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:ATG5-TMEM200A (FusionGDB2 ID:7606)

Fusion Gene Summary for ATG5-TMEM200A

check button Fusion gene summary
Fusion gene informationFusion gene name: ATG5-TMEM200A
Fusion gene ID: 7606
HgeneTgene
Gene symbol

ATG5

TMEM200A

Gene ID

9474

114801

Gene nameautophagy related 5transmembrane protein 200A
SynonymsAPG5|APG5-LIKE|APG5L|ASP|SCAR25|hAPG5KIAA1913|TTMA|TTMC
Cytomap

6q21

6q23.1

Type of geneprotein-codingprotein-coding
Descriptionautophagy protein 5APG5 autophagy 5-likeATG5 autophagy related 5 homologapoptosis-specific proteintransmembrane protein 200Atwo transmembrane C
Modification date2020031320200313
UniProtAcc

Q9H1Y0

.
Ensembl transtripts involved in fusion geneENST00000360666, ENST00000369070, 
ENST00000369076, ENST00000343245, 
ENST00000475645, 		ENST00000296978, 
ENST00000392429, ENST00000545622, 
Fusion gene scores* DoF score25 X 16 X 9=36003 X 4 X 2=24
# samples 294
** MAII scorelog2(29/3600*10)=-3.6338721012021
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(4/24*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: ATG5 [Title/Abstract] AND TMEM200A [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointATG5(106773401)-TMEM200A(130761552), # samples:2
ATG5(106773401)-TMEM200A(130706318), # samples:2
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 ATG5 (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 TMEM200A (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
ChimerDB4BRCATCGA-AR-A1AU-01AATG5chr6

106773401

-TMEM200Achr6

130706318

+
ChimerDB4BRCATCGA-AR-A1AU-01AATG5chr6

106773401

-TMEM200Achr6

130761552

+


Top

Fusion Gene ORF analysis for ATG5-TMEM200A

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
5UTR-5UTRENST00000360666ENST00000296978ATG5chr6

