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Center for Computational Systems Medicine
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Fusion Gene Summary

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Fusion Gene ORF analysis

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Fusion Genomic Features

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Fusion Protein Features

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Fusion Gene Sequence

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Fusion Gene PPI analysis

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Related Drugs

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Related Diseases

Fusion gene:RARRES3-SSU72 (FusionGDB2 ID:71902)

Fusion Gene Summary for RARRES3-SSU72

check button Fusion gene summary
Fusion gene informationFusion gene name: RARRES3-SSU72
Fusion gene ID: 71902
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 geneENST00000537871, ENST00000439013, 
ENST00000255688, ENST00000354445, 
ENST00000291386, ENST00000359060, 
Fusion gene scores* 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

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

Most frequent breakpointRARRES3(63307017)-SSU72(1479348), # samples:1
Anticipated loss of major functional domain due to fusion event.
* 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.

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.

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 Gene ORF analysis for RARRES3-SSU72

check button Open reading frame (ORF) analsis of fusion genes based on Ensembl gene isoform structure.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
intron-3CDSENST00000537871ENST00000291386RARRES3chr11

63307017

+SSU72chr1

1479348

-
intron-intronENST00000537871ENST00000359060RARRES3chr11

63307017

+SSU72chr1

1479348

-
In-frameENST00000439013ENST00000291386RARRES3chr11

63307017

+SSU72chr1

1479348

-
5CDS-intronENST00000439013ENST00000359060RARRES3chr11

63307017

+SSU72chr1

1479348

-
In-frameENST00000255688ENST00000291386RARRES3chr11

63307017

+SSU72chr1

1479348

-
5CDS-intronENST00000255688ENST00000359060RARRES3chr11

63307017

+SSU72chr1

1479348

-
In-frameENST00000354445ENST00000291386RARRES3chr11

63307017

+SSU72chr1

1479348

-
5CDS-intronENST00000354445ENST00000359060RARRES3chr11

63307017

+SSU72chr1

1479348

-

check buttonORFfinder result based on the fusion transcript sequence of in-frame fusion genes.
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 Genomic Features for RARRES3-SSU72


check buttonFusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints.
HgeneHchrHbpHstrandTgeneTchrTbpTstrand1-pp (fusion gene breakpoint)

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page.

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page.

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Fusion Protein Features for RARRES3-SSU72


check button Go to

FGviewer for the breakpoints of 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.
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.
- In-frame and 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

- In-frame and 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 Gene Sequence for RARRES3-SSU72


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones.
>In-frame_ENST00000439013_ENST00000291386_BG212153_RARRES3_chr11_63307017_+_SSU72_chr1_1479348_length(transcript)=736nt_BP=141nt
ATAAAAGCTGATCCACAAACAAGAGGAGCACCAGACCTCCTCTTGGCTTCGAGATGGCTTCGATTGAGATTTTCCGCCTTGGCTATGAGC
ACTGGGCCCTGTATATAGGAGATGGCTACGTGATCCATCTGGCTCCTCCAAATCCAGCACACGGAAGACATGGAGAACGAGATCGACGAG
CTGCTGCAGGAGTTCGAGGAGAAGAGTGGCCGCACCTTTCTGCACACCGTCTGCTTCTACTGAGCCCAGCGCCCGCATGGAGCCGCCTCT
GGAGCTTCCTGTTGTTCATACTTTTTCCTTCCTGACATTTGTTTTTACTTACAGGTGTTCTGCTGGTGACGGTAGCATTACCCAAATAAA
CTGTGCATATGAAATGGGAGAGGAGATGCCAAAACGCCAGATGAAAGCAATCAAGTTTCTTCTTTTCCACTTTTACTTATGAGCAGGATA
TTGATTACAAAGTTTTTCTTCTTTAACCAAAAAGGAAAGACAACGGTTTGTGTGCACTTCCCGACATACCTGTGTCTTCGTGTGCCTGCC
TTCCCTCCCTCCTCCCCACCGGGCCGGACTGTACAGAGCCCTGCTGCGGCGTGTTAGGAATGACCTGGAATTGTCAATAAACAGATGCTG
CTGTCAGGAGACCTGCCAGCCTGTGCACGTGGTCAATGTGGACATCCAGGACAACCACGAGGAGGCCACCCTGGGGGCGTTTCTCATCTG

>In-frame_ENST00000439013_ENST00000291386_BG212153_RARRES3_chr11_63307017_+_SSU72_chr1_1479348_length(amino acids)=116AA_start in transcript=91_stop in transcript=441
MGPVYRRWLRDPSGSSKSSTRKTWRTRSTSCCRSSRRRVAAPFCTPSASTEPSARMEPPLELPVVHTFSFLTFVFTYRCSAGDGSITQIN

