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in Kim Lab

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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:ATP6V1H-RB1CC1 (FusionGDB2 ID:HG51606TG9821)

Fusion Gene Summary for ATP6V1H-RB1CC1

check button Fusion gene summary
Fusion gene informationFusion gene name: ATP6V1H-RB1CC1
Fusion gene ID: hg51606tg9821
HgeneTgene
Gene symbol

ATP6V1H

RB1CC1

Gene ID

51606

9821

Gene nameATPase H+ transporting V1 subunit HRB1 inducible coiled-coil 1
SynonymsCGI-11|MSTP042|NBP1|SFD|SFDalpha|SFDbeta|VMA13ATG17|CC1|FIP200|PPP1R131
Cytomap('ATP6V1H')('RB1CC1')

8q11.23

8q11.23

Type of geneprotein-codingprotein-coding
DescriptionV-type proton ATPase subunit HATPase, H+ transporting, lysosomal 50/57kDa, V1 subunit HV-ATPase 50/57 kDa subunitsV-ATPase subunit Hnef-binding protein 1protein VMA13 homologvacuolar ATP synthase subunit Hvacuolar ATPase subunit Hvacuolar proton pRB1-inducible coiled-coil protein 1200 kDa FAK family kinase-interacting proteinFAK family kinase-interacting protein of 200 kDaphosphatase 1, regulatory subunit 131
Modification date2020031320200327
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000355221, ENST00000359530, 
ENST00000396774, ENST00000520188, 
ENST00000523899, 		ENST00000355221, 
ENST00000359530, ENST00000520188, 
ENST00000396774, ENST00000523899, 
Fusion gene scores* DoF score11 X 11 X 8=96810 X 8 X 7=560
# samples 1511
** MAII scorelog2(15/968*10)=-2.69004454677871
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(11/560*10)=-2.34792330342031
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ATP6V1H [Title/Abstract] AND RB1CC1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointATP6V1H(54745543)-RB1CC1(53543088), # samples:1
Anticipated loss of major functional domain due to fusion event.ATP6V1H-RB1CC1 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.
ATP6V1H-RB1CC1 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.
ATP6V1H-RB1CC1 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
ATP6V1H-RB1CC1 seems lost the major protein functional domain in Hgene partner, which is a IUPHAR drug target due to the frame-shifted ORF.
ATP6V1H-RB1CC1 seems lost the major protein functional domain in Tgene partner, which is a tumor suppressor 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
HgeneATP6V1H

GO:0006897

endocytosis

12032142


check buttonFusion gene breakpoints across ATP6V1H (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 RB1CC1 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

check button Fusion gene information
* 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
ChimerDB4OVTCGA-04-1361ATP6V1Hchr8

54745543

-RB1CC1chr8

53543088

-


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Fusion Gene ORF analysis for ATP6V1H-RB1CC1

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
5CDS-intronENST00000355221ENST00000521611ATP6V1Hchr8

