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Center for Computational Systems Medicine level2
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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 Structure

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pLDDT scores

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Ramachandran Plot of Fusion Protein Structure

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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:SAE1-BAX

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: SAE1-BAX
FusionPDB ID: 79005
FusionGDB2.0 ID: 79005
HgeneTgene
Gene symbol

SAE1

BAX

Gene ID

10055

581

Gene nameSUMO1 activating enzyme subunit 1BCL2 associated X, apoptosis regulator
SynonymsAOS1|HSPC140|SUA1|UBLE1ABCL2L4
Cytomap

19q13.32

19q13.33

Type of geneprotein-codingprotein-coding
DescriptionSUMO-activating enzyme subunit 1SUMO-1 activating enzyme E1 N subunitSUMO-1 activating enzyme subunit 1activator of SUMO1sentrin/SUMO-activating protein AOS1ubiquitin-like 1-activating enzyme E1Aubiquitin-like protein SUMO-1 activating enzymeapoptosis regulator BAXBCL2 associated X proteinBCL2-associated X protein omegaBaxdelta2G9Baxdelta2G9omegaBaxdelta2omegabcl-2-like protein 4bcl2-L-4
Modification date2020031320200322
UniProtAcc.

TMBIM6

Ensembl transtripts involved in fusion geneENST idsENST00000270225, ENST00000392776, 
ENST00000413379, ENST00000598840, 
ENST00000540850, 
ENST00000293288, 
ENST00000354470, ENST00000391871, 
ENST00000415969, ENST00000345358, 
ENST00000539787, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score17 X 10 X 12=20404 X 3 X 3=36
# samples 196
** MAII scorelog2(19/2040*10)=-3.42449782852791
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(6/36*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context (manual curation of fusion genes in FusionPDB)

PubMed: SAE1 [Title/Abstract] AND BAX [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)SAE1(47646862)-BAX(49464067), # samples:3
Anticipated loss of major functional domain due to fusion event.SAE1-BAX 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.
SAE1-BAX 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.
SAE1-BAX 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.
SAE1-BAX 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.
SAE1-BAX seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
SAE1-BAX seems lost the major protein functional domain in Tgene partner, which is a CGC due to the frame-shifted ORF.
SAE1-BAX seems lost the major protein functional domain in Tgene partner, which is a tumor suppressor 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
HgeneSAE1

GO:0016925

protein sumoylation

15660128|20164921

HgeneSAE1

GO:0033235

positive regulation of protein sumoylation

10187858

TgeneBAX

GO:0001783

B cell apoptotic process

15214043|16424160

TgeneBAX

GO:0001836

release of cytochrome c from mitochondria

9843949|16199525|17052454

TgeneBAX

GO:0006915

apoptotic process

9660918

TgeneBAX

GO:0006919

activation of cysteine-type endopeptidase activity involved in apoptotic process

11912183

TgeneBAX

GO:0008053

mitochondrial fusion

14769861

TgeneBAX

GO:0008635

activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c

15214043

TgeneBAX

GO:0008637

apoptotic mitochondrial changes

9843949

TgeneBAX

GO:0009636

response to toxic substance

16307838

TgeneBAX

GO:0010248

establishment or maintenance of transmembrane electrochemical gradient

9843949

TgeneBAX

GO:0010917

negative regulation of mitochondrial membrane potential

16751333

TgeneBAX

GO:0031334

positive regulation of protein complex assembly

9111042|19805544

TgeneBAX

GO:0032091

negative regulation of protein binding

9388232

TgeneBAX

GO:0032976

release of matrix enzymes from mitochondria

9843949

TgeneBAX

GO:0043065

positive regulation of apoptotic process

16751333|17464193

TgeneBAX

GO:0043525

positive regulation of neuron apoptotic process

15637643

TgeneBAX

GO:0043653

mitochondrial fragmentation involved in apoptotic process

12499352

TgeneBAX

GO:0051881

regulation of mitochondrial membrane potential

9843949

TgeneBAX

GO:0090200

positive regulation of release of cytochrome c from mitochondria

14963330

TgeneBAX

GO:0097190

apoptotic signaling pathway

16424160

TgeneBAX

GO:0097191

extrinsic apoptotic signaling pathway

15214043

TgeneBAX

GO:0097193

intrinsic apoptotic signaling pathway

9219694|16462759

TgeneBAX

GO:1990117

B cell receptor apoptotic signaling pathway

15214043


check buttonFusion gene breakpoints across SAE1 (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 BAX (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
ChimerDB4PRADTCGA-EJ-5532-01ASAE1chr19

