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Center for Computational Systems Medicine level2
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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 Structure

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pLDDT scores

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Ramachandran Plot of Fusion Protein Structure

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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:ABCC5-DCUN1D1

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: ABCC5-DCUN1D1
FusionPDB ID: 296
FusionGDB2.0 ID: 296
HgeneTgene
Gene symbol

ABCC5

DCUN1D1

Gene ID

10057

54165

Gene nameATP binding cassette subfamily C member 5defective in cullin neddylation 1 domain containing 1
SynonymsABC33|EST277145|MOAT-C|MOATC|MRP5|SMRP|pABC11DCNL1|DCUN1L1|RP42|SCCRO|SCRO|Tes3
Cytomap

3q27.1

3q26.33

Type of geneprotein-codingprotein-coding
Descriptionmultidrug resistance-associated protein 5ATP-binding cassette, sub-family C (CFTR/MRP), member 5canalicular multispecific organic anion transporter Cmulti-specific organic anion transporter CDCN1-like protein 1DCN1, defective in cullin neddylation 1, domain containing 1DCUN1 domain-containing protein 1RP42 homologdefective in cullin neddylation protein 1-like protein 1squamous cell carcinoma-related oncogene
Modification date2020031320200327
UniProtAcc

O15440

Q96GG9

Ensembl transtripts involved in fusion geneENST idsENST00000334444, ENST00000382494, 
ENST00000392579, ENST00000265586, 
ENST00000427120, ENST00000446941, 
ENST00000492216, 		ENST00000292782, 
ENST00000469954, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score16 X 12 X 9=17284 X 4 X 3=48
# samples 156
** MAII scorelog2(15/1728*10)=-3.52606881166759
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(6/48*10)=0.321928094887362
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context (manual curation of fusion genes in FusionPDB)

PubMed: ABCC5 [Title/Abstract] AND DCUN1D1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)ABCC5(183705558)-DCUN1D1(182662961), # samples:2
Anticipated loss of major functional domain due to fusion event.ABCC5-DCUN1D1 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.
ABCC5-DCUN1D1 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.
ABCC5-DCUN1D1 seems lost the major protein functional domain in Hgene partner, which is a cell metabolism gene due to the frame-shifted ORF.
ABCC5-DCUN1D1 seems lost the major protein functional domain in Hgene partner, which is a IUPHAR drug target due to the frame-shifted ORF.
ABCC5-DCUN1D1 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
HgeneABCC5

GO:0042908

xenobiotic transport

10840050

HgeneABCC5

GO:0140115

export across plasma membrane

10840050


check buttonFusion gene breakpoints across ABCC5 (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 DCUN1D1 (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
ChimerDB4LUSCTCGA-56-5898-01AABCC5chr3

183705558

-DCUN1D1chr3

182662961

-
ChimerDB4LUSCTCGA-56-5898ABCC5chr3

183705558

-DCUN1D1chr3

182662961

-


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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)
ENST00000265586ABCC5chr3183705558-ENST00000292782DCUN1D1chr3182662961-770360312701229
ENST00000265586ABCC5chr3183705558-ENST00000469954DCUN1D1chr3182662961-74360312701229

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
ENST00000265586ENST00000292782ABCC5chr3183705558-DCUN1D1chr3182662961-0.0141759310.9858241
ENST00000265586ENST00000469954ABCC5chr3183705558-DCUN1D1chr3182662961-0.0583746880.94162524

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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

>296_296_1_ABCC5-DCUN1D1_ABCC5_chr3_183705558_ENST00000265586_DCUN1D1_chr3_182662961_ENST00000292782_length(amino acids)=229AA_BP=197
MKDIDIGKEYIIPSPGYRSVRERTSTSGTHRDREDSKFRRTRPLECQDALETAARAEGLSLDASMHSQLRILDEEHPKGKYHHGLSALKP
IRTTSKHQHPVDNAGLFSCMTFSWLSSLARVAHKKGELSMEDVWSLSKHESSDVNCRRLERLWQEELNEVGPDAASLRRVVWIFCRTRLI

