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:ABCB8-ABCB8 (FusionGDB2 ID:217)

Fusion Gene Summary for ABCB8-ABCB8

check button Fusion gene summary
Fusion gene informationFusion gene name: ABCB8-ABCB8
Fusion gene ID: 217
HgeneTgene
Gene symbol

ABCB8

ABCB8

Gene ID

11194

11194

Gene nameATP binding cassette subfamily B member 8ATP binding cassette subfamily B member 8
SynonymsEST328128|M-ABC1|MABC1|MITOSUREST328128|M-ABC1|MABC1|MITOSUR
Cytomap

7q36.1

7q36.1

Type of geneprotein-codingprotein-coding
Descriptionmitochondrial potassium channel ATP-binding subunitATP-binding cassette sub-family B member 8, mitochondrialATP-binding cassette, sub-family B (MDR/TAP), member 8mitochondrial ABC proteinmitochondrial ATP-binding cassette 1mitochondrial sulfonylurea-mitochondrial potassium channel ATP-binding subunitATP-binding cassette sub-family B member 8, mitochondrialATP-binding cassette, sub-family B (MDR/TAP), member 8mitochondrial ABC proteinmitochondrial ATP-binding cassette 1mitochondrial sulfonylurea-
Modification date2020031320200313
UniProtAcc

Q9NUT2

Q9NUT2

Ensembl transtripts involved in fusion geneENST00000356058, ENST00000297504, 
ENST00000358849, ENST00000498578, 
ENST00000542328, ENST00000477092, 
ENST00000477719, ENST00000493338, 
ENST00000358849, ENST00000493338, 
ENST00000297504, ENST00000356058, 
ENST00000477092, ENST00000477719, 
ENST00000498578, ENST00000542328, 
Fusion gene scores* DoF score4 X 4 X 5=803 X 4 X 3=36
# samples 54
** MAII scorelog2(5/80*10)=-0.678071905112638
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: ABCB8 [Title/Abstract] AND ABCB8 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointABCB8(150742435)-ABCB8(150730827), # samples:1
Anticipated loss of major functional domain due to fusion event.ABCB8-ABCB8 seems lost the major protein functional domain in Hgene partner, which is a IUPHAR drug target due to the frame-shifted ORF.
ABCB8-ABCB8 seems lost the major protein functional domain in Tgene partner, which is a IUPHAR drug target 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
HgeneABCB8

GO:0071805

potassium ion transmembrane transport

31435016

TgeneABCB8

GO:0071805

potassium ion transmembrane transport

31435016


check buttonFusion gene breakpoints across ABCB8 (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 ABCB8 (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
ChiTaRS5.0N/ABP369304ABCB8chr7

150742435

+ABCB8chr7

150730827

+


Top

Fusion Gene ORF analysis for ABCB8-ABCB8

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
3UTR-3CDSENST00000356058ENST00000358849ABCB8chr7

