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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:DCAF15-MRPL9 (FusionGDB2 ID:21489)

Fusion Gene Summary for DCAF15-MRPL9

check button Fusion gene summary
Fusion gene informationFusion gene name: DCAF15-MRPL9
Fusion gene ID: 21489
HgeneTgene
Gene symbol

DCAF15

MRPL9

Gene ID

90379

65005

Gene nameDDB1 and CUL4 associated factor 15mitochondrial ribosomal protein L9
SynonymsC19orf72L9mt
Cytomap

19p13.12

1q21.3

Type of geneprotein-codingprotein-coding
DescriptionDDB1- and CUL4-associated factor 1539S ribosomal protein L9, mitochondrialmitochondrial large ribosomal subunit protein bL9m
Modification date2020032720200313
UniProtAcc

Q66K64

Q9BYD2

Ensembl transtripts involved in fusion geneENST00000254337, ENST00000467306, 
ENST00000368829, ENST00000368830, 
Fusion gene scores* DoF score3 X 2 X 3=187 X 6 X 5=210
# samples 47
** MAII scorelog2(4/18*10)=1.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(7/210*10)=-1.58496250072116
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: DCAF15 [Title/Abstract] AND MRPL9 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointDCAF15(14065473)-MRPL9(151734028), # 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

check buttonFusion gene breakpoints across DCAF15 (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 MRPL9 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

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
ChimerDB4Non-CancerTCGA-IP-7968-11ADCAF15chr19

14065473

+MRPL9chr1

151734028

-


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Fusion Gene ORF analysis for DCAF15-MRPL9

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
5CDS-5UTRENST00000254337ENST00000467306DCAF15chr19

14065473

+MRPL9chr1

151734028

-
5CDS-intronENST00000254337ENST00000368829DCAF15chr19

14065473

+MRPL9chr1

151734028

-
In-frameENST00000254337ENST00000368830DCAF15chr19

14065473

+MRPL9chr1

151734028

-

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)
ENST00000254337DCAF15chr1914065473+ENST00000368830MRPL9chr1151734028-111238721704227

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
ENST00000254337ENST00000368830DCAF15chr1914065473+MRPL9chr1151734028-0.061711990.938288

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Fusion Genomic Features for DCAF15-MRPL9


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.
genomic feature

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 DCAF15-MRPL9


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/chr19:14065473/chr1:151734028)
- 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
DCAF15

Q66K64

MRPL9

Q9BYD2

FUNCTION: Substrate-recognition component of the DCX(DCAF15) complex, a cullin-4-RING E3 ubiquitin-protein ligase complex that mediates ubiquitination and degradation of target proteins (PubMed:16949367, PubMed:31452512). The DCX(DCAF15) complex acts as a regulator of the natural killer (NK) cells effector functions, possibly by mediating ubiquitination and degradation of cohesin subunits SMC1A and SMC3 (PubMed:31452512). May play a role in the activation of antigen-presenting cells (APC) and their interaction with NK cells (PubMed:31452512). {ECO:0000269|PubMed:16949367, ECO:0000269|PubMed:31452512}.; FUNCTION: Binding of aryl sulfonamide anticancer drugs, such as indisulam (E7070) or E7820, change the substrate specificity of the DCX(DCAF15) complex, leading to promote ubiquitination and degradation of splicing factor RBM39 (PubMed:28437394, PubMed:28302793, PubMed:31693891, PubMed:31452512). RBM39 degradation results in splicing defects and death in cancer cell lines (PubMed:28437394, PubMed:28302793, PubMed:31693891). Aryl sulfonamide anticancer drugs change the substrate specificity of DCAF15 by acting as a molecular glue that promotes binding between DCAF15 and weak affinity interactor RBM39 (PubMed:31686031, PubMed:31819272). Aryl sulfonamide anticancer drugs also promote ubiquitination and degradation of RBM23 and PRPF39 (PubMed:31693891, PubMed:31626998, PubMed:31686031). {ECO:0000269|PubMed:28302793, ECO:0000269|PubMed:28437394, ECO:0000269|PubMed:31452512, ECO:0000269|PubMed:31626998, ECO:0000269|PubMed:31686031, ECO:0000269|PubMed:31693891, ECO:0000269|PubMed:31819272}.

