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Center for Computational Systems Medicine
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Fusion Gene Summary

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Fusion Gene ORF analysis

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Fusion Genomic Features

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Fusion Protein Features

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Fusion Gene Sequence

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Fusion Gene PPI analysis

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Related Drugs

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Related Diseases

Fusion gene:PSEN1-ANXA1 (FusionGDB2 ID:HG5663TG301)

Fusion Gene Summary for PSEN1-ANXA1

check button Fusion gene summary
Fusion gene informationFusion gene name: PSEN1-ANXA1
Fusion gene ID: hg5663tg301
HgeneTgene
Gene symbol

PSEN1

ANXA1

Gene ID

5663

301

Gene namepresenilin 1annexin A1
SynonymsACNINV3|AD3|FAD|PS-1|PS1|S182ANX1|LPC1
Cytomap('PSEN1')('ANXA1')

14q24.2

9q21.13

Type of geneprotein-codingprotein-coding
Descriptionpresenilin-1presenilin-1 isoform I-467annexin A1annexin I (lipocortin I)annexin-1calpactin IIcalpactin-2chromobindin-9epididymis secretory sperm binding proteinphospholipase A2 inhibitory protein
Modification date2020032920200329
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000344094, ENST00000324501, 
ENST00000357710, ENST00000394164, 
ENST00000406768, ENST00000261970, 
ENST00000394157, ENST00000553447, 
ENST00000557511, 
Fusion gene scores* DoF score7 X 6 X 6=25224 X 6 X 7=1008
# samples 723
** MAII scorelog2(7/252*10)=-1.84799690655495
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(23/1008*10)=-2.13178987255554
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: PSEN1 [Title/Abstract] AND ANXA1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointPSEN1(73678650)-ANXA1(75783948), # samples:1
Anticipated loss of major functional domain due to fusion event.PSEN1-ANXA1 seems lost the major protein functional domain in Hgene partner, which is a IUPHAR drug target due to the frame-shifted ORF.
PSEN1-ANXA1 seems lost the major protein functional domain in Tgene partner, which is a tumor suppressor due to the frame-shifted ORF.
* 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
HgenePSEN1

GO:0006509

membrane protein ectodomain proteolysis

15274632

HgenePSEN1

GO:0016485

protein processing

15274632

HgenePSEN1

GO:0032469

endoplasmic reticulum calcium ion homeostasis

17431506

HgenePSEN1

GO:0042325

regulation of phosphorylation

9689133

HgenePSEN1

GO:0042982

amyloid precursor protein metabolic process

26280335

HgenePSEN1

GO:0043066

negative regulation of apoptotic process

10805794

HgenePSEN1

GO:0043085

positive regulation of catalytic activity

15274632

TgeneANXA1

GO:0002548

monocyte chemotaxis

15187149

TgeneANXA1

GO:0007187

G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger

25664854

TgeneANXA1

GO:0008360

regulation of cell shape

15187149

TgeneANXA1

GO:0018149

peptide cross-linking

10908733

TgeneANXA1

GO:0030216

keratinocyte differentiation

10908733

TgeneANXA1

GO:0031340

positive regulation of vesicle fusion

2138016

TgeneANXA1

GO:0031532

actin cytoskeleton reorganization

15187149

TgeneANXA1

GO:0032743

positive regulation of interleukin-2 production

17008549

TgeneANXA1

GO:0035924

cellular response to vascular endothelial growth factor stimulus

22773844

TgeneANXA1

GO:0042102

positive regulation of T cell proliferation

17008549

TgeneANXA1

GO:0045627

positive regulation of T-helper 1 cell differentiation

17008549

TgeneANXA1

GO:0045629

negative regulation of T-helper 2 cell differentiation

17008549

TgeneANXA1

GO:0071385

cellular response to glucocorticoid stimulus

2936963

TgeneANXA1

GO:0071621

granulocyte chemotaxis

15187149

TgeneANXA1

GO:0090050

positive regulation of cell migration involved in sprouting angiogenesis

22773844

TgeneANXA1

GO:0090303

positive regulation of wound healing

25664854



check button Fusion gene information
* 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.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChimerDB4CESCTCGA-C5-A1BK-01BPSEN1chr14

73678650

+ANXA1chr9

75783948

+


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Fusion Gene ORF analysis for PSEN1-ANXA1

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-3CDSENST00000344094ENST00000257497PSEN1chr14

