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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:AKR1B10-POLR2I (FusionGDB2 ID:HG57016TG5438)

Fusion Gene Summary for AKR1B10-POLR2I

check button Fusion gene summary
Fusion gene informationFusion gene name: AKR1B10-POLR2I
Fusion gene ID: hg57016tg5438
HgeneTgene
Gene symbol

AKR1B10

POLR2I

Gene ID

57016

5438

Gene namealdo-keto reductase family 1 member B10RNA polymerase II subunit I
SynonymsAKR1B11|AKR1B12|ALDRLn|ARL-1|ARL1|HIS|HSIRPB9|hRPB14.5
Cytomap('AKR1B10')('POLR2I')

7q33

19q13.12

Type of geneprotein-codingprotein-coding
Descriptionaldo-keto reductase family 1 member B10ARPSI reductasealdo-keto reductase family 1, member B10 (aldose reductase)aldo-keto reductase family 1, member B11 (aldose reductase-like)aldose reductase-like 1aldose reductase-like peptidealdose reductase-reDNA-directed RNA polymerase II subunit RPB9DNA-directed RNA polymerase II 14.5 kDa polypeptideDNA-directed RNA polymerase II subunit IRNA polymerase II 14.5 kDa subunitRNA polymerase II subunit B9RPB14.5polymerase (RNA) II (DNA directed) polypeptide
Modification date2020031320200320
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000475559, ENST00000359579, 
Fusion gene scores* DoF score2 X 2 X 2=87 X 3 X 5=105
# samples 28
** MAII scorelog2(2/8*10)=1.32192809488736log2(8/105*10)=-0.39231742277876
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: AKR1B10 [Title/Abstract] AND POLR2I [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointAKR1B10(134215562)-POLR2I(36605314), # samples:2
Anticipated loss of major functional domain due to fusion event.AKR1B10-POLR2I 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.
AKR1B10-POLR2I 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.
AKR1B10-POLR2I 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.
AKR1B10-POLR2I 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
HgeneAKR1B10

GO:0001523

retinoid metabolic process

12732097

HgeneAKR1B10

GO:0016488

farnesol catabolic process

21187079

HgeneAKR1B10

GO:0110095

cellular detoxification of aldehyde

19013440|19563777

TgenePOLR2I

GO:0006366

transcription by RNA polymerase II

9852112


check buttonFusion gene breakpoints across AKR1B10 (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 POLR2I (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
ChimerDB4ESCATCGA-LN-A8I1AKR1B10chr7

134215562

+POLR2Ichr19

36605314

-


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Fusion Gene ORF analysis for AKR1B10-POLR2I

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
3UTR-3CDSENST00000475559ENST00000221859AKR1B10chr7

134215562

+POLR2Ichr19

36605314

-
In-frameENST00000359579ENST00000221859AKR1B10chr7

134215562

+POLR2Ichr19

36605314

-

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)
ENST00000359579AKR1B10chr7134215562+ENST00000221859POLR2Ichr1936605314-863554215817200

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
ENST00000359579ENST00000221859AKR1B10chr7134215562+POLR2Ichr1936605314-0.008509260.9914908

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Fusion Genomic Features for AKR1B10-POLR2I


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 AKR1B10-POLR2I


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/chr7:134215562/chr19:36605314)
- 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
HgeneAKR1B10chr7:134215562chr19:36605314ENST00000359579+21020_2278317.0Nucleotide bindingNADP
TgenePOLR2Ichr7:134215562chr19:36605314ENST000002218591682_12438126.0Zinc fingerTFIIS-type

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneAKR1B10chr7:134215562chr19:36605314ENST00000359579+210160_16178317.0Nucleotide bindingNADP
HgeneAKR1B10chr7:134215562chr19:36605314ENST00000359579+210210_21778317.0Nucleotide bindingNADP
HgeneAKR1B10chr7:134215562chr19:36605314ENST00000359579+210261_27378317.0Nucleotide bindingNADP
TgenePOLR2Ichr7:134215562chr19:36605314ENST000002218591617_4238126.0Zinc fingerC4-type