54745543

-RB1CC1chr8

53543088

-
5CDS-intronENST00000355221ENST00000539297ATP6V1Hchr8

54745543

-RB1CC1chr8

53543088

-
5CDS-intronENST00000359530ENST00000521611ATP6V1Hchr8

54745543

-RB1CC1chr8

53543088

-
5CDS-intronENST00000359530ENST00000539297ATP6V1Hchr8

54745543

-RB1CC1chr8

53543088

-
5CDS-intronENST00000396774ENST00000521611ATP6V1Hchr8

54745543

-RB1CC1chr8

53543088

-
5CDS-intronENST00000396774ENST00000539297ATP6V1Hchr8

54745543

-RB1CC1chr8

53543088

-
5CDS-intronENST00000520188ENST00000521611ATP6V1Hchr8

54745543

-RB1CC1chr8

53543088

-
5CDS-intronENST00000520188ENST00000539297ATP6V1Hchr8

54745543

-RB1CC1chr8

53543088

-
Frame-shiftENST00000396774ENST00000025008ATP6V1Hchr8

54745543

-RB1CC1chr8

53543088

-
Frame-shiftENST00000396774ENST00000435644ATP6V1Hchr8

54745543

-RB1CC1chr8

53543088

-
Frame-shiftENST00000520188ENST00000025008ATP6V1Hchr8

54745543

-RB1CC1chr8

53543088

-
Frame-shiftENST00000520188ENST00000435644ATP6V1Hchr8

54745543

-RB1CC1chr8

53543088

-
In-frameENST00000355221ENST00000025008ATP6V1Hchr8

54745543

-RB1CC1chr8

53543088

-
In-frameENST00000355221ENST00000435644ATP6V1Hchr8

54745543

-RB1CC1chr8

53543088

-
In-frameENST00000359530ENST00000025008ATP6V1Hchr8

54745543

-RB1CC1chr8

53543088

-
In-frameENST00000359530ENST00000435644ATP6V1Hchr8

54745543

-RB1CC1chr8

53543088

-
intron-3CDSENST00000523899ENST00000025008ATP6V1Hchr8

54745543

-RB1CC1chr8

53543088

-
intron-3CDSENST00000523899ENST00000435644ATP6V1Hchr8

54745543

-RB1CC1chr8

53543088

-
intron-intronENST00000523899ENST00000521611ATP6V1Hchr8

54745543

-RB1CC1chr8

53543088

-
intron-intronENST00000523899ENST00000539297ATP6V1Hchr8

54745543

-RB1CC1chr8

53543088

-

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)
ENST00000355221ATP6V1Hchr854745543-ENST00000025008RB1CC1chr853543088-24477765601120186
ENST00000355221ATP6V1Hchr854745543-ENST00000435644RB1CC1chr853543088-24357765601111183
ENST00000359530ATP6V1Hchr854745543-ENST00000025008RB1CC1chr853543088-2151480264824186
ENST00000359530ATP6V1Hchr854745543-ENST00000435644RB1CC1chr853543088-2139480264815183

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
ENST00000355221ENST00000025008ATP6V1Hchr854745543-RB1CC1chr853543088-0.0004615630.9995384
ENST00000355221ENST00000435644ATP6V1Hchr854745543-RB1CC1chr853543088-0.0004305970.99956936
ENST00000359530ENST00000025008ATP6V1Hchr854745543-RB1CC1chr853543088-0.0004159290.999584
ENST00000359530ENST00000435644ATP6V1Hchr854745543-RB1CC1chr853543088-0.0004599710.9995401

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Fusion Genomic Features for ATP6V1H-RB1CC1


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.
genomic feature

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Fusion Protein Features for ATP6V1H-RB1CC1


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/chr8:54745543/chr8:53543088)
- 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
..
FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.

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
TgeneRB1CC1chr8:54745543chr8:53543088ENST0000002500819241438_148514801595.0Coiled coilOntology_term=ECO:0000255
TgeneRB1CC1chr8:54745543chr8:53543088ENST000000250081924859_139714801595.0Coiled coilOntology_term=ECO:0000255
TgeneRB1CC1chr8:54745543chr8:53543088ENST0000043564419241438_148514801592.0Coiled coilOntology_term=ECO:0000255
TgeneRB1CC1chr8:54745543chr8:53543088ENST000004356441924859_139714801592.0Coiled coilOntology_term=ECO:0000255
TgeneRB1CC1chr8:54745543chr8:53543088ENST0000053929717221438_148514801592.0Coiled coilOntology_term=ECO:0000255
TgeneRB1CC1chr8:54745543chr8:53543088ENST000005392971722859_139714801592.0Coiled coilOntology_term=ECO:0000255
TgeneRB1CC1chr8:54745543chr8:53543088ENST000000250081924663_66614801595.0Compositional biasNote=Poly-Thr
TgeneRB1CC1chr8:54745543chr8:53543088ENST000004356441924663_66614801592.0Compositional biasNote=Poly-Thr
TgeneRB1CC1chr8:54745543chr8:53543088ENST000005392971722663_66614801592.0Compositional biasNote=Poly-Thr
TgeneRB1CC1chr8:54745543chr8:53543088ENST000000250081924566_56914801595.0MotifNuclear localization signal
TgeneRB1CC1chr8:54745543chr8:53543088ENST000004356441924566_56914801592.0MotifNuclear localization signal
TgeneRB1CC1chr8:54745543chr8:53543088ENST000005392971722566_56914801592.0MotifNuclear localization signal


