UTHEALTH HOME    ABOUT SBMI    A-Z    WEBMAIL    INSIDE THE UNIVERSITY
FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact

Terms of Use

Center for Computational Systems Medicine level1
leaf

Fusion Gene Summary

leaf

Fusion Gene Sample Information

leaf

Fusion ORF Analysis

leaf

Fusion Amino Acid Sequences

leaf

Fusion Protein Functional Features

leaf

Fusion Protein-Protein Interaction

leaf

Related drugs with this fusion protein

leaf

Related disease with this fusion protein

Fusion Protein:SPOP-AARSD1

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: SPOP-AARSD1
FusionPDB ID: 85928
FusionGDB2.0 ID: 85928
HgeneTgene
Gene symbol

SPOP

AARSD1

Gene ID

8405

80755

Gene namespeckle type BTB/POZ proteinalanyl-tRNA synthetase domain containing 1
SynonymsBTBD32|TEF2-
Cytomap

17q21.33

17q21.31

Type of geneprotein-codingprotein-coding
Descriptionspeckle-type POZ proteinHIB homolog 1roadkill homolog 1alanyl-tRNA editing protein Aarsd1alanyl-tRNA synthetase domain-containing protein 1
Modification date2020032920200313
UniProtAcc.

Q9BTE6

Ensembl transtripts involved in fusion geneENST idsENST00000347630, ENST00000393328, 
ENST00000393331, ENST00000503676, 
ENST00000504102, ENST00000513080, 
ENST00000416949, ENST00000427569, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score37 X 22 X 16=130246 X 4 X 6=144
# samples 466
** MAII scorelog2(46/13024*10)=-4.82339493332187
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(6/144*10)=-1.26303440583379
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)

PubMed: SPOP [Title/Abstract] AND AARSD1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)SPOP(47688642)-AARSD1(41116254), # samples:1
Anticipated loss of major functional domain due to fusion event.SPOP-AARSD1 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.
SPOP-AARSD1 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.
SPOP-AARSD1 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.
SPOP-AARSD1 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.
SPOP-AARSD1 seems lost the major protein functional domain in Hgene partner, which is a CGC due to the frame-shifted ORF.
SPOP-AARSD1 seems lost the major protein functional domain in Hgene partner, which is a epigenetic factor due to the frame-shifted ORF.
SPOP-AARSD1 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
SPOP-AARSD1 seems lost the major protein functional domain in Hgene 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

check buttonFusion gene breakpoints across SPOP (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 AARSD1 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure


Top

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
ChimerDB4ACCTCGA-OR-A5KT-01ASPOPchr17

47688642

-AARSD1chr17

41116254

-


Top

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)
ENST00000393328SPOPchr1747688642-ENST00000427569AARSD1chr1741116254-2271102410602223387
ENST00000503676SPOPchr1747688642-ENST00000427569AARSD1chr1741116254-2537129013262489387

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
ENST00000393328ENST00000427569SPOPchr1747688642-AARSD1chr1741116254-0.0010103180.99898964
ENST00000503676ENST00000427569SPOPchr1747688642-AARSD1chr1741116254-0.0007815620.99921846

Top

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

>85928_85928_1_SPOP-AARSD1_SPOP_chr17_47688642_ENST00000393328_AARSD1_chr17_41116254_ENST00000427569_length(amino acids)=387AA_BP=
MQTEGSNGKKEVLSGFQVVLEDTVLFPEGGGQPDDRGTINDISVLRVTRRGEQADHFTQTPLDPGSQVLVRVDWERRFDHMQQHSGQHLI
TAVADHLFKLKTTSWELGRFRSAIELDTPSMTAEQVAAIEQSVNEKIRDRLPVNVRELSLDDPEVEQVSGRGLPDDHAGPIRVVNIEGVD
SNMCCGTHVSNLSDLQVIKILGTEKGKKNRTNLIFLSGNRVLKWMERSHGTEKALTALLKCGAEDHVEAVKKLQNSTKILQKNNLNLLRD
LAVHIAHSLRNSPDWGGVVILHRKEGDSEFMNIIANEIGSEETLLFLTVGDEKGGGLFLLAGPPASVETLGPRVAEVLEGKGAGKKGRFQ

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

>85928_85928_2_SPOP-AARSD1_SPOP_chr17_47688642_ENST00000503676_AARSD1_chr17_41116254_ENST00000427569_length(amino acids)=387AA_BP=
MQTEGSNGKKEVLSGFQVVLEDTVLFPEGGGQPDDRGTINDISVLRVTRRGEQADHFTQTPLDPGSQVLVRVDWERRFDHMQQHSGQHLI
TAVADHLFKLKTTSWELGRFRSAIELDTPSMTAEQVAAIEQSVNEKIRDRLPVNVRELSLDDPEVEQVSGRGLPDDHAGPIRVVNIEGVD
SNMCCGTHVSNLSDLQVIKILGTEKGKKNRTNLIFLSGNRVLKWMERSHGTEKALTALLKCGAEDHVEAVKKLQNSTKILQKNNLNLLRD
LAVHIAHSLRNSPDWGGVVILHRKEGDSEFMNIIANEIGSEETLLFLTVGDEKGGGLFLLAGPPASVETLGPRVAEVLEGKGAGKKGRFQ

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

Top

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/chr17:47688642/chr17:41116254)
- 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
.AARSD1

Q9BTE6

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: Functions in trans to edit the amino acid moiety from incorrectly charged tRNA(Ala). {ECO:0000250}.

