FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact
Center for Computational Systems Medicine
leaf

FusionGeneSummary

leaf

FusionProtFeature

leaf

FusionGeneSequence

leaf

FusionGenePPI

leaf

RelatedDrugs

leaf

RelatedDiseases

Fusion gene ID: 20617

FusionGeneSummary for MALAT1_ESR1

check button Fusion gene summary
Fusion gene informationFusion gene name: MALAT1_ESR1
Fusion gene ID: 20617
HgeneTgene
Gene symbol

MALAT1

ESR1

Gene ID

378938

2099

Gene namemetastasis associated lung adenocarcinoma transcript 1estrogen receptor 1
SynonymsHCN|LINC00047|NCRNA00047|NEAT2|PRO2853ER|ESR|ESRA|ESTRR|Era|NR3A1
Cytomap

11q13.1

6q25.1-q25.2

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)estrogen receptorE2 receptor alphaER-alphaestradiol receptorestrogen nuclear receptor alphaestrogen receptor alpha E1-E2-1-2estrogen receptor alpha E1-N2-E2-1-2nuclear receptor subfamily 3 group A member 1oestrogen receptor alpha
Modification date2018052720180527
UniProtAcc

P03372

Ensembl transtripts involved in fusion geneENST00000534336, ENST00000440973, 
ENST00000338799, ENST00000456483, 
ENST00000443427, ENST00000206249, 
ENST00000406599, ENST00000427531, 
ENST00000482101, 
Fusion gene scores* DoF score83 X 128 X 5=531207 X 5 X 5=175
# samples 1418
** MAII scorelog2(141/53120*10)=-5.23548807894813
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(8/175*10)=-1.12928301694497
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: MALAT1 [Title/Abstract] AND ESR1 [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
TgeneESR1

GO:0006366

transcription by RNA polymerase II

15831516

TgeneESR1

GO:0010629

negative regulation of gene expression

21695196

TgeneESR1

GO:0030520

intracellular estrogen receptor signaling pathway

9841876

TgeneESR1

GO:0032355

response to estradiol

15304487

TgeneESR1

GO:0043124

negative regulation of I-kappaB kinase/NF-kappaB signaling

7651415|16043358

TgeneESR1

GO:0043433

negative regulation of DNA binding transcription factor activity

10816575

TgeneESR1

GO:0043627

response to estrogen

11581164

TgeneESR1

GO:0045893

positive regulation of transcription, DNA-templated

9841876|20074560

TgeneESR1

GO:0045899

positive regulation of RNA polymerase II transcriptional preinitiation complex assembly

9841876

TgeneESR1

GO:0045944

positive regulation of transcription by RNA polymerase II

11544182|12047722|15345745|15831516|18563714

TgeneESR1

GO:0051091

positive regulation of DNA binding transcription factor activity

9328340|10681512

TgeneESR1

GO:0071392

cellular response to estradiol stimulus

15831516


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
ChiTaRS3.1AI908660MALAT1chr11

65268104

-ESR1chr6

152151630

+
* 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-intronENST00000534336ENST00000440973MALAT1chr11

