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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: 20658

FusionGeneSummary for MALAT1_RC3H2

check button Fusion gene summary
Fusion gene informationFusion gene name: MALAT1_RC3H2
Fusion gene ID: 20658
HgeneTgene
Gene symbol

MALAT1

RC3H2

Gene ID

378938

54542

Gene namemetastasis associated lung adenocarcinoma transcript 1ring finger and CCCH-type domains 2
SynonymsHCN|LINC00047|NCRNA00047|NEAT2|PRO2853MNAB|RNF164
Cytomap

11q13.1

9q33.2

Type of genencRNAprotein-coding
Descriptionhepcarcinlong intergenic non-protein coding RNA 47metastasis associated lung adenocarcinoma transcript 1 (non-protein coding)nuclear enriched abundant transcript 2nuclear paraspeckle assembly transcript 2 (non-protein coding)roquin-2RING finger protein 164RING-type E3 ubiquitin transferase Roquin-2membrane associated DNA binding proteinmembrane-associated nucleic acid-binding proteinring finger and CCCH-type zinc finger domain-containing protein 2ring finger and CCCH-ty
Modification date2018052720180522
UniProtAcc

Q9HBD1

Ensembl transtripts involved in fusion geneENST00000534336, ENST00000373670, 
ENST00000357244, ENST00000423239, 
ENST00000373665, ENST00000335387, 
ENST00000478216, ENST00000471874, 
Fusion gene scores* DoF score83 X 128 X 5=531203 X 3 X 3=27
# samples 1413
** MAII scorelog2(141/53120*10)=-5.23548807894813
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(3/27*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: MALAT1 [Title/Abstract] AND RC3H2 [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
TgeneRC3H2

GO:0000209

protein polyubiquitination

26489670


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
ChiTaRS3.1CB985943MALAT1chr11

65270085

+RC3H2chr9

125607058

-
* 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
3UTR-3UTRENST00000534336ENST00000373670MALAT1chr11

65270085

+RC3H2chr9

125607058

-
3UTR-intronENST00000534336ENST00000357244MALAT1chr11

65270085

+RC3H2chr9

125607058

-
3UTR-intronENST00000534336ENST00000423239MALAT1chr11

65270085

+RC3H2chr9

125607058

-
3UTR-intronENST00000534336ENST00000373665MALAT1chr11

65270085

+RC3H2chr9

125607058

-
3UTR-intronENST00000534336ENST00000335387MALAT1chr11

65270085

+RC3H2chr9

125607058

-
3UTR-intronENST00000534336ENST00000478216MALAT1chr11

65270085

+RC3H2chr9

125607058

-
3UTR-intronENST00000534336ENST00000471874MALAT1chr11

65270085

+RC3H2chr9

125607058

-

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FusionProtFeatures for MALAT1_RC3H2


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
MALAT1

RC3H2

Q9HBD1

Lectin that binds to various sugars: galactose > mannose= fucose > N-acetylglucosamine > N-acetylgalactosamine(PubMed:10224141). Acts as a chemoattractant, probably involved inthe regulation of cell migration (PubMed:28301481).{ECO:0000269|PubMed:10224141, ECO:0000269|PubMed:28301481}.

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 MALAT1_RC3H2


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 MALAT1_RC3H2


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 MALAT1_RC3H2


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 MALAT1_RC3H2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneMALAT1C0023893Liver Cirrhosis, Experimental1CTD_human
HgeneMALAT1C0023903Liver neoplasms1CTD_human
HgeneMALAT1C0027626Neoplasm Invasiveness1CTD_human
HgeneMALAT1C0027627Neoplasm Metastasis1CTD_human
HgeneMALAT1C0032460Polycystic Ovary Syndrome1CTD_human
HgeneMALAT1C0236663Alcohol withdrawal syndrome1PSYGENET
HgeneMALAT1C0279626Squamous cell carcinoma of esophagus1CTD_human