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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:SYS1-SMYD3

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: SYS1-SMYD3
FusionPDB ID: 88525
FusionGDB2.0 ID: 88525
HgeneTgene
Gene symbol

SYS1

SMYD3

Gene ID

90196

64754

Gene nameSYS1 golgi trafficking proteinSET and MYND domain containing 3
SynonymsC20orf169|dJ453C12.4|dJ453C12.4.1KMT3E|ZMYND1|ZNFN3A1|bA74P14.1
Cytomap

20q13.12

1q44

Type of geneprotein-codingprotein-coding
Descriptionprotein SYS1 homologSYS1 Golgi-localized integral membrane protein homologhistone-lysine N-methyltransferase SMYD3SET and MYND domain-containing protein 3bA74P14.1 (novel protein)zinc finger MYND domain-containing protein 1zinc finger protein, subfamily 3A (MYND domain containing), 1zinc finger, MYND domain containing 1
Modification date2020031320200320
UniProtAcc..
Ensembl transtripts involved in fusion geneENST idsENST00000479779, ENST00000243918, 
ENST00000372727, ENST00000414310, 
ENST00000426004, 
ENST00000388985, 
ENST00000490107, ENST00000541742, 
ENST00000366517, ENST00000403792, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score3 X 3 X 3=2729 X 14 X 17=6902
# samples 447
** MAII scorelog2(4/27*10)=0.567040592723894
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(47/6902*10)=-3.87628181187052
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)

PubMed: SYS1 [Title/Abstract] AND SMYD3 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)SYS1(43994326)-SMYD3(245927451), # samples:2
Anticipated loss of major functional domain due to fusion event.SYS1-SMYD3 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.
SYS1-SMYD3 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

check buttonFusion gene breakpoints across SYS1 (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 SMYD3 (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
ChimerDB4GBMTCGA-06-2557-01ASYS1chr20

43994326

+SMYD3chr1

245927451

-
ChimerDB4GBMTCGA-06-2557SYS1chr20

43994326

+SMYD3chr1

245927451

-


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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)
ENST00000372727SYS1chr2043994326+ENST00000541742SMYD3chr1245927451-90747399683194
ENST00000372727SYS1chr2043994326+ENST00000490107SMYD3chr1245927451-90547399683194
ENST00000372727SYS1chr2043994326+ENST00000388985SMYD3chr1245927451-68447399683194
ENST00000414310SYS1chr2043994326+ENST00000541742SMYD3chr1245927451-87844485654189
ENST00000414310SYS1chr2043994326+ENST00000490107SMYD3chr1245927451-87644485654189
ENST00000414310SYS1chr2043994326+ENST00000388985SMYD3chr1245927451-65544485654190
ENST00000243918SYS1chr2043994326+ENST00000541742SMYD3chr1245927451-95552130731233
ENST00000243918SYS1chr2043994326+ENST00000490107SMYD3chr1245927451-95352130731233
ENST00000243918SYS1chr2043994326+ENST00000388985SMYD3chr1245927451-73252130731233
ENST00000426004SYS1chr2043994326+ENST00000541742SMYD3chr1245927451-84441036620194
ENST00000426004SYS1chr2043994326+ENST00000490107SMYD3chr1245927451-84241036620194
ENST00000426004SYS1chr2043994326+ENST00000388985SMYD3chr1245927451-62141036620194

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
ENST00000372727ENST00000541742SYS1chr2043994326+SMYD3chr1245927451-0.0130981130.9869019
ENST00000372727ENST00000490107SYS1chr2043994326+SMYD3chr1245927451-0.0133670280.98663294
ENST00000372727ENST00000388985SYS1chr2043994326+SMYD3chr1245927451-0.0165394970.9834605
ENST00000414310ENST00000541742SYS1chr2043994326+SMYD3chr1245927451-0.0199979920.9800019
ENST00000414310ENST00000490107SYS1chr2043994326+SMYD3chr1245927451-0.0203676480.9796323
ENST00000414310ENST00000388985SYS1chr2043994326+SMYD3chr1245927451-0.0251004860.97489953
ENST00000243918ENST00000541742SYS1chr2043994326+SMYD3chr1245927451-0.0356711450.9643289
ENST00000243918ENST00000490107SYS1chr2043994326+SMYD3chr1245927451-0.035354910.96464515
ENST00000243918ENST00000388985SYS1chr2043994326+SMYD3chr1245927451-0.0315692650.96843076
ENST00000426004ENST00000541742SYS1chr2043994326+SMYD3chr1245927451-0.0196885950.9803114
ENST00000426004ENST00000490107SYS1chr2043994326+SMYD3chr1245927451-0.0203250030.979675
ENST00000426004ENST00000388985SYS1chr2043994326+SMYD3chr1245927451-0.022747110.9772529