150742435

+ABCB8chr7

150730827

+
3UTR-3UTRENST00000356058ENST00000493338ABCB8chr7

150742435

+ABCB8chr7

150730827

+
3UTR-intronENST00000356058ENST00000297504ABCB8chr7

150742435

+ABCB8chr7

150730827

+
3UTR-intronENST00000356058ENST00000356058ABCB8chr7

150742435

+ABCB8chr7

150730827

+
3UTR-intronENST00000356058ENST00000477092ABCB8chr7

150742435

+ABCB8chr7

150730827

+
3UTR-intronENST00000356058ENST00000477719ABCB8chr7

150742435

+ABCB8chr7

150730827

+
3UTR-intronENST00000356058ENST00000498578ABCB8chr7

150742435

+ABCB8chr7

150730827

+
3UTR-intronENST00000356058ENST00000542328ABCB8chr7

150742435

+ABCB8chr7

150730827

+
5CDS-3UTRENST00000297504ENST00000493338ABCB8chr7

150742435

+ABCB8chr7

150730827

+
5CDS-3UTRENST00000358849ENST00000493338ABCB8chr7

150742435

+ABCB8chr7

150730827

+
5CDS-3UTRENST00000498578ENST00000493338ABCB8chr7

150742435

+ABCB8chr7

150730827

+
5CDS-3UTRENST00000542328ENST00000493338ABCB8chr7

150742435

+ABCB8chr7

150730827

+
5CDS-intronENST00000297504ENST00000297504ABCB8chr7

150742435

+ABCB8chr7

150730827

+
5CDS-intronENST00000297504ENST00000356058ABCB8chr7

150742435

+ABCB8chr7

150730827

+
5CDS-intronENST00000297504ENST00000477092ABCB8chr7

150742435

+ABCB8chr7

150730827

+
5CDS-intronENST00000297504ENST00000477719ABCB8chr7

150742435

+ABCB8chr7

150730827

+
5CDS-intronENST00000297504ENST00000498578ABCB8chr7

150742435

+ABCB8chr7

150730827

+
5CDS-intronENST00000297504ENST00000542328ABCB8chr7

150742435

+ABCB8chr7

150730827

+
5CDS-intronENST00000358849ENST00000297504ABCB8chr7

150742435

+ABCB8chr7

150730827

+
5CDS-intronENST00000358849ENST00000356058ABCB8chr7

150742435

+ABCB8chr7

150730827

+
5CDS-intronENST00000358849ENST00000477092ABCB8chr7

150742435

+ABCB8chr7

150730827

+
5CDS-intronENST00000358849ENST00000477719ABCB8chr7

150742435

+ABCB8chr7

150730827

+
5CDS-intronENST00000358849ENST00000498578ABCB8chr7

150742435

+ABCB8chr7

150730827

+
5CDS-intronENST00000358849ENST00000542328ABCB8chr7

150742435

+ABCB8chr7

150730827

+
5CDS-intronENST00000498578ENST00000297504ABCB8chr7

150742435

+ABCB8chr7

150730827

+
5CDS-intronENST00000498578ENST00000356058ABCB8chr7

150742435

+ABCB8chr7

150730827

+
5CDS-intronENST00000498578ENST00000477092ABCB8chr7

150742435

+ABCB8chr7

150730827

+
5CDS-intronENST00000498578ENST00000477719ABCB8chr7

150742435

+ABCB8chr7

150730827

+
5CDS-intronENST00000498578ENST00000498578ABCB8chr7

150742435

+ABCB8chr7

150730827

+
5CDS-intronENST00000498578ENST00000542328ABCB8chr7

150742435

+ABCB8chr7

150730827

+
5CDS-intronENST00000542328ENST00000297504ABCB8chr7

150742435

+ABCB8chr7

150730827

+
5CDS-intronENST00000542328ENST00000356058ABCB8chr7

150742435

+ABCB8chr7

150730827

+
5CDS-intronENST00000542328ENST00000477092ABCB8chr7

150742435

+ABCB8chr7

150730827

+
5CDS-intronENST00000542328ENST00000477719ABCB8chr7

150742435

+ABCB8chr7

150730827

+
5CDS-intronENST00000542328ENST00000498578ABCB8chr7

150742435

+ABCB8chr7

150730827

+
5CDS-intronENST00000542328ENST00000542328ABCB8chr7

150742435

+ABCB8chr7

150730827

+
Frame-shiftENST00000297504ENST00000358849ABCB8chr7

150742435

+ABCB8chr7

150730827

+
Frame-shiftENST00000358849ENST00000358849ABCB8chr7

150742435

+ABCB8chr7

150730827

+
Frame-shiftENST00000498578ENST00000358849ABCB8chr7

150742435

+ABCB8chr7

150730827

+
Frame-shiftENST00000542328ENST00000358849ABCB8chr7

150742435

+ABCB8chr7

150730827

+
intron-3CDSENST00000477092ENST00000358849ABCB8chr7

150742435

+ABCB8chr7

150730827

+
intron-3CDSENST00000477719ENST00000358849ABCB8chr7

150742435

+ABCB8chr7

150730827

+
intron-3CDSENST00000493338ENST00000358849ABCB8chr7

150742435

+ABCB8chr7

150730827

+
intron-3UTRENST00000477092ENST00000493338ABCB8chr7

150742435

+ABCB8chr7

150730827

+
