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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 3443

FusionGeneSummary for ATP6V0A4_TM4SF20

check button Fusion gene summary
Fusion gene informationFusion gene name: ATP6V0A4_TM4SF20
Fusion gene ID: 3443
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 date2018052320180523
UniProtAcc

Q9HBG4

Q53R12

Ensembl transtripts involved in fusion geneENST00000393054, ENST00000310018, 
ENST00000353492, ENST00000483139, 
ENST00000304568, 
Fusion gene scores* 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

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

Functional or gene categories assigned by FusionGDB annotation
* 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 button Fusion gene information from three resources
(ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018))
* 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.
Data typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
TCGARVUCSTCGA-N8-A56S-01AATP6V0A4chr7

138406642

-TM4SF20chr2

228235696

-
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

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
Frame-shiftENST00000393054ENST00000304568ATP6V0A4chr7

138406642

-TM4SF20chr2

228235696

-
Frame-shiftENST00000310018ENST00000304568ATP6V0A4chr7

138406642

-TM4SF20chr2

228235696

-
In-frameENST00000353492ENST00000304568ATP6V0A4chr7

138406642

-TM4SF20chr2

228235696

-
intron-3CDSENST00000483139ENST00000304568ATP6V0A4chr7

138406642

-TM4SF20chr2

228235696

-

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FusionProtFeatures for ATP6V0A4_TM4SF20


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
ATP6V0A4

Q9HBG4

TM4SF20

Q53R12

Part of the proton channel of the V-ATPase that isinvolved in normal vectorial acid transport into the urine by thekidney. {ECO:0000250}. Polytopic transmembrane protein that inhibits regulatedintramembrane proteolysis (RIP) of CREB3L1, inhibiting itsactivation and the induction of collagen synthesis(PubMed:25310401, PubMed:27499293). In response to ceramide, whichalters TM4SF20 membrane topology, stimulates RIP activation ofCREB3L1 (PubMed:27499293). Ceramide reverses the direction throughwhich transmembrane helices are translocated into the endoplasmicreticulum membrane during translation of TM4SF20, this mechanismis called 'regulated alternative translocation' (RAT) andregulates the function of the transmembrane protein(PubMed:27499293). {ECO:0000269|PubMed:25310401,ECO:0000269|PubMed:27499293}.

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


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FusionGeneSequence for ATP6V0A4_TM4SF20


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences.
(nt: nucleotides, aa: amino acids)

* Fusion amino acid sequences.
>In-frame_ATP6V0A4_ENST00000353492_chr7_138406642_-_TM4SF20_ENST00000304568_chr2_228235696_-_882aa
MVSVFRSEEMCLSQLFLQVEAAYCCVAELGELGLVQFKDLNMNVNSFQRKFVNEVRRCESLERILRFLEDEMQNEIVVQLLEKSPLTPLP
REMITLETVLEKLEGELQEANQNQQALKQSFLELTELKYLLKKTQDFFETETNLADDFFTEDTSGLLELKAVPAYMTGKLGFIAGVINRE
RMASFERLLWRICRGNVYLKFSEMDAPLEDPVTKEEIQKNIFIIFYQGEQLRQKIKKICDGFRATVYPCPEPAVERREMLESVNVRLEDL
ITVITQTESHRQRLLQEAAANWHSWLIKVQKMKAVYHILNMCNIDVTQQCVIAEIWFPVADATRIKRALEQGMELSGSSMAPIMTTVQSK
TAPPTFNRTNKFTAGFQNIVDAYGVGSYREINPAPYTIITFPFLFAVMFGDCGHGTVMLLAALWMILNERRLLSQKTDNEIWNTFFHGRY
LILLMGIFSIYTGLIYNDCFSKSLNIFGSSWSVQPMFRNGTWNTHVMEESLYLQLDPAIPGVYFGNPYPFGIDPIWNLASNKLTFLNSYK
MKMSVILGIVQMVFGVILSLFNHIYFRRTLNIILQFIPEMIFILCLFGYLVFMIIFKWCCFDVHVSQHAPSILIHFINMFLFNYSDSSNA
PLYKHQQEVQSFFVVMALISVPWMLLIKPFILRASHRKSQLQASRIQEDATENIEGDSSSPSSRSGQRTSADTHGALDDHGEEAIPATTM
SLTARKRACCNNRTGMFLSSLFSVITVIGALYCMLISIQALLKGPLMCNSPSNSNANCEFSLKNISDIHPESFNLQWFFNDSCAPPTGFN


