FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact
Center for Computational Systems Medicine
leaf

Fusion Gene Summary

leaf

Fusion Gene ORF analysis

leaf

Fusion Genomic Features

leaf

Fusion Protein Features

leaf

Fusion Gene Sequence

leaf

Fusion Gene PPI analysis

leaf

Related Drugs

leaf

Related Diseases

Fusion gene:MRPL19-APTX (FusionGDB2 ID:54931)

Fusion Gene Summary for MRPL19-APTX

check button Fusion gene summary
Fusion gene informationFusion gene name: MRPL19-APTX
Fusion gene ID: 54931
HgeneTgene
Gene symbol

MRPL19

APTX

Gene ID

9801

54840

Gene namemitochondrial ribosomal protein L19aprataxin
SynonymsL19mt|MRP-L15|MRP-L19|MRPL15|RLX1|RPML15AOA|AOA1|AXA1|EAOH|EOAHA|FHA-HIT
Cytomap

2p12

9p21.1

Type of geneprotein-codingprotein-coding
Description39S ribosomal protein L19, mitochondrial39S ribosomal protein L15, mitochondrialL15mtmitochondrial large ribosomal subunit protein bL19maprataxinforkhead-associated domain histidine triad-like protein
Modification date2020031320200320
UniProtAcc

P49406

Q7Z2E3

Ensembl transtripts involved in fusion geneENST00000393909, ENST00000358788, 
ENST00000409374, 		ENST00000309615, 
ENST00000379813, ENST00000379817, 
ENST00000379819, ENST00000379825, 
ENST00000397172, ENST00000436040, 
ENST00000463596, ENST00000468275, 
ENST00000473270, ENST00000476858, 
Fusion gene scores* DoF score3 X 3 X 2=183 X 5 X 2=30
# samples 33
** MAII scorelog2(3/18*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0		log2(3/30*10)=0
Context

PubMed: MRPL19 [Title/Abstract] AND APTX [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointMRPL19(75882804)-APTX(33004421), # 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
TgeneAPTX

GO:0000012

single strand break repair

17519253

TgeneAPTX

GO:0042542

response to hydrogen peroxide

15044383


check buttonFusion gene breakpoints across MRPL19 (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 APTX (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/AEC557969MRPL19chr2

75882804

+APTXchr9

33004421

+


Top

Fusion Gene ORF analysis for MRPL19-APTX

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
3UTR-intronENST00000393909ENST00000309615MRPL19chr2