106773401

-TMEM200Achr6

130706318

+
5UTR-5UTRENST00000360666ENST00000296978ATG5chr6

106773401

-TMEM200Achr6

130761552

+
5UTR-5UTRENST00000360666ENST00000392429ATG5chr6

106773401

-TMEM200Achr6

130761552

+
5UTR-5UTRENST00000360666ENST00000545622ATG5chr6

106773401

-TMEM200Achr6

130761552

+
5UTR-5UTRENST00000369070ENST00000296978ATG5chr6

106773401

-TMEM200Achr6

130706318

+
5UTR-5UTRENST00000369070ENST00000296978ATG5chr6

106773401

-TMEM200Achr6

130761552

+
5UTR-5UTRENST00000369070ENST00000392429ATG5chr6

106773401

-TMEM200Achr6

130761552

+
5UTR-5UTRENST00000369070ENST00000545622ATG5chr6

106773401

-TMEM200Achr6

130761552

+
5UTR-5UTRENST00000369076ENST00000296978ATG5chr6

106773401

-TMEM200Achr6

130706318

+
5UTR-5UTRENST00000369076ENST00000296978ATG5chr6

106773401

-TMEM200Achr6

130761552

+
5UTR-5UTRENST00000369076ENST00000392429ATG5chr6

106773401

-TMEM200Achr6

130761552

+
5UTR-5UTRENST00000369076ENST00000545622ATG5chr6

106773401

-TMEM200Achr6

130761552

+
5UTR-intronENST00000360666ENST00000392429ATG5chr6

106773401

-TMEM200Achr6

130706318

+
5UTR-intronENST00000360666ENST00000545622ATG5chr6

106773401

-TMEM200Achr6

130706318

+
5UTR-intronENST00000369070ENST00000392429ATG5chr6

106773401

-TMEM200Achr6

130706318

+
5UTR-intronENST00000369070ENST00000545622ATG5chr6

106773401

-TMEM200Achr6

130706318

+
5UTR-intronENST00000369076ENST00000392429ATG5chr6

106773401

-TMEM200Achr6

130706318

+
5UTR-intronENST00000369076ENST00000545622ATG5chr6

106773401

-TMEM200Achr6

130706318

+
intron-5UTRENST00000343245ENST00000296978ATG5chr6

106773401

-TMEM200Achr6

130706318

+
intron-5UTRENST00000343245ENST00000296978ATG5chr6

106773401

-TMEM200Achr6

130761552

+
intron-5UTRENST00000343245ENST00000392429ATG5chr6

106773401

-TMEM200Achr6

130761552

+
intron-5UTRENST00000343245ENST00000545622ATG5chr6

106773401

-TMEM200Achr6

130761552

+
intron-5UTRENST00000475645ENST00000296978ATG5chr6

106773401

-TMEM200Achr6

130706318

+
intron-5UTRENST00000475645ENST00000296978ATG5chr6

106773401

-TMEM200Achr6

130761552

+
intron-5UTRENST00000475645ENST00000392429ATG5chr6

106773401

-TMEM200Achr6

130761552

+
intron-5UTRENST00000475645ENST00000545622ATG5chr6

106773401

-TMEM200Achr6

130761552

+
intron-intronENST00000343245ENST00000392429ATG5chr6

106773401

-TMEM200Achr6

130706318

+
intron-intronENST00000343245ENST00000545622ATG5chr6

106773401

-TMEM200Achr6

130706318

+
intron-intronENST00000475645ENST00000392429ATG5chr6

106773401

-TMEM200Achr6

130706318

+
intron-intronENST00000475645ENST00000545622ATG5chr6

106773401

-TMEM200Achr6

130706318

+

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 ATG5-TMEM200A


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)
ATG5chr6106773400-TMEM200Achr6130761551+0.0004778970.9995221
ATG5chr6106773400-TMEM200Achr6130706317+0.0003540280.99964595
ATG5chr6106773400-TMEM200Achr6130761551+0.0004778970.9995221
ATG5chr6106773400-TMEM200Achr6130706317+0.0003540280.99964595

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.
genomic feature of top 1%

Top

Fusion Protein Features for ATG5-TMEM200A


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/:106773401/:130761552)
- 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
ATG5

Q9H1Y0

.
FUNCTION: Involved in autophagic vesicle formation. Conjugation with ATG12, through a ubiquitin-like conjugating system involving ATG7 as an E1-like activating enzyme and ATG10 as an E2-like conjugating enzyme, is essential for its function. The ATG12-ATG5 conjugate acts as an E3-like enzyme which is required for lipidation of ATG8 family proteins and their association to the vesicle membranes. Involved in mitochondrial quality control after oxidative damage, and in subsequent cellular longevity. Plays a critical role in multiple aspects of lymphocyte development and is essential for both B and T lymphocyte survival and proliferation. Required for optimal processing and presentation of antigens for MHC II. Involved in the maintenance of axon morphology and membrane structures, as well as in normal adipocyte differentiation. Promotes primary ciliogenesis through removal of OFD1 from centriolar satellites and degradation of IFT20 via the autophagic pathway. {ECO:0000250|UniProtKB:Q99J83, ECO:0000269|PubMed:12207896, ECO:0000269|PubMed:20580051, ECO:0000269|PubMed:22170153, ECO:0000269|PubMed:26812546}.; FUNCTION: May play an important role in the apoptotic process, possibly within the modified cytoskeleton. Its expression is a relatively late event in the apoptotic process, occurring downstream of caspase activity. Plays a crucial role in IFN-gamma-induced autophagic cell death by interacting with FADD. {ECO:0000269|PubMed:15778222, ECO:0000269|PubMed:7796880}.; FUNCTION: (Microbial infection) May act as a proviral factor. In association with ATG12, negatively regulates the innate antiviral immune response by impairing the type I IFN production pathway upon vesicular stomatitis virus (VSV) infection (PubMed:17709747). Required for the translation of incoming hepatitis C virus (HCV) RNA and, thereby, for initiation of HCV replication, but not required once infection is established (PubMed:19666601). {ECO:0000269|PubMed:17709747, ECO:0000269|PubMed:19666601}.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


Top

Fusion Gene Sequence for ATG5-TMEM200A


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 ATG5-TMEM200A


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 ATG5-TMEM200A


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 ATG5-TMEM200A


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