73678650

+ANXA1chr9

75783948

+
3UTR-3CDSENST00000344094ENST00000376911PSEN1chr14

73678650

+ANXA1chr9

75783948

+
3UTR-3UTRENST00000344094ENST00000491192PSEN1chr14

73678650

+ANXA1chr9

75783948

+
5CDS-3UTRENST00000324501ENST00000491192PSEN1chr14

73678650

+ANXA1chr9

75783948

+
5CDS-3UTRENST00000357710ENST00000491192PSEN1chr14

73678650

+ANXA1chr9

75783948

+
5CDS-3UTRENST00000394164ENST00000491192PSEN1chr14

73678650

+ANXA1chr9

75783948

+
5CDS-3UTRENST00000406768ENST00000491192PSEN1chr14

73678650

+ANXA1chr9

75783948

+
Frame-shiftENST00000324501ENST00000257497PSEN1chr14

73678650

+ANXA1chr9

75783948

+
Frame-shiftENST00000324501ENST00000376911PSEN1chr14

73678650

+ANXA1chr9

75783948

+
Frame-shiftENST00000357710ENST00000257497PSEN1chr14

73678650

+ANXA1chr9

75783948

+
Frame-shiftENST00000357710ENST00000376911PSEN1chr14

73678650

+ANXA1chr9

75783948

+
Frame-shiftENST00000394164ENST00000257497PSEN1chr14

73678650

+ANXA1chr9

75783948

+
Frame-shiftENST00000394164ENST00000376911PSEN1chr14

73678650

+ANXA1chr9

75783948

+
Frame-shiftENST00000406768ENST00000257497PSEN1chr14

73678650

+ANXA1chr9

75783948

+
Frame-shiftENST00000406768ENST00000376911PSEN1chr14

73678650

+ANXA1chr9

75783948

+
intron-3CDSENST00000261970ENST00000257497PSEN1chr14

73678650

+ANXA1chr9

75783948

+
intron-3CDSENST00000261970ENST00000376911PSEN1chr14

73678650

+ANXA1chr9

75783948

+
intron-3CDSENST00000394157ENST00000257497PSEN1chr14

73678650

+ANXA1chr9

75783948

+
intron-3CDSENST00000394157ENST00000376911PSEN1chr14

73678650

+ANXA1chr9

75783948

+
intron-3CDSENST00000553447ENST00000257497PSEN1chr14

73678650

+ANXA1chr9

75783948

+
intron-3CDSENST00000553447ENST00000376911PSEN1chr14

73678650

+ANXA1chr9

75783948

+
intron-3CDSENST00000557511ENST00000257497PSEN1chr14

73678650

+ANXA1chr9

75783948

+
intron-3CDSENST00000557511ENST00000376911PSEN1chr14

73678650

+ANXA1chr9

75783948

+
intron-3UTRENST00000261970ENST00000491192PSEN1chr14

73678650

+ANXA1chr9

75783948

+
intron-3UTRENST00000394157ENST00000491192PSEN1chr14

73678650

+ANXA1chr9

75783948

+
intron-3UTRENST00000553447ENST00000491192PSEN1chr14

73678650

+ANXA1chr9

75783948

+
intron-3UTRENST00000557511ENST00000491192PSEN1chr14

73678650

+ANXA1chr9

75783948

+

check buttonORFfinder result based on the fusion transcript sequence of in-frame fusion genes.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)
BP loci
(transcript)
Predicted start
(transcript)
Predicted stop
(transcript)
Seq length
(amino acids)

check buttonDeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score

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Fusion Genomic Features for PSEN1-ANXA1


check buttonFusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints.
HgeneHchrHbpHstrandTgeneTchrTbpTstrand1-pp (fusion gene breakpoint)
PSEN1chr1473678650+ANXA1chr975783947+0.0040736090.9959264
PSEN1chr1473678650+ANXA1chr975783947+0.0040736090.9959264


check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page.
genomic feature of top 1%

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Fusion Protein Features for PSEN1-ANXA1


check button Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:73678650/:75783948)
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
- How to search
1. Put your fusion gene symbol.
2. Press the tab key until there will be shown the breakpoint information filled.
4. Go down and press 'Search' tab twice.
4. Go down to have the hyperlink of the search result.
5. Click the hyperlink.
6. See the FGviewer result for your fusion gene.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
..
FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.

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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Fusion Gene Sequence for PSEN1-ANXA1


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones.

