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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:ASNSD1-SUPT6H

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: ASNSD1-SUPT6H
FusionPDB ID: 7196
FusionGDB2.0 ID: 7196
HgeneTgene
Gene symbol

ASNSD1

SUPT6H

Gene ID

110599588

6830

Gene nameASNSD1 upstream reading frameSPT6 homolog, histone chaperone and transcription elongation factor
SynonymsASNSD1|ASNSD1-SEP|NS3TP1SPT6|SPT6H|emb-5
Cytomap

2q32

17q11.2

Type of geneprotein-codingprotein-coding
DescriptionASNSD1 upstream open reading frame proteinAsparagine synthetase domain-containing protein 1HCV NS3-transactivated protein 1alternative protein ASNSD1transcription elongation factor SPT6histone chaperone suppressor of Ty6suppressor of Ty 6 homologtat-CT2 proteintat-cotransactivator 2 protein
Modification date2020030320200313
UniProtAcc

Q9NWL6

.
Ensembl transtripts involved in fusion geneENST idsENST00000260952, ENST00000607062, 
ENST00000607535, ENST00000607690, 
ENST00000607829, 
ENST00000314616, 
ENST00000347486, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score3 X 2 X 3=188 X 11 X 5=440
# samples 311
** MAII scorelog2(3/18*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(11/440*10)=-2
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)

PubMed: ASNSD1 [Title/Abstract] AND SUPT6H [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)ASNSD1(190526339)-SUPT6H(27020712), # samples:2
Anticipated loss of major functional domain due to fusion event.ASNSD1-SUPT6H 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.
ASNSD1-SUPT6H 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.
ASNSD1-SUPT6H 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.
ASNSD1-SUPT6H 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 ASNSD1 (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 SUPT6H (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
ChiTaRS5.0N/ABC073963ASNSD1chr2

190526339

+SUPT6Hchr17

27020712

+
ChiTaRS5.0N/ABM469052ASNSD1chr2

190526339

+SUPT6Hchr17

27020712

+


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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)
ENST00000607535ASNSD1chr2190526339+ENST00000314616SUPT6Hchr1727020712+2754152471699550
ENST00000607535ASNSD1chr2190526339+ENST00000347486SUPT6Hchr1727020712+1810152471699550
ENST00000607690ASNSD1chr2190526339+ENST00000314616SUPT6Hchr1727020712+26929001637545
ENST00000607690ASNSD1chr2190526339+ENST00000347486SUPT6Hchr1727020712+17489001637545
ENST00000607829ASNSD1chr2190526339+ENST00000314616SUPT6Hchr1727020712+26929001637545
ENST00000607829ASNSD1chr2190526339+ENST00000347486SUPT6Hchr1727020712+17489001637545

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
ENST00000607535ENST00000314616ASNSD1chr2190526339+SUPT6Hchr1727020712+0.0178519320.98214805
ENST00000607535ENST00000347486ASNSD1chr2190526339+SUPT6Hchr1727020712+0.0132555570.98674446
ENST00000607690ENST00000314616ASNSD1chr2190526339+SUPT6Hchr1727020712+0.0177905110.98220944
ENST00000607690ENST00000347486ASNSD1chr2190526339+SUPT6Hchr1727020712+0.012374190.9876258
ENST00000607829ENST00000314616ASNSD1chr2190526339+SUPT6Hchr1727020712+0.0177905110.98220944
ENST00000607829ENST00000347486ASNSD1chr2190526339+SUPT6Hchr1727020712+0.012374190.9876258

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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