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
HgeneSPOPchr17:47688642chr17:41116254ENST00000347630-71131_161219.33333333333334375.0DomainMATH
HgeneSPOPchr17:47688642chr17:41116254ENST00000393328-71131_161219.33333333333334375.0DomainMATH
HgeneSPOPchr17:47688642chr17:41116254ENST00000393331-81231_161219.33333333333334375.0DomainMATH
HgeneSPOPchr17:47688642chr17:41116254ENST00000503676-71131_161219.33333333333334375.0DomainMATH
HgeneSPOPchr17:47688642chr17:41116254ENST00000504102-61031_161219.33333333333334375.0DomainMATH
HgeneSPOPchr17:47688642chr17:41116254ENST00000347630-711123_133219.33333333333334375.0RegionNote=Important for binding substrate proteins
HgeneSPOPchr17:47688642chr17:41116254ENST00000347630-711186_217219.33333333333334375.0RegionNote=Important for homodimerization
HgeneSPOPchr17:47688642chr17:41116254ENST00000347630-71171_191219.33333333333334375.0RegionNote=Required for nuclear localization
HgeneSPOPchr17:47688642chr17:41116254ENST00000393328-711123_133219.33333333333334375.0RegionNote=Important for binding substrate proteins
HgeneSPOPchr17:47688642chr17:41116254ENST00000393328-711186_217219.33333333333334375.0RegionNote=Important for homodimerization
HgeneSPOPchr17:47688642chr17:41116254ENST00000393328-71171_191219.33333333333334375.0RegionNote=Required for nuclear localization
HgeneSPOPchr17:47688642chr17:41116254ENST00000393331-812123_133219.33333333333334375.0RegionNote=Important for binding substrate proteins
HgeneSPOPchr17:47688642chr17:41116254ENST00000393331-812186_217219.33333333333334375.0RegionNote=Important for homodimerization
HgeneSPOPchr17:47688642chr17:41116254ENST00000393331-81271_191219.33333333333334375.0RegionNote=Required for nuclear localization
HgeneSPOPchr17:47688642chr17:41116254ENST00000503676-711123_133219.33333333333334375.0RegionNote=Important for binding substrate proteins
HgeneSPOPchr17:47688642chr17:41116254ENST00000503676-711186_217219.33333333333334375.0RegionNote=Important for homodimerization
HgeneSPOPchr17:47688642chr17:41116254ENST00000503676-71171_191219.33333333333334375.0RegionNote=Required for nuclear localization
HgeneSPOPchr17:47688642chr17:41116254ENST00000504102-610123_133219.33333333333334375.0RegionNote=Important for binding substrate proteins
HgeneSPOPchr17:47688642chr17:41116254ENST00000504102-610186_217219.33333333333334375.0RegionNote=Important for homodimerization
HgeneSPOPchr17:47688642chr17:41116254ENST00000504102-61071_191219.33333333333334375.0RegionNote=Required for nuclear localization

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneSPOPchr17:47688642chr17:41116254ENST00000347630-711173_297219.33333333333334375.0DomainBTB
HgeneSPOPchr17:47688642chr17:41116254ENST00000393328-711173_297219.33333333333334375.0DomainBTB
HgeneSPOPchr17:47688642chr17:41116254ENST00000393331-812173_297219.33333333333334375.0DomainBTB
HgeneSPOPchr17:47688642chr17:41116254ENST00000503676-711173_297219.33333333333334375.0DomainBTB
HgeneSPOPchr17:47688642chr17:41116254ENST00000504102-610173_297219.33333333333334375.0DomainBTB
HgeneSPOPchr17:47688642chr17:41116254ENST00000347630-711297_355219.33333333333334375.0RegionNote=Important for homodimerization
HgeneSPOPchr17:47688642chr17:41116254ENST00000393328-711297_355219.33333333333334375.0RegionNote=Important for homodimerization
HgeneSPOPchr17:47688642chr17:41116254ENST00000393331-812297_355219.33333333333334375.0RegionNote=Important for homodimerization
HgeneSPOPchr17:47688642chr17:41116254ENST00000503676-711297_355219.33333333333334375.0RegionNote=Important for homodimerization
HgeneSPOPchr17:47688642chr17:41116254ENST00000504102-610297_355219.33333333333334375.0RegionNote=Important for homodimerization


Top

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
SPOP
AARSD1


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


Top

Related Drugs to SPOP-AARSD1


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

Top

Related Diseases to SPOP-AARSD1


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