAB

Gene ID

4088

79719

Gene nameSMAD family member 3alpha and gamma adaptin binding protein
SynonymsHSPC193|HsT17436|JV15-2|LDS1C|LDS3|MADH3KPPP1|PPKP1|PPKP1A|p34
Cytomap

15q22.33

15q23

Type of geneprotein-codingprotein-coding
Descriptionmothers against decapentaplegic homolog 3MAD homolog 3MAD, mothers against decapentaplegic homolog 3SMA- and MAD-related protein 3SMAD, mothers against DPP homolog 3hMAD-3hSMAD3mad homolog JV15-2mad protein homologmad3mothers against DPP homologalpha- and gamma-adaptin-binding protein p34
Modification date2020032920200327
UniProtAcc.

Q6PD74

Ensembl transtripts involved in fusion geneENST idsENST00000327367, ENST00000439724, 
ENST00000537194, ENST00000540846, 
ENST00000559092, 		ENST00000538028, 
ENST00000542650, ENST00000561452, 
ENST00000261880, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score17 X 13 X 12=26526 X 10 X 4=240
# samples 309
** MAII scorelog2(30/2652*10)=-3.14404636961671
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(9/240*10)=-1.41503749927884
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)

PubMed: SMAD3 [Title/Abstract] AND AAGAB [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)SMAD3(67358698)-AAGAB(67495236), # samples:4
AAGAB(67500900)-SMAD3(67457233), # samples:3
Anticipated loss of major functional domain due to fusion event.SMAD3-AAGAB 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.
SMAD3-AAGAB 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.
SMAD3-AAGAB 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.
SMAD3-AAGAB 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.
SMAD3-AAGAB seems lost the major protein functional domain in Hgene partner, which is a CGC due to the frame-shifted ORF.
SMAD3-AAGAB seems lost the major protein functional domain in Hgene partner, which is a transcription factor due to the frame-shifted ORF.
AAGAB-SMAD3 seems lost the major protein functional domain in Tgene partner, which is a CGC due to the frame-shifted ORF.
AAGAB-SMAD3 seems lost the major protein functional domain in Tgene partner, which is a transcription factor 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
HgeneSMAD3

GO:0000122

negative regulation of transcription by RNA polymerase II

8774881

HgeneSMAD3

GO:0006357

regulation of transcription by RNA polymerase II

21947082

HgeneSMAD3

GO:0007179

transforming growth factor beta receptor signaling pathway

9732876|18548003|21947082

HgeneSMAD3

GO:0007183

SMAD protein complex assembly

9111321|10823886

HgeneSMAD3

GO:0010628

positive regulation of gene expression

21307346

HgeneSMAD3

GO:0010718

positive regulation of epithelial to mesenchymal transition

21307346

HgeneSMAD3

GO:0030308

negative regulation of cell growth

8774881

HgeneSMAD3

GO:0045429

positive regulation of nitric oxide biosynthetic process

27038547

HgeneSMAD3

GO:0045599

negative regulation of fat cell differentiation

19816956

HgeneSMAD3

GO:0045893

positive regulation of transcription, DNA-templated

9111321|9311995|9732876

HgeneSMAD3

GO:0045944

positive regulation of transcription by RNA polymerase II

8774881|18832382

HgeneSMAD3

GO:0051481

negative regulation of cytosolic calcium ion concentration

27038547

HgeneSMAD3

GO:0071560

cellular response to transforming growth factor beta stimulus

12902338

HgeneSMAD3

GO:1901203

positive regulation of extracellular matrix assembly

21307346


check buttonFusion gene breakpoints across SMAD3 (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 AAGAB (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure


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Fusion Gene Sample Information

check buttonFusion gene information from FusionGDB2.0.
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
ChimerDB4BLCATCGA-GU-A42Q-01ASMAD3chr15

