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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: 2264

FusionGeneSummary for APP_MALAT1

check button Fusion gene summary
Fusion gene informationFusion gene name: APP_MALAT1
Fusion gene ID: 2264
HgeneTgene
Gene symbol

APP

MALAT1

Gene ID

351

378938

Gene nameamyloid beta precursor proteinmetastasis associated lung adenocarcinoma transcript 1
SynonymsAAA|ABETA|ABPP|AD1|APPI|CTFgamma|CVAP|PN-II|PN2|preA4HCN|LINC00047|NCRNA00047|NEAT2|PRO2853
Cytomap

21q21.3

11q13.1

Type of geneprotein-codingncRNA
Descriptionamyloid-beta A4 proteinalzheimer disease amyloid proteinamyloid beta (A4) precursor proteinamyloid beta A4 proteinamyloid precursor proteinbeta-amyloid peptidebeta-amyloid peptide(1-40)beta-amyloid peptide(1-42)beta-amyloid precursor proteincerebhepcarcinlong 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)
Modification date2018052720180527
UniProtAcc

P05067

Ensembl transtripts involved in fusion geneENST00000346798, ENST00000354192, 
ENST00000348990, ENST00000357903, 
ENST00000358918, ENST00000359726, 
ENST00000448388, ENST00000440126, 
ENST00000439274, ENST00000474136, 
ENST00000534336, 
Fusion gene scores* DoF score15 X 15 X 9=202571 X 110 X 1=7810
# samples 19126
** MAII scorelog2(19/2025*10)=-3.4138505843284
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(126/7810*10)=-2.63189881464206
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: APP [Title/Abstract] AND MALAT1 [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
HgeneAPP

GO:0001934

positive regulation of protein phosphorylation

11404397

HgeneAPP

GO:0008285

negative regulation of cell proliferation

22944668


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
ChiTaRS3.1BP198916APPchr21

27253345

-MALAT1chr11

65266515

+
* 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-3UTRENST00000346798ENST00000534336APPchr21

27253345

-MALAT1chr11

65266515

+
intron-3UTRENST00000354192ENST00000534336APPchr21

27253345

-MALAT1chr11

65266515

+
intron-3UTRENST00000348990ENST00000534336APPchr21

27253345

-MALAT1chr11

65266515

+
intron-3UTRENST00000357903ENST00000534336APPchr21

27253345

-MALAT1chr11

65266515

+
intron-3UTRENST00000358918ENST00000534336APPchr21

27253345

-MALAT1chr11

65266515

+
intron-3UTRENST00000359726ENST00000534336APPchr21

27253345

-MALAT1chr11

65266515

+
intron-3UTRENST00000448388ENST00000534336APPchr21

27253345

-MALAT1chr11

65266515

+
intron-3UTRENST00000440126ENST00000534336APPchr21

27253345

-MALAT1chr11

65266515

+
intron-3UTRENST00000439274ENST00000534336APPchr21

27253345

-MALAT1chr11

65266515

+
intron-3UTRENST00000474136ENST00000534336APPchr21

27253345

-MALAT1chr11

65266515

+

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FusionProtFeatures for APP_MALAT1


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

P05067

MALAT1

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 APP_MALAT1


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 APP_MALAT1


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 APP_MALAT1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneAPPP05067DB06782DimercaprolAmyloid-beta A4 proteinsmall moleculeapproved
HgeneAPPP05067DB09148Florbetaben (18F)Amyloid-beta A4 proteinsmall moleculeapproved
HgeneAPPP05067DB00746DeferoxamineAmyloid-beta A4 proteinsmall moleculeapproved|investigational
HgeneAPPP05067DB01370AluminiumAmyloid-beta A4 proteinsmall moleculeapproved|investigational
HgeneAPPP05067DB01593ZincAmyloid-beta A4 proteinsmall moleculeapproved|investigational
HgeneAPPP05067DB09149Florbetapir (18F)Amyloid-beta A4 proteinsmall moleculeapproved|investigational
HgeneAPPP05067DB09151Flutemetamol (18F)Amyloid-beta A4 proteinsmall moleculeapproved|investigational

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RelatedDiseases for APP_MALAT1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneAPPC0002395Alzheimer's Disease55CTD_human;HPO;ORPHANET;UNIPROT
HgeneAPPC0025261Memory Disorders12CTD_human
HgeneAPPC0027746Nerve Degeneration11CTD_human
HgeneAPPC0023186Learning Disorders6CTD_human
HgeneAPPC0011570Mental Depression5PSYGENET
HgeneAPPC0011581Depressive disorder5PSYGENET
HgeneAPPC2751536CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED5ORPHANET;UNIPROT
HgeneAPPC0009241Cognition Disorders4CTD_human
HgeneAPPC0522224Paralysed4CTD_human
HgeneAPPC0524851Neurodegenerative Disorders2CTD_human
HgeneAPPC0600467Neurogenic Inflammation2CTD_human
HgeneAPPC2931672Cerebral hemorrhage with amyloidosis, hereditary, Dutch type2CTD_human;ORPHANET
HgeneAPPC0002622Amnesia1CTD_human
HgeneAPPC0002726Amyloidosis1CTD_human
HgeneAPPC0003469Anxiety Disorders1CTD_human
HgeneAPPC0005586Bipolar Disorder1PSYGENET
HgeneAPPC0006111Brain Diseases1CTD_human
HgeneAPPC0011573Endogenous depression1PSYGENET
HgeneAPPC0016667Fragile X Syndrome1CTD_human
HgeneAPPC0023893Liver Cirrhosis, Experimental1CTD_human
HgeneAPPC0027540Necrosis1CTD_human
HgeneAPPC0037928Spinal Cord Diseases1CTD_human
HgeneAPPC0038002Splenomegaly1CTD_human
HgeneAPPC0043094Weight Gain1CTD_human
HgeneAPPC0085220Cerebral Amyloid Angiopathy1CTD_human;HPO
HgeneAPPC0231341Premature aging syndrome1CTD_human
HgeneAPPC0338656Impaired cognition1CTD_human
HgeneAPPC0497327Dementia1CTD_human;HPO
HgeneAPPC2936349Plaque, Amyloid1CTD_human
TgeneMALAT1C0023893Liver Cirrhosis, Experimental1CTD_human
TgeneMALAT1C0023903Liver neoplasms1CTD_human
TgeneMALAT1C0027626Neoplasm Invasiveness1CTD_human
TgeneMALAT1C0027627Neoplasm Metastasis1CTD_human
TgeneMALAT1C0032460Polycystic Ovary Syndrome1CTD_human
TgeneMALAT1C0236663Alcohol withdrawal syndrome1PSYGENET
TgeneMALAT1C0279626Squamous cell carcinoma of esophagus1CTD_human