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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:ANG-AKR1C3 (FusionGDB2 ID:4326)

Fusion Gene Summary for ANG-AKR1C3

check button Fusion gene summary
Fusion gene informationFusion gene name: ANG-AKR1C3
Fusion gene ID: 4326
HgeneTgene
Gene symbol

ANG

AKR1C3

Gene ID

283

8644

Gene nameangiogeninaldo-keto reductase family 1 member C3
SynonymsALS9|HEL168|RAA1|RNASE4|RNASE5DD3|DDX|HA1753|HAKRB|HAKRe|HSD17B5|PGFS|hluPGFS
Cytomap

14q11.2

10p15.1

Type of geneprotein-codingprotein-coding
DescriptionangiogeninRNase 5angiogenin, ribonuclease, RNase A family, 5epididymis luminal protein 168ribonuclease 5ribonuclease A A1ribonuclease A family member 5aldo-keto reductase family 1 member C33-alpha hydroxysteroid dehydrogenase, type II3-alpha-HSD type II, brainchlordecone reductase homolog HAKRbdihydrodiol dehydrogenase 3dihydrodiol dehydrogenase Xindanol dehydrogenaseprostaglandin F synthasetest
Modification date2020032920200320
UniProtAcc

P03950

P42330

Ensembl transtripts involved in fusion geneENST00000554073, ENST00000336811, 
ENST00000397990, 
ENST00000470862, 
ENST00000380554, ENST00000439082, 
ENST00000605149, 
Fusion gene scores* DoF score1 X 1 X 1=16 X 5 X 5=150
# samples 15
** MAII scorelog2(1/1*10)=3.32192809488736log2(5/150*10)=-1.58496250072116
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ANG [Title/Abstract] AND AKR1C3 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointANG(21152917)-AKR1C3(5077620), # samples:1
Anticipated loss of major functional domain due to fusion event.
* 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
HgeneANG

GO:0001525

angiogenesis

8448182

HgeneANG

GO:0001666

response to hypoxia

10999833|15979542|16490744

HgeneANG

GO:0001938

positive regulation of endothelial cell proliferation

9122172|9707554

HgeneANG

GO:0006651

diacylglycerol biosynthetic process

2457905

HgeneANG

GO:0009725

response to hormone

10999833

HgeneANG

GO:0042327

positive regulation of phosphorylation

17125737

HgeneANG

GO:0048662

negative regulation of smooth muscle cell proliferation

10103013

HgeneANG

GO:0050714

positive regulation of protein secretion

2646638

TgeneAKR1C3

GO:0007186

G protein-coupled receptor signaling pathway

18508192

TgeneAKR1C3

GO:0008284

positive regulation of cell proliferation

18508192|20036328

TgeneAKR1C3

GO:0010942

positive regulation of cell death

21787718

TgeneAKR1C3

GO:0016488

farnesol catabolic process

21187079

TgeneAKR1C3

GO:0034614

cellular response to reactive oxygen species

21787718

TgeneAKR1C3

GO:0042448

progesterone metabolic process

21232532

TgeneAKR1C3

GO:0042574

retinal metabolic process

21851338

TgeneAKR1C3

GO:0048385

regulation of retinoic acid receptor signaling pathway

21851338

TgeneAKR1C3

GO:0051897

positive regulation of protein kinase B signaling

18508192

TgeneAKR1C3

GO:0055114

oxidation-reduction process

16983398|19442656|21232532

TgeneAKR1C3

GO:0071276

cellular response to cadmium ion

21787718

TgeneAKR1C3

GO:0071277

cellular response to calcium ion

22170488

TgeneAKR1C3

GO:0071379

cellular response to prostaglandin stimulus

22170488

TgeneAKR1C3

GO:0071384

cellular response to corticosteroid stimulus

19336506

TgeneAKR1C3

GO:0071395

cellular response to jasmonic acid stimulus

19487289

TgeneAKR1C3

GO:0071799

cellular response to prostaglandin D stimulus

18508192

TgeneAKR1C3

GO:1900053

negative regulation of retinoic acid biosynthetic process

21851338

TgeneAKR1C3

GO:2000353

positive regulation of endothelial cell apoptotic process

19442656

TgeneAKR1C3

GO:2000379

positive regulation of reactive oxygen species metabolic process

19442656


check buttonFusion gene breakpoints across ANG (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check buttonFusion gene breakpoints across AKR1C3 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

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
ChimerDB4STADTCGA-FP-8211-01AANGchr14

21152917

+AKR1C3chr10

5077620

+


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Fusion Gene ORF analysis for ANG-AKR1C3

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-3UTRENST00000554073ENST00000470862ANGchr14