47646862

-BAXchr19

49464067

+
ChimerDB4PRADTCGA-EJ-5532-01ASAE1chr19

47646862

+BAXchr19

49464067

+
ChimerDB4PRADTCGA-EJ-5532SAE1chr19

47646862

+BAXchr19

49464066

+
ChimerDB4PRADTCGA-EJ-5532SAE1chr19

47646862

+BAXchr19

49464067

+


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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)
ENST00000413379SAE1chr1947646862+ENST00000345358BAXchr1949464067+68431218521167
ENST00000598840SAE1chr1947646862+ENST00000345358BAXchr1949464067+6753039512167
ENST00000270225SAE1chr1947646862+ENST00000345358BAXchr1949464067+65027829487152
ENST00000392776SAE1chr1947646862+ENST00000345358BAXchr1949464067+61824636455139
ENST00000413379SAE1chr1947646862+ENST00000345358BAXchr1949464066+68431218521167
ENST00000598840SAE1chr1947646862+ENST00000345358BAXchr1949464066+6753039512167
ENST00000270225SAE1chr1947646862+ENST00000345358BAXchr1949464066+65027829487152
ENST00000392776SAE1chr1947646862+ENST00000345358BAXchr1949464066+61824636455139

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
ENST00000413379ENST00000345358SAE1chr1947646862+BAXchr1949464067+0.017033730.9829663
ENST00000598840ENST00000345358SAE1chr1947646862+BAXchr1949464067+0.0171706960.9828293
ENST00000270225ENST00000345358SAE1chr1947646862+BAXchr1949464067+0.0195684150.9804316
ENST00000392776ENST00000345358SAE1chr1947646862+BAXchr1949464067+0.0197763460.98022366
ENST00000413379ENST00000345358SAE1chr1947646862+BAXchr1949464066+0.017033730.9829663
ENST00000598840ENST00000345358SAE1chr1947646862+BAXchr1949464066+0.0171706960.9828293
ENST00000270225ENST00000345358SAE1chr1947646862+BAXchr1949464066+0.0195684150.9804316
ENST00000392776ENST00000345358SAE1chr1947646862+BAXchr1949464066+0.0197763460.98022366

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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

>79005_79005_1_SAE1-BAX_SAE1_chr19_47646862_ENST00000270225_BAX_chr19_49464066_ENST00000345358_length(amino acids)=152AA_BP=82
MSGTGAEAGRAGAMVEKEEAGGGISEEEAAQYDRQIRLWGLEAQKRLRASRVLLVGLKGLGAEIAKNLILAGVKGLTMLDHEQALCTKVP

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

>79005_79005_2_SAE1-BAX_SAE1_chr19_47646862_ENST00000270225_BAX_chr19_49464067_ENST00000345358_length(amino acids)=152AA_BP=82
MSGTGAEAGRAGAMVEKEEAGGGISEEEAAQYDRQIRLWGLEAQKRLRASRVLLVGLKGLGAEIAKNLILAGVKGLTMLDHEQALCTKVP

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

>79005_79005_3_SAE1-BAX_SAE1_chr19_47646862_ENST00000392776_BAX_chr19_49464066_ENST00000345358_length(amino acids)=139AA_BP=69
MVEKEEAGGGISEEEAAQYDRQIRLWGLEAQKRLRASRVLLVGLKGLGAEIAKNLILAGVKGLTMLDHEQALCTKVPELIRTIMGWTLDF

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

>79005_79005_4_SAE1-BAX_SAE1_chr19_47646862_ENST00000392776_BAX_chr19_49464067_ENST00000345358_length(amino acids)=139AA_BP=69
MVEKEEAGGGISEEEAAQYDRQIRLWGLEAQKRLRASRVLLVGLKGLGAEIAKNLILAGVKGLTMLDHEQALCTKVPELIRTIMGWTLDF

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

>79005_79005_5_SAE1-BAX_SAE1_chr19_47646862_ENST00000413379_BAX_chr19_49464066_ENST00000345358_length(amino acids)=167AA_BP=97
MPAAVGGARVRRAVGLSGTGAEAGRAGAMVEKEEAGGGISEEEAAQYDRQIRLWGLEAQKRLRASRVLLVGLKGLGAEIAKNLILAGVKG