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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

>88525_88525_1_SYS1-SMYD3_SYS1_chr20_43994326_ENST00000243918_SMYD3_chr1_245927451_ENST00000388985_length(amino acids)=233AA_BP=164
MLVPGSGGSGRGCTHYACATSAPPLRCFPRKRFFPTQPLLPPWSLELCLSRPAAPLLHGPVCQRCFGSPPVRPGHAQTLRSSSLSLGMAG
QFRSYVWDPLLILSQIVLMQTVYYGSLGLWLALVDGLVRSSPSLDQMFDAEILGFSTPPGRLSMMSFILNALTWIFFPGSHPVRGVQVMK

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

>88525_88525_2_SYS1-SMYD3_SYS1_chr20_43994326_ENST00000243918_SMYD3_chr1_245927451_ENST00000490107_length(amino acids)=233AA_BP=164
MLVPGSGGSGRGCTHYACATSAPPLRCFPRKRFFPTQPLLPPWSLELCLSRPAAPLLHGPVCQRCFGSPPVRPGHAQTLRSSSLSLGMAG
QFRSYVWDPLLILSQIVLMQTVYYGSLGLWLALVDGLVRSSPSLDQMFDAEILGFSTPPGRLSMMSFILNALTWIFFPGSHPVRGVQVMK

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

>88525_88525_3_SYS1-SMYD3_SYS1_chr20_43994326_ENST00000243918_SMYD3_chr1_245927451_ENST00000541742_length(amino acids)=233AA_BP=164
MLVPGSGGSGRGCTHYACATSAPPLRCFPRKRFFPTQPLLPPWSLELCLSRPAAPLLHGPVCQRCFGSPPVRPGHAQTLRSSSLSLGMAG
QFRSYVWDPLLILSQIVLMQTVYYGSLGLWLALVDGLVRSSPSLDQMFDAEILGFSTPPGRLSMMSFILNALTWIFFPGSHPVRGVQVMK

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

>88525_88525_4_SYS1-SMYD3_SYS1_chr20_43994326_ENST00000372727_SMYD3_chr1_245927451_ENST00000388985_length(amino acids)=194AA_BP=125
MPPWSLELCLSRPAAPLLHGPVCQRCFGSPPVRPGHAQTLRSSSLSLGMAGQFRSYVWDPLLILSQIVLMQTVYYGSLGLWLALVDGLVR
SSPSLDQMFDAEILGFSTPPGRLSMMSFILNALTWIFFPGSHPVRGVQVMKVGKLQLHQGMFPQAMKNLRLAFDIMRVTHGREHSLIEDL

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

>88525_88525_5_SYS1-SMYD3_SYS1_chr20_43994326_ENST00000372727_SMYD3_chr1_245927451_ENST00000490107_length(amino acids)=194AA_BP=125
MPPWSLELCLSRPAAPLLHGPVCQRCFGSPPVRPGHAQTLRSSSLSLGMAGQFRSYVWDPLLILSQIVLMQTVYYGSLGLWLALVDGLVR
SSPSLDQMFDAEILGFSTPPGRLSMMSFILNALTWIFFPGSHPVRGVQVMKVGKLQLHQGMFPQAMKNLRLAFDIMRVTHGREHSLIEDL

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

>88525_88525_6_SYS1-SMYD3_SYS1_chr20_43994326_ENST00000372727_SMYD3_chr1_245927451_ENST00000541742_length(amino acids)=194AA_BP=125
MPPWSLELCLSRPAAPLLHGPVCQRCFGSPPVRPGHAQTLRSSSLSLGMAGQFRSYVWDPLLILSQIVLMQTVYYGSLGLWLALVDGLVR
SSPSLDQMFDAEILGFSTPPGRLSMMSFILNALTWIFFPGSHPVRGVQVMKVGKLQLHQGMFPQAMKNLRLAFDIMRVTHGREHSLIEDL