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Fusion Gene Sequence for ATP6V1H-RB1CC1


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.
>8215_8215_1_ATP6V1H-RB1CC1_ATP6V1H_chr8_54745543_ENST00000355221_RB1CC1_chr8_53543088_ENST00000025008_length(transcript)=2447nt_BP=776nt
AGCTGCTTCCGGGCGGAGGTCCTCGGCCTCCCCTAGGCGAGGCACTAGGTCTGGGGGCGGCGGGTCTTAGCGTGCCCGCCACGCTCGCCG
CCTCCCACCTGCCCTGGCTGGCTGGGGCCCGACCCTTGCGTCGCTCCGGGGCCCAAGTTACGGACTCGGGAATCCAGTTGTCCGCACCGA
ACAAGCCCCGCCGCAGCGCCCGCCCCTCCTCTTGCTGCTTTGGAGTCTCCCGGCTTCCGCCTTCCGCAGCAGTCACGTGCCTCCGATCAC
GTGACCGGCGCCTCTGTCATTCTACTGCGGCCGCCCTGGCTTCCTTCTACCTGTGCGGCCCTCAACGTCTCCTTGGTGCGGGACCCGCTT
CACTTTCGGCTCCCGGAGTCTCCCTCCACTGCTCAGACCTCTGGACCTGACAGGAGACGCCTACTTGGCTCTGACGCGGCGCCCCAGCCC
GGCTGTGTCCCCGGCGCCCCGGACCACCCTCCCTGCCGGCTTTGGGTGCGTTGTGGGGTCCCGAGGATTCGCGAGATTTGTTGAAAGACA
TTCAAGATTACGAAGTTTAGATGACCAAAATGGATATCCGAGGTGCTGTGGATGCTGCTGTCCCCACCAATATTATTGCTGCCAAGGCTG
CAGAAGTTCGTGCAAACAAAGTCAACTGGCAATCCTATCTTCAGGGACAGATGATTTCTGCTGAAGATTGTGAGTTTATTCAGAGGTTTG
AAATGAAACGAAGCCCTGAAGAGAAGCAAGAGATGCTTCAAACTGAAGGCAGCCAGATGTCTCAGAGCATGTCTTCAGTATCTTCAAGGC
ATTCTGAAAAGATAGCTATTAGAGATTTTCAGGTGGGAGATTTGGTACTCATCATCCTAGACGAACGCCATGACAATTATGTGTTATTTA
CTGTTAGTCCTACTTTATATTTTCTACATTCAGAGTCTCTACCTGCCCTGGATCTCAAACCAGGTGAGGGTGCTTCAGGTGCATCTAGAA
GACCCTGGGTACTTGGAAAAGTAATGGAAAAAGAATACTGTCAAGCCAAAAAGGCACAAAACAGATTTAAAGTTCCTTTGGGGACAAAGT
TTTACAGAGTGAAAGCCGTATCATGGAATAAGAAAGTATAACTTATGGACAAAATTAATACATTCTATGACATTTTTTTCTGATTTGTCC
TGCAGTGCTCATTCATCACTCCAAAAACAGCAGGCCATCTTTTTATGCAAAAGTCAGCGTGACAATATACTTCACTGGTGTACATCGTTT
ACTTTTTAACTGGCTTCATTTTAGGAATAATAAATTCATCAGAATCCTTGGCTGAATTAAAATGGTTTTTGTTTTTTGGTTTTTTTTTTT
ACCCAGACAACTCTAGAAATGCGGACCAAACTACTTCATTTTCTCAAAGGGCATACCTTGTGCATTGTGGCTTATGATGAGCCATATTAA
TTGCCTGTTAAATATACACTAGCTTGAACTTAGATGTTAAATGTTATTATTACCAGCATTTGTCCTTTTGTGAAATCAGTATCAGAATAC
TTGCACTCTTTAACACATTCTTTATAAAATGTATAAATTATTCAGAACTATTTAAAATAAAGAGGAGTGTTATTGCATGCTGATAATCAT
TTTGAGTTTGCCTCAGTAGATACTAAAGCAAATTGTTTCAGTTTTTTTAAATGCCCTTTGATGTTTCAAAAAAAAAAAGGAACTGTAATT
TGATTGACTGATTTTAAGATCAGCCATAAGTAATCAGCAATCTTCAAAAGCACTTTCAGTGGATTGGTCATCTGGGTTCTAAAGGGAAGA
GTCTGTGCTACTAACCATTTCAAATGCAGACTCAAACCTTCCCAACATCTTTATGACTCTAGAATAATCATATTGATGAAATCGTAATTC
ATGGTTGAGTTTCAGAACAAAAGATATTCATTGCACATTAACCATTTAGAGGTCATTTAAATAACAAAATATTGTATTGTAAAAGAACTG
TACAATTTTAAAACAATAAAGATTTGAACCTGTAAATGTGTGTGCCTTTTAAAGAAGGATACATTTTTAATATATTTGAGTGATTGCTGG
GAAGTGTGAAAATATTGTTATGTATCATATCAAAGAGAAACATGTTTATTACAAAAATGTTCTTTAACTATATACTATGTAACAGGGTAA
ACAGTGTTATGTAGAATAGAATTGTGTAAACTAGATCTTTAGAGAAGTTGCCATTGAGCAAAGTTATTTAAATGAGTTAGTTGAGTTGGA
TGAGAATTGTTTGAGGTTTGTTGCTAGAGAACAATAATAAAATAATTCTTTTTCAGAAAATATTTAATTTCTTCATAAAAATAAGTTAAA
TATTTTTTTAAATATGTATATCTAATAGTACAAAATGGAATAAACATCATAGTGTATAGAAAACTGAATTTGACAAGTTAATGAATAAAT
GAACAAATGATTTCACA

