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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:ATP6V0A4-TM4SF20

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: ATP6V0A4-TM4SF20
FusionPDB ID: 8105
FusionGDB2.0 ID: 8105
HgeneTgene
Gene symbol

ATP6V0A4

TM4SF20

Gene ID

50617

79853

Gene nameATPase H+ transporting V0 subunit a4transmembrane 4 L six family member 20
SynonymsA4|ATP6N1B|ATP6N2|RDRTA2|RTA1C|RTADR|STV1|VPH1|VPP2PRO994|SLI5|TCCE518
Cytomap

7q34

2q36.3

Type of geneprotein-codingprotein-coding
DescriptionV-type proton ATPase 116 kDa subunit a isoform 4V-type proton ATPase 116 kDa subunit aATPase, H+ transporting, lysosomal (vacuolar proton pump) non-catalytic accessory protein 1BATPase, H+ transporting, lysosomal (vacuolar proton pump) non-catalytic actransmembrane 4 L6 family member 20
Modification date2020031320200313
UniProtAcc

Q9HBG4

.
Ensembl transtripts involved in fusion geneENST idsENST00000310018, ENST00000393054, 
ENST00000353492, ENST00000483139, 
ENST00000304568, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score1 X 1 X 1=11 X 1 X 1=1
# samples 11
** MAII scorelog2(1/1*10)=3.32192809488736log2(1/1*10)=3.32192809488736
Context (manual curation of fusion genes in FusionPDB)

PubMed: ATP6V0A4 [Title/Abstract] AND TM4SF20 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)ATP6V0A4(138406642)-TM4SF20(228235696), # samples:3
Anticipated loss of major functional domain due to fusion event.ATP6V0A4-TM4SF20 seems lost the major protein functional domain in Hgene 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
TgeneTM4SF20

GO:0045861

negative regulation of proteolysis

25310401|27499293


check buttonFusion gene breakpoints across ATP6V0A4 (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 TM4SF20 (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
ChimerDB4UCSTCGA-N8-A56S-01AATP6V0A4chr7

138406642

-TM4SF20chr2

228235696

-
ChimerDB4UCSTCGA-N8-A56SATP6V0A4chr7

138406642

-TM4SF20chr2

228235696

-


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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)
ENST00000353492ATP6V0A4chr7138406642-ENST00000304568TM4SF20chr2228235696-43022227492733894

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
ENST00000353492ENST00000304568ATP6V0A4chr7138406642-TM4SF20chr2228235696-0.000543610.99945635

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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

>8105_8105_1_ATP6V0A4-TM4SF20_ATP6V0A4_chr7_138406642_ENST00000353492_TM4SF20_chr2_228235696_ENST00000304568_length(amino acids)=894AA_BP=726
MCRVPAADRGWAKMVSVFRSEEMCLSQLFLQVEAAYCCVAELGELGLVQFKDLNMNVNSFQRKFVNEVRRCESLERILRFLEDEMQNEIV
VQLLEKSPLTPLPREMITLETVLEKLEGELQEANQNQQALKQSFLELTELKYLLKKTQDFFETETNLADDFFTEDTSGLLELKAVPAYMT
GKLGFIAGVINRERMASFERLLWRICRGNVYLKFSEMDAPLEDPVTKEEIQKNIFIIFYQGEQLRQKIKKICDGFRATVYPCPEPAVERR
EMLESVNVRLEDLITVITQTESHRQRLLQEAAANWHSWLIKVQKMKAVYHILNMCNIDVTQQCVIAEIWFPVADATRIKRALEQGMELSG
SSMAPIMTTVQSKTAPPTFNRTNKFTAGFQNIVDAYGVGSYREINPAPYTIITFPFLFAVMFGDCGHGTVMLLAALWMILNERRLLSQKT
DNEIWNTFFHGRYLILLMGIFSIYTGLIYNDCFSKSLNIFGSSWSVQPMFRNGTWNTHVMEESLYLQLDPAIPGVYFGNPYPFGIDPIWN
LASNKLTFLNSYKMKMSVILGIVQMVFGVILSLFNHIYFRRTLNIILQFIPEMIFILCLFGYLVFMIIFKWCCFDVHVSQHAPSILIHFI
NMFLFNYSDSSNAPLYKHQQEVQSFFVVMALISVPWMLLIKPFILRASHRKSQLQASRIQEDATENIEGDSSSPSSRSGQRTSADTHGAL
DDHGEEAIPATTMSLTARKRACCNNRTGMFLSSLFSVITVIGALYCMLISIQALLKGPLMCNSPSNSNANCEFSLKNISDIHPESFNLQW

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

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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/chr7:138406642/chr2:228235696)
- 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
ATP6V0A4

Q9HBG4

.
FUNCTION: Part of the proton channel of the V-ATPase that is involved in normal vectorial acid transport into the urine by the kidney. {ECO:0000250}.FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.