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

>79005_79005_6_SAE1-BAX_SAE1_chr19_47646862_ENST00000413379_BAX_chr19_49464067_ENST00000345358_length(amino acids)=167AA_BP=97
MPAAVGGARVRRAVGLSGTGAEAGRAGAMVEKEEAGGGISEEEAAQYDRQIRLWGLEAQKRLRASRVLLVGLKGLGAEIAKNLILAGVKG

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

>79005_79005_7_SAE1-BAX_SAE1_chr19_47646862_ENST00000598840_BAX_chr19_49464066_ENST00000345358_length(amino acids)=167AA_BP=97
MPAAVGGARVRRAVGLSGTGAEAGRAGAMVEKEEAGGGISEEEAAQYDRQIRLWGLEAQKRLRASRVLLVGLKGLGAEIAKNLILAGVKG

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

>79005_79005_8_SAE1-BAX_SAE1_chr19_47646862_ENST00000598840_BAX_chr19_49464067_ENST00000345358_length(amino acids)=167AA_BP=97
MPAAVGGARVRRAVGLSGTGAEAGRAGAMVEKEEAGGGISEEEAAQYDRQIRLWGLEAQKRLRASRVLLVGLKGLGAEIAKNLILAGVKG

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

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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/chr19:47646862/chr19:49464067)
- 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
.BAX

TMBIM6

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.237

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
TgeneBAXchr19:47646862chr19:49464066ENST0000029328835150_165123.0219.0MotifNote=BH2
TgeneBAXchr19:47646862chr19:49464066ENST0000034535836150_165123.0193.0MotifNote=BH2
TgeneBAXchr19:47646862chr19:49464066ENST0000035447025150_16574.0144.0MotifNote=BH2
TgeneBAXchr19:47646862chr19:49464066ENST000003544702598_11874.0144.0MotifNote=BH1
TgeneBAXchr19:47646862chr19:49464066ENST0000039187125150_165105.6666666666666788.33333333333333MotifNote=BH2
TgeneBAXchr19:47646862chr19:49464066ENST0000041596936150_165123.0180.0MotifNote=BH2
TgeneBAXchr19:47646862chr19:49464067ENST0000029328835150_165123.0219.0MotifNote=BH2
TgeneBAXchr19:47646862chr19:49464067ENST0000034535836150_165123.0193.0MotifNote=BH2
TgeneBAXchr19:47646862chr19:49464067ENST0000035447025150_16574.0144.0MotifNote=BH2
TgeneBAXchr19:47646862chr19:49464067ENST000003544702598_11874.0144.0MotifNote=BH1
TgeneBAXchr19:47646862chr19:49464067ENST0000039187125150_165105.6666666666666788.33333333333333MotifNote=BH2
TgeneBAXchr19:47646862chr19:49464067ENST0000041596936150_165123.0180.0MotifNote=BH2
TgeneBAXchr19:47646862chr19:49464066ENST0000029328835172_192123.0219.0TransmembraneHelical
TgeneBAXchr19:47646862chr19:49464066ENST0000034535836172_192123.0193.0TransmembraneHelical
TgeneBAXchr19:47646862chr19:49464066ENST0000035447025172_19274.0144.0TransmembraneHelical
TgeneBAXchr19:47646862chr19:49464066ENST0000039187125172_192105.6666666666666788.33333333333333TransmembraneHelical
TgeneBAXchr19:47646862chr19:49464066ENST0000041596936172_192123.0180.0TransmembraneHelical
TgeneBAXchr19:47646862chr19:49464066ENST0000053978747172_192155.66666666666666205.66666666666666TransmembraneHelical
TgeneBAXchr19:47646862chr19:49464067ENST0000029328835172_192123.0219.0TransmembraneHelical
TgeneBAXchr19:47646862chr19:49464067ENST0000034535836172_192123.0193.0TransmembraneHelical
TgeneBAXchr19:47646862chr19:49464067ENST0000035447025172_19274.0144.0TransmembraneHelical
TgeneBAXchr19:47646862chr19:49464067ENST0000039187125172_192105.6666666666666788.33333333333333TransmembraneHelical
TgeneBAXchr19:47646862chr19:49464067ENST0000041596936172_192123.0180.0TransmembraneHelical
TgeneBAXchr19:47646862chr19:49464067ENST0000053978747172_192155.66666666666666205.66666666666666TransmembraneHelical