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

>88525_88525_7_SYS1-SMYD3_SYS1_chr20_43994326_ENST00000414310_SMYD3_chr1_245927451_ENST00000388985_length(amino acids)=190AA_BP=120
MPPWSLELCLSRPAAPLLHGPVCQRCFGSPPVRPGHAQTLRSSSLSLFRSYVWDPLLILSQIVLMQTVYYGSLGLWLALVDGLVRSSPSL
DQMFDAEILGFSTPPGRLSMMSFILNALTWIFFPGSHPVRGVQVMKVGKLQLHQGMFPQAMKNLRLAFDIMRVTHGREHSLIEDLILLLE

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

>88525_88525_8_SYS1-SMYD3_SYS1_chr20_43994326_ENST00000414310_SMYD3_chr1_245927451_ENST00000490107_length(amino acids)=189AA_BP=120
MPPWSLELCLSRPAAPLLHGPVCQRCFGSPPVRPGHAQTLRSSSLSLFRSYVWDPLLILSQIVLMQTVYYGSLGLWLALVDGLVRSSPSL
DQMFDAEILGFSTPPGRLSMMSFILNALTWIFFPGSHPVRGVQVMKVGKLQLHQGMFPQAMKNLRLAFDIMRVTHGREHSLIEDLILLLE

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

>88525_88525_9_SYS1-SMYD3_SYS1_chr20_43994326_ENST00000414310_SMYD3_chr1_245927451_ENST00000541742_length(amino acids)=189AA_BP=120
MPPWSLELCLSRPAAPLLHGPVCQRCFGSPPVRPGHAQTLRSSSLSLFRSYVWDPLLILSQIVLMQTVYYGSLGLWLALVDGLVRSSPSL
DQMFDAEILGFSTPPGRLSMMSFILNALTWIFFPGSHPVRGVQVMKVGKLQLHQGMFPQAMKNLRLAFDIMRVTHGREHSLIEDLILLLE

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

>88525_88525_10_SYS1-SMYD3_SYS1_chr20_43994326_ENST00000426004_SMYD3_chr1_245927451_ENST00000388985_length(amino acids)=194AA_BP=125
MPPWSLELCLSRPAAPLLHGPVCQRCFGSPPVRPGHAQTLRSSSLSLGMAGQFRSYVWDPLLILSQIVLMQTVYYGSLGLWLALVDGLVR
SSPSLDQMFDAEILGFSTPPGRLSMMSFILNALTWIFFPGSHPVRGVQVMKVGKLQLHQGMFPQAMKNLRLAFDIMRVTHGREHSLIEDL

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

>88525_88525_11_SYS1-SMYD3_SYS1_chr20_43994326_ENST00000426004_SMYD3_chr1_245927451_ENST00000490107_length(amino acids)=194AA_BP=125
MPPWSLELCLSRPAAPLLHGPVCQRCFGSPPVRPGHAQTLRSSSLSLGMAGQFRSYVWDPLLILSQIVLMQTVYYGSLGLWLALVDGLVR
SSPSLDQMFDAEILGFSTPPGRLSMMSFILNALTWIFFPGSHPVRGVQVMKVGKLQLHQGMFPQAMKNLRLAFDIMRVTHGREHSLIEDL

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

>88525_88525_12_SYS1-SMYD3_SYS1_chr20_43994326_ENST00000426004_SMYD3_chr1_245927451_ENST00000541742_length(amino acids)=194AA_BP=125
MPPWSLELCLSRPAAPLLHGPVCQRCFGSPPVRPGHAQTLRSSSLSLGMAGQFRSYVWDPLLILSQIVLMQTVYYGSLGLWLALVDGLVR
SSPSLDQMFDAEILGFSTPPGRLSMMSFILNALTWIFFPGSHPVRGVQVMKVGKLQLHQGMFPQAMKNLRLAFDIMRVTHGREHSLIEDL