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
HgeneDCAF15chr19:14065473chr1:151734028ENST00000254337+313234_235122601.0RegionAryl sulfonamide binding


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Fusion Gene Sequence for DCAF15-MRPL9


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.
>21489_21489_1_DCAF15-MRPL9_DCAF15_chr19_14065473_ENST00000254337_MRPL9_chr1_151734028_ENST00000368830_length(transcript)=1112nt_BP=387nt
AAGTGGAGGGAGGGGGTGAAAATGGCGCCCAGCTCGAAATCGGAGCGGAACAGCGGGGCTGGGAGCGGCGGCGGCGGCCCCGGGGGAGCC
GGAGGGAAGCGGGCAGCAGGGCGGCGGCGGGAGCACGTCCTCAAGCAGCTGGAGCGGGTCAAGATCAGCGGACAGCTCTCCCCTCGCCTC
TTCCGGAAGCTGCCTCCCCGGGTGTGCGTGTCCCTCAAGAACATTGTGGATGAGGACTTCCTCTATGCAGGACATATCTTCCTGGGCTTT
TCCAAATGCGGCCGCTACGTCCTCTCCTACACCAGCAGCAGTGGGGATGACGACTTCTCCTTCTACATCTACCATCTGTACTGGTGGGAG
TTCAACGTTCACAGCAAGCTCAAGCTGACAGTGAAATTTCTAAAAAGCTGTCGCCTGGAGGTAGGGATGAAGAACAATGTCAAATGGGAG
CTGAACCCTGAAATAGTTGCCCGCCACTTCTTTAAGAATCTTGGTGTTGTGGTTGCCCCACATACATTAAAGTTACCAGAAGAGCCTATC
ACACGGTGGGGCGAGTATTGGTGTGAGGTGACGGTAAATGGGCTTGATACTGTGAGAGTGCCTATGTCTGTCGTGAACTTTGAGAAGCCC
AAGACCAAAAGATATAAGTACTGGTTAGCCCAGCAAGCTGCCAAGGCTATGGCCCCCACCAGCCCCCAGATCTAAATCTACTCTCCCTCC
AAGGCAGCAAAGCAGAATCGGGAGCAGTGGAGCAGAAATGTGCAAGCACCCTGATCTCACTCCCAGCTCTGACCAAATACAGAATTTTAG
AGAACATCTGAAGACATCAGACTGCACTGCGTATACATGTTGAATTCTTCATTTTTGCCATCTTTAACTGTCATCACTGGGGCAGGGAAG
TCCTGTTCCAGAAGTACCAGGCTGTAGATTTGATAAGCTAGATGCAGTAGACCGAAACCATCCAAAACCTGTTTAGCTTCTTCCTCCATT
GGAGTTTATTGGGACAAACAGGAGAGCCAGCCATTGTCTCCAGTACTTGCCTCATTCTCATCATCCAAACTGAACATTTGTATCCCAAGC

>21489_21489_1_DCAF15-MRPL9_DCAF15_chr19_14065473_ENST00000254337_MRPL9_chr1_151734028_ENST00000368830_length(amino acids)=227AA_BP=122
MAPSSKSERNSGAGSGGGGPGGAGGKRAAGRRREHVLKQLERVKISGQLSPRLFRKLPPRVCVSLKNIVDEDFLYAGHIFLGFSKCGRYV
LSYTSSSGDDDFSFYIYHLYWWEFNVHSKLKLTVKFLKSCRLEVGMKNNVKWELNPEIVARHFFKNLGVVVAPHTLKLPEEPITRWGEYW

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

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Fusion Gene PPI Analysis for DCAF15-MRPL9


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 DCAF15-MRPL9


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 DCAF15-MRPL9


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