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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:RPL29-ACY1 (FusionGDB2 ID:75920)

Fusion Gene Summary for RPL29-ACY1

check button Fusion gene summary
Fusion gene informationFusion gene name: RPL29-ACY1
Fusion gene ID: 75920
HgeneTgene
Gene symbol

RPL29

ACY1

Gene ID

6159

95

Gene nameribosomal protein L29aminoacylase 1
SynonymsHIP|HUMRPL29|L29|RPL29P10|RPL29_3_370ACY-1|ACY1D|HEL-S-5
Cytomap

3p21.2

3p21.2

Type of geneprotein-codingprotein-coding
Description60S ribosomal protein L29HP/HS-interacting proteincell surface heparin-binding protein HIPheparin/heparan sulfate-binding proteinheparin/heparan sulfate-interacting proteinlarge ribosomal subunit protein eL29ribosomal protein YL43 homologueaminoacylase-1N-acyl-L-amino-acid amidohydrolaseacylaseepididymis secretory protein Li 5
Modification date2020031320200313
UniProtAcc.

Q03154

Ensembl transtripts involved in fusion geneENST00000294189, ENST00000466397, 
ENST00000479017, ENST00000495383, 
ENST00000475248, ENST00000481629, 
ENST00000458031, ENST00000494103, 
ENST00000476854, ENST00000476351, 
ENST00000404366, ENST00000468068, 
Fusion gene scores* DoF score13 X 10 X 2=2603 X 6 X 3=54
# samples 224
** MAII scorelog2(22/260*10)=-0.241008099503795
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(4/54*10)=-0.432959407276106
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: RPL29 [Title/Abstract] AND ACY1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointRPL29(52027746)-ACY1(52020220), # samples:1
RPL29(52029058)-ACY1(52020271), # samples:1
Anticipated loss of major functional domain due to fusion event.RPL29-ACY1 seems lost the major protein functional domain in Hgene partner, which is a cell metabolism gene due to the frame-shifted ORF.
RPL29-ACY1 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
RPL29-ACY1 seems lost the major protein functional domain in Tgene partner, which is a tumor suppressor due to the frame-shifted ORF.
RPL29-ACY1 seems lost the major protein functional domain in Tgene partner, which is a cell metabolism gene 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 RPL29 (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 ACY1 (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
ChimerDB4UCECTCGA-D1-A3JQ-01ARPL29chr3

52027746

-ACY1chr3

52020220

+
ChimerDB4UCECTCGA-D1-A3JQ-01ARPL29chr3

52029058

-ACY1chr3

52020271

+


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Fusion Gene ORF analysis for RPL29-ACY1

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-intronENST00000294189ENST00000458031RPL29chr3

