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Center for Computational Systems Medicine level1
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Fusion Gene Summary

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Fusion Gene Sample Information

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Fusion ORF Analysis

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Fusion Amino Acid Sequences

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Fusion Protein Functional Features

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Fusion Protein-Protein Interaction

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Related drugs with this fusion protein

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Related disease with this fusion protein

Fusion Protein:DERL1-ATAD2

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: DERL1-ATAD2
FusionPDB ID: 22343
FusionGDB2.0 ID: 22343
HgeneTgene
Gene symbol

DERL1

ATAD2

Gene ID

79139

29028

Gene namederlin 1ATPase family AAA domain containing 2
SynonymsDER-1|DER1|derlin-1ANCCA|CT137|PRO2000
Cytomap

8q24.13

8q24.13

Type of geneprotein-codingprotein-coding
Descriptionderlin-1DERtrin-1Der1-like domain family, member 1degradation in endoplasmic reticulum protein 1ATPase family AAA domain-containing protein 2AAA nuclear coregulator cancer-associated protein
Modification date2020032720200322
UniProtAcc

Q9BUN8

Q9ULI0

Ensembl transtripts involved in fusion geneENST idsENST00000259512, ENST00000405944, 
ENST00000419562, ENST00000519018, 
ENST00000523036, 
ENST00000521903, 
ENST00000534257, ENST00000287394, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score3 X 3 X 3=277 X 6 X 8=336
# samples 49
** MAII scorelog2(4/27*10)=0.567040592723894
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(9/336*10)=-1.90046432644909
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)

PubMed: DERL1 [Title/Abstract] AND ATAD2 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)DERL1(124054210)-ATAD2(124392917), # samples:1
Anticipated loss of major functional domain due to fusion event.DERL1-ATAD2 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
DERL1-ATAD2 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame 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
HgeneDERL1

GO:0030433

ubiquitin-dependent ERAD pathway

15215856|17872946

HgeneDERL1

GO:0030968

endoplasmic reticulum unfolded protein response

15215856

HgeneDERL1

GO:0030970

retrograde protein transport, ER to cytosol

15215856

HgeneDERL1

GO:0031398

positive regulation of protein ubiquitination

24089527

TgeneATAD2

GO:0045893

positive regulation of transcription, DNA-templated

17998543


check buttonFusion gene breakpoints across DERL1 (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 ATAD2 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure


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Fusion Gene Sample Information

check buttonFusion gene information from FusionGDB2.0.
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
ChimerDB4STADTCGA-BR-A4QI-01ADERL1chr8

124054210

-ATAD2chr8

124392917

-


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Fusion ORF Analysis


check buttonFusion information from ORFfinder translation from full-length transcript sequence from FusionPDB.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)
BP loci
(transcript)
Predicted start
(transcript)
Predicted stop
(transcript)
Seq length
(amino acids)
ENST00000259512DERL1chr8124054210-ENST00000287394ATAD2chr8124392917-574045427144551394
ENST00000405944DERL1chr8124054210-ENST00000287394ATAD2chr8124392917-5439153041541384
ENST00000419562DERL1chr8124054210-ENST00000287394ATAD2chr8124392917-561933315043341394

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
ENST00000259512ENST00000287394DERL1chr8124054210-ATAD2chr8124392917-0.0001813060.99981874
ENST00000405944ENST00000287394DERL1chr8124054210-ATAD2chr8124392917-0.0001469270.999853
ENST00000419562ENST00000287394DERL1chr8124054210-ATAD2chr8124392917-0.0001679990.9998319

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Fusion Amino Acid Sequences


check button For individual full-length fusion transcript sequence from FusionPDB, we ran ORFfinder and chose the longest ORF among the all predicted ones.
>FusionGDB ID_FusionGDB isoform ID_FGname_Hgene_Hchr_Hbp_Henst_Tgene_Tchr_Tbp_Tenst_length(fusion AA) seq_BP

