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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: 20646

FusionGeneSummary for MALAT1_NEDD4L

check button Fusion gene summary
Fusion gene informationFusion gene name: MALAT1_NEDD4L
Fusion gene ID: 20646
HgeneTgene
Gene symbol

MALAT1

NEDD4L

Gene ID

378938

23327

Gene namemetastasis associated lung adenocarcinoma transcript 1neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase
SynonymsHCN|LINC00047|NCRNA00047|NEAT2|PRO2853NEDD4-2|NEDD4.2|PVNH7|RSP5|hNEDD4-2
Cytomap

11q13.1

18q21.31

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)E3 ubiquitin-protein ligase NEDD4-likeHECT-type E3 ubiquitin transferase NED4Lubiquitin-protein ligase Rsp5
Modification date2018052720180523
UniProtAcc

Q96PU5

Ensembl transtripts involved in fusion geneENST00000534336, ENST00000356462, 
ENST00000400345, ENST00000589054, 
ENST00000256832, ENST00000382850, 
ENST00000256830, ENST00000588516, 
ENST00000456986, ENST00000435432, 
ENST00000357895, ENST00000586263, 
ENST00000456173, ENST00000431212, 
Fusion gene scores* DoF score83 X 128 X 5=5312013 X 14 X 6=1092
# samples 14116
** MAII scorelog2(141/53120*10)=-5.23548807894813
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(16/1092*10)=-2.77082904603249
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: MALAT1 [Title/Abstract] AND NEDD4L [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
TgeneNEDD4L

GO:0003254

regulation of membrane depolarization

15217910

TgeneNEDD4L

GO:0006511

ubiquitin-dependent protein catabolic process

21463633

TgeneNEDD4L

GO:0010038

response to metal ion

11244092

TgeneNEDD4L

GO:0016567

protein ubiquitination

15217910|25631046

TgeneNEDD4L

GO:0034765

regulation of ion transmembrane transport

17289006

TgeneNEDD4L

GO:0042391

regulation of membrane potential

17289006

TgeneNEDD4L

GO:0043161

proteasome-mediated ubiquitin-dependent protein catabolic process

21463633

TgeneNEDD4L

GO:0060306

regulation of membrane repolarization

21463633

TgeneNEDD4L

GO:0070936

protein K48-linked ubiquitination

21463633

TgeneNEDD4L

GO:1901016

regulation of potassium ion transmembrane transporter activity

17289006

TgeneNEDD4L

GO:1901017

negative regulation of potassium ion transmembrane transporter activity

21463633

TgeneNEDD4L

GO:1901380

negative regulation of potassium ion transmembrane transport

21463633

TgeneNEDD4L

GO:1902306

negative regulation of sodium ion transmembrane transport

15217910

TgeneNEDD4L

GO:1903861

positive regulation of dendrite extension

23999003

TgeneNEDD4L

GO:2000009

negative regulation of protein localization to cell surface

21463633

TgeneNEDD4L

GO:2000650

negative regulation of sodium ion transmembrane transporter activity

15217910


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
ChiTaRS3.1BX501711MALAT1chr11

65269639

+NEDD4Lchr18

56056539

+
* 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-intronENST00000534336ENST00000356462MALAT1chr11

65269639

+NEDD4Lchr18

56056539

+
3UTR-intronENST00000534336ENST00000400345MALAT1chr11

65269639

+NEDD4Lchr18

56056539

+
3UTR-intronENST00000534336ENST00000589054MALAT1chr11

65269639

+NEDD4Lchr18

56056539

+
3UTR-intronENST00000534336ENST00000256832MALAT1chr11

65269639

+NEDD4Lchr18

56056539

+
3UTR-intronENST00000534336ENST00000382850MALAT1chr11

65269639

+NEDD4Lchr18

56056539

+
3UTR-intronENST00000534336ENST00000256830MALAT1chr11

65269639

+NEDD4Lchr18

56056539

+
3UTR-intronENST00000534336ENST00000588516MALAT1chr11

65269639

+NEDD4Lchr18

56056539

+
3UTR-intronENST00000534336ENST00000456986MALAT1chr11

65269639

+NEDD4Lchr18

56056539

+
3UTR-intronENST00000534336ENST00000435432MALAT1chr11

65269639

+NEDD4Lchr18

56056539

+
3UTR-intronENST00000534336ENST00000357895MALAT1chr11

65269639

+NEDD4Lchr18

56056539

+
3UTR-intronENST00000534336ENST00000586263MALAT1chr11

65269639

+NEDD4Lchr18

56056539

+
3UTR-intronENST00000534336ENST00000456173MALAT1chr11

65269639

+NEDD4Lchr18

56056539

+
3UTR-intronENST00000534336ENST00000431212MALAT1chr11

65269639

+NEDD4Lchr18

56056539

+

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FusionProtFeatures for MALAT1_NEDD4L


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

NEDD4L

Q96PU5

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_NEDD4L


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_NEDD4L


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_NEDD4L


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_NEDD4L


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
TgeneNEDD4LC0020538Hypertensive disease2CTD_human
TgeneNEDD4LC0008925Cleft Palate1CTD_human
TgeneNEDD4LC0014175Endometriosis1CTD_human
TgeneNEDD4LC0039075Syndactyly1CTD_human
TgeneNEDD4LC1868720Periventricular Nodular Heterotopia1CTD_human;ORPHANET