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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:ESYT1-ESYT1 (FusionGDB2 ID:27595)

Fusion Gene Summary for ESYT1-ESYT1

check button Fusion gene summary
Fusion gene informationFusion gene name: ESYT1-ESYT1
Fusion gene ID: 27595
HgeneTgene
Gene symbol

ESYT1

ESYT1

Gene ID

23344

23344

Gene nameextended synaptotagmin 1extended synaptotagmin 1
SynonymsFAM62A|MBC2FAM62A|MBC2
Cytomap

12q13.2

12q13.2

Type of geneprotein-codingprotein-coding
Descriptionextended synaptotagmin-1extended synaptotagmin like protein 1extended synaptotagmin protein 1family with sequence similarity 62 (C2 domain containing), member Amembrane-bound C2 domain-containing proteinextended synaptotagmin-1extended synaptotagmin like protein 1extended synaptotagmin protein 1family with sequence similarity 62 (C2 domain containing), member Amembrane-bound C2 domain-containing protein
Modification date2020031320200313
UniProtAcc

Q9BSJ8

Q9BSJ8

Ensembl transtripts involved in fusion geneENST00000267113, ENST00000394048, 
ENST00000541590, ENST00000550878, 
ENST00000550878, ENST00000267113, 
ENST00000394048, ENST00000541590, 
Fusion gene scores* DoF score4 X 4 X 3=486 X 6 X 3=108
# samples 46
** MAII scorelog2(4/48*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(6/108*10)=-0.84799690655495
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ESYT1 [Title/Abstract] AND ESYT1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointESYT1(56526030)-ESYT1(56527411), # samples:1
Anticipated loss of major functional domain due to fusion event.
* 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

check buttonFusion gene breakpoints across ESYT1 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

check buttonFusion gene breakpoints across ESYT1 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

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
ChiTaRS5.0N/ABF753098ESYT1chr12

56526030

-ESYT1chr12

56527411

+


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Fusion Gene ORF analysis for ESYT1-ESYT1

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-intronENST00000267113ENST00000550878ESYT1chr12

56526030

-ESYT1chr12

56527411

+
5CDS-intronENST00000394048ENST00000550878ESYT1chr12

56526030

-ESYT1chr12

56527411

+
5CDS-intronENST00000541590ENST00000550878ESYT1chr12

56526030

-ESYT1chr12

56527411

+
In-frameENST00000267113ENST00000267113ESYT1chr12

56526030

-ESYT1chr12

56527411

+
In-frameENST00000267113ENST00000394048ESYT1chr12

56526030

-ESYT1chr12

56527411

+
In-frameENST00000267113ENST00000541590ESYT1chr12

56526030

-ESYT1chr12

56527411

+
In-frameENST00000394048ENST00000267113ESYT1chr12

56526030

-ESYT1chr12

56527411

+
In-frameENST00000394048ENST00000394048ESYT1chr12

56526030

-ESYT1chr12

56527411

+
In-frameENST00000394048ENST00000541590ESYT1chr12

56526030

-ESYT1chr12

56527411

+
In-frameENST00000541590ENST00000267113ESYT1chr12

56526030

-ESYT1chr12

56527411

+
In-frameENST00000541590ENST00000394048ESYT1chr12

56526030

-ESYT1chr12

56527411

+
In-frameENST00000541590ENST00000541590ESYT1chr12

56526030

-ESYT1chr12

56527411

+
intron-3CDSENST00000550878ENST00000267113ESYT1chr12

56526030

-ESYT1chr12

56527411

+
intron-3CDSENST00000550878ENST00000394048ESYT1chr12

56526030

-ESYT1chr12

56527411

+
intron-3CDSENST00000550878ENST00000541590ESYT1chr12

56526030

-ESYT1chr12

56527411

+
intron-intronENST00000550878ENST00000550878ESYT1chr12

56526030

-ESYT1chr12

56527411

+

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 ESYT1-ESYT1


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.
genomic feature

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.