67391361

+AAGABchr15

67529157

-
ChimerDB4BLCATCGA-GU-A42Q-01ASMAD3chr15

67391595

+AAGABchr15

67529157

-
ChimerDB4BLCATCGA-GU-A42Q-01ASMAD3chr15

67418322

+AAGABchr15

67529158

-
ChimerDB4BLCATCGA-GU-A42Q-01ASMAD3chr15

67430437

+AAGABchr15

67529157

-
ChimerDB4BLCATCGA-GU-A42Q-01ASMAD3chr15

67430438

-AAGABchr15

67529158

-
ChimerDB4BLCATCGA-GU-A42Q-01ASMAD3chr15

67430438

+AAGABchr15

67529158

-
ChimerDB4BLCATCGA-GU-A42QSMAD3chr15

67430438

+AAGABchr15

67529158

-
ChimerDB4SARCTCGA-K1-A42X-01ASMAD3chr15

67358698

-AAGABchr15

67495236

-
ChimerDB4SARCTCGA-K1-A42X-01ASMAD3chr15

67358698

+AAGABchr15

67495236

-
ChimerDB4SARCTCGA-K1-A42X-01ASMAD3chr15

67358698

+AAGABchr15

67496486

-
ChimerDB4SARCTCGA-K1-A42X-02ASMAD3chr15

67358698

-AAGABchr15

67495236

-
ChimerDB4SARCTCGA-K1-A42X-02ASMAD3chr15

67358698

+AAGABchr15

67495236

-
ChimerDB4SARCTCGA-K1-A42X-02ASMAD3chr15

67358698

+AAGABchr15

67496486

-
ChiTaRS5.0N/ACX866999SMAD3chr15

67462942

+AAGABchr15

67501883

-


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Fusion ORF Analysis


check buttonFusion information from ORFfinder translation from full-length transcript sequence from FusionPDB.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)		BP loci
(transcript)		Predicted start
(transcript)		Predicted stop
(transcript)		Seq length
(amino acids)
ENST00000327367SMAD3chr1567358698+ENST00000261880AAGABchr1567495236-23825165150172
ENST00000559092SMAD3chr1567391361+ENST00000261880AAGABchr1567529157-31064432561317353

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
ENST00000327367ENST00000261880SMAD3chr1567358698+AAGABchr1567495236-0.19974920.80025077
ENST00000559092ENST00000261880SMAD3chr1567391361+AAGABchr1567529157-0.0008617650.99913824

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Fusion Amino Acid Sequences


check button For individual full-length fusion transcript sequence from FusionPDB, we ran ORFfinder and chose the longest ORF among the all predicted ones.
>FusionGDB ID_FusionGDB isoform ID_FGname_Hgene_Hchr_Hbp_Henst_Tgene_Tchr_Tbp_Tenst_length(fusion AA) seq_BP

>83788_83788_1_SMAD3-AAGAB_SMAD3_chr15_67358698_ENST00000327367_AAGAB_chr15_67495236_ENST00000261880_length(amino acids)=172AA_BP=
MGMVMHLVLTFCVVMAFSSSSSCPVFLSFLTRLLTAFSHHFSSCPFCSPFFQPSRRFTIGGVKGRMDDMAGEGARAARSAPGGAGLDGTP

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

>83788_83788_2_SMAD3-AAGAB_SMAD3_chr15_67391361_ENST00000559092_AAGAB_chr15_67529157_ENST00000261880_length(amino acids)=353AA_BP=61
MGDLGTVGGHTWMGGWTPFLRGPVWRRVRQPMEMGQCSEMLHKCGLLPQTVDRAYVLSEDQLYILGTEDLIVEVTSNDAVRFYPWTIDNK
YYSADINLCVVPNKFLVTAEIAESVQAFVVYFDSTQKSGLDSVSSWLPLAKAWLPEVMILVCDRVSEDGINRQKAQEWCIKHGFELVELS
PEELPEEDDDFPESTGVKRIVQALNANVWSNVVMKNDRNQGFSLLNSLTGTNHSIGSADPCHPEQPHLPAADSTESLSDHRGGASNTTDA

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

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Fusion Protein Functional Features


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/chr15:67358698/chr15:67495236)
- 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
.AAGAB

Q6PD74

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.FUNCTION: May be involved in endocytic recycling of growth factor receptors such as EGFR. {ECO:0000269|PubMed:23064416}.