>7196_7196_1_ASNSD1-SUPT6H_ASNSD1_chr2_190526339_ENST00000607535_SUPT6H_chr17_27020712_ENST00000314616_length(amino acids)=550AA_BP=35
MRSVEMPSRGTRPEDSSVLIPTDNSTPHKEDLSSKVWNHFDSGSCPGQAIGVKTRLDNGVTGFIPTKFLSDKVVKRPEERVKVGMTVHCR
IMKIDIEKFSADLTCRTSDLMDRNNEWKLPKDTYYDFDAEAADHKQEEDMKRKQQRTTYIKRVIAHPSFHNINFKQAEKMMETMDQGDVI
IRPSSKGENHLTVTWKVSDGIYQHVDVREEGKENAFSLGATLWINSEEFEDLDEIVARYVQPMASFARDLLNHKYYQDCSGGDRKKLEEL
LIKTKKEKPTFIPYFICACKELPGKFLLGYQPRGKPRIEYVTVTPEGFRYRGQIFPTVNGLFRWFKDHYQDPVPGITPSSSSRTRTPASI
NATPANINLADLTRAVNALPQNMTSQMFSAIAAVTGQGQNPNATPAQWASSQYGYGGSGGGSSAYHVFPTPAQQPVATPLMTPSYSYTTP
SQPITTPQYHQLQASTTPQSAQAQPQPSSSSRQRQQQPKSNSHAAIDWGKMAEQWLQEKEAERRKQKQRLTPRPSPSPMIESTPMSIAGD

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

>7196_7196_2_ASNSD1-SUPT6H_ASNSD1_chr2_190526339_ENST00000607535_SUPT6H_chr17_27020712_ENST00000347486_length(amino acids)=550AA_BP=35
MRSVEMPSRGTRPEDSSVLIPTDNSTPHKEDLSSKVWNHFDSGSCPGQAIGVKTRLDNGVTGFIPTKFLSDKVVKRPEERVKVGMTVHCR
IMKIDIEKFSADLTCRTSDLMDRNNEWKLPKDTYYDFDAEAADHKQEEDMKRKQQRTTYIKRVIAHPSFHNINFKQAEKMMETMDQGDVI
IRPSSKGENHLTVTWKVSDGIYQHVDVREEGKENAFSLGATLWINSEEFEDLDEIVARYVQPMASFARDLLNHKYYQDCSGGDRKKLEEL
LIKTKKEKPTFIPYFICACKELPGKFLLGYQPRGKPRIEYVTVTPEGFRYRGQIFPTVNGLFRWFKDHYQDPVPGITPSSSSRTRTPASI
NATPANINLADLTRAVNALPQNMTSQMFSAIAAVTGQGQNPNATPAQWASSQYGYGGSGGGSSAYHVFPTPAQQPVATPLMTPSYSYTTP
SQPITTPQYHQLQASTTPQSAQAQPQPSSSSRQRQQQPKSNSHAAIDWGKMAEQWLQEKEAERRKQKQRLTPRPSPSPMIESTPMSIAGD

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

>7196_7196_3_ASNSD1-SUPT6H_ASNSD1_chr2_190526339_ENST00000607690_SUPT6H_chr17_27020712_ENST00000314616_length(amino acids)=545AA_BP=30
MPSRGTRPEDSSVLIPTDNSTPHKEDLSSKVWNHFDSGSCPGQAIGVKTRLDNGVTGFIPTKFLSDKVVKRPEERVKVGMTVHCRIMKID
IEKFSADLTCRTSDLMDRNNEWKLPKDTYYDFDAEAADHKQEEDMKRKQQRTTYIKRVIAHPSFHNINFKQAEKMMETMDQGDVIIRPSS
KGENHLTVTWKVSDGIYQHVDVREEGKENAFSLGATLWINSEEFEDLDEIVARYVQPMASFARDLLNHKYYQDCSGGDRKKLEELLIKTK
KEKPTFIPYFICACKELPGKFLLGYQPRGKPRIEYVTVTPEGFRYRGQIFPTVNGLFRWFKDHYQDPVPGITPSSSSRTRTPASINATPA
NINLADLTRAVNALPQNMTSQMFSAIAAVTGQGQNPNATPAQWASSQYGYGGSGGGSSAYHVFPTPAQQPVATPLMTPSYSYTTPSQPIT
TPQYHQLQASTTPQSAQAQPQPSSSSRQRQQQPKSNSHAAIDWGKMAEQWLQEKEAERRKQKQRLTPRPSPSPMIESTPMSIAGDATPLL