65268104

-ESR1chr6

152151630

+
3UTR-intronENST00000534336ENST00000338799MALAT1chr11

65268104

-ESR1chr6

152151630

+
3UTR-intronENST00000534336ENST00000456483MALAT1chr11

65268104

-ESR1chr6

152151630

+
3UTR-intronENST00000534336ENST00000443427MALAT1chr11

65268104

-ESR1chr6

152151630

+
3UTR-intronENST00000534336ENST00000206249MALAT1chr11

65268104

-ESR1chr6

152151630

+
3UTR-intronENST00000534336ENST00000406599MALAT1chr11

65268104

-ESR1chr6

152151630

+
3UTR-intronENST00000534336ENST00000427531MALAT1chr11

65268104

-ESR1chr6

152151630

+
3UTR-intronENST00000534336ENST00000482101MALAT1chr11

65268104

-ESR1chr6

152151630

+

Top

FusionProtFeatures for MALAT1_ESR1


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

ESR1

P03372

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}. Nuclear hormone receptor. The steroid hormones and theirreceptors are involved in the regulation of eukaryotic geneexpression and affect cellular proliferation and differentiationin target tissues. Ligand-dependent nuclear transactivationinvolves either direct homodimer binding to a palindromic estrogenresponse element (ERE) sequence or association with other DNA-binding transcription factors, such as AP-1/c-Jun, c-Fos, ATF-2,Sp1 and Sp3, to mediate ERE-independent signaling. Ligand bindinginduces a conformational change allowing subsequent orcombinatorial association with multiprotein coactivator complexesthrough LXXLL motifs of their respective components. Mutualtransrepression occurs between the estrogen receptor (ER) and NF-kappa-B in a cell-type specific manner. Decreases NF-kappa-B DNA-binding activity and inhibits NF-kappa-B-mediated transcriptionfrom the IL6 promoter and displace RELA/p65 and associatedcoregulators from the promoter. Recruited to the NF-kappa-Bresponse element of the CCL2 and IL8 promoters and can displaceCREBBP. Present with NF-kappa-B components RELA/p65 and NFKB1/p50on ERE sequences. Can also act synergistically with NF-kappa-B toactivate transcription involving respective recruitment adjacentresponse elements; the function involves CREBBP. Can activate thetranscriptional activity of TFF1. Also mediates membrane-initiatedestrogen signaling involving various kinase cascades. Isoform 3 isinvolved in activation of NOS3 and endothelial nitric oxideproduction. Isoforms lacking one or several functional domains arethought to modulate transcriptional activity by competitive ligandor DNA binding and/or heterodimerization with the full-lengthreceptor. Essential for MTA1-mediated transcriptional regulationof BRCA1 and BCAS3. Isoform 3 can bind to ERE and inhibit isoform1. {ECO:0000269|PubMed:10681512, ECO:0000269|PubMed:10816575,ECO:0000269|PubMed:11477071, ECO:0000269|PubMed:11682626,ECO:0000269|PubMed:14764652, ECO:0000269|PubMed:15078875,ECO:0000269|PubMed:15891768, ECO:0000269|PubMed:16043358,ECO:0000269|PubMed:16617102, ECO:0000269|PubMed:16684779,ECO:0000269|PubMed:17922032, ECO:0000269|PubMed:17932106,ECO:0000269|PubMed:18247370, ECO:0000269|PubMed:19350539,ECO:0000269|PubMed:20074560, ECO:0000269|PubMed:20705611,ECO:0000269|PubMed:21330404, ECO:0000269|PubMed:22083956,ECO:0000269|PubMed:7651415, ECO:0000269|PubMed:9328340}.

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


Top

FusionGeneSequence for MALAT1_ESR1


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).

Top

FusionGenePPI for MALAT1_ESR1


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


Top

RelatedDrugs for MALAT1_ESR1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneESR1P03372DB00286Conjugated estrogensEstrogen receptorsmall moleculeapproved
TgeneESR1P03372DB00304DesogestrelEstrogen receptorsmall moleculeapproved
TgeneESR1P03372DB00648MitotaneEstrogen receptorsmall moleculeapproved
TgeneESR1P03372DB00655EstroneEstrogen receptorsmall moleculeapproved
TgeneESR1P03372DB00675TamoxifenEstrogen receptorsmall moleculeapproved
TgeneESR1P03372DB00841DobutamineEstrogen receptorsmall moleculeapproved
TgeneESR1P03372DB00977Ethinyl EstradiolEstrogen receptorsmall moleculeapproved
TgeneESR1P03372DB01406DanazolEstrogen receptorsmall moleculeapproved
TgeneESR1P03372DB01431AllylestrenolEstrogen receptorsmall moleculeapproved
TgeneESR1P03372DB06710MethyltestosteroneEstrogen receptorsmall moleculeapproved
TgeneESR1P03372DB09369Polyestradiol phosphateEstrogen receptorsmall moleculeapproved
TgeneESR1P03372DB09371NorethynodrelEstrogen receptorsmall moleculeapproved
TgeneESR1P03372DB11071Phenyl salicylateEstrogen receptorsmall moleculeapproved
TgeneESR1P03372DB11619GestrinoneEstrogen receptorsmall moleculeapproved
TgeneESR1P03372DB01185FluoxymesteroneEstrogen receptorsmall moleculeapproved|illicit
TgeneESR1P03372DB00255DiethylstilbestrolEstrogen receptorsmall moleculeapproved|investigational
TgeneESR1P03372DB00294EtonogestrelEstrogen receptorsmall moleculeapproved|investigational
TgeneESR1P03372DB00367LevonorgestrelEstrogen receptorsmall moleculeapproved|investigational
TgeneESR1P03372DB00481RaloxifeneEstrogen receptorsmall moleculeapproved|investigational
TgeneESR1P03372DB00539ToremifeneEstrogen receptorsmall moleculeapproved|investigational
TgeneESR1P03372DB00603Medroxyprogesterone acetateEstrogen receptorsmall moleculeapproved|investigational
TgeneESR1P03372DB00624TestosteroneEstrogen receptorsmall moleculeapproved|investigational
TgeneESR1P03372DB00882ClomifeneEstrogen receptorsmall moleculeapproved|investigational
TgeneESR1P03372DB00890DienestrolEstrogen receptorsmall moleculeapproved|investigational
TgeneESR1P03372DB00947FulvestrantEstrogen receptorsmall moleculeapproved|investigational
TgeneESR1P03372DB00957NorgestimateEstrogen receptorsmall moleculeapproved|investigational
TgeneESR1P03372DB01196EstramustineEstrogen receptorsmall moleculeapproved|investigational
TgeneESR1P03372DB01593ZincEstrogen receptorsmall moleculeapproved|investigational
TgeneESR1P03372DB04930PermethrinEstrogen receptorsmall moleculeapproved|investigational
TgeneESR1P03372DB04938OspemifeneEstrogen receptorsmall moleculeapproved|investigational
TgeneESR1P03372DB06202LasofoxifeneEstrogen receptorsmall moleculeapproved|investigational
TgeneESR1P03372DB06401BazedoxifeneEstrogen receptorsmall moleculeapproved|investigational
TgeneESR1P03372DB09070TiboloneEstrogen receptorsmall moleculeapproved|investigational
TgeneESR1P03372DB01708PrasteroneEstrogen receptorsmall moleculeapproved|investigational|nutraceutical
TgeneESR1P03372DB00783EstradiolEstrogen receptorsmall moleculeapproved|investigational|vet_approved
TgeneESR1P03372DB04573EstriolEstrogen receptorsmall moleculeapproved|investigational|vet_approved
TgeneESR1P03372DB01108TrilostaneEstrogen receptorsmall moleculeapproved|investigational|vet_approved|withdrawn
TgeneESR1P03372DB01065MelatoninEstrogen receptorsmall moleculeapproved|nutraceutical|vet_approved
TgeneESR1P03372DB00396ProgesteroneEstrogen receptorsmall moleculeapproved|vet_approved
TgeneESR1P03372DB01183NaloxoneEstrogen receptorsmall moleculeapproved|vet_approved
TgeneESR1P03372DB00431LindaneEstrogen receptorsmall moleculeapproved|withdrawn
TgeneESR1P03372DB00756HexachloropheneEstrogen receptorsmall moleculeapproved|withdrawn
TgeneESR1P03372DB04824PhenolphthaleinEstrogen receptorsmall moleculeapproved|withdrawn