>22343_22343_1_DERL1-ATAD2_DERL1_chr8_124054210_ENST00000259512_ATAD2_chr8_124392917_ENST00000287394_length(amino acids)=1394AA_BP=61
MCILATCGSKMSDIGDWFRSIPAITRYWFAATVAVPLVGKLGLISPAYLFLWPEAFLYRFQDGSSVKEVETYHRTRALRSLRKDAQNSSD
SSFEKNVEITEQLANGRHFTRQLARQQADKKKEEHREDKVIPVTRSLRARNIVQSTEHLHEDNGDVEVRRSCRIRSRYSGVNQSMLFDKL
ITNTAEAVLQKMDDMKKMRRQRMRELEDLGVFNETEESNLNMYTRGKQKDIQRTDEETTDNQEGSVESSEEGEDQEHEDDGEDEDDEDDD
DDDDDDDDDDDEDDEDEEDGEEENQKRYYLRQRKATVYYQAPLEKPRHQRKPNIFYSGPASPARPRYRLSSAGPRSPYCKRMNRRRHAIH
SSDSTSSSSSEDEQHFERRRKRSRNRAINRCLPLNFRKDELKGIYKDRMKIGASLADVDPMQLDSSVRFDSVGGLSNHIAALKEMVVFPL
LYPEVFEKFKIQPPRGCLFYGPPGTGKTLVARALANECSQGDKRVAFFMRKGADCLSKWVGESERQLRLLFDQAYQMRPSIIFFDEIDGL
APVRSSRQDQIHSSIVSTLLALMDGLDSRGEIVVIGATNRLDSIDPALRRPGRFDREFLFSLPDKEARKEILKIHTRDWNPKPLDTFLEE
LAENCVGYCGADIKSICAEAALCALRRRYPQIYTTSEKLQLDLSSINISAKDFEVAMQKMIPASQRAVTSPGQALSTVVKPLLQNTVDKI
LEALQRVFPHAEFRTNKTLDSDISCPLLESDLAYSDDDVPSVYENGLSQKSSHKAKDNFNFLHLNRNACYQPMSFRPRILIVGEPGFGQG
SHLAPAVIHALEKFTVYTLDIPVLFGVSTTSPEETCAQVIREAKRTAPSIVYVPHIHVWWEIVGPTLKATFTTLLQNIPSFAPVLLLATS
DKPHSALPEEVQELFIRDYGEIFNVQLPDKEERTKFFEDLILKQAAKPPISKKKAVLQALEVLPVAPPPEPRSLTAEEVKRLEEQEEDTF
RELRIFLRNVTHRLAIDKRFRVFTKPVDPDEVPDYVTVIKQPMDLSSVISKIDLHKYLTVKDYLRDIDLICSNALEYNPDRDPGDRLIRH
RACALRDTAYAIIKEELDEDFEQLCEEIQESRKKRGCSSSKYAPSYYHVMPKQNSTLVGDKRSDPEQNEKLKTPSTPVACSTPAQLKRKI
RKKSNWYLGTIKKRRKISQAKDDSQNAIDHKIESDTEETQDTSVDHNETGNTGESSVEENEKQQNASESKLELRNNSNTCNIENELEDSR
KTTACTELRDKIACNGDASSSQIIHISDENEGKEMCVLRMTRARRSQVEQQQLITVEKALAILSQPTPSLVVDHERLKNLLKTVVKKSQN