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

>296_296_2_ABCC5-DCUN1D1_ABCC5_chr3_183705558_ENST00000265586_DCUN1D1_chr3_182662961_ENST00000469954_length(amino acids)=229AA_BP=197
MKDIDIGKEYIIPSPGYRSVRERTSTSGTHRDREDSKFRRTRPLECQDALETAARAEGLSLDASMHSQLRILDEEHPKGKYHHGLSALKP
IRTTSKHQHPVDNAGLFSCMTFSWLSSLARVAHKKGELSMEDVWSLSKHESSDVNCRRLERLWQEELNEVGPDAASLRRVVWIFCRTRLI

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

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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/chr3:183705558/chr3:182662961)
- 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
ABCC5

O15440

DCUN1D1

Q96GG9

FUNCTION: Acts as a multispecific organic anion pump which can transport nucleotide analogs. Heme transporter required for the translocation of cytosolic heme to the secretory pathway (PubMed:24836561). {ECO:0000269|PubMed:10840050, ECO:0000269|PubMed:24836561}.FUNCTION: Part of an E3 ubiquitin ligase complex for neddylation (PubMed:18826954). Promotes neddylation of cullin components of E3 cullin-RING ubiquitin ligase complexes (PubMed:26906416, PubMed:23201271, PubMed:19617556, PubMed:23401859). Acts by binding to cullin-RBX1 complexes in the cytoplasm and promoting their nuclear translocation, enhancing recruitment of E2-NEDD8 (UBE2M-NEDD8) thioester to the complex, and optimizing the orientation of proteins in the complex to allow efficient transfer of NEDD8 from the E2 to the cullin substrates. Involved in the release of inhibitory effets of CAND1 on cullin-RING ligase E3 complex assembly and activity (PubMed:25349211, PubMed:28581483). Acts also as an oncogene facilitating malignant transformation and carcinogenic progression (By similarity). {ECO:0000250|UniProtKB:Q9QZ73, ECO:0000269|PubMed:18826954, ECO:0000269|PubMed:19617556, ECO:0000269|PubMed:23201271, ECO:0000269|PubMed:23401859, ECO:0000269|PubMed:25349211, ECO:0000269|PubMed:26906416, ECO:0000269|PubMed:28581483}.

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
HgeneABCC5chr3:183705558chr3:182662961ENST00000334444-530179_199197.01438.0TransmembraneHelical
HgeneABCC5chr3:183705558chr3:182662961ENST00000382494-57179_199197.0533.3333333333334TransmembraneHelical
HgeneABCC5chr3:183705558chr3:182662961ENST00000392579-56179_199197.0226.0TransmembraneHelical

