FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact
Center for Computational Systems Medicine
leaf

Fusion Gene Summary

leaf

Fusion Gene ORF analysis

leaf

Fusion Genomic Features

leaf

Fusion Protein Features

leaf

Fusion Gene Sequence

leaf

Fusion Gene PPI analysis

leaf

Related Drugs

leaf

Related Diseases

Fusion gene:SEC16A-NOTCH1 (FusionGDB2 ID:80012)

Fusion Gene Summary for SEC16A-NOTCH1

check button Fusion gene summary
Fusion gene informationFusion gene name: SEC16A-NOTCH1
Fusion gene ID: 80012
HgeneTgene
Gene symbol

SEC16A

NOTCH1

Gene ID

9919

4851

Gene nameSEC16 homolog A, endoplasmic reticulum export factornotch receptor 1
SynonymsKIAA0310|SEC16L|p250AOS5|AOVD1|TAN1|hN1
Cytomap

9q34.3

9q34.3

Type of geneprotein-codingprotein-coding
Descriptionprotein transport protein Sec16Aprotein SEC16 homolog Aneurogenic locus notch homolog protein 1Notch homolog 1, translocation-associatednotch 1translocation-associated notch protein TAN-1
Modification date2020031320200329
UniProtAcc.

P46531

Ensembl transtripts involved in fusion geneENST00000290037, ENST00000313050, 
ENST00000371706, ENST00000431893, 
ENST00000313084, ENST00000398335, 
ENST00000467838, 		ENST00000491649, 
ENST00000277541, 
Fusion gene scores* DoF score12 X 11 X 10=13209 X 11 X 9=891
# samples 1511
** MAII scorelog2(15/1320*10)=-3.13750352374993
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(11/891*10)=-3.01792190799726
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: SEC16A [Title/Abstract] AND NOTCH1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointSEC16A(139357339)-NOTCH1(139438554), # samples:2
NOTCH1(139438475)-SEC16A(139372136), # samples:1
Anticipated loss of major functional domain due to fusion event.SEC16A-NOTCH1 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
SEC16A-NOTCH1 seems lost the major protein functional domain in Tgene partner, which is a CGC due to the frame-shifted ORF.
SEC16A-NOTCH1 seems lost the major protein functional domain in Tgene partner, which is a IUPHAR drug target due to the frame-shifted ORF.
SEC16A-NOTCH1 seems lost the major protein functional domain in Tgene partner, which is a tumor suppressor due to the frame-shifted ORF.
NOTCH1-SEC16A seems lost the major protein functional domain in Hgene partner, which is a CGC due to the frame-shifted ORF.
NOTCH1-SEC16A seems lost the major protein functional domain in Hgene partner, which is a IUPHAR drug target due to the frame-shifted ORF.
NOTCH1-SEC16A seems lost the major protein functional domain in Hgene partner, which is a tumor suppressor due to the frame-shifted ORF.
NOTCH1-SEC16A seems lost the major protein functional domain in Tgene partner, which is a essential gene 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
HgeneSEC16A

GO:0007029

endoplasmic reticulum organization

21768384

HgeneSEC16A

GO:0034976

response to endoplasmic reticulum stress

28067262

TgeneNOTCH1

GO:0007050

cell cycle arrest

11306509

TgeneNOTCH1

GO:0007219

Notch signaling pathway

11306509

TgeneNOTCH1

GO:0008284

positive regulation of cell proliferation

17849174

TgeneNOTCH1

GO:0008285

negative regulation of cell proliferation

11306509|20616313

TgeneNOTCH1

GO:0010629

negative regulation of gene expression

11306509

TgeneNOTCH1

GO:0010812

negative regulation of cell-substrate adhesion

16501043

TgeneNOTCH1

GO:0035924

cellular response to vascular endothelial growth factor stimulus

20616313

TgeneNOTCH1

GO:0045944

positive regulation of transcription by RNA polymerase II

20616313

TgeneNOTCH1

GO:0045967

negative regulation of growth rate

11306509

TgeneNOTCH1

GO:0046579

positive regulation of Ras protein signal transduction

11306509

TgeneNOTCH1

GO:0070374

positive regulation of ERK1 and ERK2 cascade

11306509

TgeneNOTCH1

GO:0071372

cellular response to follicle-stimulating hormone stimulus

20613903

TgeneNOTCH1

GO:0090051

negative regulation of cell migration involved in sprouting angiogenesis

20616313

TgeneNOTCH1

GO:2001027

negative regulation of endothelial cell chemotaxis

20616313


check buttonFusion gene breakpoints across SEC16A (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check buttonFusion gene breakpoints across NOTCH1 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check button Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0)
* 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
ChimerDB4LUSCTCGA-NC-A5HK-01ASEC16Achr9