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
HgeneATP6V0A4chr7:138406642chr2:228235696ENST00000310018-19221_390713.0841.0Topological domainCytoplasmic
HgeneATP6V0A4chr7:138406642chr2:228235696ENST00000310018-1922410_411713.0841.0Topological domainVacuolar
HgeneATP6V0A4chr7:138406642chr2:228235696ENST00000310018-1922429_443713.0841.0Topological domainCytoplasmic
HgeneATP6V0A4chr7:138406642chr2:228235696ENST00000310018-1922474_538713.0841.0Topological domainVacuolar
HgeneATP6V0A4chr7:138406642chr2:228235696ENST00000310018-1922559_576713.0841.0Topological domainCytoplasmic
HgeneATP6V0A4chr7:138406642chr2:228235696ENST00000310018-1922598_642713.0841.0Topological domainVacuolar
HgeneATP6V0A4chr7:138406642chr2:228235696ENST00000353492-18211_390713.0841.0Topological domainCytoplasmic
HgeneATP6V0A4chr7:138406642chr2:228235696ENST00000353492-1821410_411713.0841.0Topological domainVacuolar
HgeneATP6V0A4chr7:138406642chr2:228235696ENST00000353492-1821429_443713.0841.0Topological domainCytoplasmic
HgeneATP6V0A4chr7:138406642chr2:228235696ENST00000353492-1821474_538713.0841.0Topological domainVacuolar
HgeneATP6V0A4chr7:138406642chr2:228235696ENST00000353492-1821559_576713.0841.0Topological domainCytoplasmic
HgeneATP6V0A4chr7:138406642chr2:228235696ENST00000353492-1821598_642713.0841.0Topological domainVacuolar
HgeneATP6V0A4chr7:138406642chr2:228235696ENST00000393054-18211_390713.0841.0Topological domainCytoplasmic
HgeneATP6V0A4chr7:138406642chr2:228235696ENST00000393054-1821410_411713.0841.0Topological domainVacuolar
HgeneATP6V0A4chr7:138406642chr2:228235696ENST00000393054-1821429_443713.0841.0Topological domainCytoplasmic
HgeneATP6V0A4chr7:138406642chr2:228235696ENST00000393054-1821474_538713.0841.0Topological domainVacuolar
HgeneATP6V0A4chr7:138406642chr2:228235696ENST00000393054-1821559_576713.0841.0Topological domainCytoplasmic
HgeneATP6V0A4chr7:138406642chr2:228235696ENST00000393054-1821598_642713.0841.0Topological domainVacuolar
HgeneATP6V0A4chr7:138406642chr2:228235696ENST00000310018-1922391_409713.0841.0TransmembraneHelical
HgeneATP6V0A4chr7:138406642chr2:228235696ENST00000310018-1922412_428713.0841.0TransmembraneHelical
HgeneATP6V0A4chr7:138406642chr2:228235696ENST00000310018-1922444_473713.0841.0TransmembraneHelical
HgeneATP6V0A4chr7:138406642chr2:228235696ENST00000310018-1922539_558713.0841.0TransmembraneHelical
HgeneATP6V0A4chr7:138406642chr2:228235696ENST00000310018-1922577_597713.0841.0TransmembraneHelical
HgeneATP6V0A4chr7:138406642chr2:228235696ENST00000310018-1922643_662713.0841.0TransmembraneHelical
HgeneATP6V0A4chr7:138406642chr2:228235696ENST00000353492-1821391_409713.0841.0TransmembraneHelical
HgeneATP6V0A4chr7:138406642chr2:228235696ENST00000353492-1821412_428713.0841.0TransmembraneHelical
HgeneATP6V0A4chr7:138406642chr2:228235696ENST00000353492-1821444_473713.0841.0TransmembraneHelical
HgeneATP6V0A4chr7:138406642chr2:228235696ENST00000353492-1821539_558713.0841.0TransmembraneHelical
HgeneATP6V0A4chr7:138406642chr2:228235696ENST00000353492-1821577_597713.0841.0TransmembraneHelical
HgeneATP6V0A4chr7:138406642chr2:228235696ENST00000353492-1821643_662713.0841.0TransmembraneHelical
HgeneATP6V0A4chr7:138406642chr2:228235696ENST00000393054-1821391_409713.0841.0TransmembraneHelical
HgeneATP6V0A4chr7:138406642chr2:228235696ENST00000393054-1821412_428713.0841.0TransmembraneHelical
HgeneATP6V0A4chr7:138406642chr2:228235696ENST00000393054-1821444_473713.0841.0TransmembraneHelical
HgeneATP6V0A4chr7:138406642chr2:228235696ENST00000393054-1821539_558713.0841.0TransmembraneHelical
HgeneATP6V0A4chr7:138406642chr2:228235696ENST00000393054-1821577_597713.0841.0TransmembraneHelical
HgeneATP6V0A4chr7:138406642chr2:228235696ENST00000393054-1821643_662713.0841.0TransmembraneHelical
TgeneTM4SF20chr7:138406642chr2:228235696ENST0000030456804105_18561.0230.0Topological domainCytoplasmic
TgeneTM4SF20chr7:138406642chr2:228235696ENST0000030456804207_22961.0230.0Topological domainLumenal
TgeneTM4SF20chr7:138406642chr2:228235696ENST000003045680466_8361.0230.0Topological domainLumenal
TgeneTM4SF20chr7:138406642chr2:228235696ENST0000030456804186_20661.0230.0TransmembraneHelical
TgeneTM4SF20chr7:138406642chr2:228235696ENST000003045680484_10461.0230.0TransmembraneHelical