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneABCC5chr3:183705558chr3:182662961ENST00000334444-5301193_1427197.01438.0DomainABC transporter 2
HgeneABCC5chr3:183705558chr3:182662961ENST00000334444-530179_459197.01438.0DomainABC transmembrane type-1 1
HgeneABCC5chr3:183705558chr3:182662961ENST00000334444-530562_783197.01438.0DomainABC transporter 1
HgeneABCC5chr3:183705558chr3:182662961ENST00000334444-530859_1155197.01438.0DomainABC transmembrane type-1 2
HgeneABCC5chr3:183705558chr3:182662961ENST00000382494-571193_1427197.0533.3333333333334DomainABC transporter 2
HgeneABCC5chr3:183705558chr3:182662961ENST00000382494-57179_459197.0533.3333333333334DomainABC transmembrane type-1 1
HgeneABCC5chr3:183705558chr3:182662961ENST00000382494-57562_783197.0533.3333333333334DomainABC transporter 1
HgeneABCC5chr3:183705558chr3:182662961ENST00000382494-57859_1155197.0533.3333333333334DomainABC transmembrane type-1 2
HgeneABCC5chr3:183705558chr3:182662961ENST00000392579-561193_1427197.0226.0DomainABC transporter 2
HgeneABCC5chr3:183705558chr3:182662961ENST00000392579-56179_459197.0226.0DomainABC transmembrane type-1 1
HgeneABCC5chr3:183705558chr3:182662961ENST00000392579-56562_783197.0226.0DomainABC transporter 1
HgeneABCC5chr3:183705558chr3:182662961ENST00000392579-56859_1155197.0226.0DomainABC transmembrane type-1 2
HgeneABCC5chr3:183705558chr3:182662961ENST00000334444-5301227_1234197.01438.0Nucleotide bindingATP 2
HgeneABCC5chr3:183705558chr3:182662961ENST00000334444-530595_602197.01438.0Nucleotide bindingATP 1
HgeneABCC5chr3:183705558chr3:182662961ENST00000382494-571227_1234197.0533.3333333333334Nucleotide bindingATP 2
HgeneABCC5chr3:183705558chr3:182662961ENST00000382494-57595_602197.0533.3333333333334Nucleotide bindingATP 1
HgeneABCC5chr3:183705558chr3:182662961ENST00000392579-561227_1234197.0226.0Nucleotide bindingATP 2
HgeneABCC5chr3:183705558chr3:182662961ENST00000392579-56595_602197.0226.0Nucleotide bindingATP 1
HgeneABCC5chr3:183705558chr3:182662961ENST00000334444-5301018_1038197.01438.0TransmembraneHelical
HgeneABCC5chr3:183705558chr3:182662961ENST00000334444-5301104_1124197.01438.0TransmembraneHelical
HgeneABCC5chr3:183705558chr3:182662961ENST00000334444-5301127_1147197.01438.0TransmembraneHelical
HgeneABCC5chr3:183705558chr3:182662961ENST00000334444-530219_239197.01438.0TransmembraneHelical
HgeneABCC5chr3:183705558chr3:182662961ENST00000334444-530296_316197.01438.0TransmembraneHelical
HgeneABCC5chr3:183705558chr3:182662961ENST00000334444-530317_337197.01438.0TransmembraneHelical
HgeneABCC5chr3:183705558chr3:182662961ENST00000334444-530400_420197.01438.0TransmembraneHelical
HgeneABCC5chr3:183705558chr3:182662961ENST00000334444-530434_454197.01438.0TransmembraneHelical
HgeneABCC5chr3:183705558chr3:182662961ENST00000334444-530608_628197.01438.0TransmembraneHelical
HgeneABCC5chr3:183705558chr3:182662961ENST00000334444-530848_868197.01438.0TransmembraneHelical
HgeneABCC5chr3:183705558chr3:182662961ENST00000334444-530917_937197.01438.0TransmembraneHelical
HgeneABCC5chr3:183705558chr3:182662961ENST00000334444-530997_1017197.01438.0TransmembraneHelical
HgeneABCC5chr3:183705558chr3:182662961ENST00000382494-571018_1038197.0533.3333333333334TransmembraneHelical
HgeneABCC5chr3:183705558chr3:182662961ENST00000382494-571104_1124197.0533.3333333333334TransmembraneHelical
HgeneABCC5chr3:183705558chr3:182662961ENST00000382494-571127_1147197.0533.3333333333334TransmembraneHelical
HgeneABCC5chr3:183705558chr3:182662961ENST00000382494-57219_239197.0533.3333333333334TransmembraneHelical
HgeneABCC5chr3:183705558chr3:182662961ENST00000382494-57296_316197.0533.3333333333334TransmembraneHelical
HgeneABCC5chr3:183705558chr3:182662961ENST00000382494-57317_337197.0533.3333333333334TransmembraneHelical
HgeneABCC5chr3:183705558chr3:182662961ENST00000382494-57400_420197.0533.3333333333334TransmembraneHelical
HgeneABCC5chr3:183705558chr3:182662961ENST00000382494-57434_454197.0533.3333333333334TransmembraneHelical
HgeneABCC5chr3:183705558chr3:182662961ENST00000382494-57608_628197.0533.3333333333334TransmembraneHelical
HgeneABCC5chr3:183705558chr3:182662961ENST00000382494-57848_868197.0533.3333333333334TransmembraneHelical
HgeneABCC5chr3:183705558chr3:182662961ENST00000382494-57917_937197.0533.3333333333334TransmembraneHelical
HgeneABCC5chr3:183705558chr3:182662961ENST00000382494-57997_1017197.0533.3333333333334TransmembraneHelical
HgeneABCC5chr3:183705558chr3:182662961ENST00000392579-561018_1038197.0226.0TransmembraneHelical
HgeneABCC5chr3:183705558chr3:182662961ENST00000392579-561104_1124197.0226.0TransmembraneHelical
HgeneABCC5chr3:183705558chr3:182662961ENST00000392579-561127_1147197.0226.0TransmembraneHelical
HgeneABCC5chr3:183705558chr3:182662961ENST00000392579-56219_239197.0226.0TransmembraneHelical
HgeneABCC5chr3:183705558chr3:182662961ENST00000392579-56296_316197.0226.0TransmembraneHelical
HgeneABCC5chr3:183705558chr3:182662961ENST00000392579-56317_337197.0226.0TransmembraneHelical
HgeneABCC5chr3:183705558chr3:182662961ENST00000392579-56400_420197.0226.0TransmembraneHelical
HgeneABCC5chr3:183705558chr3:182662961ENST00000392579-56434_454197.0226.0TransmembraneHelical
HgeneABCC5chr3:183705558chr3:182662961ENST00000392579-56608_628197.0226.0TransmembraneHelical
HgeneABCC5chr3:183705558chr3:182662961ENST00000392579-56848_868197.0226.0TransmembraneHelical
HgeneABCC5chr3:183705558chr3:182662961ENST00000392579-56917_937197.0226.0TransmembraneHelical
HgeneABCC5chr3:183705558chr3:182662961ENST00000392579-56997_1017197.0226.0TransmembraneHelical
TgeneDCUN1D1chr3:183705558chr3:182662961ENST000002927825760_248233.33333333333334260.0DomainDCUN1
TgeneDCUN1D1chr3:183705558chr3:182662961ENST00000292782578_45233.33333333333334260.0DomainNote=UBA-like