* Fusion transcript sequences (only coding sequence (CDS) region).
>In-frame_ATP6V0A4_ENST00000353492_chr7_138406642_-_TM4SF20_ENST00000304568_chr2_228235696_-_2646nt
ATGGTGTCTGTGTTTCGAAGCGAGGAGATGTGTTTGTCACAACTGTTTCTCCAGGTGGAAGCTGCATATTGCTGTGTGGCTGAGCTCGGA
GAGCTCGGATTGGTTCAGTTCAAAGATTTAAATATGAATGTGAACAGCTTTCAAAGGAAATTTGTGAATGAAGTCAGAAGGTGTGAATCA
CTGGAGAGAATCCTCCGTTTTCTGGAAGACGAGATGCAAAATGAGATTGTAGTTCAGTTGCTCGAGAAAAGCCCACTGACCCCGCTCCCA
CGGGAAATGATTACCCTGGAGACTGTTCTAGAAAAACTGGAAGGAGAGTTACAGGAAGCCAACCAGAACCAGCAGGCCTTGAAACAAAGC
TTCCTAGAACTGACAGAACTGAAATACCTCCTGAAGAAAACCCAAGACTTCTTTGAGACGGAAACCAATTTAGCTGATGATTTCTTTACT
GAGGACACTTCTGGCCTCCTGGAGTTGAAAGCAGTGCCTGCATATATGACCGGAAAGTTGGGGTTCATAGCCGGTGTGATCAACAGGGAG
AGGATGGCTTCCTTTGAGCGGTTACTGTGGCGAATCTGCCGAGGAAACGTGTACTTGAAGTTCAGTGAGATGGACGCCCCTCTGGAGGAT
CCTGTGACGAAAGAAGAAATTCAGAAGAACATATTCATCATATTTTACCAAGGAGAGCAGCTCAGGCAGAAAATCAAGAAGATCTGTGAT
GGGTTTCGAGCCACTGTCTACCCTTGCCCAGAGCCTGCGGTGGAGCGCAGAGAGATGTTGGAGAGCGTCAATGTGAGGCTGGAAGATTTA
ATCACCGTCATAACACAAACAGAGTCTCACCGCCAGCGCCTGCTGCAGGAAGCCGCTGCCAACTGGCACTCCTGGCTCATCAAGGTGCAG
AAGATGAAAGCTGTCTACCACATCCTGAACATGTGCAACATCGACGTCACCCAGCAGTGTGTCATCGCCGAGATCTGGTTCCCGGTGGCA
GATGCCACACGTATCAAGAGGGCACTGGAGCAAGGCATGGAACTAAGTGGCTCCTCCATGGCCCCCATCATGACCACAGTGCAATCTAAA
ACAGCCCCTCCCACATTTAACAGGACCAATAAATTCACAGCTGGCTTCCAGAATATTGTTGATGCCTATGGTGTCGGCAGCTACCGGGAG
ATAAACCCAGCCCCCTACACCATCATCACTTTCCCCTTCCTGTTCGCTGTGATGTTTGGAGACTGTGGTCATGGAACCGTGATGCTCCTG