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Fusion Protein Features for ESYT1-ESYT1


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/chr12:56526030/chr12:56527411)
- 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
ESYT1

Q9BSJ8

ESYT1

Q9BSJ8

FUNCTION: Binds glycerophospholipids in a barrel-like domain and may play a role in cellular lipid transport (By similarity). Binds calcium (via the C2 domains) and translocates to sites of contact between the endoplasmic reticulum and the cell membrane in response to increased cytosolic calcium levels. Helps tether the endoplasmic reticulum to the cell membrane and promotes the formation of appositions between the endoplasmic reticulum and the cell membrane. {ECO:0000250, ECO:0000269|PubMed:23791178, ECO:0000269|PubMed:24183667}.FUNCTION: Binds glycerophospholipids in a barrel-like domain and may play a role in cellular lipid transport (By similarity). Binds calcium (via the C2 domains) and translocates to sites of contact between the endoplasmic reticulum and the cell membrane in response to increased cytosolic calcium levels. Helps tether the endoplasmic reticulum to the cell membrane and promotes the formation of appositions between the endoplasmic reticulum and the cell membrane. {ECO:0000250, ECO:0000269|PubMed:23791178, ECO:0000269|PubMed:24183667}.

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
TgeneESYT1chr12:56526030chr12:56527411ENST0000026711303191_11601115.0Coiled coilOntology_term=ECO:0000255
TgeneESYT1chr12:56526030chr12:56527411ENST0000039404803191_11601105.0Coiled coilOntology_term=ECO:0000255
TgeneESYT1chr12:56526030chr12:56527411ENST0000054159003291_1160975.3333333333334Coiled coilOntology_term=ECO:0000255
TgeneESYT1chr12:56526030chr12:56527411ENST000002671130311012_101501115.0Compositional biasNote=Poly-Leu
TgeneESYT1chr12:56526030chr12:56527411ENST00000267113031924_93501115.0Compositional biasNote=Poly-Ser
TgeneESYT1chr12:56526030chr12:56527411ENST000003940480311012_101501105.0Compositional biasNote=Poly-Leu
TgeneESYT1chr12:56526030chr12:56527411ENST00000394048031924_93501105.0Compositional biasNote=Poly-Ser
TgeneESYT1chr12:56526030chr12:56527411ENST000005415900321012_10150975.3333333333334Compositional biasNote=Poly-Leu
TgeneESYT1chr12:56526030chr12:56527411ENST00000541590032924_9350975.3333333333334Compositional biasNote=Poly-Ser
TgeneESYT1chr12:56526030chr12:56527411ENST00000267113031135_31301115.0DomainSMP-LTD
TgeneESYT1chr12:56526030chr12:56527411ENST00000267113031312_43301115.0DomainC2 1
TgeneESYT1chr12:56526030chr12:56527411ENST00000267113031460_58001115.0DomainC2 2
TgeneESYT1chr12:56526030chr12:56527411ENST00000267113031627_75101115.0DomainC2 3
TgeneESYT1chr12:56526030chr12:56527411ENST00000267113031777_89901115.0DomainC2 4
TgeneESYT1chr12:56526030chr12:56527411ENST00000267113031971_109301115.0DomainC2 5
TgeneESYT1chr12:56526030chr12:56527411ENST00000394048031135_31301105.0DomainSMP-LTD
