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Center for Computational Systems Medicine
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Fusion Gene Summary

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Fusion Gene ORF analysis

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Fusion Genomic Features

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Fusion Protein Features

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Fusion Gene Sequence

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Fusion Gene PPI analysis

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Related Drugs

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Related Diseases

Fusion gene:ATP6V0B-DECR1 (FusionGDB2 ID:8188)

Fusion Gene Summary for ATP6V0B-DECR1

check button Fusion gene summary
Fusion gene informationFusion gene name: ATP6V0B-DECR1
Fusion gene ID: 8188
HgeneTgene
Gene symbol

ATP6V0B

DECR1

Gene ID

533

1666

Gene nameATPase H+ transporting V0 subunit b2,4-dienoyl-CoA reductase 1
SynonymsATP6F|HATPL|VMA16DECR|NADPH|SDR18C1
Cytomap

1p34.1

8q21.3

Type of geneprotein-codingprotein-coding
DescriptionV-type proton ATPase 21 kDa proteolipid subunitATPase, H+ transporting, lysosomal 21kDa, V0 subunit bATPase, H+ transporting, lysosomal, 21-KD, V0 subunit C-prime, primeATPase, H+ transporting, lysosomal, subunit FH(+)-transporting two-sector ATPase, 2,4-dienoyl-CoA reductase, mitochondrial2,4-dienoyl-CoA reductase 1, mitochondrial4-enoyl-CoA reductaseshort chain dehydrogenase/reductase family 18C member 1
Modification date2020031320200313
UniProtAcc

Q99437

Q16698

Ensembl transtripts involved in fusion geneENST00000472174, ENST00000532642, 
ENST00000236067, ENST00000471859, 
ENST00000472277, ENST00000498664, 
ENST00000220764, ENST00000519007, 
ENST00000522161, 
Fusion gene scores* DoF score3 X 3 X 1=97 X 8 X 7=392
# samples 310
** MAII scorelog2(3/9*10)=1.73696559416621
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0		log2(10/392*10)=-1.97085365434048
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ATP6V0B [Title/Abstract] AND DECR1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointATP6V0B(44443958)-DECR1(91063913), # samples:1
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
TgeneDECR1

GO:0006635

fatty acid beta-oxidation

15531764


check buttonFusion gene breakpoints across ATP6V0B (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 DECR1 (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/ABQ306273ATP6V0Bchr1

44443958

+DECR1chr8

91063913

+


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Fusion Gene ORF analysis for ATP6V0B-DECR1

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-3CDSENST00000472174ENST00000220764ATP6V0Bchr1

44443958

+DECR1chr8

91063913

+
3UTR-intronENST00000472174ENST00000519007ATP6V0Bchr1

44443958

+DECR1chr8

91063913

+
3UTR-intronENST00000472174ENST00000522161ATP6V0Bchr1

44443958

+DECR1chr8

91063913

+
intron-3CDSENST00000532642ENST00000220764ATP6V0Bchr1

44443958

+DECR1chr8

91063913

+
intron-intronENST00000532642ENST00000519007ATP6V0Bchr1

44443958

+DECR1chr8

91063913

+
intron-intronENST00000532642ENST00000522161ATP6V0Bchr1

44443958

+DECR1chr8

91063913

+
In-frameENST00000236067ENST00000220764ATP6V0Bchr1

44443958

+DECR1chr8

91063913

+
5CDS-intronENST00000236067ENST00000519007ATP6V0Bchr1

44443958

+DECR1chr8

91063913

+
5CDS-intronENST00000236067ENST00000522161ATP6V0Bchr1

44443958

+DECR1chr8

91063913

+
intron-3CDSENST00000471859ENST00000220764ATP6V0Bchr1

44443958

+DECR1chr8

91063913

+
intron-intronENST00000471859ENST00000519007ATP6V0Bchr1

44443958

+DECR1chr8

91063913

+
intron-intronENST00000471859ENST00000522161ATP6V0Bchr1

44443958

+DECR1chr8

91063913

+
intron-3CDSENST00000472277ENST00000220764ATP6V0Bchr1

44443958

+DECR1chr8

91063913

+
intron-intronENST00000472277ENST00000519007ATP6V0Bchr1

44443958

+DECR1chr8

91063913

+
intron-intronENST00000472277ENST00000522161ATP6V0Bchr1

44443958

+DECR1chr8

91063913

+
3UTR-3CDSENST00000498664ENST00000220764ATP6V0Bchr1

44443958

+DECR1chr8

91063913

+
3UTR-intronENST00000498664ENST00000519007ATP6V0Bchr1

44443958

+DECR1chr8

91063913

+
3UTR-intronENST00000498664ENST00000522161ATP6V0Bchr1

44443958

+DECR1chr8

91063913

+

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)
ENST00000236067ATP6V0Bchr144443958+ENST00000220764DECR1chr891063913+1169944137661174

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
ENST00000236067ENST00000220764ATP6V0Bchr144443958+DECR1chr891063913+0.0082986470.9917013

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Fusion Genomic Features for ATP6V0B-DECR1


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.