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Fusion Gene PPI Analysis for PSEN1-ANXA1


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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Related Drugs for PSEN1-ANXA1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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Related Diseases for PSEN1-ANXA1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgenePSEN1C1843013Alzheimer disease, familial, type 384GENOMICS_ENGLAND;UNIPROT
HgenePSEN1C0002395Alzheimer's Disease13CTD_human
HgenePSEN1C0011265Presenile dementia13CTD_human
HgenePSEN1C0276496Familial Alzheimer Disease (FAD)13CTD_human
HgenePSEN1C0494463Alzheimer Disease, Late Onset13CTD_human
HgenePSEN1C0546126Acute Confusional Senile Dementia13CTD_human
HgenePSEN1C0750900Alzheimer's Disease, Focal Onset13CTD_human
HgenePSEN1C0750901Alzheimer Disease, Early Onset13CTD_human
HgenePSEN1C0236642Pick Disease of the Brain6CTD_human;GENOMICS_ENGLAND;UNIPROT
HgenePSEN1C0011570Mental Depression5PSYGENET
HgenePSEN1C0011581Depressive disorder5PSYGENET
HgenePSEN1C0338451Frontotemporal dementia5CTD_human;GENOMICS_ENGLAND;UNIPROT
HgenePSEN1C3160720Cardiomyopathy, Dilated, 1u5CTD_human;GENOMICS_ENGLAND;UNIPROT
HgenePSEN1C3151038ACNE INVERSA, FAMILIAL, 33GENOMICS_ENGLAND
HgenePSEN1C0013421Dystonia2GENOMICS_ENGLAND
HgenePSEN1C0025261Memory Disorders2CTD_human
HgenePSEN1C0233794Memory impairment2CTD_human
HgenePSEN1C0751292Age-Related Memory Disorders2CTD_human
HgenePSEN1C0751293Memory Disorder, Semantic2CTD_human
HgenePSEN1C0751294Memory Disorder, Spatial2CTD_human
HgenePSEN1C0751295Memory Loss2CTD_human
HgenePSEN1C0002726Amyloidosis1CTD_human
HgenePSEN1C0004045Asphyxia Neonatorum1CTD_human
HgenePSEN1C0007193Cardiomyopathy, Dilated1CTD_human
HgenePSEN1C0009241Cognition Disorders1CTD_human
HgenePSEN1C0023186Learning Disorders1CTD_human
HgenePSEN1C0027746Nerve Degeneration1CTD_human
HgenePSEN1C0033141Cardiomyopathies, Primary1CTD_human
HgenePSEN1C0036529Myocardial Diseases, Secondary1CTD_human
HgenePSEN1C0038002Splenomegaly1CTD_human
HgenePSEN1C0270715Degenerative Diseases, Central Nervous System1CTD_human
HgenePSEN1C0338462Semantic Dementia1CTD_human;ORPHANET
HgenePSEN1C0340427Familial dilated cardiomyopathy1ORPHANET
HgenePSEN1C0524851Neurodegenerative Disorders1CTD_human
HgenePSEN1C0751262Adult Learning Disorders1CTD_human
HgenePSEN1C0751263Learning Disturbance1CTD_human
HgenePSEN1C0751265Learning Disabilities1CTD_human
HgenePSEN1C0751706Primary Progressive Nonfluent Aphasia1ORPHANET
HgenePSEN1C0751733Degenerative Diseases, Spinal Cord1CTD_human
HgenePSEN1C0878544Cardiomyopathies1CTD_human
HgenePSEN1C1330966Developmental Academic Disorder1CTD_human
HgenePSEN1C1449563Cardiomyopathy, Familial Idiopathic1CTD_human
HgenePSEN1C1840560Hidradenitis suppurativa, familial1CTD_human
HgenePSEN1C4011788Behavioral variant of frontotemporal dementia1ORPHANET
TgeneC0024667Animal Mammary Neoplasms3CTD_human
TgeneC1257925Mammary Carcinoma, Animal3CTD_human
TgeneC0007097Carcinoma2CTD_human
TgeneC0024668Mammary Neoplasms, Experimental2CTD_human
TgeneC0205696Anaplastic carcinoma2CTD_human
TgeneC0205697Carcinoma, Spindle-Cell2CTD_human
TgeneC0205698Undifferentiated carcinoma2CTD_human
TgeneC0205699Carcinomatosis2CTD_human
TgeneC0007137Squamous cell carcinoma1CTD_human
TgeneC0020538Hypertensive disease1CTD_human
TgeneC0022658Kidney Diseases1CTD_human
TgeneC0023893Liver Cirrhosis, Experimental1CTD_human
TgeneC0024232Lymphatic Metastasis1CTD_human
TgeneC0026640Mouth Neoplasms1CTD_human
TgeneC0027626Neoplasm Invasiveness1CTD_human
TgeneC0027627Neoplasm Metastasis1CTD_human
TgeneC0033578Prostatic Neoplasms1CTD_human
TgeneC0038354Stomach Diseases1CTD_human
TgeneC0152013Adenocarcinoma of lung (disorder)1CTD_human
TgeneC0153381Malignant neoplasm of mouth1CTD_human
TgeneC0279626Squamous cell carcinoma of esophagus1CTD_human
TgeneC0376358Malignant neoplasm of prostate1CTD_human
TgeneC0376634Craniofacial Abnormalities1CTD_human