TgeneESYT1chr12:56526030chr12:56527411ENST00000394048031312_43301105.0DomainC2 1
TgeneESYT1chr12:56526030chr12:56527411ENST00000394048031460_58001105.0DomainC2 2
TgeneESYT1chr12:56526030chr12:56527411ENST00000394048031627_75101105.0DomainC2 3
TgeneESYT1chr12:56526030chr12:56527411ENST00000394048031777_89901105.0DomainC2 4
TgeneESYT1chr12:56526030chr12:56527411ENST00000394048031971_109301105.0DomainC2 5
TgeneESYT1chr12:56526030chr12:56527411ENST00000541590032135_3130975.3333333333334DomainSMP-LTD
TgeneESYT1chr12:56526030chr12:56527411ENST00000541590032312_4330975.3333333333334DomainC2 1
TgeneESYT1chr12:56526030chr12:56527411ENST00000541590032460_5800975.3333333333334DomainC2 2
TgeneESYT1chr12:56526030chr12:56527411ENST00000541590032627_7510975.3333333333334DomainC2 3
TgeneESYT1chr12:56526030chr12:56527411ENST00000541590032777_8990975.3333333333334DomainC2 4
TgeneESYT1chr12:56526030chr12:56527411ENST00000541590032971_10930975.3333333333334DomainC2 5
TgeneESYT1chr12:56526030chr12:56527411ENST000002671130311018_102501115.0RegionRequired for phosphatidylinositol 4%2C5-bisphosphate-dependent location at the cell membrane
TgeneESYT1chr12:56526030chr12:56527411ENST000003940480311018_102501105.0RegionRequired for phosphatidylinositol 4%2C5-bisphosphate-dependent location at the cell membrane
TgeneESYT1chr12:56526030chr12:56527411ENST000005415900321018_10250975.3333333333334RegionRequired for phosphatidylinositol 4%2C5-bisphosphate-dependent location at the cell membrane
TgeneESYT1chr12:56526030chr12:56527411ENST000002671130311_3801115.0Topological domainCytoplasmic
TgeneESYT1chr12:56526030chr12:56527411ENST0000026711303160_6201115.0Topological domainLumenal
TgeneESYT1chr12:56526030chr12:56527411ENST0000026711303184_110401115.0Topological domainCytoplasmic
TgeneESYT1chr12:56526030chr12:56527411ENST000003940480311_3801105.0Topological domainCytoplasmic
TgeneESYT1chr12:56526030chr12:56527411ENST0000039404803160_6201105.0Topological domainLumenal
TgeneESYT1chr12:56526030chr12:56527411ENST0000039404803184_110401105.0Topological domainCytoplasmic
TgeneESYT1chr12:56526030chr12:56527411ENST000005415900321_380975.3333333333334Topological domainCytoplasmic
TgeneESYT1chr12:56526030chr12:56527411ENST0000054159003260_620975.3333333333334Topological domainLumenal
TgeneESYT1chr12:56526030chr12:56527411ENST0000054159003284_11040975.3333333333334Topological domainCytoplasmic
TgeneESYT1chr12:56526030chr12:56527411ENST0000026711303139_5901115.0TransmembraneHelical
TgeneESYT1chr12:56526030chr12:56527411ENST0000026711303163_8301115.0TransmembraneHelical
TgeneESYT1chr12:56526030chr12:56527411ENST0000039404803139_5901105.0TransmembraneHelical
TgeneESYT1chr12:56526030chr12:56527411ENST0000039404803163_8301105.0TransmembraneHelical
TgeneESYT1chr12:56526030chr12:56527411ENST0000054159003239_590975.3333333333334TransmembraneHelical
TgeneESYT1chr12:56526030chr12:56527411ENST0000054159003263_830975.3333333333334TransmembraneHelical