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.
- Retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneSMAD3chr15:67462942chr15:67501883ENST00000327367+5910_136219.33333333333334426.0DomainMH1
HgeneSMAD3chr15:67462942chr15:67501883ENST00000439724+5910_136175.33333333333334382.0DomainMH1

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneSMAD3chr15:67358698chr15:67495236ENST00000327367+1910_13668.66666666666667426.0DomainMH1
HgeneSMAD3chr15:67358698chr15:67495236ENST00000327367+19232_42568.66666666666667426.0DomainMH2
HgeneSMAD3chr15:67358698chr15:67495236ENST00000439724+1910_1360382.0DomainMH1
HgeneSMAD3chr15:67358698chr15:67495236ENST00000439724+19232_4250382.0DomainMH2
HgeneSMAD3chr15:67358698chr15:67495236ENST00000537194+1710_1360231.0DomainMH1
HgeneSMAD3chr15:67358698chr15:67495236ENST00000537194+17232_4250231.0DomainMH2
HgeneSMAD3chr15:67358698chr15:67495236ENST00000540846+1910_1360321.0DomainMH1
HgeneSMAD3chr15:67358698chr15:67495236ENST00000540846+19232_4250321.0DomainMH2
HgeneSMAD3chr15:67391361chr15:67529157ENST00000327367+1910_1360426.0DomainMH1
HgeneSMAD3chr15:67391361chr15:67529157ENST00000327367+19232_4250426.0DomainMH2
HgeneSMAD3chr15:67391361chr15:67529157ENST00000439724+1910_1360382.0DomainMH1
HgeneSMAD3chr15:67391361chr15:67529157ENST00000439724+19232_4250382.0DomainMH2
HgeneSMAD3chr15:67391361chr15:67529157ENST00000537194+1710_1360231.0DomainMH1
HgeneSMAD3chr15:67391361chr15:67529157ENST00000537194+17232_4250231.0DomainMH2
HgeneSMAD3chr15:67391361chr15:67529157ENST00000540846+1910_1360321.0DomainMH1
HgeneSMAD3chr15:67391361chr15:67529157ENST00000540846+19232_4250321.0DomainMH2
HgeneSMAD3chr15:67462942chr15:67501883ENST00000327367+59232_425219.33333333333334426.0DomainMH2
HgeneSMAD3chr15:67462942chr15:67501883ENST00000439724+59232_425175.33333333333334382.0DomainMH2
HgeneSMAD3chr15:67462942chr15:67501883ENST00000537194+3710_13624.333333333333332231.0DomainMH1
HgeneSMAD3chr15:67462942chr15:67501883ENST00000537194+37232_42524.333333333333332231.0DomainMH2
HgeneSMAD3chr15:67462942chr15:67501883ENST00000540846+5910_136114.33333333333333321.0DomainMH1
HgeneSMAD3chr15:67462942chr15:67501883ENST00000540846+59232_425114.33333333333333321.0DomainMH2
HgeneSMAD3chr15:67358698chr15:67495236ENST00000327367+19137_23168.66666666666667426.0RegionNote=Linker
HgeneSMAD3chr15:67358698chr15:67495236ENST00000439724+19137_2310382.0RegionNote=Linker
HgeneSMAD3chr15:67358698chr15:67495236ENST00000537194+17137_2310231.0RegionNote=Linker
HgeneSMAD3chr15:67358698chr15:67495236ENST00000540846+19137_2310321.0RegionNote=Linker
HgeneSMAD3chr15:67391361chr15:67529157ENST00000327367+19137_2310426.0RegionNote=Linker
HgeneSMAD3chr15:67391361chr15:67529157ENST00000439724+19137_2310382.0RegionNote=Linker
HgeneSMAD3chr15:67391361chr15:67529157ENST00000537194+17137_2310231.0RegionNote=Linker
HgeneSMAD3chr15:67391361chr15:67529157ENST00000540846+19137_2310321.0RegionNote=Linker
HgeneSMAD3chr15:67462942chr15:67501883ENST00000327367+59137_231219.33333333333334426.0RegionNote=Linker
HgeneSMAD3chr15:67462942chr15:67501883ENST00000439724+59137_231175.33333333333334382.0RegionNote=Linker
HgeneSMAD3chr15:67462942chr15:67501883ENST00000537194+37137_23124.333333333333332231.0RegionNote=Linker
HgeneSMAD3chr15:67462942chr15:67501883ENST00000540846+59137_231114.33333333333333321.0RegionNote=Linker


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Fusion Protein-Protein Interaction


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 from validated records (BIOGRID-3.4.160)
GenePPI interactors


check button Protein-protein interactors based on sequence similarity (STRING)
GeneSTRING network
SMAD3
AAGAB


check button - Retained interactions in fusion protein (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost interactions due to fusion (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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Related Drugs to SMAD3-AAGAB


check button Drugs used for this fusion-positive patient.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDrugSourcePMID

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Related Diseases to SMAD3-AAGAB


check button Diseases that have this fusion gene.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDiseaseSourcePMID

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