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

>7196_7196_4_ASNSD1-SUPT6H_ASNSD1_chr2_190526339_ENST00000607690_SUPT6H_chr17_27020712_ENST00000347486_length(amino acids)=545AA_BP=30
MPSRGTRPEDSSVLIPTDNSTPHKEDLSSKVWNHFDSGSCPGQAIGVKTRLDNGVTGFIPTKFLSDKVVKRPEERVKVGMTVHCRIMKID
IEKFSADLTCRTSDLMDRNNEWKLPKDTYYDFDAEAADHKQEEDMKRKQQRTTYIKRVIAHPSFHNINFKQAEKMMETMDQGDVIIRPSS
KGENHLTVTWKVSDGIYQHVDVREEGKENAFSLGATLWINSEEFEDLDEIVARYVQPMASFARDLLNHKYYQDCSGGDRKKLEELLIKTK
KEKPTFIPYFICACKELPGKFLLGYQPRGKPRIEYVTVTPEGFRYRGQIFPTVNGLFRWFKDHYQDPVPGITPSSSSRTRTPASINATPA
NINLADLTRAVNALPQNMTSQMFSAIAAVTGQGQNPNATPAQWASSQYGYGGSGGGSSAYHVFPTPAQQPVATPLMTPSYSYTTPSQPIT
TPQYHQLQASTTPQSAQAQPQPSSSSRQRQQQPKSNSHAAIDWGKMAEQWLQEKEAERRKQKQRLTPRPSPSPMIESTPMSIAGDATPLL

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

>7196_7196_5_ASNSD1-SUPT6H_ASNSD1_chr2_190526339_ENST00000607829_SUPT6H_chr17_27020712_ENST00000314616_length(amino acids)=545AA_BP=30
MPSRGTRPEDSSVLIPTDNSTPHKEDLSSKVWNHFDSGSCPGQAIGVKTRLDNGVTGFIPTKFLSDKVVKRPEERVKVGMTVHCRIMKID
IEKFSADLTCRTSDLMDRNNEWKLPKDTYYDFDAEAADHKQEEDMKRKQQRTTYIKRVIAHPSFHNINFKQAEKMMETMDQGDVIIRPSS
KGENHLTVTWKVSDGIYQHVDVREEGKENAFSLGATLWINSEEFEDLDEIVARYVQPMASFARDLLNHKYYQDCSGGDRKKLEELLIKTK
KEKPTFIPYFICACKELPGKFLLGYQPRGKPRIEYVTVTPEGFRYRGQIFPTVNGLFRWFKDHYQDPVPGITPSSSSRTRTPASINATPA
NINLADLTRAVNALPQNMTSQMFSAIAAVTGQGQNPNATPAQWASSQYGYGGSGGGSSAYHVFPTPAQQPVATPLMTPSYSYTTPSQPIT
TPQYHQLQASTTPQSAQAQPQPSSSSRQRQQQPKSNSHAAIDWGKMAEQWLQEKEAERRKQKQRLTPRPSPSPMIESTPMSIAGDATPLL

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

>7196_7196_6_ASNSD1-SUPT6H_ASNSD1_chr2_190526339_ENST00000607829_SUPT6H_chr17_27020712_ENST00000347486_length(amino acids)=545AA_BP=30
MPSRGTRPEDSSVLIPTDNSTPHKEDLSSKVWNHFDSGSCPGQAIGVKTRLDNGVTGFIPTKFLSDKVVKRPEERVKVGMTVHCRIMKID
IEKFSADLTCRTSDLMDRNNEWKLPKDTYYDFDAEAADHKQEEDMKRKQQRTTYIKRVIAHPSFHNINFKQAEKMMETMDQGDVIIRPSS
KGENHLTVTWKVSDGIYQHVDVREEGKENAFSLGATLWINSEEFEDLDEIVARYVQPMASFARDLLNHKYYQDCSGGDRKKLEELLIKTK
KEKPTFIPYFICACKELPGKFLLGYQPRGKPRIEYVTVTPEGFRYRGQIFPTVNGLFRWFKDHYQDPVPGITPSSSSRTRTPASINATPA
NINLADLTRAVNALPQNMTSQMFSAIAAVTGQGQNPNATPAQWASSQYGYGGSGGGSSAYHVFPTPAQQPVATPLMTPSYSYTTPSQPIT
TPQYHQLQASTTPQSAQAQPQPSSSSRQRQQQPKSNSHAAIDWGKMAEQWLQEKEAERRKQKQRLTPRPSPSPMIESTPMSIAGDATPLL

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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/chr2:190526339/chr17:27020712)
- 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
ASNSD1