>8215_8215_1_ATP6V1H-RB1CC1_ATP6V1H_chr8_54745543_ENST00000355221_RB1CC1_chr8_53543088_ENST00000025008_length(amino acids)=186AA_BP=72
MTKMDIRGAVDAAVPTNIIAAKAAEVRANKVNWQSYLQGQMISAEDCEFIQRFEMKRSPEEKQEMLQTEGSQMSQSMSSVSSRHSEKIAI
RDFQVGDLVLIILDERHDNYVLFTVSPTLYFLHSESLPALDLKPGEGASGASRRPWVLGKVMEKEYCQAKKAQNRFKVPLGTKFYRVKAV
SWNKKV

--------------------------------------------------------------
>8215_8215_2_ATP6V1H-RB1CC1_ATP6V1H_chr8_54745543_ENST00000355221_RB1CC1_chr8_53543088_ENST00000435644_length(transcript)=2435nt_BP=776nt
AGCTGCTTCCGGGCGGAGGTCCTCGGCCTCCCCTAGGCGAGGCACTAGGTCTGGGGGCGGCGGGTCTTAGCGTGCCCGCCACGCTCGCCG
CCTCCCACCTGCCCTGGCTGGCTGGGGCCCGACCCTTGCGTCGCTCCGGGGCCCAAGTTACGGACTCGGGAATCCAGTTGTCCGCACCGA
ACAAGCCCCGCCGCAGCGCCCGCCCCTCCTCTTGCTGCTTTGGAGTCTCCCGGCTTCCGCCTTCCGCAGCAGTCACGTGCCTCCGATCAC
GTGACCGGCGCCTCTGTCATTCTACTGCGGCCGCCCTGGCTTCCTTCTACCTGTGCGGCCCTCAACGTCTCCTTGGTGCGGGACCCGCTT
CACTTTCGGCTCCCGGAGTCTCCCTCCACTGCTCAGACCTCTGGACCTGACAGGAGACGCCTACTTGGCTCTGACGCGGCGCCCCAGCCC
GGCTGTGTCCCCGGCGCCCCGGACCACCCTCCCTGCCGGCTTTGGGTGCGTTGTGGGGTCCCGAGGATTCGCGAGATTTGTTGAAAGACA
TTCAAGATTACGAAGTTTAGATGACCAAAATGGATATCCGAGGTGCTGTGGATGCTGCTGTCCCCACCAATATTATTGCTGCCAAGGCTG
CAGAAGTTCGTGCAAACAAAGTCAACTGGCAATCCTATCTTCAGGGACAGATGATTTCTGCTGAAGATTGTGAGTTTATTCAGAGGTTTG
AAATGAAACGAAGCCCTGAAGAGAAGCAAGAGATGCTTCAAACTGAAGGCAGCCAGATGTCTCAGAGCATGTCTTCAGTATCTTCAAGGC
ATTCTGAAAAGATAGCTATTAGAGATTTTCAGGTGGGAGATTTGGTACTCATCATCCTAGACGAACGCCATGACAATTATGTGTTATTTA
CTGTTAGTCCTACTTTATATTTTCTACATTCAGAGTCTCTACCTGCCCTGGATCTCAAACCAGCTTCAGGTGCATCTAGAAGACCCTGGG
TACTTGGAAAAGTAATGGAAAAAGAATACTGTCAAGCCAAAAAGGCACAAAACAGATTTAAAGTTCCTTTGGGGACAAAGTTTTACAGAG
TGAAAGCCGTATCATGGAATAAGAAAGTATAACTTATGGACAAAATTAATACATTCTATGACATTTTTTTCTGATTTGTCCTGCAGTGCT
CATTCATCACTCCAAAAACAGCAGGCCATCTTTTTATGCAAAAGTCAGCGTGACAATATACTTCACTGGTGTACATCGTTTACTTTTTAA
CTGGCTTCATTTTAGGAATAATAAATTCATCAGAATCCTTGGCTGAATTAAAATGGTTTTTGTTTTTTGGTTTTTTTTTTTACCCAGACA
ACTCTAGAAATGCGGACCAAACTACTTCATTTTCTCAAAGGGCATACCTTGTGCATTGTGGCTTATGATGAGCCATATTAATTGCCTGTT
AAATATACACTAGCTTGAACTTAGATGTTAAATGTTATTATTACCAGCATTTGTCCTTTTGTGAAATCAGTATCAGAATACTTGCACTCT
TTAACACATTCTTTATAAAATGTATAAATTATTCAGAACTATTTAAAATAAAGAGGAGTGTTATTGCATGCTGATAATCATTTTGAGTTT
GCCTCAGTAGATACTAAAGCAAATTGTTTCAGTTTTTTTAAATGCCCTTTGATGTTTCAAAAAAAAAAAGGAACTGTAATTTGATTGACT
GATTTTAAGATCAGCCATAAGTAATCAGCAATCTTCAAAAGCACTTTCAGTGGATTGGTCATCTGGGTTCTAAAGGGAAGAGTCTGTGCT
ACTAACCATTTCAAATGCAGACTCAAACCTTCCCAACATCTTTATGACTCTAGAATAATCATATTGATGAAATCGTAATTCATGGTTGAG
TTTCAGAACAAAAGATATTCATTGCACATTAACCATTTAGAGGTCATTTAAATAACAAAATATTGTATTGTAAAAGAACTGTACAATTTT
AAAACAATAAAGATTTGAACCTGTAAATGTGTGTGCCTTTTAAAGAAGGATACATTTTTAATATATTTGAGTGATTGCTGGGAAGTGTGA
AAATATTGTTATGTATCATATCAAAGAGAAACATGTTTATTACAAAAATGTTCTTTAACTATATACTATGTAACAGGGTAAACAGTGTTA
TGTAGAATAGAATTGTGTAAACTAGATCTTTAGAGAAGTTGCCATTGAGCAAAGTTATTTAAATGAGTTAGTTGAGTTGGATGAGAATTG
TTTGAGGTTTGTTGCTAGAGAACAATAATAAAATAATTCTTTTTCAGAAAATATTTAATTTCTTCATAAAAATAAGTTAAATATTTTTTT
AAATATGTATATCTAATAGTACAAAATGGAATAAACATCATAGTGTATAGAAAACTGAATTTGACAAGTTAATGAATAAATGAACAAATG
ATTTC

>8215_8215_2_ATP6V1H-RB1CC1_ATP6V1H_chr8_54745543_ENST00000355221_RB1CC1_chr8_53543088_ENST00000435644_length(amino acids)=183AA_BP=72
MTKMDIRGAVDAAVPTNIIAAKAAEVRANKVNWQSYLQGQMISAEDCEFIQRFEMKRSPEEKQEMLQTEGSQMSQSMSSVSSRHSEKIAI
RDFQVGDLVLIILDERHDNYVLFTVSPTLYFLHSESLPALDLKPASGASRRPWVLGKVMEKEYCQAKKAQNRFKVPLGTKFYRVKAVSWN
KKV

--------------------------------------------------------------
>8215_8215_3_ATP6V1H-RB1CC1_ATP6V1H_chr8_54745543_ENST00000359530_RB1CC1_chr8_53543088_ENST00000025008_length(transcript)=2151nt_BP=480nt
GCGGCCGCCCTGGCTTCCTTCTACCTGTGCGGCCCTCAACGTCTCCTTGGTGCGGGACCCGCTTCACTTTCGGCTCCCGGAGTCTCCCTC
CACTGCTCAGACCTCTGGACCTGACAGGAGACGCCTACTTGGCTCTGACGCGGCGCCCCAGCCCGGCTGTGTCCCCGGCGCCCCGGACCA
CCCTCCCTGCCGGCTTTGGGTGCGTTGTGGGGTCCCGAGGATTCGCGAGATTTGTTGAAAGACATTCAAGATTACGAAGTTTAGATGACC
AAAATGGATATCCGAGGTGCTGTGGATGCTGCTGTCCCCACCAATATTATTGCTGCCAAGGCTGCAGAAGTTCGTGCAAACAAAGTCAAC
TGGCAATCCTATCTTCAGGGACAGATGATTTCTGCTGAAGATTGTGAGTTTATTCAGAGGTTTGAAATGAAACGAAGCCCTGAAGAGAAG
CAAGAGATGCTTCAAACTGAAGGCAGCCAGATGTCTCAGAGCATGTCTTCAGTATCTTCAAGGCATTCTGAAAAGATAGCTATTAGAGAT
TTTCAGGTGGGAGATTTGGTACTCATCATCCTAGACGAACGCCATGACAATTATGTGTTATTTACTGTTAGTCCTACTTTATATTTTCTA
CATTCAGAGTCTCTACCTGCCCTGGATCTCAAACCAGGTGAGGGTGCTTCAGGTGCATCTAGAAGACCCTGGGTACTTGGAAAAGTAATG
GAAAAAGAATACTGTCAAGCCAAAAAGGCACAAAACAGATTTAAAGTTCCTTTGGGGACAAAGTTTTACAGAGTGAAAGCCGTATCATGG
AATAAGAAAGTATAACTTATGGACAAAATTAATACATTCTATGACATTTTTTTCTGATTTGTCCTGCAGTGCTCATTCATCACTCCAAAA
ACAGCAGGCCATCTTTTTATGCAAAAGTCAGCGTGACAATATACTTCACTGGTGTACATCGTTTACTTTTTAACTGGCTTCATTTTAGGA
ATAATAAATTCATCAGAATCCTTGGCTGAATTAAAATGGTTTTTGTTTTTTGGTTTTTTTTTTTACCCAGACAACTCTAGAAATGCGGAC
CAAACTACTTCATTTTCTCAAAGGGCATACCTTGTGCATTGTGGCTTATGATGAGCCATATTAATTGCCTGTTAAATATACACTAGCTTG
AACTTAGATGTTAAATGTTATTATTACCAGCATTTGTCCTTTTGTGAAATCAGTATCAGAATACTTGCACTCTTTAACACATTCTTTATA
AAATGTATAAATTATTCAGAACTATTTAAAATAAAGAGGAGTGTTATTGCATGCTGATAATCATTTTGAGTTTGCCTCAGTAGATACTAA
AGCAAATTGTTTCAGTTTTTTTAAATGCCCTTTGATGTTTCAAAAAAAAAAAGGAACTGTAATTTGATTGACTGATTTTAAGATCAGCCA
TAAGTAATCAGCAATCTTCAAAAGCACTTTCAGTGGATTGGTCATCTGGGTTCTAAAGGGAAGAGTCTGTGCTACTAACCATTTCAAATG
CAGACTCAAACCTTCCCAACATCTTTATGACTCTAGAATAATCATATTGATGAAATCGTAATTCATGGTTGAGTTTCAGAACAAAAGATA
TTCATTGCACATTAACCATTTAGAGGTCATTTAAATAACAAAATATTGTATTGTAAAAGAACTGTACAATTTTAAAACAATAAAGATTTG
AACCTGTAAATGTGTGTGCCTTTTAAAGAAGGATACATTTTTAATATATTTGAGTGATTGCTGGGAAGTGTGAAAATATTGTTATGTATC
ATATCAAAGAGAAACATGTTTATTACAAAAATGTTCTTTAACTATATACTATGTAACAGGGTAAACAGTGTTATGTAGAATAGAATTGTG
TAAACTAGATCTTTAGAGAAGTTGCCATTGAGCAAAGTTATTTAAATGAGTTAGTTGAGTTGGATGAGAATTGTTTGAGGTTTGTTGCTA
GAGAACAATAATAAAATAATTCTTTTTCAGAAAATATTTAATTTCTTCATAAAAATAAGTTAAATATTTTTTTAAATATGTATATCTAAT
AGTACAAAATGGAATAAACATCATAGTGTATAGAAAACTGAATTTGACAAGTTAATGAATAAATGAACAAATGATTTCACA

>8215_8215_3_ATP6V1H-RB1CC1_ATP6V1H_chr8_54745543_ENST00000359530_RB1CC1_chr8_53543088_ENST00000025008_length(amino acids)=186AA_BP=72
MTKMDIRGAVDAAVPTNIIAAKAAEVRANKVNWQSYLQGQMISAEDCEFIQRFEMKRSPEEKQEMLQTEGSQMSQSMSSVSSRHSEKIAI
RDFQVGDLVLIILDERHDNYVLFTVSPTLYFLHSESLPALDLKPGEGASGASRRPWVLGKVMEKEYCQAKKAQNRFKVPLGTKFYRVKAV
SWNKKV

--------------------------------------------------------------
>8215_8215_4_ATP6V1H-RB1CC1_ATP6V1H_chr8_54745543_ENST00000359530_RB1CC1_chr8_53543088_ENST00000435644_length(transcript)=2139nt_BP=480nt
GCGGCCGCCCTGGCTTCCTTCTACCTGTGCGGCCCTCAACGTCTCCTTGGTGCGGGACCCGCTTCACTTTCGGCTCCCGGAGTCTCCCTC
CACTGCTCAGACCTCTGGACCTGACAGGAGACGCCTACTTGGCTCTGACGCGGCGCCCCAGCCCGGCTGTGTCCCCGGCGCCCCGGACCA
CCCTCCCTGCCGGCTTTGGGTGCGTTGTGGGGTCCCGAGGATTCGCGAGATTTGTTGAAAGACATTCAAGATTACGAAGTTTAGATGACC
AAAATGGATATCCGAGGTGCTGTGGATGCTGCTGTCCCCACCAATATTATTGCTGCCAAGGCTGCAGAAGTTCGTGCAAACAAAGTCAAC
TGGCAATCCTATCTTCAGGGACAGATGATTTCTGCTGAAGATTGTGAGTTTATTCAGAGGTTTGAAATGAAACGAAGCCCTGAAGAGAAG
CAAGAGATGCTTCAAACTGAAGGCAGCCAGATGTCTCAGAGCATGTCTTCAGTATCTTCAAGGCATTCTGAAAAGATAGCTATTAGAGAT
TTTCAGGTGGGAGATTTGGTACTCATCATCCTAGACGAACGCCATGACAATTATGTGTTATTTACTGTTAGTCCTACTTTATATTTTCTA
CATTCAGAGTCTCTACCTGCCCTGGATCTCAAACCAGCTTCAGGTGCATCTAGAAGACCCTGGGTACTTGGAAAAGTAATGGAAAAAGAA
TACTGTCAAGCCAAAAAGGCACAAAACAGATTTAAAGTTCCTTTGGGGACAAAGTTTTACAGAGTGAAAGCCGTATCATGGAATAAGAAA
GTATAACTTATGGACAAAATTAATACATTCTATGACATTTTTTTCTGATTTGTCCTGCAGTGCTCATTCATCACTCCAAAAACAGCAGGC
CATCTTTTTATGCAAAAGTCAGCGTGACAATATACTTCACTGGTGTACATCGTTTACTTTTTAACTGGCTTCATTTTAGGAATAATAAAT
TCATCAGAATCCTTGGCTGAATTAAAATGGTTTTTGTTTTTTGGTTTTTTTTTTTACCCAGACAACTCTAGAAATGCGGACCAAACTACT
TCATTTTCTCAAAGGGCATACCTTGTGCATTGTGGCTTATGATGAGCCATATTAATTGCCTGTTAAATATACACTAGCTTGAACTTAGAT
GTTAAATGTTATTATTACCAGCATTTGTCCTTTTGTGAAATCAGTATCAGAATACTTGCACTCTTTAACACATTCTTTATAAAATGTATA
AATTATTCAGAACTATTTAAAATAAAGAGGAGTGTTATTGCATGCTGATAATCATTTTGAGTTTGCCTCAGTAGATACTAAAGCAAATTG
TTTCAGTTTTTTTAAATGCCCTTTGATGTTTCAAAAAAAAAAAGGAACTGTAATTTGATTGACTGATTTTAAGATCAGCCATAAGTAATC
AGCAATCTTCAAAAGCACTTTCAGTGGATTGGTCATCTGGGTTCTAAAGGGAAGAGTCTGTGCTACTAACCATTTCAAATGCAGACTCAA
ACCTTCCCAACATCTTTATGACTCTAGAATAATCATATTGATGAAATCGTAATTCATGGTTGAGTTTCAGAACAAAAGATATTCATTGCA
CATTAACCATTTAGAGGTCATTTAAATAACAAAATATTGTATTGTAAAAGAACTGTACAATTTTAAAACAATAAAGATTTGAACCTGTAA
ATGTGTGTGCCTTTTAAAGAAGGATACATTTTTAATATATTTGAGTGATTGCTGGGAAGTGTGAAAATATTGTTATGTATCATATCAAAG
AGAAACATGTTTATTACAAAAATGTTCTTTAACTATATACTATGTAACAGGGTAAACAGTGTTATGTAGAATAGAATTGTGTAAACTAGA
TCTTTAGAGAAGTTGCCATTGAGCAAAGTTATTTAAATGAGTTAGTTGAGTTGGATGAGAATTGTTTGAGGTTTGTTGCTAGAGAACAAT
AATAAAATAATTCTTTTTCAGAAAATATTTAATTTCTTCATAAAAATAAGTTAAATATTTTTTTAAATATGTATATCTAATAGTACAAAA
TGGAATAAACATCATAGTGTATAGAAAACTGAATTTGACAAGTTAATGAATAAATGAACAAATGATTTC

>8215_8215_4_ATP6V1H-RB1CC1_ATP6V1H_chr8_54745543_ENST00000359530_RB1CC1_chr8_53543088_ENST00000435644_length(amino acids)=183AA_BP=72
MTKMDIRGAVDAAVPTNIIAAKAAEVRANKVNWQSYLQGQMISAEDCEFIQRFEMKRSPEEKQEMLQTEGSQMSQSMSSVSSRHSEKIAI
RDFQVGDLVLIILDERHDNYVLFTVSPTLYFLHSESLPALDLKPASGASRRPWVLGKVMEKEYCQAKKAQNRFKVPLGTKFYRVKAVSWN
KKV

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

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Fusion Gene PPI Analysis for ATP6V1H-RB1CC1


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 ATP6V1H-RB1CC1


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 ATP6V1H-RB1CC1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneC0006142Malignant neoplasm of breast1CTD_human;UNIPROT
TgeneC0036341Schizophrenia1CTD_human
TgeneC0678222Breast Carcinoma1CTD_human
TgeneC1257931Mammary Neoplasms, Human1CTD_human
TgeneC1458155Mammary Neoplasms1CTD_human
TgeneC4704874Mammary Carcinoma, Human1CTD_human