Top

RelatedDiseases for MALAT1_ESR1


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
TgeneESR1C1458155Mammary Neoplasms11CTD_human
TgeneESR1C0005586Bipolar Disorder5PSYGENET
TgeneESR1C0011570Mental Depression5PSYGENET
TgeneESR1C0011581Depressive disorder5PSYGENET
TgeneESR1C0036341Schizophrenia5PSYGENET
TgeneESR1C0525045Mood Disorders4PSYGENET
TgeneESR1C0001418Adenocarcinoma2CTD_human
TgeneESR1C0021364Male infertility2CTD_human
TgeneESR1C0024121Lung Neoplasms2CTD_human
TgeneESR1C0024667Animal Mammary Neoplasms2CTD_human
TgeneESR1C0025500Mesothelioma2CTD_human
TgeneESR1C0033578Prostatic Neoplasms2CTD_human
TgeneESR1C1956346Coronary Artery Disease2CTD_human
TgeneESR1C3809250ESTROGEN RESISTANCE2ORPHANET;UNIPROT
TgeneESR1C0002395Alzheimer's Disease1CTD_human
TgeneESR1C0004114Astrocytoma1CTD_human
TgeneESR1C0004153Atherosclerosis1CTD_human
TgeneESR1C0005695Bladder Neoplasm1CTD_human
TgeneESR1C0005944Metabolic Bone Disorder1CTD_human
TgeneESR1C0007621Neoplastic Cell Transformation1CTD_human
TgeneESR1C0014170Endometrial Neoplasms1CTD_human
TgeneESR1C0015799Feminization1CTD_human
TgeneESR1C0017658Glomerulonephritis1CTD_human
TgeneESR1C0021361Female infertility1CTD_human
TgeneESR1C0023267Fibroid Tumor1CTD_human
TgeneESR1C0023418leukemia1CTD_human
TgeneESR1C0023903Liver neoplasms1CTD_human
TgeneESR1C0024668Mammary Neoplasms, Experimental1CTD_human
TgeneESR1C0024809Marijuana Abuse1PSYGENET
TgeneESR1C0026858Musculoskeletal Pain1CTD_human
TgeneESR1C0027051Myocardial Infarction1CTD_human
TgeneESR1C0027627Neoplasm Metastasis1CTD_human
TgeneESR1C0027643Neoplasm Recurrence, Local1CTD_human
TgeneESR1C0028754Obesity1CTD_human
TgeneESR1C0028960Oligospermia1CTD_human
TgeneESR1C0033941Psychoses, Substance-Induced1CTD_human
TgeneESR1C0036939Shared Paranoid Disorder1PSYGENET
TgeneESR1C0149931Migraine Disorders1CTD_human
TgeneESR1C0282612Prostatic Intraepithelial Neoplasias1CTD_human
TgeneESR1C1720887Female Urogenital Diseases1CTD_human
TgeneESR1C2239176Liver carcinoma1CTD_human