52027746

-ACY1chr3

52020220

+
intron-intronENST00000294189ENST00000494103RPL29chr3

52027746

-ACY1chr3

52020220

+
intron-intronENST00000294189ENST00000476854RPL29chr3

52027746

-ACY1chr3

52020220

+
intron-intronENST00000294189ENST00000476351RPL29chr3

52027746

-ACY1chr3

52020220

+
intron-intronENST00000294189ENST00000404366RPL29chr3

52027746

-ACY1chr3

52020220

+
intron-intronENST00000294189ENST00000468068RPL29chr3

52027746

-ACY1chr3

52020220

+
intron-intronENST00000466397ENST00000458031RPL29chr3

52027746

-ACY1chr3

52020220

+
intron-intronENST00000466397ENST00000494103RPL29chr3

52027746

-ACY1chr3

52020220

+
intron-intronENST00000466397ENST00000476854RPL29chr3

52027746

-ACY1chr3

52020220

+
intron-intronENST00000466397ENST00000476351RPL29chr3

52027746

-ACY1chr3

52020220

+
intron-intronENST00000466397ENST00000404366RPL29chr3

52027746

-ACY1chr3

52020220

+
intron-intronENST00000466397ENST00000468068RPL29chr3

52027746

-ACY1chr3

52020220

+
intron-intronENST00000479017ENST00000458031RPL29chr3

52027746

-ACY1chr3

52020220

+
intron-intronENST00000479017ENST00000494103RPL29chr3

52027746

-ACY1chr3

52020220

+
intron-intronENST00000479017ENST00000476854RPL29chr3

52027746

-ACY1chr3

52020220

+
intron-intronENST00000479017ENST00000476351RPL29chr3

52027746

-ACY1chr3

52020220

+
intron-intronENST00000479017ENST00000404366RPL29chr3

52027746

-ACY1chr3

52020220

+
intron-intronENST00000479017ENST00000468068RPL29chr3

52027746

-ACY1chr3

52020220

+
intron-intronENST00000495383ENST00000458031RPL29chr3

52027746

-ACY1chr3

52020220

+
intron-intronENST00000495383ENST00000494103RPL29chr3

52027746

-ACY1chr3

52020220

+
intron-intronENST00000495383ENST00000476854RPL29chr3

52027746

-ACY1chr3

52020220

+
intron-intronENST00000495383ENST00000476351RPL29chr3

52027746

-ACY1chr3

52020220

+
intron-intronENST00000495383ENST00000404366RPL29chr3

52027746

-ACY1chr3

52020220

+
intron-intronENST00000495383ENST00000468068RPL29chr3

52027746

-ACY1chr3

52020220

+
intron-intronENST00000475248ENST00000458031RPL29chr3

52027746

-ACY1chr3

52020220

+
intron-intronENST00000475248ENST00000494103RPL29chr3

52027746

-ACY1chr3

52020220

+
intron-intronENST00000475248ENST00000476854RPL29chr3

52027746

-ACY1chr3

52020220

+
intron-intronENST00000475248ENST00000476351RPL29chr3

52027746

-ACY1chr3

52020220

+
intron-intronENST00000475248ENST00000404366RPL29chr3

52027746

-ACY1chr3

52020220

+
intron-intronENST00000475248ENST00000468068RPL29chr3

52027746

-ACY1chr3

52020220

+
intron-intronENST00000481629ENST00000458031RPL29chr3

52027746

-ACY1chr3

52020220

+
intron-intronENST00000481629ENST00000494103RPL29chr3

52027746

-ACY1chr3

52020220

+
intron-intronENST00000481629ENST00000476854RPL29chr3

52027746

-ACY1chr3

52020220

+
intron-intronENST00000481629ENST00000476351RPL29chr3

52027746

-ACY1chr3

52020220

+
intron-intronENST00000481629ENST00000404366RPL29chr3

52027746

-ACY1chr3

52020220

+
intron-intronENST00000481629ENST00000468068RPL29chr3

52027746

-ACY1chr3

52020220

+
Frame-shiftENST00000294189ENST00000458031RPL29chr3

52029058

-ACY1chr3

52020271

+
5CDS-intronENST00000294189ENST00000494103RPL29chr3

52029058

-ACY1chr3

52020271

+
5CDS-intronENST00000294189ENST00000476854RPL29chr3

52029058

-ACY1chr3

52020271

+
5CDS-intronENST00000294189ENST00000476351RPL29chr3

52029058

-ACY1chr3

52020271

+
5CDS-intronENST00000294189ENST00000404366RPL29chr3

52029058

-ACY1chr3

52020271

+
5CDS-3UTRENST00000294189ENST00000468068RPL29chr3

52029058

-ACY1chr3

52020271

+
Frame-shiftENST00000466397ENST00000458031RPL29chr3

52029058

-ACY1chr3

52020271

+
5CDS-intronENST00000466397ENST00000494103RPL29chr3

52029058

-ACY1chr3

52020271

+
5CDS-intronENST00000466397ENST00000476854RPL29chr3

52029058

-ACY1chr3

52020271

+
5CDS-intronENST00000466397ENST00000476351RPL29chr3

52029058

-ACY1chr3

52020271

+
5CDS-intronENST00000466397ENST00000404366RPL29chr3

52029058

-ACY1chr3

52020271

+
5CDS-3UTRENST00000466397ENST00000468068RPL29chr3

52029058

-ACY1chr3

52020271

+
Frame-shiftENST00000479017ENST00000458031RPL29chr3

52029058

-ACY1chr3

52020271

+
