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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: 22232

FusionGeneSummary for MMS19_DHX57

check button Fusion gene summary
Fusion gene informationFusion gene name: MMS19_DHX57
Fusion gene ID: 22232
HgeneTgene
Gene symbol

MMS19

DHX57

Gene ID

64210

90957

Gene nameMMS19 homolog, cytosolic iron-sulfur assembly componentDExH-box helicase 57
SynonymsCIAO4|MET18|MMS19L|hMMS19DDX57
Cytomap

10q24.1

2p22.1

Type of geneprotein-codingprotein-coding
DescriptionMMS19 nucleotide excision repair protein homologMET18 homologMMS19 cytosolic iron-sulfur assembly componentMMS19 nucleotide excision repair homologMMS19-like (MET18 homolog, S. cerevisiae)MMS19-like proteinhomolog of yeast MMS19putative ATP-dependent RNA helicase DHX57DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57DEAH box protein 57DEAH-box RNA/DNA helicase AAM73547DEAH-box helicase 57
Modification date2018052220180523
UniProtAcc

Q96T76

Q6P158

Ensembl transtripts involved in fusion geneENST00000438925, ENST00000370782, 
ENST00000327238, ENST00000327277, 
ENST00000355839, ENST00000483626, 
ENST00000295373, ENST00000479345, 
Fusion gene scores* DoF score4 X 3 X 4=484 X 4 X 3=48
# samples 44
** MAII scorelog2(4/48*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(4/48*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: MMS19 [Title/Abstract] AND DHX57 [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
HgeneMMS19

GO:0097428

protein maturation by iron-sulfur cluster transfer

29225034

HgeneMMS19

GO:1905168

positive regulation of double-strand break repair via homologous recombination

29225034


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
ChiTaRS3.1BF844351MMS19chr10

99227426

-DHX57chr2

39079294

-
* 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
intron-intronENST00000438925ENST00000295373MMS19chr10

99227426

-DHX57chr2

39079294

-
intron-intronENST00000438925ENST00000479345MMS19chr10

99227426

-DHX57chr2

39079294

-
intron-intronENST00000370782ENST00000295373MMS19chr10

99227426

-DHX57chr2

39079294

-
intron-intronENST00000370782ENST00000479345MMS19chr10

99227426

-DHX57chr2

39079294

-
intron-intronENST00000327238ENST00000295373MMS19chr10

99227426

-DHX57chr2

39079294

-
intron-intronENST00000327238ENST00000479345MMS19chr10

99227426

-DHX57chr2

39079294

-
intron-intronENST00000327277ENST00000295373MMS19chr10

99227426

-DHX57chr2

39079294

-
intron-intronENST00000327277ENST00000479345MMS19chr10

99227426

-DHX57chr2

39079294

-
intron-intronENST00000355839ENST00000295373MMS19chr10

99227426

-DHX57chr2

39079294

-
intron-intronENST00000355839ENST00000479345MMS19chr10

99227426

-DHX57chr2

39079294

-
intron-intronENST00000483626ENST00000295373MMS19chr10

99227426

-DHX57chr2

39079294

-
intron-intronENST00000483626ENST00000479345MMS19chr10

99227426

-DHX57chr2

39079294

-

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FusionProtFeatures for MMS19_DHX57


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
MMS19

Q96T76

DHX57

Q6P158

Probable ATP-binding RNA helicase.

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 MMS19_DHX57


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.

* Fusion transcript sequences (only coding sequence (CDS) region).

* Fusion transcript sequences (Full-length transcript).

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FusionGenePPI for MMS19_DHX57


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 MMS19_DHX57


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 MMS19_DHX57


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