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Fusion Protein Features for ATP6V0B-DECR1


check button Go to

FGviewer for the breakpoints of chr1:44443958-chr8:91063913

.
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
ATP6V0B

Q99437

DECR1

Q16698

FUNCTION: Proton-conducting pore forming subunit of the membrane integral V0 complex of vacuolar ATPase. V-ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells.FUNCTION: Auxiliary enzyme of beta-oxidation. It participates in the metabolism of unsaturated fatty enoyl-CoA esters having double bonds in both even- and odd-numbered positions in mitochondria. Catalyzes the NADP-dependent reduction of 2,4-dienoyl-CoA to yield trans-3-enoyl-CoA. {ECO:0000269|PubMed:15531764}.

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
HgeneATP6V0Bchr1:44443958chr8:91063913ENST00000236067+77112_137253.0159.0Topological domainCytoplasmic
HgeneATP6V0Bchr1:44443958chr8:91063913ENST00000236067+77159_175253.0159.0Topological domainLumenal
HgeneATP6V0Bchr1:44443958chr8:91063913ENST00000236067+77197_205253.0159.0Topological domainCytoplasmic
HgeneATP6V0Bchr1:44443958chr8:91063913ENST00000236067+771_3253.0159.0Topological domainLumenal
HgeneATP6V0Bchr1:44443958chr8:91063913ENST00000236067+7725_51253.0159.0Topological domainCytoplasmic
HgeneATP6V0Bchr1:44443958chr8:91063913ENST00000236067+7773_90253.0159.0Topological domainLumenal
HgeneATP6V0Bchr1:44443958chr8:91063913ENST00000472174+181_30206.0Topological domainLumenal
HgeneATP6V0Bchr1:44443958chr8:91063913ENST00000498664+161_30159.0Topological domainLumenal
HgeneATP6V0Bchr1:44443958chr8:91063913ENST00000236067+77138_158253.0159.0TransmembraneHelical
HgeneATP6V0Bchr1:44443958chr8:91063913ENST00000236067+77176_196253.0159.0TransmembraneHelical
HgeneATP6V0Bchr1:44443958chr8:91063913ENST00000236067+774_24253.0159.0TransmembraneHelical
HgeneATP6V0Bchr1:44443958chr8:91063913ENST00000236067+7752_72253.0159.0TransmembraneHelical
HgeneATP6V0Bchr1:44443958chr8:91063913ENST00000236067+7791_111253.0159.0TransmembraneHelical
TgeneDECR1chr1:44443958chr8:91063913ENST00000220764010240_2430336.0Nucleotide bindingNADP
TgeneDECR1chr1:44443958chr8:91063913ENST0000022076401066_710336.0Nucleotide bindingNADP

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneATP6V0Bchr1:44443958chr8:91063913ENST00000472174+18112_1370206.0Topological domainCytoplasmic
HgeneATP6V0Bchr1:44443958chr8:91063913ENST00000472174+18159_1750206.0Topological domainLumenal
HgeneATP6V0Bchr1:44443958chr8:91063913ENST00000472174+18197_2050206.0Topological domainCytoplasmic
HgeneATP6V0Bchr1:44443958chr8:91063913ENST00000472174+1825_510206.0Topological domainCytoplasmic
HgeneATP6V0Bchr1:44443958chr8:91063913ENST00000472174+1873_900206.0Topological domainLumenal
HgeneATP6V0Bchr1:44443958chr8:91063913ENST00000498664+16112_1370159.0Topological domainCytoplasmic
HgeneATP6V0Bchr1:44443958chr8:91063913ENST00000498664+16159_1750159.0Topological domainLumenal
HgeneATP6V0Bchr1:44443958chr8:91063913ENST00000498664+16197_2050159.0Topological domainCytoplasmic
HgeneATP6V0Bchr1:44443958chr8:91063913ENST00000498664+1625_510159.0Topological domainCytoplasmic
HgeneATP6V0Bchr1:44443958chr8:91063913ENST00000498664+1673_900159.0Topological domainLumenal
HgeneATP6V0Bchr1:44443958chr8:91063913ENST00000472174+18138_1580206.0TransmembraneHelical
HgeneATP6V0Bchr1:44443958chr8:91063913ENST00000472174+18176_1960206.0TransmembraneHelical
HgeneATP6V0Bchr1:44443958chr8:91063913ENST00000472174+184_240206.0TransmembraneHelical
HgeneATP6V0Bchr1:44443958chr8:91063913ENST00000472174+1852_720206.0TransmembraneHelical
HgeneATP6V0Bchr1:44443958chr8:91063913ENST00000472174+1891_1110206.0TransmembraneHelical
HgeneATP6V0Bchr1:44443958chr8:91063913ENST00000498664+16138_1580159.0TransmembraneHelical
HgeneATP6V0Bchr1:44443958chr8:91063913ENST00000498664+16176_1960159.0TransmembraneHelical
HgeneATP6V0Bchr1:44443958chr8:91063913ENST00000498664+164_240159.0TransmembraneHelical
HgeneATP6V0Bchr1:44443958chr8:91063913ENST00000498664+1652_720159.0TransmembraneHelical
HgeneATP6V0Bchr1:44443958chr8:91063913ENST00000498664+1691_1110159.0TransmembraneHelical