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

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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/chr20:43994326/chr1:245927451)
- 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: 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: 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.
- Retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneSYS1chr20:43994326chr1:245927451ENST00000243918+3413_3376.66666666666667157.0TransmembraneHelical
HgeneSYS1chr20:43994326chr1:245927451ENST00000372727+4513_3376.66666666666667157.0TransmembraneHelical
HgeneSYS1chr20:43994326chr1:245927451ENST00000426004+3413_3376.6666666666666777.0TransmembraneHelical

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneSYS1chr20:43994326chr1:245927451ENST00000243918+34113_13376.66666666666667157.0TransmembraneHelical
HgeneSYS1chr20:43994326chr1:245927451ENST00000243918+3465_8576.66666666666667157.0TransmembraneHelical
HgeneSYS1chr20:43994326chr1:245927451ENST00000243918+3491_11176.66666666666667157.0TransmembraneHelical
HgeneSYS1chr20:43994326chr1:245927451ENST00000372727+45113_13376.66666666666667157.0TransmembraneHelical
HgeneSYS1chr20:43994326chr1:245927451ENST00000372727+4565_8576.66666666666667157.0TransmembraneHelical
HgeneSYS1chr20:43994326chr1:245927451ENST00000372727+4591_11176.66666666666667157.0TransmembraneHelical
HgeneSYS1chr20:43994326chr1:245927451ENST00000426004+34113_13376.6666666666666777.0TransmembraneHelical
HgeneSYS1chr20:43994326chr1:245927451ENST00000426004+3465_8576.6666666666666777.0TransmembraneHelical
HgeneSYS1chr20:43994326chr1:245927451ENST00000426004+3491_11176.6666666666666777.0TransmembraneHelical
TgeneSMYD3chr20:43994326chr1:245927451ENST000003889859124_240358.6666666666667429.0DomainSET
TgeneSMYD3chr20:43994326chr1:245927451ENST000004901079124_240299.6666666666667370.0DomainSET
TgeneSMYD3chr20:43994326chr1:245927451ENST000005417429124_240299.6666666666667370.0DomainSET
TgeneSMYD3chr20:43994326chr1:245927451ENST0000038898591214_16358.6666666666667429.0RegionS-adenosyl-L-methionine binding
TgeneSMYD3chr20:43994326chr1:245927451ENST00000388985912205_206358.6666666666667429.0RegionS-adenosyl-L-methionine binding
TgeneSMYD3chr20:43994326chr1:245927451ENST0000049010791214_16299.6666666666667370.0RegionS-adenosyl-L-methionine binding
TgeneSMYD3chr20:43994326chr1:245927451ENST00000490107912205_206299.6666666666667370.0RegionS-adenosyl-L-methionine binding
TgeneSMYD3chr20:43994326chr1:245927451ENST0000054174291214_16299.6666666666667370.0RegionS-adenosyl-L-methionine binding
TgeneSMYD3chr20:43994326chr1:245927451ENST00000541742912205_206299.6666666666667370.0RegionS-adenosyl-L-methionine binding
TgeneSMYD3chr20:43994326chr1:245927451ENST0000038898591249_87358.6666666666667429.0Zinc fingerMYND-type
TgeneSMYD3chr20:43994326chr1:245927451ENST0000049010791249_87299.6666666666667370.0Zinc fingerMYND-type
TgeneSMYD3chr20:43994326chr1:245927451ENST0000054174291249_87299.6666666666667370.0Zinc fingerMYND-type


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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 >>>364_SYS1_43994326_SMYD3_245927451_ranked_0.pdbSYS14399432643994326ENST00000388985SMYD3chr1245927451-
MLVPGSGGSGRGCTHYACATSAPPLRCFPRKRFFPTQPLLPPWSLELCLSRPAAPLLHGPVCQRCFGSPPVRPGHAQTLRSSSLSLGMAG
QFRSYVWDPLLILSQIVLMQTVYYGSLGLWLALVDGLVRSSPSLDQMFDAEILGFSTPPGRLSMMSFILNALTWIFFPGSHPVRGVQVMK
233


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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.
SYS1_pLDDT.png
all structure
all structure
SMYD3_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
SYS1
SMYD3


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 SYS1-SMYD3


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 SYS1-SMYD3


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