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Fusion Gene Sequence for AKR1B10-POLR2I


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.
>3435_3435_1_AKR1B10-POLR2I_AKR1B10_chr7_134215562_ENST00000359579_POLR2I_chr19_36605314_ENST00000221859_length(transcript)=863nt_BP=554nt
ACAGTAGCTCACACCTGTAATCCCAGCACTTTGGAAGGCCGAGGTGGGCGGATCACCTGAGCTCAGGAGTTTGAGACCAGCCTGTCTCTA
CTAACAATATAAAAATTAGCTGGGAGTCACGGTGGGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCA
GGAGACAGAGGTTGTAGTGAGCTGAGATCGCACCACTGCACTCTAGCCTTGGCAACAGTGCAAGACTGTCTCAAAAACAGCAACAGAGAG
CAGGACGTGAGACTTCTACCTGCTCACTCAGAATCATTTCTGCACCAACCATGGCCACGTTTGTGGAGCTCAGTACCAAAGCCAAGATGC
CCATTGTGGGCCTGGGCACTTGGAAGTCTCCTCTTGGCAAAGTGAAAGAAGCAGTGAAGGTGGCCATTGATGCAGGATATCGGCACATTG
ACTGTGCCTATGTCTATCAGAATGAACATGAAGTGGGGGAAGCCATCCAAGAGAAGATCCAAGAGAAGGCTGTGAAGCGGGAGGACCTGT
TCATCGTCAGCAAGTGCCGGAACTGTGATTACCAGCAGGAGGCCGACAACAGCTGCATCTATGTCAACAAGATCACGCACGAAGTGGACG
AACTGACCCAGATTATCGCCGACGTGTCCCAGGACCCCACGTTGCCGCGGACCGAGGACCACCCGTGCCAAAAGTGCGGCCACAAGGAGG
CTGTGTTCTTCCAGTCACACAGTGCGCGGGCCGAGGACGCCATGCGCCTTTACTACGTGTGCACAGCCCCACACTGCGGCCACCGCTGGA

>3435_3435_1_AKR1B10-POLR2I_AKR1B10_chr7_134215562_ENST00000359579_POLR2I_chr19_36605314_ENST00000221859_length(amino acids)=200AA_BP=111
MHSSLGNSARLSQKQQQRAGRETSTCSLRIISAPTMATFVELSTKAKMPIVGLGTWKSPLGKVKEAVKVAIDAGYRHIDCAYVYQNEHEV
GEAIQEKIQEKAVKREDLFIVSKCRNCDYQQEADNSCIYVNKITHEVDELTQIIADVSQDPTLPRTEDHPCQKCGHKEAVFFQSHSARAE

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Fusion Gene PPI Analysis for AKR1B10-POLR2I


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 AKR1B10-POLR2I


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 AKR1B10-POLR2I


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneAKR1B10C0006826Malignant Neoplasms1CTD_human
HgeneAKR1B10C0009402Colorectal Carcinoma1CTD_human
HgeneAKR1B10C0009404Colorectal Neoplasms1CTD_human
HgeneAKR1B10C0011616Contact Dermatitis1CTD_human
HgeneAKR1B10C0014170Endometrial Neoplasms1CTD_human
HgeneAKR1B10C0025202melanoma1CTD_human
HgeneAKR1B10C0027626Neoplasm Invasiveness1CTD_human
HgeneAKR1B10C0027651Neoplasms1CTD_human
HgeneAKR1B10C0086692Benign Neoplasm1CTD_human
HgeneAKR1B10C0162351Contact hypersensitivity1CTD_human
HgeneAKR1B10C0476089Endometrial Carcinoma1CTD_human
HgeneAKR1B10C2239176Liver carcinoma1CTD_human