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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:RARRES3-SSU72

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: RARRES3-SSU72
FusionPDB ID: 72357
FusionGDB2.0 ID: 72357
HgeneTgene
Gene symbol

RARRES3

SSU72

Gene ID

5920

29101

Gene namephospholipase A and acyltransferase 4SSU72 homolog, RNA polymerase II CTD phosphatase
SynonymsHRASLS4|HRSL4|PLA1/2-3|PLAAT-4|RARRES3|RIG1|TIG3HSPC182|PNAS-120
Cytomap

11q12.3

1p36.33

Type of geneprotein-codingprotein-coding
Descriptionphospholipase A and acyltransferase 4HRAS-like suppressor 4RAR-responsive protein TIG3phospholipase A/acyltransferase-4retinoic acid receptor responder (tazarotene induced) 3retinoic acid receptor responder 3retinoic acid receptor responder protein RNA polymerase II subunit A C-terminal domain phosphatase SSU72CTD phosphatase SSU72
Modification date2020032020200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST idsENST00000255688, ENST00000354445, 
ENST00000439013, ENST00000537871, 
ENST00000359060, ENST00000291386, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score5 X 5 X 3=7514 X 7 X 10=980
# samples 517
** MAII scorelog2(5/75*10)=-0.584962500721156
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(17/980*10)=-2.52724700286487
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)

PubMed: RARRES3 [Title/Abstract] AND SSU72 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)RARRES3(63307017)-SSU72(1479348), # samples:1
Anticipated loss of major functional domain due to fusion event.RARRES3-SSU72 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.
RARRES3-SSU72 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
HgeneRARRES3

GO:0006644

phospholipid metabolic process

20100577

HgeneRARRES3

GO:0070292

N-acylphosphatidylethanolamine metabolic process

22825852

TgeneSSU72

GO:0070940

dephosphorylation of RNA polymerase II C-terminal domain

20861839


check buttonFusion gene breakpoints across RARRES3 (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 SSU72 (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/ABG212153RARRES3chr11

63307017

+SSU72chr1

1479348

-


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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)
ENST00000439013RARRES3chr1163307017+ENST00000291386SSU72chr11479348-73614191441116
ENST00000255688RARRES3chr1163307017+ENST00000291386SSU72chr11479348-73113686436116
ENST00000354445RARRES3chr1163307017+ENST00000291386SSU72chr11479348-6939848398116

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
ENST00000439013ENST00000291386RARRES3chr1163307017+SSU72chr11479348-0.65627750.34372255
ENST00000255688ENST00000291386RARRES3chr1163307017+SSU72chr11479348-0.71280420.28719577
ENST00000354445ENST00000291386RARRES3chr1163307017+SSU72chr11479348-0.528881550.47111842

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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

>72357_72357_1_RARRES3-SSU72_RARRES3_chr11_63307017_ENST00000255688_SSU72_chr1_1479348_ENST00000291386_length(amino acids)=116AA_BP=
MGPVYRRWLRDPSGSSKSSTRKTWRTRSTSCCRSSRRRVAAPFCTPSASTEPSARMEPPLELPVVHTFSFLTFVFTYRCSAGDGSITQIN

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

>72357_72357_2_RARRES3-SSU72_RARRES3_chr11_63307017_ENST00000354445_SSU72_chr1_1479348_ENST00000291386_length(amino acids)=116AA_BP=
MGPVYRRWLRDPSGSSKSSTRKTWRTRSTSCCRSSRRRVAAPFCTPSASTEPSARMEPPLELPVVHTFSFLTFVFTYRCSAGDGSITQIN

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

>72357_72357_3_RARRES3-SSU72_RARRES3_chr11_63307017_ENST00000439013_SSU72_chr1_1479348_ENST00000291386_length(amino acids)=116AA_BP=
MGPVYRRWLRDPSGSSKSSTRKTWRTRSTSCCRSSRRRVAAPFCTPSASTEPSARMEPPLELPVVHTFSFLTFVFTYRCSAGDGSITQIN

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

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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/chr11:63307017/chr1:1479348)
- 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
TgeneSSU72chr11:63307017chr1:1479348ENST0000029138605160_1860195.0Coiled coilOntology_term=ECO:0000255
TgeneSSU72chr11:63307017chr1:1479348ENST0000035906002160_1860154.0Coiled coilOntology_term=ECO:0000255

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneRARRES3chr11:63307017chr1:1479348ENST00000255688+1413_1290165.0DomainLRAT
HgeneRARRES3chr11:63307017chr1:1479348ENST00000439013+1313_1290157.0DomainLRAT
HgeneRARRES3chr11:63307017chr1:1479348ENST00000255688+141_400165.0RegionEssential for its ability regulate keratinocyte differentiation
HgeneRARRES3chr11:63307017chr1:1479348ENST00000439013+131_400157.0RegionEssential for its ability regulate keratinocyte differentiation
HgeneRARRES3chr11:63307017chr1:1479348ENST00000255688+14156_1640165.0Topological domainLumenal
HgeneRARRES3chr11:63307017chr1:1479348ENST00000255688+141_1340165.0Topological domainCytoplasmic
HgeneRARRES3chr11:63307017chr1:1479348ENST00000439013+13156_1640157.0Topological domainLumenal
HgeneRARRES3chr11:63307017chr1:1479348ENST00000439013+131_1340157.0Topological domainCytoplasmic
HgeneRARRES3chr11:63307017chr1:1479348ENST00000255688+14135_1550165.0TransmembraneHelical
HgeneRARRES3chr11:63307017chr1:1479348ENST00000439013+13135_1550157.0TransmembraneHelical


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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
RARRES3
SSU72


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
HgeneRARRES3chr11:63307017chr1:1479348ENST00000255688+14124_1640165.0TGM1
HgeneRARRES3chr11:63307017chr1:1479348ENST00000439013+13124_1640157.0TGM1


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Related Drugs to RARRES3-SSU72


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 RARRES3-SSU72


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