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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 22544

FusionGeneSummary for MRPS18C_DDX21

check button Fusion gene summary
Fusion gene informationFusion gene name: MRPS18C_DDX21
Fusion gene ID: 22544
HgeneTgene
Gene symbol

MRPS18C

DDX21

Gene ID

51023

54606

Gene namemitochondrial ribosomal protein S18CDEAD-box helicase 56
SynonymsCGI-134|MRP-S18-1|MRP-S18-c|MRPS18-1|S18mt-c|mrps18-cDDX21|DDX26|NOH61
Cytomap

4q21.23

7p13

Type of geneprotein-codingprotein-coding
Description28S ribosomal protein S18c, mitochondrial28S ribosomal protein S18-1, mitochondrialmitochondrial ribosomal protein S18-1mitochondrial small ribosomal subunit protein bS18cmitochondrial small ribosomal subunit protein bS18mmitochondrial small ribosomaprobable ATP-dependent RNA helicase DDX5661-kd nucleolar helicaseATP-dependent 61 kDa nucleolar RNA helicaseDEAD (Asp-Glu-Ala-Asp) box helicase 56DEAD (Asp-Glu-Ala-Asp) box polypeptide 56DEAD box protein 21DEAD box protein 56DEAD-box RNA helicasen
Modification date2018052320180522
UniProtAcc

Q9Y3D5

Q9NR30

Ensembl transtripts involved in fusion geneENST00000295491, ENST00000507019, 
ENST00000507349, ENST00000509571, 
ENST00000354185, 
Fusion gene scores* DoF score3 X 3 X 2=1833 X 8 X 14=3696
# samples 437
** MAII scorelog2(4/18*10)=1.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(37/3696*10)=-3.32036758089975
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: MRPS18C [Title/Abstract] AND DDX21 [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotation
* 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 button Fusion gene information from three resources
(ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018))
* 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.
Data typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChiTaRS3.1BQ776304MRPS18Cchr4

84382173

-DDX21chr10

70719718

+
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

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
Frame-shiftENST00000295491ENST00000354185MRPS18Cchr4

84382173

-DDX21chr10

70719718

+
Frame-shiftENST00000507019ENST00000354185MRPS18Cchr4

84382173

-DDX21chr10

70719718

+
In-frameENST00000507349ENST00000354185MRPS18Cchr4

84382173

-DDX21chr10

70719718

+
intron-3CDSENST00000509571ENST00000354185MRPS18Cchr4

84382173

-DDX21chr10

70719718

+

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FusionProtFeatures for MRPS18C_DDX21


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
MRPS18C

Q9Y3D5

DDX21

Q9NR30

RNA helicase that acts as a sensor of thetranscriptional status of both RNA polymerase (Pol) I and II:promotes ribosomal RNA (rRNA) processing and transcription frompolymerase II (Pol II) (PubMed:25470060). Binds various RNAs, suchas rRNAs, snoRNAs, 7SK and, at lower extent, mRNAs(PubMed:25470060). In the nucleolus, localizes to rDNA locus,where it directly binds rRNAs and snoRNAs, and promotes rRNAtranscription, processing and modification. Required for rRNA 2'-O-methylation, possibly by promoting the recruitment of late-acting snoRNAs SNORD56 and SNORD58 with pre-ribosomal complexes(PubMed:25470060, PubMed:25477391). In the nucleoplasm, binds 7SKRNA and is recruited to the promoters of Pol II-transcribed genes:acts by facilitating the release of P-TEFb from inhibitory 7SKsnRNP in a manner that is dependent on its helicase activity,thereby promoting transcription of its target genes(PubMed:25470060). Functions as cofactor for JUN-activatedtranscription: required for phosphorylation of JUN at 'Ser-77'(PubMed:11823437, PubMed:25260534). Can unwind double-stranded RNA(helicase) and can fold or introduce a secondary structure to asingle-stranded RNA (foldase) (PubMed:9461305). Involved in rRNAprocessing (PubMed:14559904, PubMed:18180292). May bind tospecific miRNA hairpins (PubMed:28431233).{ECO:0000269|PubMed:11823437, ECO:0000269|PubMed:14559904,ECO:0000269|PubMed:18180292, ECO:0000269|PubMed:25260534,ECO:0000269|PubMed:25470060, ECO:0000269|PubMed:25477391,ECO:0000269|PubMed:28431233, ECO:0000269|PubMed:9461305}.

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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FusionGeneSequence for MRPS18C_DDX21


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences.
(nt: nucleotides, aa: amino acids)

* Fusion amino acid sequences.
>In-frame_MRPS18C_ENST00000507349_chr4_84382173_-_DDX21_ENST00000354185_chr10_70719718_+_0aa


* Fusion transcript sequences (only coding sequence (CDS) region).
>In-frame_MRPS18C_ENST00000507349_chr4_84382173_-_DDX21_ENST00000354185_chr10_70719718_+_0nt


* Fusion transcript sequences (Full-length transcript).
>In-frame_MRPS18C_ENST00000507349_chr4_84382173_-_DDX21_ENST00000354185_chr10_70719718_+_0nt


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FusionGenePPI for MRPS18C_DDX21


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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RelatedDrugs for MRPS18C_DDX21


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for MRPS18C_DDX21


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