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Fusion Protein Structures

check button PDB and CIF files of the predicted fusion proteins
* Here we show the 3D structure of the fusion proteins using Mol*. AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100. Model confidence is shown from the pLDDT values per residue. pLDDT corresponds to the model’s prediction of its score on the local Distance Difference Test. It is a measure of local accuracy (from AlphfaFold website). To color code individual residues, we transformed individual PDB files into CIF format.
Fusion protein PDB link (fusion AA seq ID in FusionPDB)HgeneHchrHbpHstrandTgeneTchrTbpTstrandAA seqLen(AA seq)
PDB file >>>349_ABCC5_183705558_DCUN1D1_182662961_ranked_0.pdbABCC5183705558183705558ENST00000469954DCUN1D1chr3182662961-
MKDIDIGKEYIIPSPGYRSVRERTSTSGTHRDREDSKFRRTRPLECQDALETAARAEGLSLDASMHSQLRILDEEHPKGKYHHGLSALKP
IRTTSKHQHPVDNAGLFSCMTFSWLSSLARVAHKKGELSMEDVWSLSKHESSDVNCRRLERLWQEELNEVGPDAASLRRVVWIFCRTRLI
229


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pLDDT score distribution

check button pLDDT score distribution of the predicted wild-type structures of two partner proteins from AlphaFold2
* AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100.
ABCC5_pLDDT.png
all structure
all structure
DCUN1D1_pLDDT.png
all structure
all structure

check button pLDDT score distribution of the predicted fusion protein structures from AlphaFold2
* AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100.
all structure


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Ramachandran Plot of Fusion Protein Structure


check button Ramachandran plot of the torsional angles - phi (φ)and psi (ψ) - of the residues (amino acids) contained in this fusion protein peptide.
Fusion AA seq ID in FusionPDB and their Ramachandran plots

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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
ABCC5
DCUN1D1


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 ABCC5-DCUN1D1


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 ABCC5-DCUN1D1


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