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
TgeneBAXchr19:47646862chr19:49464066ENST000002932883559_73123.0219.0MotifNote=BH3
TgeneBAXchr19:47646862chr19:49464066ENST000002932883598_118123.0219.0MotifNote=BH1
TgeneBAXchr19:47646862chr19:49464066ENST000003453583659_73123.0193.0MotifNote=BH3
TgeneBAXchr19:47646862chr19:49464066ENST000003453583698_118123.0193.0MotifNote=BH1
TgeneBAXchr19:47646862chr19:49464066ENST000003544702559_7374.0144.0MotifNote=BH3
TgeneBAXchr19:47646862chr19:49464066ENST000003918712559_73105.6666666666666788.33333333333333MotifNote=BH3
TgeneBAXchr19:47646862chr19:49464066ENST000003918712598_118105.6666666666666788.33333333333333MotifNote=BH1
TgeneBAXchr19:47646862chr19:49464066ENST000004159693659_73123.0180.0MotifNote=BH3
TgeneBAXchr19:47646862chr19:49464066ENST000004159693698_118123.0180.0MotifNote=BH1
TgeneBAXchr19:47646862chr19:49464066ENST0000053978747150_165155.66666666666666205.66666666666666MotifNote=BH2
TgeneBAXchr19:47646862chr19:49464066ENST000005397874759_73155.66666666666666205.66666666666666MotifNote=BH3
TgeneBAXchr19:47646862chr19:49464066ENST000005397874798_118155.66666666666666205.66666666666666MotifNote=BH1
TgeneBAXchr19:47646862chr19:49464067ENST000002932883559_73123.0219.0MotifNote=BH3
TgeneBAXchr19:47646862chr19:49464067ENST000002932883598_118123.0219.0MotifNote=BH1
TgeneBAXchr19:47646862chr19:49464067ENST000003453583659_73123.0193.0MotifNote=BH3
TgeneBAXchr19:47646862chr19:49464067ENST000003453583698_118123.0193.0MotifNote=BH1
TgeneBAXchr19:47646862chr19:49464067ENST000003544702559_7374.0144.0MotifNote=BH3
TgeneBAXchr19:47646862chr19:49464067ENST000003918712559_73105.6666666666666788.33333333333333MotifNote=BH3
TgeneBAXchr19:47646862chr19:49464067ENST000003918712598_118105.6666666666666788.33333333333333MotifNote=BH1
TgeneBAXchr19:47646862chr19:49464067ENST000004159693659_73123.0180.0MotifNote=BH3
TgeneBAXchr19:47646862chr19:49464067ENST000004159693698_118123.0180.0MotifNote=BH1
TgeneBAXchr19:47646862chr19:49464067ENST0000053978747150_165155.66666666666666205.66666666666666MotifNote=BH2
TgeneBAXchr19:47646862chr19:49464067ENST000005397874759_73155.66666666666666205.66666666666666MotifNote=BH3
TgeneBAXchr19:47646862chr19:49464067ENST000005397874798_118155.66666666666666205.66666666666666MotifNote=BH1


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Fusion Protein Structures

check button PDB and CIF files of the predicted fusion proteins
* Here we show the 3D structure of the fusion proteins using Mol*. AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100. Model confidence is shown from the pLDDT values per residue. pLDDT corresponds to the model’s prediction of its score on the local Distance Difference Test. It is a measure of local accuracy (from AlphfaFold website). To color code individual residues, we transformed individual PDB files into CIF format.
Fusion protein PDB link (fusion AA seq ID in FusionPDB)HgeneHchrHbpHstrandTgeneTchrTbpTstrandAA seqLen(AA seq)
PDB file >>>175_SAE1_47646862_BAX_49464067_ranked_0.pdbSAE14764686247646862ENST00000345358BAXchr1949464067+
MPAAVGGARVRRAVGLSGTGAEAGRAGAMVEKEEAGGGISEEEAAQYDRQIRLWGLEAQKRLRASRVLLVGLKGLGAEIAKNLILAGVKG
167


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pLDDT score distribution

check button pLDDT score distribution of the predicted wild-type structures of two partner proteins from AlphaFold2
* AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100.
SAE1_pLDDT.png
all structure
all structure
BAX_pLDDT.png
all structure
all structure

check button pLDDT score distribution of the predicted fusion protein structures from AlphaFold2
* AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100.
all structure


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Ramachandran Plot of Fusion Protein Structure


check button Ramachandran plot of the torsional angles - phi (φ)and psi (ψ) - of the residues (amino acids) contained in this fusion protein peptide.
Fusion AA seq ID in FusionPDB and their Ramachandran plots

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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
SAE1
BAX


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 SAE1-BAX


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 SAE1-BAX


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