139353586

-NOTCH1chr9

139418431

-
ChimerDB4THCATCGA-DJ-A2Q3-01ASEC16Achr9

139357339

-NOTCH1chr9

139438554

-
ChimerKB3..SEC16Achr9

139377389

-NOTCH1chr9

139396940

-
ChimerKB3..SEC16Achr9

139377389

-NOTCH1chr9

139397782

-


Top

Fusion Gene ORF analysis for SEC16A-NOTCH1

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
5CDS-intronENST00000290037ENST00000491649SEC16Achr9

139353586

-NOTCH1chr9

139418431

-
5CDS-intronENST00000290037ENST00000491649SEC16Achr9

139357339

-NOTCH1chr9

139438554

-
5CDS-intronENST00000313050ENST00000491649SEC16Achr9

139353586

-NOTCH1chr9

139418431

-
5CDS-intronENST00000313050ENST00000491649SEC16Achr9

139357339

-NOTCH1chr9

139438554

-
5CDS-intronENST00000371706ENST00000491649SEC16Achr9

139353586

-NOTCH1chr9

139418431

-
5CDS-intronENST00000371706ENST00000491649SEC16Achr9

139357339

-NOTCH1chr9

139438554

-
5CDS-intronENST00000431893ENST00000491649SEC16Achr9

139353586

-NOTCH1chr9

139418431

-
5CDS-intronENST00000431893ENST00000491649SEC16Achr9

139357339

-NOTCH1chr9

139438554

-
Frame-shiftENST00000290037ENST00000277541SEC16Achr9

139353586

-NOTCH1chr9

139418431

-
Frame-shiftENST00000290037ENST00000277541SEC16Achr9

139357339

-NOTCH1chr9

139438554

-
Frame-shiftENST00000313050ENST00000277541SEC16Achr9

139353586

-NOTCH1chr9

139418431

-
Frame-shiftENST00000313050ENST00000277541SEC16Achr9

139357339

-NOTCH1chr9

139438554

-
Frame-shiftENST00000371706ENST00000277541SEC16Achr9

139353586

-NOTCH1chr9

139418431

-
Frame-shiftENST00000371706ENST00000277541SEC16Achr9

139357339

-NOTCH1chr9

139438554

-
Frame-shiftENST00000431893ENST00000277541SEC16Achr9

139353586

-NOTCH1chr9

139418431

-
Frame-shiftENST00000431893ENST00000277541SEC16Achr9

139357339

-NOTCH1chr9

139438554

-
intron-3CDSENST00000290037ENST00000277541SEC16Achr9

139377389

-NOTCH1chr9

139396940

-
intron-3CDSENST00000290037ENST00000277541SEC16Achr9

139377389

-NOTCH1chr9

139397782

-
intron-3CDSENST00000313050ENST00000277541SEC16Achr9

139377389

-NOTCH1chr9

139396940

-
intron-3CDSENST00000313050ENST00000277541SEC16Achr9

139377389

-NOTCH1chr9

139397782

-
intron-3CDSENST00000313084ENST00000277541SEC16Achr9

139353586

-NOTCH1chr9

139418431

-
intron-3CDSENST00000313084ENST00000277541SEC16Achr9

139357339

-NOTCH1chr9

139438554

-
intron-3CDSENST00000313084ENST00000277541SEC16Achr9

139377389

-NOTCH1chr9

139396940

-
intron-3CDSENST00000313084ENST00000277541SEC16Achr9

139377389

-NOTCH1chr9

139397782

-
intron-3CDSENST00000371706ENST00000277541SEC16Achr9

139377389

-NOTCH1chr9

139396940

-
intron-3CDSENST00000371706ENST00000277541SEC16Achr9

139377389

-NOTCH1chr9

139397782

-
intron-3CDSENST00000398335ENST00000277541SEC16Achr9

139353586

-NOTCH1chr9

139418431

-
intron-3CDSENST00000398335ENST00000277541SEC16Achr9

139357339

-NOTCH1chr9

139438554

-
intron-3CDSENST00000398335ENST00000277541SEC16Achr9

139377389

-NOTCH1chr9

139396940

-
intron-3CDSENST00000398335ENST00000277541SEC16Achr9

139377389

-NOTCH1chr9

139397782

-
intron-3CDSENST00000431893ENST00000277541SEC16Achr9

139377389

-NOTCH1chr9

139396940

-
intron-3CDSENST00000431893ENST00000277541SEC16Achr9

139377389

-NOTCH1chr9

139397782

-
intron-3CDSENST00000467838ENST00000277541SEC16Achr9

139353586

-NOTCH1chr9

139418431

-
intron-3CDSENST00000467838ENST00000277541SEC16Achr9

139357339

-NOTCH1chr9

139438554

-
intron-3CDSENST00000467838ENST00000277541SEC16Achr9

139377389

-NOTCH1chr9

139396940

-
intron-3CDSENST00000467838ENST00000277541SEC16Achr9

139377389

-NOTCH1chr9

139397782

-
intron-intronENST00000290037ENST00000491649SEC16Achr9

139377389

-NOTCH1chr9

139396940

-
intron-intronENST00000290037ENST00000491649SEC16Achr9

139377389

-NOTCH1chr9

139397782

-
intron-intronENST00000313050ENST00000491649SEC16Achr9

139377389

-NOTCH1chr9

139396940

-
intron-intronENST00000313050ENST00000491649SEC16Achr9

139377389

-NOTCH1chr9