Q9NWL6

.
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
TgeneSUPT6Hchr2:190526339chr17:27020712ENST0000031461626371525_15281211.01727.0Compositional biasNote=Poly-Ser
TgeneSUPT6Hchr2:190526339chr17:27020712ENST0000031461626371654_16571211.01727.0Compositional biasNote=Poly-Ser
TgeneSUPT6Hchr2:190526339chr17:27020712ENST0000034748627381525_15281211.01727.0Compositional biasNote=Poly-Ser
TgeneSUPT6Hchr2:190526339chr17:27020712ENST0000034748627381654_16571211.01727.0Compositional biasNote=Poly-Ser
TgeneSUPT6Hchr2:190526339chr17:27020712ENST0000031461626371213_12821211.01727.0DomainS1 motif
TgeneSUPT6Hchr2:190526339chr17:27020712ENST0000031461626371325_14311211.01727.0DomainSH2
TgeneSUPT6Hchr2:190526339chr17:27020712ENST0000034748627381213_12821211.01727.0DomainS1 motif
TgeneSUPT6Hchr2:190526339chr17:27020712ENST0000034748627381325_14311211.01727.0DomainSH2

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneASNSD1chr2:190526339chr17:27020712ENST00000260952+16285_6010644.0DomainNote=Asparagine synthetase
HgeneASNSD1chr2:190526339chr17:27020712ENST00000260952+162_1840644.0DomainGlutamine amidotransferase type-2
TgeneSUPT6Hchr2:190526339chr17:27020712ENST0000031461626376_2501211.01727.0Compositional biasNote=Asp/Glu-rich
TgeneSUPT6Hchr2:190526339chr17:27020712ENST0000034748627386_2501211.01727.0Compositional biasNote=Asp/Glu-rich


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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 >>>1178_ASNSD1_190526339_SUPT6H_27020712_1178_ASNSD1_190526339_SUPT6H_27020712_ranked_0.pdbASNSD1190526339190526339ENST00000347486SUPT6Hchr1727020712+
MRSVEMPSRGTRPEDSSVLIPTDNSTPHKEDLSSKVWNHFDSGSCPGQAIGVKTRLDNGVTGFIPTKFLSDKVVKRPEERVKVGMTVHCR
IMKIDIEKFSADLTCRTSDLMDRNNEWKLPKDTYYDFDAEAADHKQEEDMKRKQQRTTYIKRVIAHPSFHNINFKQAEKMMETMDQGDVI
IRPSSKGENHLTVTWKVSDGIYQHVDVREEGKENAFSLGATLWINSEEFEDLDEIVARYVQPMASFARDLLNHKYYQDCSGGDRKKLEEL
LIKTKKEKPTFIPYFICACKELPGKFLLGYQPRGKPRIEYVTVTPEGFRYRGQIFPTVNGLFRWFKDHYQDPVPGITPSSSSRTRTPASI
NATPANINLADLTRAVNALPQNMTSQMFSAIAAVTGQGQNPNATPAQWASSQYGYGGSGGGSSAYHVFPTPAQQPVATPLMTPSYSYTTP
SQPITTPQYHQLQASTTPQSAQAQPQPSSSSRQRQQQPKSNSHAAIDWGKMAEQWLQEKEAERRKQKQRLTPRPSPSPMIESTPMSIAGD
550


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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.
ASNSD1_pLDDT.png
all structure
all structure
SUPT6H_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
ASNSD1
SUPT6H


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
TgeneSUPT6Hchr2:190526339chr17:27020712ENST0000031461626372_4851211.01727.0IWS1
TgeneSUPT6Hchr2:190526339chr17:27020712ENST0000034748627382_4851211.01727.0IWS1
TgeneSUPT6Hchr2:190526339chr17:27020712ENST000003146162637317_13001211.01727.0KDM6A
TgeneSUPT6Hchr2:190526339chr17:27020712ENST000003474862738317_13001211.01727.0KDM6A
TgeneSUPT6Hchr2:190526339chr17:27020712ENST0000031461626372_9161211.01727.0PAAF1
TgeneSUPT6Hchr2:190526339chr17:27020712ENST0000034748627382_9161211.01727.0PAAF1


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Related Drugs to ASNSD1-SUPT6H


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 ASNSD1-SUPT6H


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