GCTGCACTTTGGATGATTCTGAATGAGAGACGCTTGCTCTCCCAGAAGACAGACAATGAGATTTGGAACACCTTCTTCCACGGGCGCTAT
CTGATCCTACTTATGGGCATCTTCTCCATCTACACGGGTTTGATCTACAATGACTGCTTCTCCAAGTCCTTGAACATCTTTGGCTCTTCT
TGGAGTGTCCAACCCATGTTCAGAAACGGCACATGGAATACTCATGTAATGGAGGAAAGTCTATATCTGCAGCTGGACCCAGCCATACCA
GGAGTGTATTTTGGAAATCCATACCCGTTTGGGATTGATCCGATTTGGAACTTGGCTTCAAACAAACTCACATTTCTGAACTCGTATAAA
ATGAAGATGTCGGTGATCCTGGGAATTGTCCAGATGGTTTTCGGTGTCATCCTCAGCCTTTTCAATCACATATACTTCAGAAGAACTCTC
AACATCATTCTGCAATTTATCCCTGAGATGATTTTTATCCTGTGTCTGTTTGGATACCTGGTTTTCATGATCATTTTCAAATGGTGCTGC
TTTGACGTCCATGTATCTCAGCACGCCCCCAGCATCCTCATCCACTTCATCAACATGTTTCTGTTTAACTACAGTGACTCTTCCAACGCA
CCCCTCTACAAACATCAGCAAGAAGTCCAAAGTTTCTTTGTGGTTATGGCTTTGATTTCTGTGCCGTGGATGCTTCTGATTAAGCCGTTT
ATTCTTAGAGCCAGTCATCGGAAATCCCAGCTGCAGGCATCCAGGATCCAAGAAGATGCCACTGAGAACATTGAAGGTGATAGCTCCAGC
CCTTCTAGCCGTTCTGGCCAGAGGACTTCTGCAGATACCCACGGGGCTCTGGACGACCATGGAGAAGAGGCCATTCCAGCAACAACAATG
TCCTTGACAGCAAGAAAAAGAGCGTGCTGCAACAACAGAACTGGAATGTTTCTTTCATCACTTTTCAGTGTGATCACAGTCATTGGTGCT
CTGTATTGCATGCTGATATCCATCCAGGCTCTCTTAAAAGGTCCTCTCATGTGTAATTCTCCAAGCAACAGTAATGCCAATTGTGAATTT
TCATTGAAAAACATCAGTGACATTCATCCAGAATCCTTCAACTTGCAGTGGTTTTTCAATGACTCTTGTGCACCTCCTACTGGTTTCAAT
AAACCCACCAGTAACGACACCATGGCGAGTGGCTGGAGAGCATCTAGTTTCCACTTCGATTCTGAAGAAAACAAACATAGGCTTATCCAC
TTCTCAGTATTTTTAGGTCTATTGCTTGTTGGAATTCTGGAGGTCCTGTTTGGGCTCAGTCAGATAGTCATCGGTTTCCTTGGCTGTCTG