--------------------------------------------------------------

>22343_22343_2_DERL1-ATAD2_DERL1_chr8_124054210_ENST00000405944_ATAD2_chr8_124392917_ENST00000287394_length(amino acids)=1384AA_BP=51
MSDIGDWFRSIPAITRYWFAATVAVPLVGKLGLISPAYLFLWPEAFLYRFQDGSSVKEVETYHRTRALRSLRKDAQNSSDSSFEKNVEIT
EQLANGRHFTRQLARQQADKKKEEHREDKVIPVTRSLRARNIVQSTEHLHEDNGDVEVRRSCRIRSRYSGVNQSMLFDKLITNTAEAVLQ
KMDDMKKMRRQRMRELEDLGVFNETEESNLNMYTRGKQKDIQRTDEETTDNQEGSVESSEEGEDQEHEDDGEDEDDEDDDDDDDDDDDDD
DEDDEDEEDGEEENQKRYYLRQRKATVYYQAPLEKPRHQRKPNIFYSGPASPARPRYRLSSAGPRSPYCKRMNRRRHAIHSSDSTSSSSS
EDEQHFERRRKRSRNRAINRCLPLNFRKDELKGIYKDRMKIGASLADVDPMQLDSSVRFDSVGGLSNHIAALKEMVVFPLLYPEVFEKFK
IQPPRGCLFYGPPGTGKTLVARALANECSQGDKRVAFFMRKGADCLSKWVGESERQLRLLFDQAYQMRPSIIFFDEIDGLAPVRSSRQDQ
IHSSIVSTLLALMDGLDSRGEIVVIGATNRLDSIDPALRRPGRFDREFLFSLPDKEARKEILKIHTRDWNPKPLDTFLEELAENCVGYCG
ADIKSICAEAALCALRRRYPQIYTTSEKLQLDLSSINISAKDFEVAMQKMIPASQRAVTSPGQALSTVVKPLLQNTVDKILEALQRVFPH
AEFRTNKTLDSDISCPLLESDLAYSDDDVPSVYENGLSQKSSHKAKDNFNFLHLNRNACYQPMSFRPRILIVGEPGFGQGSHLAPAVIHA
LEKFTVYTLDIPVLFGVSTTSPEETCAQVIREAKRTAPSIVYVPHIHVWWEIVGPTLKATFTTLLQNIPSFAPVLLLATSDKPHSALPEE
VQELFIRDYGEIFNVQLPDKEERTKFFEDLILKQAAKPPISKKKAVLQALEVLPVAPPPEPRSLTAEEVKRLEEQEEDTFRELRIFLRNV
THRLAIDKRFRVFTKPVDPDEVPDYVTVIKQPMDLSSVISKIDLHKYLTVKDYLRDIDLICSNALEYNPDRDPGDRLIRHRACALRDTAY
AIIKEELDEDFEQLCEEIQESRKKRGCSSSKYAPSYYHVMPKQNSTLVGDKRSDPEQNEKLKTPSTPVACSTPAQLKRKIRKKSNWYLGT
IKKRRKISQAKDDSQNAIDHKIESDTEETQDTSVDHNETGNTGESSVEENEKQQNASESKLELRNNSNTCNIENELEDSRKTTACTELRD
KIACNGDASSSQIIHISDENEGKEMCVLRMTRARRSQVEQQQLITVEKALAILSQPTPSLVVDHERLKNLLKTVVKKSQNYNIFQLENLY