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneATP6V0A4chr7:138406642chr2:228235696ENST00000310018-1922663_727713.0841.0Topological domainCytoplasmic
HgeneATP6V0A4chr7:138406642chr2:228235696ENST00000310018-1922753_773713.0841.0Topological domainVacuolar
HgeneATP6V0A4chr7:138406642chr2:228235696ENST00000310018-1922813_840713.0841.0Topological domainCytoplasmic
HgeneATP6V0A4chr7:138406642chr2:228235696ENST00000353492-1821663_727713.0841.0Topological domainCytoplasmic
HgeneATP6V0A4chr7:138406642chr2:228235696ENST00000353492-1821753_773713.0841.0Topological domainVacuolar
HgeneATP6V0A4chr7:138406642chr2:228235696ENST00000353492-1821813_840713.0841.0Topological domainCytoplasmic
HgeneATP6V0A4chr7:138406642chr2:228235696ENST00000393054-1821663_727713.0841.0Topological domainCytoplasmic
HgeneATP6V0A4chr7:138406642chr2:228235696ENST00000393054-1821753_773713.0841.0Topological domainVacuolar
HgeneATP6V0A4chr7:138406642chr2:228235696ENST00000393054-1821813_840713.0841.0Topological domainCytoplasmic
HgeneATP6V0A4chr7:138406642chr2:228235696ENST00000310018-1922728_752713.0841.0TransmembraneHelical
HgeneATP6V0A4chr7:138406642chr2:228235696ENST00000310018-1922774_812713.0841.0TransmembraneHelical
HgeneATP6V0A4chr7:138406642chr2:228235696ENST00000353492-1821728_752713.0841.0TransmembraneHelical
HgeneATP6V0A4chr7:138406642chr2:228235696ENST00000353492-1821774_812713.0841.0TransmembraneHelical
HgeneATP6V0A4chr7:138406642chr2:228235696ENST00000393054-1821728_752713.0841.0TransmembraneHelical
HgeneATP6V0A4chr7:138406642chr2:228235696ENST00000393054-1821774_812713.0841.0TransmembraneHelical
TgeneTM4SF20chr7:138406642chr2:228235696ENST00000304568041_1461.0230.0Topological domainLumenal
TgeneTM4SF20chr7:138406642chr2:228235696ENST000003045680436_4461.0230.0Topological domainCytoplasmic
TgeneTM4SF20chr7:138406642chr2:228235696ENST000003045680415_3561.0230.0TransmembraneHelical
TgeneTM4SF20chr7:138406642chr2:228235696ENST000003045680445_6561.0230.0TransmembraneHelical


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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 >>>1684_ATP6V0A4_138406642_TM4SF20_228235696_ranked_0.pdbATP6V0A4138406642138406642ENST00000304568TM4SF20chr2228235696-
MCRVPAADRGWAKMVSVFRSEEMCLSQLFLQVEAAYCCVAELGELGLVQFKDLNMNVNSFQRKFVNEVRRCESLERILRFLEDEMQNEIV
VQLLEKSPLTPLPREMITLETVLEKLEGELQEANQNQQALKQSFLELTELKYLLKKTQDFFETETNLADDFFTEDTSGLLELKAVPAYMT
GKLGFIAGVINRERMASFERLLWRICRGNVYLKFSEMDAPLEDPVTKEEIQKNIFIIFYQGEQLRQKIKKICDGFRATVYPCPEPAVERR
EMLESVNVRLEDLITVITQTESHRQRLLQEAAANWHSWLIKVQKMKAVYHILNMCNIDVTQQCVIAEIWFPVADATRIKRALEQGMELSG
SSMAPIMTTVQSKTAPPTFNRTNKFTAGFQNIVDAYGVGSYREINPAPYTIITFPFLFAVMFGDCGHGTVMLLAALWMILNERRLLSQKT
DNEIWNTFFHGRYLILLMGIFSIYTGLIYNDCFSKSLNIFGSSWSVQPMFRNGTWNTHVMEESLYLQLDPAIPGVYFGNPYPFGIDPIWN
LASNKLTFLNSYKMKMSVILGIVQMVFGVILSLFNHIYFRRTLNIILQFIPEMIFILCLFGYLVFMIIFKWCCFDVHVSQHAPSILIHFI
NMFLFNYSDSSNAPLYKHQQEVQSFFVVMALISVPWMLLIKPFILRASHRKSQLQASRIQEDATENIEGDSSSPSSRSGQRTSADTHGAL
DDHGEEAIPATTMSLTARKRACCNNRTGMFLSSLFSVITVIGALYCMLISIQALLKGPLMCNSPSNSNANCEFSLKNISDIHPESFNLQW
894


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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.
ATP6V0A4_pLDDT.png
all structure
all structure
TM4SF20_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
ATP6V0A4
TM4SF20


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 ATP6V0A4-TM4SF20


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 ATP6V0A4-TM4SF20


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