75882804

+APTXchr9

33004421

+
3UTR-intronENST00000393909ENST00000379813MRPL19chr2

75882804

+APTXchr9

33004421

+
3UTR-intronENST00000393909ENST00000379817MRPL19chr2

75882804

+APTXchr9

33004421

+
3UTR-intronENST00000393909ENST00000379819MRPL19chr2

75882804

+APTXchr9

33004421

+
3UTR-intronENST00000393909ENST00000379825MRPL19chr2

75882804

+APTXchr9

33004421

+
3UTR-intronENST00000393909ENST00000397172MRPL19chr2

75882804

+APTXchr9

33004421

+
3UTR-intronENST00000393909ENST00000436040MRPL19chr2

75882804

+APTXchr9

33004421

+
3UTR-intronENST00000393909ENST00000463596MRPL19chr2

75882804

+APTXchr9

33004421

+
3UTR-intronENST00000393909ENST00000468275MRPL19chr2

75882804

+APTXchr9

33004421

+
3UTR-intronENST00000393909ENST00000473270MRPL19chr2

75882804

+APTXchr9

33004421

+
3UTR-intronENST00000393909ENST00000476858MRPL19chr2

75882804

+APTXchr9

33004421

+
intron-intronENST00000358788ENST00000309615MRPL19chr2

75882804

+APTXchr9

33004421

+
intron-intronENST00000358788ENST00000379813MRPL19chr2

75882804

+APTXchr9

33004421

+
intron-intronENST00000358788ENST00000379817MRPL19chr2

75882804

+APTXchr9

33004421

+
intron-intronENST00000358788ENST00000379819MRPL19chr2

75882804

+APTXchr9

33004421

+
intron-intronENST00000358788ENST00000379825MRPL19chr2

75882804

+APTXchr9

33004421

+
intron-intronENST00000358788ENST00000397172MRPL19chr2

75882804

+APTXchr9

33004421

+
intron-intronENST00000358788ENST00000436040MRPL19chr2

75882804

+APTXchr9

33004421

+
intron-intronENST00000358788ENST00000463596MRPL19chr2

75882804

+APTXchr9

33004421

+
intron-intronENST00000358788ENST00000468275MRPL19chr2

75882804

+APTXchr9

33004421

+
intron-intronENST00000358788ENST00000473270MRPL19chr2

75882804

+APTXchr9

33004421

+
intron-intronENST00000358788ENST00000476858MRPL19chr2

75882804

+APTXchr9

33004421

+
intron-intronENST00000409374ENST00000309615MRPL19chr2

75882804

+APTXchr9

33004421

+
intron-intronENST00000409374ENST00000379813MRPL19chr2

75882804

+APTXchr9

33004421

+
intron-intronENST00000409374ENST00000379817MRPL19chr2

75882804

+APTXchr9

33004421

+
intron-intronENST00000409374ENST00000379819MRPL19chr2

75882804

+APTXchr9

33004421

+
intron-intronENST00000409374ENST00000379825MRPL19chr2

75882804

+APTXchr9

33004421

+
intron-intronENST00000409374ENST00000397172MRPL19chr2

75882804

+APTXchr9

33004421

+
intron-intronENST00000409374ENST00000436040MRPL19chr2

75882804

+APTXchr9

33004421

+
intron-intronENST00000409374ENST00000463596MRPL19chr2

75882804

+APTXchr9

33004421

+
intron-intronENST00000409374ENST00000468275MRPL19chr2

75882804

+APTXchr9

33004421

+
intron-intronENST00000409374ENST00000473270MRPL19chr2

75882804

+APTXchr9

33004421

+
intron-intronENST00000409374ENST00000476858MRPL19chr2

75882804

+APTXchr9

33004421

+

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

Top

Fusion Genomic Features for MRPL19-APTX


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.

Top

Fusion Protein Features for MRPL19-APTX


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/:75882804/:33004421)
- 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
MRPL19

P49406

APTX

Q7Z2E3

FUNCTION: DNA-binding protein involved in single-strand DNA break repair, double-strand DNA break repair and base excision repair (PubMed:15380105, PubMed:15044383, PubMed:16964241, PubMed:17276982, PubMed:24362567). Resolves abortive DNA ligation intermediates formed either at base excision sites, or when DNA ligases attempt to repair non-ligatable breaks induced by reactive oxygen species (PubMed:16964241, PubMed:24362567). Catalyzes the release of adenylate groups covalently linked to 5'-phosphate termini, resulting in the production of 5'-phosphate termini that can be efficiently rejoined (PubMed:16964241, PubMed:17276982, PubMed:24362567). Also able to hydrolyze adenosine 5'-monophosphoramidate (AMP-NH(2)) and diadenosine tetraphosphate (AppppA), but with lower catalytic activity (PubMed:16547001). Likewise, catalyzes the release of 3'-linked guanosine (DNAppG) and inosine (DNAppI) from DNA, but has higher specific activity with 5'-linked adenosine (AppDNA) (By similarity). {ECO:0000250|UniProtKB:O74859, ECO:0000269|PubMed:15044383, ECO:0000269|PubMed:15380105, ECO:0000269|PubMed:16547001, ECO:0000269|PubMed:16964241, ECO:0000269|PubMed:17276982, ECO:0000269|PubMed:24362567}.

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


Top

Fusion Gene Sequence for MRPL19-APTX


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.

Top

Fusion Gene PPI Analysis for MRPL19-APTX


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


Top

Related Drugs for MRPL19-APTX


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

Top

Related Diseases for MRPL19-APTX


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