--------------------------------------------------------------

>22343_22343_3_DERL1-ATAD2_DERL1_chr8_124054210_ENST00000419562_ATAD2_chr8_124392917_ENST00000287394_length(amino acids)=1394AA_BP=61
MCILATCGSKMSDIGDWFRSIPAITRYWFAATVAVPLVGKLGLISPAYLFLWPEAFLYRFQDGSSVKEVETYHRTRALRSLRKDAQNSSD
SSFEKNVEITEQLANGRHFTRQLARQQADKKKEEHREDKVIPVTRSLRARNIVQSTEHLHEDNGDVEVRRSCRIRSRYSGVNQSMLFDKL
ITNTAEAVLQKMDDMKKMRRQRMRELEDLGVFNETEESNLNMYTRGKQKDIQRTDEETTDNQEGSVESSEEGEDQEHEDDGEDEDDEDDD
DDDDDDDDDDDEDDEDEEDGEEENQKRYYLRQRKATVYYQAPLEKPRHQRKPNIFYSGPASPARPRYRLSSAGPRSPYCKRMNRRRHAIH
SSDSTSSSSSEDEQHFERRRKRSRNRAINRCLPLNFRKDELKGIYKDRMKIGASLADVDPMQLDSSVRFDSVGGLSNHIAALKEMVVFPL
LYPEVFEKFKIQPPRGCLFYGPPGTGKTLVARALANECSQGDKRVAFFMRKGADCLSKWVGESERQLRLLFDQAYQMRPSIIFFDEIDGL
APVRSSRQDQIHSSIVSTLLALMDGLDSRGEIVVIGATNRLDSIDPALRRPGRFDREFLFSLPDKEARKEILKIHTRDWNPKPLDTFLEE
LAENCVGYCGADIKSICAEAALCALRRRYPQIYTTSEKLQLDLSSINISAKDFEVAMQKMIPASQRAVTSPGQALSTVVKPLLQNTVDKI
LEALQRVFPHAEFRTNKTLDSDISCPLLESDLAYSDDDVPSVYENGLSQKSSHKAKDNFNFLHLNRNACYQPMSFRPRILIVGEPGFGQG
SHLAPAVIHALEKFTVYTLDIPVLFGVSTTSPEETCAQVIREAKRTAPSIVYVPHIHVWWEIVGPTLKATFTTLLQNIPSFAPVLLLATS
DKPHSALPEEVQELFIRDYGEIFNVQLPDKEERTKFFEDLILKQAAKPPISKKKAVLQALEVLPVAPPPEPRSLTAEEVKRLEEQEEDTF
RELRIFLRNVTHRLAIDKRFRVFTKPVDPDEVPDYVTVIKQPMDLSSVISKIDLHKYLTVKDYLRDIDLICSNALEYNPDRDPGDRLIRH
RACALRDTAYAIIKEELDEDFEQLCEEIQESRKKRGCSSSKYAPSYYHVMPKQNSTLVGDKRSDPEQNEKLKTPSTPVACSTPAQLKRKI
RKKSNWYLGTIKKRRKISQAKDDSQNAIDHKIESDTEETQDTSVDHNETGNTGESSVEENEKQQNASESKLELRNNSNTCNIENELEDSR
KTTACTELRDKIACNGDASSSQIIHISDENEGKEMCVLRMTRARRSQVEQQQLITVEKALAILSQPTPSLVVDHERLKNLLKTVVKKSQN

--------------------------------------------------------------

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Fusion Protein Functional Features


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/chr8:124054210/chr8:124392917)
- 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
DERL1

Q9BUN8

ATAD2

Q9ULI0

FUNCTION: Functional component of endoplasmic reticulum-associated degradation (ERAD) for misfolded lumenal proteins. May act by forming a channel that allows the retrotranslocation of misfolded proteins into the cytosol where they are ubiquitinated and degraded by the proteasome. May mediate the interaction between VCP and the misfolded protein (PubMed:15215856). Also involved in endoplasmic reticulum stress-induced pre-emptive quality control, a mechanism that selectively attenuates the translocation of newly synthesized proteins into the endoplasmic reticulum and reroutes them to the cytosol for proteasomal degradation (PubMed:26565908). By controlling the steady-state expression of the IGF1R receptor, indirectly regulates the insulin-like growth factor receptor signaling pathway (PubMed:26692333). {ECO:0000269|PubMed:15215856, ECO:0000269|PubMed:26565908, ECO:0000269|PubMed:26692333}.; FUNCTION: (Microbial infection) In case of infection by cytomegaloviruses, it plays a central role in the export from the ER and subsequent degradation of MHC class I heavy chains via its interaction with US11 viral protein, which recognizes and associates with MHC class I heavy chains. Also participates in the degradation process of misfolded cytomegalovirus US2 protein. {ECO:0000269|PubMed:15215855, ECO:0000269|PubMed:15215856}.