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Fusion Gene Sequence for ATP6V0B-DECR1


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.
>In-frame_ENST00000236067_ENST00000220764_BQ306273_ATP6V0B_chr1_44443958_+_DECR1_chr8_91063913_length(transcript)=1169nt_BP=944nt
GGGCGGGCGGACAGACTGCGGGACGGACGGTGGACGCTGGGACGCGTTTGTAGCTCCGGCCCCGCCGTTCCGACCCCCGCCGCCGTCGCC
GCCATGACGGGGCTAGCACTGCTCTACTCCGGGGTCTTCGTGGCCTTCTGGGCCTGCGCGCTGGCCGTGGGTTCCTGACGGAGACTTCGC
CCTTCATGTGGTCCAACCTGGGCATTGGCCTAGCTATCTCCCTGTCTGTGGTTGGGGCAGCCTGGGGCATCTATATTACCGGCTCCTCCA
TCATTGGTGGAGGAGTGAAGGCCCCCAGGATCAAGACCAAGAACCTGGTCAGCATCATCTTCTGTGAGGCTGTGGCCATCTACGGCATCA
TCATGGCAATTGTCATTAGCAACATGGCTGAGCCTTTCAGTGCCACAGACCCCAAGGCCATCGGCCATCGGAACTACCATGCAGGCTACT
CCATGTTTGGGGCTGGCCTCACCGTAGGCCTGTCTAACCTCTTCTGTGGAGTCTGCGTGGGCATCGTGGGCAGTGGGGCTGCCCTGGCCG
ATGCTCAGAACCCCAGCCTCTTTGTAAAGATTCTCATCGTGGAGATCTTTGGCAGCGCCATTGGCCTCTTTGGGGTCATCGTCGCAATTC
TTCAGACCTCCAGAGTGAAGATGGGTGACTAGATGATATGTGTGGGTGGGGCCGTGCCTCACTTTTATTTATTGCTGGTTTTCCTGGGAC
AGCTGGAGCTGTGTCCCTTAGCCTTTCAGAGGCTTGGTGTTCAGGGCCCTCCCTGCACTCCCCTCTTGCTGCGTGTTGATTTGGAGGCAC
TGCAGTCCAGGCCGAGTCCTCAGTGCGGGGAGCAGGCTGCTGCTGCTGACTCTGTGCAGCTGCGCACCTGTGTCCCCCACCTCCACCCTC
AACCCATCTTCCTAGTGTTTGTGAAATAAACTTGGTATTTGTCTTTTGACGGTGGAGAGGAAGTACTTATTTCAGGGGAATTCAACGACC
TGAGAAAGGTCACCAAGGAGCAGTGGGACACCATAGAAGAACTCATCAGGAAGACAAAAGGTTCCTAAGACCACTTTGGCCTTCATCTTG

>In-frame_ENST00000236067_ENST00000220764_BQ306273_ATP6V0B_chr1_44443958_+_DECR1_chr8_91063913_length(amino acids)=174AA_start in transcript=137_stop in transcript=661
MGLRAGRGFLTETSPFMWSNLGIGLAISLSVVGAAWGIYITGSSIIGGGVKAPRIKTKNLVSIIFCEAVAIYGIIMAIVISNMAEPFSAT

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

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Fusion Gene PPI Analysis for ATP6V0B-DECR1


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


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Related Drugs for ATP6V0B-DECR1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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Related Diseases for ATP6V0B-DECR1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneDECR1C18572522,4-Dienoyl-CoA Reductase Deficiency2CTD_human;GENOMICS_ENGLAND
TgeneDECR1C0009171Cocaine Abuse1PSYGENET
TgeneDECR1C0023772Lipid Metabolism, Inborn Errors1CTD_human