* Fusion transcript sequences (Full-length transcript).
>In-frame_ATP6V0A4_ENST00000353492_chr7_138406642_-_TM4SF20_ENST00000304568_chr2_228235696_-_4302nt
GCTGGAGGCTGTGCTGAGTGCCCGGTGCAGGTGAGCCGGTCCTGCGGAGTTGTGCCGAGTGCCTGCTGCAGACCGAGGCTGGGCCAAGAT
GGTGTCTGTGTTTCGAAGCGAGGAGATGTGTTTGTCACAACTGTTTCTCCAGGTGGAAGCTGCATATTGCTGTGTGGCTGAGCTCGGAGA
GCTCGGATTGGTTCAGTTCAAAGATTTAAATATGAATGTGAACAGCTTTCAAAGGAAATTTGTGAATGAAGTCAGAAGGTGTGAATCACT
GGAGAGAATCCTCCGTTTTCTGGAAGACGAGATGCAAAATGAGATTGTAGTTCAGTTGCTCGAGAAAAGCCCACTGACCCCGCTCCCACG
GGAAATGATTACCCTGGAGACTGTTCTAGAAAAACTGGAAGGAGAGTTACAGGAAGCCAACCAGAACCAGCAGGCCTTGAAACAAAGCTT
CCTAGAACTGACAGAACTGAAATACCTCCTGAAGAAAACCCAAGACTTCTTTGAGACGGAAACCAATTTAGCTGATGATTTCTTTACTGA
GGACACTTCTGGCCTCCTGGAGTTGAAAGCAGTGCCTGCATATATGACCGGAAAGTTGGGGTTCATAGCCGGTGTGATCAACAGGGAGAG
GATGGCTTCCTTTGAGCGGTTACTGTGGCGAATCTGCCGAGGAAACGTGTACTTGAAGTTCAGTGAGATGGACGCCCCTCTGGAGGATCC
TGTGACGAAAGAAGAAATTCAGAAGAACATATTCATCATATTTTACCAAGGAGAGCAGCTCAGGCAGAAAATCAAGAAGATCTGTGATGG
GTTTCGAGCCACTGTCTACCCTTGCCCAGAGCCTGCGGTGGAGCGCAGAGAGATGTTGGAGAGCGTCAATGTGAGGCTGGAAGATTTAAT
CACCGTCATAACACAAACAGAGTCTCACCGCCAGCGCCTGCTGCAGGAAGCCGCTGCCAACTGGCACTCCTGGCTCATCAAGGTGCAGAA
GATGAAAGCTGTCTACCACATCCTGAACATGTGCAACATCGACGTCACCCAGCAGTGTGTCATCGCCGAGATCTGGTTCCCGGTGGCAGA
TGCCACACGTATCAAGAGGGCACTGGAGCAAGGCATGGAACTAAGTGGCTCCTCCATGGCCCCCATCATGACCACAGTGCAATCTAAAAC
AGCCCCTCCCACATTTAACAGGACCAATAAATTCACAGCTGGCTTCCAGAATATTGTTGATGCCTATGGTGTCGGCAGCTACCGGGAGAT
AAACCCAGCCCCCTACACCATCATCACTTTCCCCTTCCTGTTCGCTGTGATGTTTGGAGACTGTGGTCATGGAACCGTGATGCTCCTGGC
TGCACTTTGGATGATTCTGAATGAGAGACGCTTGCTCTCCCAGAAGACAGACAATGAGATTTGGAACACCTTCTTCCACGGGCGCTATCT
GATCCTACTTATGGGCATCTTCTCCATCTACACGGGTTTGATCTACAATGACTGCTTCTCCAAGTCCTTGAACATCTTTGGCTCTTCTTG
GAGTGTCCAACCCATGTTCAGAAACGGCACATGGAATACTCATGTAATGGAGGAAAGTCTATATCTGCAGCTGGACCCAGCCATACCAGG
AGTGTATTTTGGAAATCCATACCCGTTTGGGATTGATCCGATTTGGAACTTGGCTTCAAACAAACTCACATTTCTGAACTCGTATAAAAT
GAAGATGTCGGTGATCCTGGGAATTGTCCAGATGGTTTTCGGTGTCATCCTCAGCCTTTTCAATCACATATACTTCAGAAGAACTCTCAA
CATCATTCTGCAATTTATCCCTGAGATGATTTTTATCCTGTGTCTGTTTGGATACCTGGTTTTCATGATCATTTTCAAATGGTGCTGCTT
TGACGTCCATGTATCTCAGCACGCCCCCAGCATCCTCATCCACTTCATCAACATGTTTCTGTTTAACTACAGTGACTCTTCCAACGCACC
CCTCTACAAACATCAGCAAGAAGTCCAAAGTTTCTTTGTGGTTATGGCTTTGATTTCTGTGCCGTGGATGCTTCTGATTAAGCCGTTTAT
TCTTAGAGCCAGTCATCGGAAATCCCAGCTGCAGGCATCCAGGATCCAAGAAGATGCCACTGAGAACATTGAAGGTGATAGCTCCAGCCC
TTCTAGCCGTTCTGGCCAGAGGACTTCTGCAGATACCCACGGGGCTCTGGACGACCATGGAGAAGAGGCCATTCCAGCAACAACAATGTC
CTTGACAGCAAGAAAAAGAGCGTGCTGCAACAACAGAACTGGAATGTTTCTTTCATCACTTTTCAGTGTGATCACAGTCATTGGTGCTCT