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.
- Retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneDERL1chr8:124054210chr8:124392917ENST00000259512-182_2251.0252.0Topological domainCytoplasmic
HgeneDERL1chr8:124054210chr8:124392917ENST00000405944-182_2251.0232.0Topological domainCytoplasmic
HgeneDERL1chr8:124054210chr8:124392917ENST00000259512-1823_4351.0252.0TransmembraneHelical%3B Name%3D1
HgeneDERL1chr8:124054210chr8:124392917ENST00000405944-1823_4351.0232.0TransmembraneHelical%3B Name%3D1
TgeneATAD2chr8:124054210chr8:124392917ENST000002873940281086_111257.01391.0Coiled coilOntology_term=ECO:0000255
TgeneATAD2chr8:124054210chr8:124392917ENST00000287394028970_99457.01391.0Coiled coilOntology_term=ECO:0000255
TgeneATAD2chr8:124054210chr8:124392917ENST00000287394028250_28557.01391.0Compositional biasNote=Asp-rich
TgeneATAD2chr8:124054210chr8:124392917ENST00000287394028357_36657.01391.0Compositional biasNote=Poly-Ser
TgeneATAD2chr8:124054210chr8:124392917ENST000002873940281001_107157.01391.0DomainBromo
TgeneATAD2chr8:124054210chr8:124392917ENST00000287394028467_47457.01391.0Nucleotide bindingATP

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneDERL1chr8:124054210chr8:124392917ENST00000259512-18127_15451.0252.0Topological domainLumenal
HgeneDERL1chr8:124054210chr8:124392917ENST00000259512-18176_25151.0252.0Topological domainCytoplasmic
HgeneDERL1chr8:124054210chr8:124392917ENST00000259512-1844_5951.0252.0Topological domainLumenal
HgeneDERL1chr8:124054210chr8:124392917ENST00000259512-1881_10551.0252.0Topological domainCytoplasmic
HgeneDERL1chr8:124054210chr8:124392917ENST00000405944-18127_15451.0232.0Topological domainLumenal
HgeneDERL1chr8:124054210chr8:124392917ENST00000405944-18176_25151.0232.0Topological domainCytoplasmic
HgeneDERL1chr8:124054210chr8:124392917ENST00000405944-1844_5951.0232.0Topological domainLumenal
HgeneDERL1chr8:124054210chr8:124392917ENST00000405944-1881_10551.0232.0Topological domainCytoplasmic
HgeneDERL1chr8:124054210chr8:124392917ENST00000259512-18106_12651.0252.0TransmembraneHelical%3B Name%3D3
HgeneDERL1chr8:124054210chr8:124392917ENST00000259512-18155_17551.0252.0TransmembraneHelical%3B Name%3D4
HgeneDERL1chr8:124054210chr8:124392917ENST00000259512-1860_8051.0252.0TransmembraneHelical%3B Name%3D2
HgeneDERL1chr8:124054210chr8:124392917ENST00000405944-18106_12651.0232.0TransmembraneHelical%3B Name%3D3
HgeneDERL1chr8:124054210chr8:124392917ENST00000405944-18155_17551.0232.0TransmembraneHelical%3B Name%3D4
HgeneDERL1chr8:124054210chr8:124392917ENST00000405944-1860_8051.0232.0TransmembraneHelical%3B Name%3D2


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Fusion Protein-Protein Interaction


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 from validated records (BIOGRID-3.4.160)
GenePPI interactors


check button Protein-protein interactors based on sequence similarity (STRING)
GeneSTRING network
DERL1
ATAD2


check button - Retained interactions in fusion protein (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost interactions due to fusion (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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Related Drugs to DERL1-ATAD2


check button Drugs used for this fusion-positive patient.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDrugSourcePMID

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Related Diseases to DERL1-ATAD2


check button Diseases that have this fusion gene.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDiseaseSourcePMID

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