intron-3UTRENST00000477719ENST00000493338ABCB8chr7

150742435

+ABCB8chr7

150730827

+
intron-3UTRENST00000493338ENST00000493338ABCB8chr7

150742435

+ABCB8chr7

150730827

+
intron-intronENST00000477092ENST00000297504ABCB8chr7

150742435

+ABCB8chr7

150730827

+
intron-intronENST00000477092ENST00000356058ABCB8chr7

150742435

+ABCB8chr7

150730827

+
intron-intronENST00000477092ENST00000477092ABCB8chr7

150742435

+ABCB8chr7

150730827

+
intron-intronENST00000477092ENST00000477719ABCB8chr7

150742435

+ABCB8chr7

150730827

+
intron-intronENST00000477092ENST00000498578ABCB8chr7

150742435

+ABCB8chr7

150730827

+
intron-intronENST00000477092ENST00000542328ABCB8chr7

150742435

+ABCB8chr7

150730827

+
intron-intronENST00000477719ENST00000297504ABCB8chr7

150742435

+ABCB8chr7

150730827

+
intron-intronENST00000477719ENST00000356058ABCB8chr7

150742435

+ABCB8chr7

150730827

+
intron-intronENST00000477719ENST00000477092ABCB8chr7

150742435

+ABCB8chr7

150730827

+
intron-intronENST00000477719ENST00000477719ABCB8chr7

150742435

+ABCB8chr7

150730827

+
intron-intronENST00000477719ENST00000498578ABCB8chr7

150742435

+ABCB8chr7

150730827

+
intron-intronENST00000477719ENST00000542328ABCB8chr7

150742435

+ABCB8chr7

150730827

+
intron-intronENST00000493338ENST00000297504ABCB8chr7

150742435

+ABCB8chr7

150730827

+
intron-intronENST00000493338ENST00000356058ABCB8chr7

150742435

+ABCB8chr7

150730827

+
intron-intronENST00000493338ENST00000477092ABCB8chr7

150742435

+ABCB8chr7

150730827

+
intron-intronENST00000493338ENST00000477719ABCB8chr7

150742435

+ABCB8chr7

150730827

+
intron-intronENST00000493338ENST00000498578ABCB8chr7

150742435

+ABCB8chr7

150730827

+
intron-intronENST00000493338ENST00000542328ABCB8chr7

150742435

+ABCB8chr7

150730827

+

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 ABCB8-ABCB8


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.

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 ABCB8-ABCB8


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/:150742435/:150730827)
- 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
ABCB8

Q9NUT2

ABCB8

Q9NUT2

FUNCTION: ATP-binding subunit of the mitochondrial potassium channel located in the mitochondrial inner membrane (PubMed:31435016). Together with CCDC51/MITOK, forms a protein complex localized in the mitochondria that mediates ATP-dependent potassium currents across the inner membrane (that is, mitoK(ATP) channel) (PubMed:31435016). Plays a role in mitochondrial iron transport (PubMed:30623799). Required for maintenance of normal cardiac function, possibly by influencing mitochondrial iron export and regulating the maturation of cytosolic iron sulfur cluster-containing enzymes (By similarity). {ECO:0000250|UniProtKB:Q9CXJ4, ECO:0000269|PubMed:30623799, ECO:0000269|PubMed:31435016}.FUNCTION: ATP-binding subunit of the mitochondrial potassium channel located in the mitochondrial inner membrane (PubMed:31435016). Together with CCDC51/MITOK, forms a protein complex localized in the mitochondria that mediates ATP-dependent potassium currents across the inner membrane (that is, mitoK(ATP) channel) (PubMed:31435016). Plays a role in mitochondrial iron transport (PubMed:30623799). Required for maintenance of normal cardiac function, possibly by influencing mitochondrial iron export and regulating the maturation of cytosolic iron sulfur cluster-containing enzymes (By similarity). {ECO:0000250|UniProtKB:Q9CXJ4, ECO:0000269|PubMed:30623799, ECO:0000269|PubMed:31435016}.

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 ABCB8-ABCB8


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 ABCB8-ABCB8


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 ABCB8-ABCB8


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 ABCB8-ABCB8


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