GTATTGCATGCTGATATCCATCCAGGCTCTCTTAAAAGGTCCTCTCATGTGTAATTCTCCAAGCAACAGTAATGCCAATTGTGAATTTTC
ATTGAAAAACATCAGTGACATTCATCCAGAATCCTTCAACTTGCAGTGGTTTTTCAATGACTCTTGTGCACCTCCTACTGGTTTCAATAA
ACCCACCAGTAACGACACCATGGCGAGTGGCTGGAGAGCATCTAGTTTCCACTTCGATTCTGAAGAAAACAAACATAGGCTTATCCACTT
CTCAGTATTTTTAGGTCTATTGCTTGTTGGAATTCTGGAGGTCCTGTTTGGGCTCAGTCAGATAGTCATCGGTTTCCTTGGCTGTCTGTG
TGGAGTCTCTAAGCGAAGAAGTCAAATTGTGTAGTTTAATGGGAATAAAATGTAAGTATCAGTAGTTTGAATTAATTTGAGAAGTACACT
TGTTTTCAAAGTCATCTTTGAGATGATTTAAAAAATCAACCCTTCACGTAGAAAGCACGTTGTAAATGCATAACACTCTCATATCAGTGG
TTGATTTGGGAAAGGTGGAGAGAATTTTCAATTAGTTTTGTGTTGTACTATTCAAATTTTTTACCTCTTCACTGTGTGTAGAGAAAGGAG
AAGGGAAGGAGGATGAGAAGGAACGGAAGTCATCCTGAAAATAAAAGTACAGGACTTTTTTTTTTTTTTTTTGAGACAGGGTCTCAAAAA
AGGCTGGAGTACAGTAGTACAGTGGTGCTATCTCAGCTTACTGCAGCCTCAACCTCCTGGGCTCAGGTGATTCTCCCATCTCAGCCTCCC
TAGTAGCTGGGACTACAGGTGCGTGCCACTATGCCAAGCTAATTTTTGTATTTTTAGTAGAGATGGGGGTTTTCCATATTGCCCAGGCTG
GTCCCGAACTCATGGACTCAAGTGATCTGCCTGCCTCAGCCTCCTAAAGTGCTGCGATTACAGGCATGAGCCATCGCGCCTAAAGGACAG
GACCTTTTTATTGTATTTCTTTAAAGAATAAATACATAACCTGAATGCAATCAAGTCTTTAGATCTAATTCTCAGCTTGCAGGGAACACT
AGGACAAATCCAAAAAGTGGGTCAGCGGGCACAGAATGGCCCAATTTTCAACAGGAAAATGTTATAAAAGAAAAATATTTTTGAGGGAAC
TGTTATAGATTAAGAGAATAGAGGCATGTTTCAGCTAAACACATGTAAACTTTGTCAGAGATAATTGGGAGGAGTATGTAGAAGAATCGG
ATTATTGTTAATTTTGGTAGGTCTGATAATGGTTTTATAGTATAAAGGCTGAGTACCCCTTATCCAAAATGATTAAGATCAGAAGTGTTT
TGGCTTTCACATTTTTTTGGATTTTGGAATTTTGCCTATAATAATGAGACATCTTGGGGATGGGATGCAAGTCTAACCACAAAATTCATT
TATGTCTCATACACACTTTGAACACCTGGCCTGAAGGTAATTTCACACAATATTTTAAATAACTTTGTGCATGAAACACAATTTTGACTG
CATTTTGACTGCAACTCATCACATGAGGTCAGGTATGGAATTTTCCACTTGTGGTGTTACGTTACTGGCTCAAAAAGTTTTGGATCTCGG
AGCATTCTGGATTTTGAATTTTTGGATTAGTGATGCTCAACCTGTATACAGAAATGTCCTCATTTTTAAAAAAAGAAATGCATATTTATA
TGTTTTAAAATTACTTCAACCAAAAGCAACGGGGAGATGTTTACTGTTATATTTAGGTGACAGGTACATGGCAATTCATTATACCCTCCT
ATTTTCCTATGTTTACATTATTCATTAATTAAAAAACAATACCTAGAAAAACCCAAGACTTTCAAAAGCTATTTTCTATATGTGCCAATC


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FusionGenePPI for ATP6V0A4_TM4SF20


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
ATP6V0A4PFKM, HYPKTM4SF20VKORC1L1, MBOAT7, HSDL1, TMEM186, CAB39, TMEM43, CD74, RHOA, FAM210B, C10orf35, EBP, LMNA


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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RelatedDrugs for ATP6V0A4_TM4SF20


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for ATP6V0A4_TM4SF20


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneATP6V0A4C1864498RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE2CTD_human;ORPHANET;UNIPROT