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneESYT1chr12:56526030chr12:56527411ENST00000267113-13191_11601115.0Coiled coilOntology_term=ECO:0000255
HgeneESYT1chr12:56526030chr12:56527411ENST00000394048-13191_11601105.0Coiled coilOntology_term=ECO:0000255
HgeneESYT1chr12:56526030chr12:56527411ENST00000541590-13291_1160975.3333333333334Coiled coilOntology_term=ECO:0000255
HgeneESYT1chr12:56526030chr12:56527411ENST00000267113-1311012_101501115.0Compositional biasNote=Poly-Leu
HgeneESYT1chr12:56526030chr12:56527411ENST00000267113-131924_93501115.0Compositional biasNote=Poly-Ser
HgeneESYT1chr12:56526030chr12:56527411ENST00000394048-1311012_101501105.0Compositional biasNote=Poly-Leu
HgeneESYT1chr12:56526030chr12:56527411ENST00000394048-131924_93501105.0Compositional biasNote=Poly-Ser
HgeneESYT1chr12:56526030chr12:56527411ENST00000541590-1321012_10150975.3333333333334Compositional biasNote=Poly-Leu
HgeneESYT1chr12:56526030chr12:56527411ENST00000541590-132924_9350975.3333333333334Compositional biasNote=Poly-Ser
HgeneESYT1chr12:56526030chr12:56527411ENST00000267113-131135_31301115.0DomainSMP-LTD
HgeneESYT1chr12:56526030chr12:56527411ENST00000267113-131312_43301115.0DomainC2 1
HgeneESYT1chr12:56526030chr12:56527411ENST00000267113-131460_58001115.0DomainC2 2
HgeneESYT1chr12:56526030chr12:56527411ENST00000267113-131627_75101115.0DomainC2 3
HgeneESYT1chr12:56526030chr12:56527411ENST00000267113-131777_89901115.0DomainC2 4
HgeneESYT1chr12:56526030chr12:56527411ENST00000267113-131971_109301115.0DomainC2 5
HgeneESYT1chr12:56526030chr12:56527411ENST00000394048-131135_31301105.0DomainSMP-LTD
HgeneESYT1chr12:56526030chr12:56527411ENST00000394048-131312_43301105.0DomainC2 1
HgeneESYT1chr12:56526030chr12:56527411ENST00000394048-131460_58001105.0DomainC2 2
HgeneESYT1chr12:56526030chr12:56527411ENST00000394048-131627_75101105.0DomainC2 3
HgeneESYT1chr12:56526030chr12:56527411ENST00000394048-131777_89901105.0DomainC2 4
HgeneESYT1chr12:56526030chr12:56527411ENST00000394048-131971_109301105.0DomainC2 5
HgeneESYT1chr12:56526030chr12:56527411ENST00000541590-132135_3130975.3333333333334DomainSMP-LTD
HgeneESYT1chr12:56526030chr12:56527411ENST00000541590-132312_4330975.3333333333334DomainC2 1
HgeneESYT1chr12:56526030chr12:56527411ENST00000541590-132460_5800975.3333333333334DomainC2 2
HgeneESYT1chr12:56526030chr12:56527411ENST00000541590-132627_7510975.3333333333334DomainC2 3
HgeneESYT1chr12:56526030chr12:56527411ENST00000541590-132777_8990975.3333333333334DomainC2 4
HgeneESYT1chr12:56526030chr12:56527411ENST00000541590-132971_10930975.3333333333334DomainC2 5
HgeneESYT1chr12:56526030chr12:56527411ENST00000267113-1311018_102501115.0RegionRequired for phosphatidylinositol 4%2C5-bisphosphate-dependent location at the cell membrane
HgeneESYT1chr12:56526030chr12:56527411ENST00000394048-1311018_102501105.0RegionRequired for phosphatidylinositol 4%2C5-bisphosphate-dependent location at the cell membrane
HgeneESYT1chr12:56526030chr12:56527411ENST00000541590-1321018_10250975.3333333333334RegionRequired for phosphatidylinositol 4%2C5-bisphosphate-dependent location at the cell membrane
HgeneESYT1chr12:56526030chr12:56527411ENST00000267113-1311_3801115.0Topological domainCytoplasmic
HgeneESYT1chr12:56526030chr12:56527411ENST00000267113-13160_6201115.0Topological domainLumenal
HgeneESYT1chr12:56526030chr12:56527411ENST00000267113-13184_110401115.0Topological domainCytoplasmic
HgeneESYT1chr12:56526030chr12:56527411ENST00000394048-1311_3801105.0Topological domainCytoplasmic
HgeneESYT1chr12:56526030chr12:56527411ENST00000394048-13160_6201105.0Topological domainLumenal
HgeneESYT1chr12:56526030chr12:56527411ENST00000394048-13184_110401105.0Topological domainCytoplasmic
HgeneESYT1chr12:56526030chr12:56527411ENST00000541590-1321_380975.3333333333334Topological domainCytoplasmic
HgeneESYT1chr12:56526030chr12:56527411ENST00000541590-13260_620975.3333333333334Topological domainLumenal
HgeneESYT1chr12:56526030chr12:56527411ENST00000541590-13284_11040975.3333333333334Topological domainCytoplasmic
HgeneESYT1chr12:56526030chr12:56527411ENST00000267113-13139_5901115.0TransmembraneHelical
HgeneESYT1chr12:56526030chr12:56527411ENST00000267113-13163_8301115.0TransmembraneHelical
HgeneESYT1chr12:56526030chr12:56527411ENST00000394048-13139_5901105.0TransmembraneHelical
HgeneESYT1chr12:56526030chr12:56527411ENST00000394048-13163_8301105.0TransmembraneHelical
HgeneESYT1chr12:56526030chr12:56527411ENST00000541590-13239_590975.3333333333334TransmembraneHelical
HgeneESYT1chr12:56526030chr12:56527411ENST00000541590-13263_830975.3333333333334TransmembraneHelical


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Fusion Gene Sequence for ESYT1-ESYT1


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 ESYT1-ESYT1


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 ESYT1-ESYT1


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 ESYT1-ESYT1


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