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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:AKR1A1-C19orf53 (FusionGDB2 ID:HG10327TG28974)

Fusion Gene Summary for AKR1A1-C19orf53

check button Fusion gene summary
Fusion gene informationFusion gene name: AKR1A1-C19orf53
Fusion gene ID: hg10327tg28974
HgeneTgene
Gene symbol

AKR1A1

C19orf53

Gene ID

10327

28974

Gene namealdo-keto reductase family 1 member A1chromosome 19 open reading frame 53
SynonymsALDR1|ALR|ARM|DD3|HEL-S-6HSPC023|LYDG10
Cytomap('AKR1A1')('C19orf53')

1p34.1

19p13.13

Type of geneprotein-codingprotein-coding
Descriptionaldo-keto reductase family 1 member A1HEL-S-165mPalcohol dehydrogenasealdehyde reductasedihydrodiol dehydrogenase 3epididymis secretory protein Li 6epididymis secretory sperm binding protein Li 165mPglucuronate reductaseglucuronolactone reductaseleydig cell tumor 10 kDa protein homolog
Modification date2020031320200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000351829, ENST00000372070, 
ENST00000471651, ENST00000473038, 
Fusion gene scores* DoF score7 X 7 X 4=1964 X 4 X 5=80
# samples 75
** MAII scorelog2(7/196*10)=-1.48542682717024
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(5/80*10)=-0.678071905112638
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: AKR1A1 [Title/Abstract] AND C19orf53 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointAKR1A1(46032692)-C19orf53(13888866), # samples:1
Anticipated loss of major functional domain due to fusion event.AKR1A1-C19orf53 seems lost the major protein functional domain in Hgene partner, which is a cell metabolism gene due to the frame-shifted ORF.
AKR1A1-C19orf53 seems lost the major protein functional domain in Tgene partner, which is a essential gene 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
HgeneAKR1A1

GO:0044597

daunorubicin metabolic process

18276838

HgeneAKR1A1

GO:0044598

doxorubicin metabolic process

18276838


check buttonFusion gene breakpoints across AKR1A1 (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 C19orf53 (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
ChimerDB4STADTCGA-CG-5721-01AAKR1A1chr1

46032692

+C19orf53chr19

13888866

+


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Fusion Gene ORF analysis for AKR1A1-C19orf53

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-shiftENST00000351829ENST00000588234AKR1A1chr1

46032692

+C19orf53chr19

13888866

+
Frame-shiftENST00000351829ENST00000593274AKR1A1chr1

46032692

+C19orf53chr19

13888866

+
Frame-shiftENST00000372070ENST00000588234AKR1A1chr1

46032692

+C19orf53chr19

13888866

+
Frame-shiftENST00000372070ENST00000593274AKR1A1chr1

46032692

+C19orf53chr19

13888866

+
Frame-shiftENST00000471651ENST00000588234AKR1A1chr1

46032692

+C19orf53chr19

13888866

+
In-frameENST00000471651ENST00000593274AKR1A1chr1

46032692

+C19orf53chr19

13888866

+
intron-3CDSENST00000473038ENST00000588234AKR1A1chr1

46032692

+C19orf53chr19

13888866

+
intron-3CDSENST00000473038ENST00000593274AKR1A1chr1

46032692

+C19orf53chr19

13888866

+

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)
ENST00000471651AKR1A1chr146032692+ENST00000593274C19orf53chr1913888866+12778661077553174

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
ENST00000471651ENST00000593274AKR1A1chr146032692+C19orf53chr1913888866+0.121278490.87872154

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Fusion Genomic Features for AKR1A1-C19orf53


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)
AKR1A1chr146032692+C19orf53chr1913888865+5.55E-091
AKR1A1chr146032692+C19orf53chr1913888865+5.55E-091

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 AKR1A1-C19orf53


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/chr1:46032692/chr19:13888866)
- 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
HgeneAKR1A1chr1:46032692chr19:13888866ENST00000351829+4921_23118326.0Nucleotide bindingNADP
HgeneAKR1A1chr1:46032692chr19:13888866ENST00000372070+51021_23118326.0Nucleotide bindingNADP

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneAKR1A1chr1:46032692chr19:13888866ENST00000351829+49162_163118326.0Nucleotide bindingNADP
HgeneAKR1A1chr1:46032692chr19:13888866ENST00000351829+49210_217118326.0Nucleotide bindingNADP
HgeneAKR1A1chr1:46032692chr19:13888866ENST00000351829+49261_273118326.0Nucleotide bindingNADP
HgeneAKR1A1chr1:46032692chr19:13888866ENST00000372070+510162_163118326.0Nucleotide bindingNADP
HgeneAKR1A1chr1:46032692chr19:13888866ENST00000372070+510210_217118326.0Nucleotide bindingNADP
HgeneAKR1A1chr1:46032692chr19:13888866ENST00000372070+510261_273118326.0Nucleotide bindingNADP


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Fusion Gene Sequence for AKR1A1-C19orf53


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.
>3428_3428_1_AKR1A1-C19orf53_AKR1A1_chr1_46032692_ENST00000471651_C19orf53_chr19_13888866_ENST00000593274_length(transcript)=1277nt_BP=866nt
CTTAAGCTGAGGATCGTTGGATCTCTGGCGGGGTGCAGAACTGAGCCCAGGCCACAGTACCCTATTCACGCTCTGTGCTTGTGCCAAGGG
GGCAATGGCGGCTTCCTGTGTTCTACTGCACACTGGGCAGAAGATGCCTCTGATTGGTCTGGGTACCTGGAAGAGTGAGCCTGGTCAGGT
AAAAGCAGCTGTTAAGTATGCCCTTAGCGTAGGCTACCGCCACATTGATTGTGCTGCTATCTACGGCAATGAGCCTGAGATTGGGGAGGC
CCTGAAGGAGGACGTGGGACCAGGCAAGGTGAGCCTTGCCAGAGCCTCATCTGGGGAATCAGGGGGTTGAGCAGGATGGTGTTAGTAACT
TATTGTAAGTCACAGCAGCAGAGCAGGATAGGAACACTCATTTGCATGCCAAGCTGAGGAGCTTGACATGGGATCTTAGCCTCTTCTGCT
ACAGCAGCTTAGCTGTAGCTACAGGAGTTTAACTCTGGAAAAAGGAAGGCAGTCTCACATGGTGTGTACCCCAGGGTATGCACCTGTAAC
CCTCCTGCTCCCTTTATTCATTTAGAAAAGGTGCTGACTTTTCTGTTGAGCACCTGGGGTTACAGTAATAAGTAAGTCTCAGCAGAAGAT
GTGAGAAGAGCTCACCATTAGTGCCGTGCCCTGTGCTGGAAGAAGGGTGGATAACTCCCTGAGGATGAGTTAAGGAAGACTTCCTAGGGG
AGAGGAGATATCTACGTCTAGGAAGAGGAGGGGGCATAGGCATTCCATGTAAACTTAACACCTGGGTTACGATCTGGAAGGATGAAAAAG
CATGGCTTTTTTTGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAACCTAGAAGTCGGAATCCGGAAGAAGATCGAAC
ATGACGTGGTGATGAAAGCCAGCAGCAGCCTGCCCAAGAAGCTGGCACTGCTGAAGGCCCCAGCCAAGAAGAAAGGGGCAGCTGCCGCCA
CCTCCTCCAAGACACCTTCCTGAGGACGCTGGCCCCAGTGCAGGCCAACATCCCACCCCCTACCTCCATATGGGACCTTGCAAGTCATCC
CACAGGCTGCACTGTCAGGAAGAGGACCCTGTCCCCCAGCACTGGGCTTCACCTAGAACTTCAGTGGGGGCCAAGGGTGCTGAGAACCCA
GCAATGACCAGGAAGATACAGTCACTAACTTCATCTGTCCCCGTGCCCCTTCCCAGGTCCTGCCTCCACAGGTTTAACCCAGAACAATAA

>3428_3428_1_AKR1A1-C19orf53_AKR1A1_chr1_46032692_ENST00000471651_C19orf53_chr19_13888866_ENST00000593274_length(amino acids)=174AA_BP=0
MTCKVPYGGRGWDVGLHWGQRPQEGVLEEVAAAAPFFLAGAFSSASFLGRLLLAFITTSCSIFFRIPTSRFPKCWDYRREPPRLAKKSHA

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

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Fusion Gene PPI Analysis for AKR1A1-C19orf53


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 AKR1A1-C19orf53


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 AKR1A1-C19orf53


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneAKR1A1C0001969Alcoholic Intoxication5PSYGENET
HgeneAKR1A1C0001973Alcoholic Intoxication, Chronic5PSYGENET
HgeneAKR1A1C0085762Alcohol abuse5PSYGENET
HgeneAKR1A1C0036341Schizophrenia1PSYGENET
HgeneAKR1A1C0520459Necrotizing Enterocolitis1CTD_human