5CDS-intronENST00000479017ENST00000494103RPL29chr3

52029058

-ACY1chr3

52020271

+
5CDS-intronENST00000479017ENST00000476854RPL29chr3

52029058

-ACY1chr3

52020271

+
5CDS-intronENST00000479017ENST00000476351RPL29chr3

52029058

-ACY1chr3

52020271

+
5CDS-intronENST00000479017ENST00000404366RPL29chr3

52029058

-ACY1chr3

52020271

+
5CDS-3UTRENST00000479017ENST00000468068RPL29chr3

52029058

-ACY1chr3

52020271

+
Frame-shiftENST00000495383ENST00000458031RPL29chr3

52029058

-ACY1chr3

52020271

+
5CDS-intronENST00000495383ENST00000494103RPL29chr3

52029058

-ACY1chr3

52020271

+
5CDS-intronENST00000495383ENST00000476854RPL29chr3

52029058

-ACY1chr3

52020271

+
5CDS-intronENST00000495383ENST00000476351RPL29chr3

52029058

-ACY1chr3

52020271

+
5CDS-intronENST00000495383ENST00000404366RPL29chr3

52029058

-ACY1chr3

52020271

+
5CDS-3UTRENST00000495383ENST00000468068RPL29chr3

52029058

-ACY1chr3

52020271

+
Frame-shiftENST00000475248ENST00000458031RPL29chr3

52029058

-ACY1chr3

52020271

+
5CDS-intronENST00000475248ENST00000494103RPL29chr3

52029058

-ACY1chr3

52020271

+
5CDS-intronENST00000475248ENST00000476854RPL29chr3

52029058

-ACY1chr3

52020271

+
5CDS-intronENST00000475248ENST00000476351RPL29chr3

52029058

-ACY1chr3

52020271

+
5CDS-intronENST00000475248ENST00000404366RPL29chr3

52029058

-ACY1chr3

52020271

+
5CDS-3UTRENST00000475248ENST00000468068RPL29chr3

52029058

-ACY1chr3

52020271

+
intron-3CDSENST00000481629ENST00000458031RPL29chr3

52029058

-ACY1chr3

52020271

+
intron-intronENST00000481629ENST00000494103RPL29chr3

52029058

-ACY1chr3

52020271

+
intron-intronENST00000481629ENST00000476854RPL29chr3

52029058

-ACY1chr3

52020271

+
intron-intronENST00000481629ENST00000476351RPL29chr3

52029058

-ACY1chr3

52020271

+
intron-intronENST00000481629ENST00000404366RPL29chr3

52029058

-ACY1chr3

52020271

+
intron-3UTRENST00000481629ENST00000468068RPL29chr3

52029058

-ACY1chr3

52020271

+

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)

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

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Fusion Genomic Features for RPL29-ACY1


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)
RPL29chr352029057-ACY1chr352020270+0.958022950.041977037
RPL29chr352029057-ACY1chr352020270+0.958022950.041977037

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 RPL29-ACY1


check button Go to

FGviewer for the breakpoints of :-:

.
- 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
.ACY1

Q03154

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: Involved in the hydrolysis of N-acylated or N-acetylated amino acids (except L-aspartate). {ECO:0000269|PubMed:12933810}.

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

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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Fusion Gene Sequence for RPL29-ACY1


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.

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Fusion Gene PPI Analysis for RPL29-ACY1


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


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 RPL29-ACY1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneACY1Q03154DB06151AcetylcysteineLigandSmall moleculeApproved|Investigational
TgeneACY1Q03154DB09130CopperSmall moleculeApproved|Investigational
TgeneACY1Q03154DB00128Aspartic acidSmall moleculeApproved|Nutraceutical

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Related Diseases for RPL29-ACY1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneACY1C1835922Aminoacylase 1 deficiency4CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneACY1C0007134Renal Cell Carcinoma1CTD_human
TgeneACY1C0032927Precancerous Conditions1CTD_human
TgeneACY1C0279702Conventional (Clear Cell) Renal Cell Carcinoma1CTD_human
TgeneACY1C0282313Condition, Preneoplastic1CTD_human
TgeneACY1C1266042Chromophobe Renal Cell Carcinoma1CTD_human
TgeneACY1C1266043Sarcomatoid Renal Cell Carcinoma1CTD_human
TgeneACY1C1266044Collecting Duct Carcinoma of the Kidney1CTD_human
TgeneACY1C1306837Papillary Renal Cell Carcinoma1CTD_human
TgeneACY1C3714756Intellectual Disability1GENOMICS_ENGLAND