139397782

-
intron-intronENST00000313084ENST00000491649SEC16Achr9

139353586

-NOTCH1chr9

139418431

-
intron-intronENST00000313084ENST00000491649SEC16Achr9

139357339

-NOTCH1chr9

139438554

-
intron-intronENST00000313084ENST00000491649SEC16Achr9

139377389

-NOTCH1chr9

139396940

-
intron-intronENST00000313084ENST00000491649SEC16Achr9

139377389

-NOTCH1chr9

139397782

-
intron-intronENST00000371706ENST00000491649SEC16Achr9

139377389

-NOTCH1chr9

139396940

-
intron-intronENST00000371706ENST00000491649SEC16Achr9

139377389

-NOTCH1chr9

139397782

-
intron-intronENST00000398335ENST00000491649SEC16Achr9

139353586

-NOTCH1chr9

139418431

-
intron-intronENST00000398335ENST00000491649SEC16Achr9

139357339

-NOTCH1chr9

139438554

-
intron-intronENST00000398335ENST00000491649SEC16Achr9

139377389

-NOTCH1chr9

139396940

-
intron-intronENST00000398335ENST00000491649SEC16Achr9

139377389

-NOTCH1chr9

139397782

-
intron-intronENST00000431893ENST00000491649SEC16Achr9

139377389

-NOTCH1chr9

139396940

-
intron-intronENST00000431893ENST00000491649SEC16Achr9

139377389

-NOTCH1chr9

139397782

-
intron-intronENST00000467838ENST00000491649SEC16Achr9

139353586

-NOTCH1chr9

139418431

-
intron-intronENST00000467838ENST00000491649SEC16Achr9

139357339

-NOTCH1chr9

139438554

-
intron-intronENST00000467838ENST00000491649SEC16Achr9

139377389

-NOTCH1chr9

139396940

-
intron-intronENST00000467838ENST00000491649SEC16Achr9

139377389

-NOTCH1chr9

139397782

-

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

Top

Fusion Genomic Features for SEC16A-NOTCH1


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)

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page.

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.

Top

Fusion Protein Features for SEC16A-NOTCH1


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/:139357339/:139438554)
- 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
.NOTCH1

P46531

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: Functions as a receptor for membrane-bound ligands Jagged-1 (JAG1), Jagged-2 (JAG2) and Delta-1 (DLL1) to regulate cell-fate determination. Upon ligand activation through the released notch intracellular domain (NICD) it forms a transcriptional activator complex with RBPJ/RBPSUH and activates genes of the enhancer of split locus. Affects the implementation of differentiation, proliferation and apoptotic programs. Involved in angiogenesis; negatively regulates endothelial cell proliferation and migration and angiogenic sprouting. Involved in the maturation of both CD4(+) and CD8(+) cells in the thymus. Important for follicular differentiation and possibly cell fate selection within the follicle. During cerebellar development, functions as a receptor for neuronal DNER and is involved in the differentiation of Bergmann glia. Represses neuronal and myogenic differentiation. May play an essential role in postimplantation development, probably in some aspect of cell specification and/or differentiation. May be involved in mesoderm development, somite formation and neurogenesis. May enhance HIF1A function by sequestering HIF1AN away from HIF1A. Required for the THBS4 function in regulating protective astrogenesis from the subventricular zone (SVZ) niche after injury. Involved in determination of left/right symmetry by modulating the balance between motile and immotile (sensory) cilia at the left-right organiser (LRO). {ECO:0000269|PubMed:20616313}.

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

Fusion Gene Sequence for SEC16A-NOTCH1


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.

Top

Fusion Gene PPI Analysis for SEC16A-NOTCH1


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

Related Drugs for SEC16A-NOTCH1


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

Top

Related Diseases for SEC16A-NOTCH1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource