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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:ANKRD27-ATP5C1 (FusionGDB2 ID:HG84079TG509)

Fusion Gene Summary for ANKRD27-ATP5C1

check button Fusion gene summary
Fusion gene informationFusion gene name: ANKRD27-ATP5C1
Fusion gene ID: hg84079tg509
HgeneTgene
Gene symbol

ANKRD27

ATP5C1

Gene ID

84079

509

Gene nameankyrin repeat domain 27ATP synthase F1 subunit gamma
SynonymsPP12899|VARPATP5C|ATP5C1|ATP5CL1
Cytomap('ANKRD27')('ATP5C1')

19q13.11

10p14

Type of geneprotein-codingprotein-coding
Descriptionankyrin repeat domain-containing protein 27VPS9 domain-containing proteinVPS9-ankyrin-repeat proteinVps9 domain and ankyrin-repeat-containing proteinankyrin repeat domain 27 (VPS9 domain)ATP synthase subunit gamma, mitochondrialATP synthase gamma chain, mitochondrialATP synthase, H+ transporting, mitochondrial F1 complex, gamma polypeptide 1F-ATPase gamma subunitmitochondrial ATP synthase, gamma subunit 1
Modification date2020031320200320
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000306065, ENST00000587352, 
Fusion gene scores* DoF score14 X 14 X 8=156811 X 9 X 7=693
# samples 1613
** MAII scorelog2(16/1568*10)=-3.29278174922785
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(13/693*10)=-2.41434372910876
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ANKRD27 [Title/Abstract] AND ATP5C1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointANKRD27(33135230)-ATP5C1(7839009), # samples:1
Anticipated loss of major functional domain due to fusion event.ANKRD27-ATP5C1 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.
ANKRD27-ATP5C1 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.
* 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
HgeneANKRD27

GO:0035544

negative regulation of SNARE complex assembly

24856514

HgeneANKRD27

GO:0045022

early endosome to late endosome transport

16525121

TgeneATP5C1

GO:0042776

mitochondrial ATP synthesis coupled proton transport

12110673


check buttonFusion gene breakpoints across ANKRD27 (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 ATP5C1 (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 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
ChimerDB4OVTCGA-23-1109ANKRD27chr19

33135230

-ATP5C1chr10

7839009

+


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Fusion Gene ORF analysis for ANKRD27-ATP5C1

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-3UTRENST00000306065ENST00000493053ANKRD27chr19

33135230

-ATP5C1chr10

7839009

+
5CDS-3UTRENST00000587352ENST00000493053ANKRD27chr19

33135230

-ATP5C1chr10

7839009

+
5CDS-5UTRENST00000306065ENST00000335698ANKRD27chr19

33135230

-ATP5C1chr10

7839009

+
5CDS-5UTRENST00000306065ENST00000541227ANKRD27chr19

33135230

-ATP5C1chr10

7839009

+
5CDS-5UTRENST00000587352ENST00000335698ANKRD27chr19

33135230

-ATP5C1chr10

7839009

+
5CDS-5UTRENST00000587352ENST00000541227ANKRD27chr19

33135230

-ATP5C1chr10

7839009

+
In-frameENST00000306065ENST00000356708ANKRD27chr19

33135230

-ATP5C1chr10

7839009

+
In-frameENST00000587352ENST00000356708ANKRD27chr19

33135230

-ATP5C1chr10

7839009

+

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)
ENST00000306065ANKRD27chr1933135230-ENST00000356708ATP5C1chr107839009+16776846531489278
ENST00000587352ANKRD27chr1933135230-ENST00000356708ATP5C1chr107839009+16476546231459278

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
ENST00000306065ENST00000356708ANKRD27chr1933135230-ATP5C1chr107839009+0.0011175380.9988825
ENST00000587352ENST00000356708ANKRD27chr1933135230-ATP5C1chr107839009+0.0011178780.9988821

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Fusion Genomic Features for ANKRD27-ATP5C1


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)
ANKRD27chr1933135230-ATP5C1chr107839009+3.63E-060.9999964
ANKRD27chr1933135230-ATP5C1chr107839009+3.63E-060.9999964

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

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.
genomic feature of top 1%

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Fusion Protein Features for ANKRD27-ATP5C1


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/chr19:33135230/chr10:7839009)
- 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
HgeneANKRD27chr19:33135230chr10:7839009ENST00000306065-529233_3711751051.0DomainVPS9
HgeneANKRD27chr19:33135230chr10:7839009ENST00000306065-5291_3721751051.0RegionSufficient for GEF activity towards RAB21
HgeneANKRD27chr19:33135230chr10:7839009ENST00000306065-529396_4261751051.0RepeatNote=ANK 1
HgeneANKRD27chr19:33135230chr10:7839009ENST00000306065-529462_4911751051.0RepeatNote=ANK 2
HgeneANKRD27chr19:33135230chr10:7839009ENST00000306065-529495_5241751051.0RepeatNote=ANK 3
HgeneANKRD27chr19:33135230chr10:7839009ENST00000306065-529528_5601751051.0RepeatNote=ANK 4
HgeneANKRD27chr19:33135230chr10:7839009ENST00000306065-529564_5931751051.0RepeatNote=ANK 5
HgeneANKRD27chr19:33135230chr10:7839009ENST00000306065-529597_6271751051.0RepeatNote=ANK 6
HgeneANKRD27chr19:33135230chr10:7839009ENST00000306065-529668_6981751051.0RepeatNote=ANK 7
HgeneANKRD27chr19:33135230chr10:7839009ENST00000306065-529743_7721751051.0RepeatNote=ANK 8
HgeneANKRD27chr19:33135230chr10:7839009ENST00000306065-529776_8051751051.0RepeatNote=ANK 9
HgeneANKRD27chr19:33135230chr10:7839009ENST00000306065-529809_8381751051.0RepeatNote=ANK 10
HgeneANKRD27chr19:33135230chr10:7839009ENST00000306065-529842_8711751051.0RepeatNote=ANK 11


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Fusion Gene Sequence for ANKRD27-ATP5C1


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.
>4645_4645_1_ANKRD27-ATP5C1_ANKRD27_chr19_33135230_ENST00000306065_ATP5C1_chr10_7839009_ENST00000356708_length(transcript)=1677nt_BP=684nt
GGAGTAAGGGGTGGGCTATAGGGCCAGATCGCCGCGCGAGGGTGGTGGGCATCGAGGTCCCAGCAGCGGACGAGGGAGGTGCCGCCGTCG
CCCAGGATGGGCTGGGAATGAAGCGATGTAGCCTTTTAAGAGATTTGCTCTGACCCATCTGAAGTCCATATGGCTCTGTATGATGAAGAC
CTCCTGAAAAATCCTTTCTATCTGGCTCTGCAAAAGTGCCGCCCTGACTTGTGCAGCAAAGTGGCCCAAATCCATGGCATTGTCTTAGTA
CCCTGCAAAGGAAGCCTGTCGAGCAGCATCCAGTCTACTTGTCAGTTTGAGTCCTACATTTTGATACCTGTGGAAGAGCATTTTCAGACC
TTAAATGGAAAGGATGTCTTTATTCAAGGGAACAGGATTAAATTAGGAGCTGGTTTTGCCTGTCTTCTCTCAGTGCCCATTCTCTTTGAA
GAAACTTTCTACAATGAAAAAGAAGAGAGTTTCAGCATCCTGTGTATAGCCCATCCTTTGGAAAAGAGAGAGAGTTCAGAAGAGCCTTTG
GCACCCTCAGATCCCTTTTCCCTGAAAACCATTGAAGATGTGAGAGAGTTCTTGGGAAGACACTCCGAGCGATTTGACAGGAACATCGCC
TCTTTCCATCGAACATTCCGAGAATGCGAGAGAAAGAGCCTCCGTCACCACATATCACCAGGAGACTAAAGTCCATCAAAAACATCCAGA
AAATTACCAAGTCTATGAAAATGGTAGCGGCAGCAAAATATGCCCGAGCTGAGAGAGAGCTGAAACCAGCTCGAATATATGGATTGGGAT
CTTTAGCTCTGTATGAAAAAGCTGATATCAAGGGGCCTGAAGACAAGAAGAAACACCTCCTTATTGGTGTGTCCTCAGATCGAGGACTGT
GTGGTGCTATTCATTCCTCCATTGCTAAACAGATGAAAAGCGAGGTTGCTACACTAACAGCAGCTGGGAAAGAAGTTATGCTTGTTGGAA
TTGGTGACAAAATCAGAGGCATACTTTATAGGACTCATTCTGACCAGTTTCTGGTGGCATTCAAAGAAGTGGGAAGAAAGCCCCCCACTT
TTGGAGATGCGTCAGTCATTGCCCTTGAATTACTAAATTCTGGATATGAATTTGATGAAGGCTCCATCATCTTTAATAAATTCAGGTCTG
TCATCTCCTATAAGACAGAAGAAAAGCCCATCTTTTCCCTTAATACCGTTGCAAGTGCTGACAGCATGAGTATCTATGACGATATTGATG
CTGACGTGCTGCAAAATTACCAAGAATACAATCTGGCCAACATCATCTACTACTCTCTGAAGGAGTCCACCACTAGTGAGCAGAGTGCCA
GGATGACAGCCATGGACAATGCCAGCAAGAATGCTTCTGAGATGATTGACAAATTGACATTGACATTCAACCGTACCCGCCAAGCTGTCA
TCACAAAAGAGTTGATTGAAATTATCTCTGGTGCTGCAGCTCTGGATTAATGAAAATCAAGTTCCATCCTCAGACAAGAGGTAAAGAAGG
AAAATTCAGCCAGTTGATTTTGTTTTTAGCTTACTGCTGCCTTTGTCCGAAGAAACTGTTCCTCCATTATTTGAATTACTGAAGACAGCA

>4645_4645_1_ANKRD27-ATP5C1_ANKRD27_chr19_33135230_ENST00000306065_ATP5C1_chr10_7839009_ENST00000356708_length(amino acids)=278AA_BP=11
MREKEPPSPHITRRLKSIKNIQKITKSMKMVAAAKYARAERELKPARIYGLGSLALYEKADIKGPEDKKKHLLIGVSSDRGLCGAIHSSI
AKQMKSEVATLTAAGKEVMLVGIGDKIRGILYRTHSDQFLVAFKEVGRKPPTFGDASVIALELLNSGYEFDEGSIIFNKFRSVISYKTEE
KPIFSLNTVASADSMSIYDDIDADVLQNYQEYNLANIIYYSLKESTTSEQSARMTAMDNASKNASEMIDKLTLTFNRTRQAVITKELIEI

--------------------------------------------------------------
>4645_4645_2_ANKRD27-ATP5C1_ANKRD27_chr19_33135230_ENST00000587352_ATP5C1_chr10_7839009_ENST00000356708_length(transcript)=1647nt_BP=654nt
GCCGCGCGAGGGTGGTGGGCATCGAGGTCCCAGCAGCGGACGAGGGAGGTGCCGCCGTCGCCCAGGATGGGCTGGGAATGAAGCGATGTA
GCCTTTTAAGAGATTTGCTCTGACCCATCTGAAGTCCATATGGCTCTGTATGATGAAGACCTCCTGAAAAATCCTTTCTATCTGGCTCTG
CAAAAGTGCCGCCCTGACTTGTGCAGCAAAGTGGCCCAAATCCATGGCATTGTCTTAGTACCCTGCAAAGGAAGCCTGTCGAGCAGCATC
CAGTCTACTTGTCAGTTTGAGTCCTACATTTTGATACCTGTGGAAGAGCATTTTCAGACCTTAAATGGAAAGGATGTCTTTATTCAAGGG
AACAGGATTAAATTAGGAGCTGGTTTTGCCTGTCTTCTCTCAGTGCCCATTCTCTTTGAAGAAACTTTCTACAATGAAAAAGAAGAGAGT
TTCAGCATCCTGTGTATAGCCCATCCTTTGGAAAAGAGAGAGAGTTCAGAAGAGCCTTTGGCACCCTCAGATCCCTTTTCCCTGAAAACC
ATTGAAGATGTGAGAGAGTTCTTGGGAAGACACTCCGAGCGATTTGACAGGAACATCGCCTCTTTCCATCGAACATTCCGAGAATGCGAG
AGAAAGAGCCTCCGTCACCACATATCACCAGGAGACTAAAGTCCATCAAAAACATCCAGAAAATTACCAAGTCTATGAAAATGGTAGCGG
CAGCAAAATATGCCCGAGCTGAGAGAGAGCTGAAACCAGCTCGAATATATGGATTGGGATCTTTAGCTCTGTATGAAAAAGCTGATATCA
AGGGGCCTGAAGACAAGAAGAAACACCTCCTTATTGGTGTGTCCTCAGATCGAGGACTGTGTGGTGCTATTCATTCCTCCATTGCTAAAC
AGATGAAAAGCGAGGTTGCTACACTAACAGCAGCTGGGAAAGAAGTTATGCTTGTTGGAATTGGTGACAAAATCAGAGGCATACTTTATA
GGACTCATTCTGACCAGTTTCTGGTGGCATTCAAAGAAGTGGGAAGAAAGCCCCCCACTTTTGGAGATGCGTCAGTCATTGCCCTTGAAT
TACTAAATTCTGGATATGAATTTGATGAAGGCTCCATCATCTTTAATAAATTCAGGTCTGTCATCTCCTATAAGACAGAAGAAAAGCCCA
TCTTTTCCCTTAATACCGTTGCAAGTGCTGACAGCATGAGTATCTATGACGATATTGATGCTGACGTGCTGCAAAATTACCAAGAATACA
ATCTGGCCAACATCATCTACTACTCTCTGAAGGAGTCCACCACTAGTGAGCAGAGTGCCAGGATGACAGCCATGGACAATGCCAGCAAGA
ATGCTTCTGAGATGATTGACAAATTGACATTGACATTCAACCGTACCCGCCAAGCTGTCATCACAAAAGAGTTGATTGAAATTATCTCTG
GTGCTGCAGCTCTGGATTAATGAAAATCAAGTTCCATCCTCAGACAAGAGGTAAAGAAGGAAAATTCAGCCAGTTGATTTTGTTTTTAGC
TTACTGCTGCCTTTGTCCGAAGAAACTGTTCCTCCATTATTTGAATTACTGAAGACAGCAAGATATTTGTAAATTATCTTAAAATAAACA

>4645_4645_2_ANKRD27-ATP5C1_ANKRD27_chr19_33135230_ENST00000587352_ATP5C1_chr10_7839009_ENST00000356708_length(amino acids)=278AA_BP=11
MREKEPPSPHITRRLKSIKNIQKITKSMKMVAAAKYARAERELKPARIYGLGSLALYEKADIKGPEDKKKHLLIGVSSDRGLCGAIHSSI
AKQMKSEVATLTAAGKEVMLVGIGDKIRGILYRTHSDQFLVAFKEVGRKPPTFGDASVIALELLNSGYEFDEGSIIFNKFRSVISYKTEE
KPIFSLNTVASADSMSIYDDIDADVLQNYQEYNLANIIYYSLKESTTSEQSARMTAMDNASKNASEMIDKLTLTFNRTRQAVITKELIEI

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

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Fusion Gene PPI Analysis for ANKRD27-ATP5C1


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
HgeneANKRD27chr19:33135230chr10:7839009ENST00000306065-529451_730175.01051.0RAB32
HgeneANKRD27chr19:33135230chr10:7839009ENST00000306065-529451_600175.01051.0RAB38


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 ANKRD27-ATP5C1


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 ANKRD27-ATP5C1


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