--------------------------------------------------------------
>In-frame_ENST00000255688_ENST00000291386_BG212153_RARRES3_chr11_63307017_+_SSU72_chr1_1479348_length(transcript)=731nt_BP=136nt
AGCTGATCCACAAACAAGAGGAGCACCAGACCTCCTCTTGGCTTCGAGATGGCTTCGATTGAGATTTTCCGCCTTGGCTATGAGCACTGG
GCCCTGTATATAGGAGATGGCTACGTGATCCATCTGGCTCCTCCAAATCCAGCACACGGAAGACATGGAGAACGAGATCGACGAGCTGCT
GCAGGAGTTCGAGGAGAAGAGTGGCCGCACCTTTCTGCACACCGTCTGCTTCTACTGAGCCCAGCGCCCGCATGGAGCCGCCTCTGGAGC
TTCCTGTTGTTCATACTTTTTCCTTCCTGACATTTGTTTTTACTTACAGGTGTTCTGCTGGTGACGGTAGCATTACCCAAATAAACTGTG
CATATGAAATGGGAGAGGAGATGCCAAAACGCCAGATGAAAGCAATCAAGTTTCTTCTTTTCCACTTTTACTTATGAGCAGGATATTGAT
TACAAAGTTTTTCTTCTTTAACCAAAAAGGAAAGACAACGGTTTGTGTGCACTTCCCGACATACCTGTGTCTTCGTGTGCCTGCCTTCCC
TCCCTCCTCCCCACCGGGCCGGACTGTACAGAGCCCTGCTGCGGCGTGTTAGGAATGACCTGGAATTGTCAATAAACAGATGCTGCTGTC
AGGAGACCTGCCAGCCTGTGCACGTGGTCAATGTGGACATCCAGGACAACCACGAGGAGGCCACCCTGGGGGCGTTTCTCATCTGTGAGC

>In-frame_ENST00000255688_ENST00000291386_BG212153_RARRES3_chr11_63307017_+_SSU72_chr1_1479348_length(amino acids)=116AA_start in transcript=86_stop in transcript=436
MGPVYRRWLRDPSGSSKSSTRKTWRTRSTSCCRSSRRRVAAPFCTPSASTEPSARMEPPLELPVVHTFSFLTFVFTYRCSAGDGSITQIN

--------------------------------------------------------------
>In-frame_ENST00000354445_ENST00000291386_BG212153_RARRES3_chr11_63307017_+_SSU72_chr1_1479348_length(transcript)=693nt_BP=98nt
ATGGGGCTGCCTGAACCAAATTGAGATTTTCCGCCTTGGCTATGAGCACTGGGCCCTGTATATAGGAGATGGCTACGTGATCCATCTGGC
TCCTCCAAATCCAGCACACGGAAGACATGGAGAACGAGATCGACGAGCTGCTGCAGGAGTTCGAGGAGAAGAGTGGCCGCACCTTTCTGC
ACACCGTCTGCTTCTACTGAGCCCAGCGCCCGCATGGAGCCGCCTCTGGAGCTTCCTGTTGTTCATACTTTTTCCTTCCTGACATTTGTT
TTTACTTACAGGTGTTCTGCTGGTGACGGTAGCATTACCCAAATAAACTGTGCATATGAAATGGGAGAGGAGATGCCAAAACGCCAGATG
AAAGCAATCAAGTTTCTTCTTTTCCACTTTTACTTATGAGCAGGATATTGATTACAAAGTTTTTCTTCTTTAACCAAAAAGGAAAGACAA
CGGTTTGTGTGCACTTCCCGACATACCTGTGTCTTCGTGTGCCTGCCTTCCCTCCCTCCTCCCCACCGGGCCGGACTGTACAGAGCCCTG
CTGCGGCGTGTTAGGAATGACCTGGAATTGTCAATAAACAGATGCTGCTGTCAGGAGACCTGCCAGCCTGTGCACGTGGTCAATGTGGAC

>In-frame_ENST00000354445_ENST00000291386_BG212153_RARRES3_chr11_63307017_+_SSU72_chr1_1479348_length(amino acids)=116AA_start in transcript=48_stop in transcript=398
MGPVYRRWLRDPSGSSKSSTRKTWRTRSTSCCRSSRRRVAAPFCTPSASTEPSARMEPPLELPVVHTFSFLTFVFTYRCSAGDGSITQIN

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

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Fusion Gene PPI Analysis for RARRES3-SSU72


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 (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with
HgeneRARRES3chr11:63307017chr1:1479348ENST00000255688+14124_1640165.0TGM1
HgeneRARRES3chr11:63307017chr1:1479348ENST00000439013+13124_1640157.0TGM1


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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Related Drugs for RARRES3-SSU72


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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Related Diseases for RARRES3-SSU72


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource