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:EHD1-ATG2A (FusionGDB2 ID:25547)

Fusion Gene Summary for EHD1-ATG2A

check button Fusion gene summary
Fusion gene informationFusion gene name: EHD1-ATG2A
Fusion gene ID: 25547
HgeneTgene
Gene symbol

EHD1

ATG2A

Gene ID

10938

23130

Gene nameEH domain containing 1autophagy related 2A
SynonymsH-PAST|HPAST1|PAST|PAST1-
Cytomap

11q13.1

11q13.1

Type of geneprotein-codingprotein-coding
DescriptionEH domain-containing protein 1PAST homolog 1testilinautophagy-related protein 2 homolog AATG2 autophagy related 2 homolog A
Modification date2020032920200313
UniProtAcc

Q9H4M9

Q2TAZ0

Ensembl transtripts involved in fusion geneENST00000320631, ENST00000359393, 
ENST00000488711, 
ENST00000377264, 
ENST00000421419, 
Fusion gene scores* DoF score6 X 7 X 6=2523 X 4 X 3=36
# samples 84
** MAII scorelog2(8/252*10)=-1.65535182861255
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(4/36*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: EHD1 [Title/Abstract] AND ATG2A [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointEHD1(64645533)-ATG2A(64662681), # samples:2
Anticipated loss of major functional domain due to fusion event.EHD1-ATG2A seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
EHD1-ATG2A 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

check buttonFusion gene breakpoints across EHD1 (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 ATG2A (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
ChimerDB4OVTCGA-13-0801-01AEHD1chr11

64645533

-ATG2Achr11

64662681

-
ChimerDB4OVTCGA-13-0801-01AEHD1chr11

64645533

-ATG2Achr11

64662914

-
ChimerDB4OVTCGA-13-0801EHD1chr11

64645532

-ATG2Achr11

64662681

-


Top

Fusion Gene ORF analysis for EHD1-ATG2A

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
Frame-shiftENST00000320631ENST00000377264EHD1chr11

64645533

-ATG2Achr11

64662681

-
Frame-shiftENST00000320631ENST00000377264EHD1chr11

64645532

-ATG2Achr11

64662681

-
Frame-shiftENST00000359393ENST00000377264EHD1chr11

64645533

-ATG2Achr11

64662681

-
Frame-shiftENST00000359393ENST00000377264EHD1chr11

64645533

-ATG2Achr11

64662914

-
Frame-shiftENST00000359393ENST00000377264EHD1chr11

64645532

-ATG2Achr11

64662681

-
Frame-shiftENST00000359393ENST00000421419EHD1chr11

64645533

-ATG2Achr11

64662681

-
Frame-shiftENST00000359393ENST00000421419EHD1chr11

64645533

-ATG2Achr11

64662914

-
Frame-shiftENST00000359393ENST00000421419EHD1chr11

64645532

-ATG2Achr11

64662681

-
In-frameENST00000320631ENST00000377264EHD1chr11

64645533

-ATG2Achr11

64662914

-
In-frameENST00000320631ENST00000421419EHD1chr11

64645533

-ATG2Achr11

64662681

-
In-frameENST00000320631ENST00000421419EHD1chr11

64645533

-ATG2Achr11

64662914

-
In-frameENST00000320631ENST00000421419EHD1chr11

64645532

-ATG2Achr11

64662681

-
intron-3CDSENST00000488711ENST00000377264EHD1chr11

64645533

-ATG2Achr11

64662681

-
intron-3CDSENST00000488711ENST00000377264EHD1chr11

64645533

-ATG2Achr11

64662914

-
intron-3CDSENST00000488711ENST00000377264EHD1chr11

64645532

-ATG2Achr11

64662681

-
intron-3CDSENST00000488711ENST00000421419EHD1chr11

64645533

-ATG2Achr11

64662681

-
intron-3CDSENST00000488711ENST00000421419EHD1chr11

64645533

-ATG2Achr11

64662914

-
intron-3CDSENST00000488711ENST00000421419EHD1chr11

64645532

-ATG2Achr11

64662681

-

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 EHD1-ATG2A


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.

Top

Fusion Protein Features for EHD1-ATG2A


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/chr11:64645533/chr11:64662681)
- 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
EHD1

Q9H4M9

ATG2A

Q2TAZ0

FUNCTION: ATP- and membrane-binding protein that controls membrane reorganization/tubulation upon ATP hydrolysis. In vitro causes vesiculation of endocytic membranes (PubMed:24019528). Acts in early endocytic membrane fusion and membrane trafficking of recycling endosomes (PubMed:15020713, PubMed:17233914, PubMed:20801876). Recruited to endosomal membranes upon nerve growth factor stimulation, indirectly regulates neurite outgrowth (By similarity). Plays a role in myoblast fusion (By similarity). Involved in the unidirectional retrograde dendritic transport of endocytosed BACE1 and in efficient sorting of BACE1 to axons implicating a function in neuronal APP processing (By similarity). Plays a role in the formation of the ciliary vesicle (CV), an early step in cilium biogenesis. Proposed to be required for the fusion of distal appendage vesicles (DAVs) to form the CV by recruiting SNARE complex component SNAP29. Is required for recruitment of transition zone proteins CEP290, RPGRIP1L, TMEM67 and B9D2, and of IFT20 following DAV reorganization before Rab8-dependent ciliary membrane extension. Required for the loss of CCP110 form the mother centriole essential for the maturation of the basal body during ciliogenesis (PubMed:25686250). {ECO:0000250|UniProtKB:Q641Z6, ECO:0000250|UniProtKB:Q9WVK4, ECO:0000269|PubMed:15020713, ECO:0000269|PubMed:17233914, ECO:0000269|PubMed:20801876, ECO:0000269|PubMed:24019528, ECO:0000269|PubMed:25686250}.FUNCTION: Involved in autophagosome assembly, regulating the size of nascent autophagosomes (PubMed:28561066). Also regulates lipid droplets morphology and distribution within the cell (PubMed:22219374, PubMed:28561066). Tethers the edge of the isolation membrane (IM) to the endoplasmic reticulum (ER) and mediates direct lipid transfer from ER to IM for IM expansion (By similarity). {ECO:0000250|UniProtKB:Q96BY7, ECO:0000269|PubMed:22219374, ECO:0000269|PubMed:28561066}.

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
HgeneEHD1chr11:64645532chr11:64662681ENST00000320631-1565_72134535.0RegionG1 motif
HgeneEHD1chr11:64645532chr11:64662681ENST00000320631-1591_92134535.0RegionG2 motif
HgeneEHD1chr11:64645532chr11:64662681ENST00000359393-3765_72134535.0RegionG1 motif
HgeneEHD1chr11:64645532chr11:64662681ENST00000359393-3791_92134535.0RegionG2 motif
HgeneEHD1chr11:64645533chr11:64662681ENST00000320631-1565_72134535.0RegionG1 motif
HgeneEHD1chr11:64645533chr11:64662681ENST00000320631-1591_92134535.0RegionG2 motif
HgeneEHD1chr11:64645533chr11:64662681ENST00000359393-3765_72134535.0RegionG1 motif
HgeneEHD1chr11:64645533chr11:64662681ENST00000359393-3791_92134535.0RegionG2 motif
HgeneEHD1chr11:64645533chr11:64662914ENST00000320631-1565_72134535.0RegionG1 motif
HgeneEHD1chr11:64645533chr11:64662914ENST00000320631-1591_92134535.0RegionG2 motif
HgeneEHD1chr11:64645533chr11:64662914ENST00000359393-3765_72134535.0RegionG1 motif
HgeneEHD1chr11:64645533chr11:64662914ENST00000359393-3791_92134535.0RegionG2 motif

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneEHD1chr11:64645532chr11:64662681ENST00000320631-15489_500134535.0Calcium bindingOntology_term=ECO:0000269,ECO:0007744,ECO:0007744
HgeneEHD1chr11:64645532chr11:64662681ENST00000359393-37489_500134535.0Calcium bindingOntology_term=ECO:0000269,ECO:0007744,ECO:0007744
HgeneEHD1chr11:64645533chr11:64662681ENST00000320631-15489_500134535.0Calcium bindingOntology_term=ECO:0000269,ECO:0007744,ECO:0007744
HgeneEHD1chr11:64645533chr11:64662681ENST00000359393-37489_500134535.0Calcium bindingOntology_term=ECO:0000269,ECO:0007744,ECO:0007744
HgeneEHD1chr11:64645533chr11:64662914ENST00000320631-15489_500134535.0Calcium bindingOntology_term=ECO:0000269,ECO:0007744,ECO:0007744
HgeneEHD1chr11:64645533chr11:64662914ENST00000359393-37489_500134535.0Calcium bindingOntology_term=ECO:0000269,ECO:0007744,ECO:0007744
HgeneEHD1chr11:64645532chr11:64662681ENST00000320631-15198_227134535.0Coiled coilOntology_term=ECO:0000255
HgeneEHD1chr11:64645532chr11:64662681ENST00000359393-37198_227134535.0Coiled coilOntology_term=ECO:0000255
HgeneEHD1chr11:64645533chr11:64662681ENST00000320631-15198_227134535.0Coiled coilOntology_term=ECO:0000255
HgeneEHD1chr11:64645533chr11:64662681ENST00000359393-37198_227134535.0Coiled coilOntology_term=ECO:0000255
HgeneEHD1chr11:64645533chr11:64662914ENST00000320631-15198_227134535.0Coiled coilOntology_term=ECO:0000255
HgeneEHD1chr11:64645533chr11:64662914ENST00000359393-37198_227134535.0Coiled coilOntology_term=ECO:0000255
HgeneEHD1chr11:64645532chr11:64662681ENST00000320631-15444_532134535.0DomainEH
HgeneEHD1chr11:64645532chr11:64662681ENST00000320631-15476_511134535.0DomainEF-hand
HgeneEHD1chr11:64645532chr11:64662681ENST00000320631-1555_286134535.0DomainDynamin-type G
HgeneEHD1chr11:64645532chr11:64662681ENST00000359393-37444_532134535.0DomainEH
HgeneEHD1chr11:64645532chr11:64662681ENST00000359393-37476_511134535.0DomainEF-hand
HgeneEHD1chr11:64645532chr11:64662681ENST00000359393-3755_286134535.0DomainDynamin-type G
HgeneEHD1chr11:64645533chr11:64662681ENST00000320631-15444_532134535.0DomainEH
HgeneEHD1chr11:64645533chr11:64662681ENST00000320631-15476_511134535.0DomainEF-hand
HgeneEHD1chr11:64645533chr11:64662681ENST00000320631-1555_286134535.0DomainDynamin-type G
HgeneEHD1chr11:64645533chr11:64662681ENST00000359393-37444_532134535.0DomainEH
HgeneEHD1chr11:64645533chr11:64662681ENST00000359393-37476_511134535.0DomainEF-hand
HgeneEHD1chr11:64645533chr11:64662681ENST00000359393-3755_286134535.0DomainDynamin-type G
HgeneEHD1chr11:64645533chr11:64662914ENST00000320631-15444_532134535.0DomainEH
HgeneEHD1chr11:64645533chr11:64662914ENST00000320631-15476_511134535.0DomainEF-hand
HgeneEHD1chr11:64645533chr11:64662914ENST00000320631-1555_286134535.0DomainDynamin-type G
HgeneEHD1chr11:64645533chr11:64662914ENST00000359393-37444_532134535.0DomainEH
HgeneEHD1chr11:64645533chr11:64662914ENST00000359393-37476_511134535.0DomainEF-hand
HgeneEHD1chr11:64645533chr11:64662914ENST00000359393-3755_286134535.0DomainDynamin-type G
HgeneEHD1chr11:64645532chr11:64662681ENST00000320631-15153_156134535.0RegionG3 motif
HgeneEHD1chr11:64645532chr11:64662681ENST00000320631-15219_222134535.0RegionG4 motif
HgeneEHD1chr11:64645532chr11:64662681ENST00000320631-15243_243134535.0RegionG5 motif
HgeneEHD1chr11:64645532chr11:64662681ENST00000359393-37153_156134535.0RegionG3 motif
HgeneEHD1chr11:64645532chr11:64662681ENST00000359393-37219_222134535.0RegionG4 motif
HgeneEHD1chr11:64645532chr11:64662681ENST00000359393-37243_243134535.0RegionG5 motif
HgeneEHD1chr11:64645533chr11:64662681ENST00000320631-15153_156134535.0RegionG3 motif
HgeneEHD1chr11:64645533chr11:64662681ENST00000320631-15219_222134535.0RegionG4 motif
HgeneEHD1chr11:64645533chr11:64662681ENST00000320631-15243_243134535.0RegionG5 motif
HgeneEHD1chr11:64645533chr11:64662681ENST00000359393-37153_156134535.0RegionG3 motif
HgeneEHD1chr11:64645533chr11:64662681ENST00000359393-37219_222134535.0RegionG4 motif
HgeneEHD1chr11:64645533chr11:64662681ENST00000359393-37243_243134535.0RegionG5 motif
HgeneEHD1chr11:64645533chr11:64662914ENST00000320631-15153_156134535.0RegionG3 motif
HgeneEHD1chr11:64645533chr11:64662914ENST00000320631-15219_222134535.0RegionG4 motif
HgeneEHD1chr11:64645533chr11:64662914ENST00000320631-15243_243134535.0RegionG5 motif
HgeneEHD1chr11:64645533chr11:64662914ENST00000359393-37153_156134535.0RegionG3 motif
HgeneEHD1chr11:64645533chr11:64662914ENST00000359393-37219_222134535.0RegionG4 motif
HgeneEHD1chr11:64645533chr11:64662914ENST00000359393-37243_243134535.0RegionG5 motif


Top

Fusion Gene Sequence for EHD1-ATG2A


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 EHD1-ATG2A


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 EHD1-ATG2A


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 EHD1-ATG2A


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