21152917

+AKR1C3chr10

5077620

+
3UTR-intronENST00000554073ENST00000380554ANGchr14

21152917

+AKR1C3chr10

5077620

+
3UTR-intronENST00000554073ENST00000439082ANGchr14

21152917

+AKR1C3chr10

5077620

+
3UTR-intronENST00000554073ENST00000605149ANGchr14

21152917

+AKR1C3chr10

5077620

+
5UTR-3UTRENST00000336811ENST00000470862ANGchr14

21152917

+AKR1C3chr10

5077620

+
5UTR-intronENST00000336811ENST00000380554ANGchr14

21152917

+AKR1C3chr10

5077620

+
5UTR-intronENST00000336811ENST00000439082ANGchr14

21152917

+AKR1C3chr10

5077620

+
5UTR-intronENST00000336811ENST00000605149ANGchr14

21152917

+AKR1C3chr10

5077620

+
intron-3UTRENST00000397990ENST00000470862ANGchr14

21152917

+AKR1C3chr10

5077620

+
intron-intronENST00000397990ENST00000380554ANGchr14

21152917

+AKR1C3chr10

5077620

+
intron-intronENST00000397990ENST00000439082ANGchr14

21152917

+AKR1C3chr10

5077620

+
intron-intronENST00000397990ENST00000605149ANGchr14

21152917

+AKR1C3chr10

5077620

+

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)

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

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Fusion Genomic Features for ANG-AKR1C3


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.

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.

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Fusion Protein Features for ANG-AKR1C3


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/:21152917/:5077620)
- 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
ANG

P03950

AKR1C3

P42330

FUNCTION: Binds to actin on the surface of endothelial cells; once bound, angiogenin is endocytosed and translocated to the nucleus. Stimulates ribosomal RNA synthesis including that containing the initiation site sequences of 45S rRNA. Cleaves tRNA within anticodon loops to produce tRNA-derived stress-induced fragments (tiRNAs) which inhibit protein synthesis and triggers the assembly of stress granules (SGs). Angiogenin induces vascularization of normal and malignant tissues. Angiogenic activity is regulated by interaction with RNH1 in vivo. {ECO:0000269|PubMed:12051708, ECO:0000269|PubMed:1400510, ECO:0000269|PubMed:19354288, ECO:0000269|PubMed:21855800}.FUNCTION: Cytosolic aldo-keto reductase that catalyzes the NADH and NADPH-dependent reduction of ketosteroids to hydroxysteroids. Acts as a NAD(P)(H)-dependent 3-, 17- and 20-ketosteroid reductase on the steroid nucleus and side chain and regulates the metabolism of androgens, estrogens and progesterone (PubMed:10622721, PubMed:11165022, PubMed:7650035, PubMed:9415401, PubMed:9927279). Displays the ability to catalyze both oxidation and reduction in vitro, but most probably acts as a reductase in vivo since the oxidase activity measured in vitro is inhibited by physiological concentration of NADPH (PubMed:14672942, PubMed:11165022). Acts preferentially as a 17-ketosteroid reductase and has the highest catalytic efficiency of the AKR1C enzyme for the reduction of delta4-androstenedione to form testosterone (PubMed:20036328). Reduces prostaglandin (PG) D2 to 11beta-prostaglandin F2, progesterone to 20alpha-hydroxyprogesterone and estrone to 17beta-estradiol (PubMed:15047184, PubMed:20036328, PubMed:10622721, PubMed:11165022, PubMed:10998348, PubMed:19010934). Catalyzes the transformation of the potent androgen dihydrotestosterone (DHT) into the less active form, 5-alpha-androstan-3-alpha,17-beta-diol (3-alpha-diol) (PubMed:10998348, PubMed:14672942, PubMed:11165022, PubMed:7650035, PubMed:9415401, PubMed:10557352). Displays also retinaldehyde reductase activity toward 9-cis-retinal (PubMed:21851338). {ECO:0000269|PubMed:10557352, ECO:0000269|PubMed:10622721, ECO:0000269|PubMed:10998348, ECO:0000269|PubMed:11165022, ECO:0000269|PubMed:14672942, ECO:0000269|PubMed:15047184, ECO:0000269|PubMed:19010934, ECO:0000269|PubMed:20036328, ECO:0000269|PubMed:21851338, ECO:0000269|PubMed:7650035, ECO:0000269|PubMed:9415401, ECO:0000269|PubMed:9927279}.

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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Fusion Gene Sequence for ANG-AKR1C3


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.

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Fusion Gene PPI Analysis for ANG-AKR1C3


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 ANG-AKR1C3


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 ANG-AKR1C3


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