UTHEALTH HOME ABOUT SBMI A-Z WEBMAIL INSIDE THE UNIVERSITY

Home

Download

Statistics

Examples

Help

Contact

level1

	Fusion Gene Summary
	Fusion Gene Sample Information
	Fusion ORF Analysis
	Fusion Amino Acid Sequences
	Fusion Protein Functional Features
	Fusion Protein-Protein Interaction
	Related drugs with this fusion protein
	Related disease with this fusion protein

Fusion Protein:AKR1C3-AKR1E2

Fusion Protein Summary

Fusion gene summary

Fusion partner gene information	Fusion gene name: AKR1C3-AKR1E2
	FusionPDB ID: 3448
	FusionGDB2.0 ID: 3448
		Hgene	Tgene
	Gene symbol	AKR1C3	AKR1E2
	Gene ID	8644	83592
	Gene name	aldo-keto reductase family 1 member C3	aldo-keto reductase family 1 member E2
	Synonyms	DD3\|DDX\|HA1753\|HAKRB\|HAKRe\|HSD17B5\|PGFS\|hluPGFS	AKR1CL2\|AKRDC1\|LoopADR\|TAKR\|hTSP\|htAKR
	Cytomap	10p15.1	10p15.1
	Type of gene	protein-coding	protein-coding
	Description	aldo-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	1,5-anhydro-D-fructose reductaseAF reductasealdo-keto reductase family 1 member C-like protein 2aldo-keto reductase family 1, member C-like 2aldo-keto reductase loopADRtestis aldo-keto reductasetestis-specific protein
	Modification date	20200320	20200313
	UniProtAcc	P42330	Q96JD6
Ensembl transtripts involved in fusion gene	ENST ids	ENST00000380554, ENST00000439082, ENST00000605149, ENST00000470862,	ENST00000334019, ENST00000345253, ENST00000525281, ENST00000532248, ENST00000298375,
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)	* DoF score	2 X 3 X 2=12	6 X 3 X 6=108
	# samples	3	8
	** MAII score	log2(3/12*10)=1.32192809488736 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0	log2(8/108*10)=-0.432959407276106 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)	PubMed: AKR1C3 [Title/Abstract] AND AKR1E2 [Title/Abstract] AND fusion [Title/Abstract]
Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)	AKR1C3(5144842)-AKR1E2(4877867), # samples:1 AKR1C3(5139742)-AKR1E2(4872867), # 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)

Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez

Partner	Gene	GO ID	GO term	PubMed ID
Hgene	AKR1C3	GO:0007186	G protein-coupled receptor signaling pathway	18508192
Hgene	AKR1C3	GO:0008284	positive regulation of cell proliferation	18508192\|20036328
Hgene	AKR1C3	GO:0010942	positive regulation of cell death	21787718
Hgene	AKR1C3	GO:0016488	farnesol catabolic process	21187079
Hgene	AKR1C3	GO:0034614	cellular response to reactive oxygen species	21787718
Hgene	AKR1C3	GO:0042448	progesterone metabolic process	21232532
Hgene	AKR1C3	GO:0042574	retinal metabolic process	21851338
Hgene	AKR1C3	GO:0048385	regulation of retinoic acid receptor signaling pathway	21851338
Hgene	AKR1C3	GO:0051897	positive regulation of protein kinase B signaling	18508192
Hgene	AKR1C3	GO:0055114	oxidation-reduction process	16983398\|19442656\|21232532
Hgene	AKR1C3	GO:0071276	cellular response to cadmium ion	21787718
Hgene	AKR1C3	GO:0071277	cellular response to calcium ion	22170488
Hgene	AKR1C3	GO:0071379	cellular response to prostaglandin stimulus	22170488
Hgene	AKR1C3	GO:0071384	cellular response to corticosteroid stimulus	19336506
Hgene	AKR1C3	GO:0071395	cellular response to jasmonic acid stimulus	19487289
Hgene	AKR1C3	GO:0071799	cellular response to prostaglandin D stimulus	18508192
Hgene	AKR1C3	GO:1900053	negative regulation of retinoic acid biosynthetic process	21851338
Hgene	AKR1C3	GO:2000353	positive regulation of endothelial cell apoptotic process	19442656
Hgene	AKR1C3	GO:2000379	positive regulation of reactive oxygen species metabolic process	19442656
Tgene	AKR1E2	GO:0055114	oxidation-reduction process	15118078

Fusion gene breakpoints across AKR1C3 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

Fusion gene breakpoints across AKR1E2 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

Top

Fusion Gene Sample Information

Fusion gene information from FusionGDB2.0.

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.

Source	Disease	Sample	Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand
ChimerDB4	LUSC	TCGA-66-2759-01A	AKR1C3	chr10	5144842	+	AKR1E2	chr10	4877867	+
ChimerDB4	LUSC	TCGA-68-A59J-01A	AKR1C3	chr10	5139742	+	AKR1E2	chr10	4872867	+

Top

Fusion ORF Analysis

Fusion information from ORFfinder translation from full-length transcript sequence from FusionPDB.

Henst	Tenst	Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand	Seq length (transcript)	BP loci (transcript)	Predicted start (transcript)	Predicted stop (transcript)	Seq length (amino acids)
ENST00000605149	AKR1C3	chr10	5144842	+	ENST00000298375	AKR1E2	chr10	4877867	+	2273	1102	325	1740	471
ENST00000439082	AKR1C3	chr10	5144842	+	ENST00000298375	AKR1E2	chr10	4877867	+	2130	959	182	1597	471
ENST00000380554	AKR1C3	chr10	5144842	+	ENST00000298375	AKR1E2	chr10	4877867	+	2669	1498	652	2136	494
ENST00000605149	AKR1C3	chr10	5139742	+	ENST00000298375	AKR1E2	chr10	4872867	+	2081	625	325	1548	407
ENST00000439082	AKR1C3	chr10	5139742	+	ENST00000298375	AKR1E2	chr10	4872867	+	1938	482	182	1405	407
ENST00000380554	AKR1C3	chr10	5139742	+	ENST00000298375	AKR1E2	chr10	4872867	+	2477	1021	652	1944	430

DeepORF 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.

Henst	Tenst	Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand	No-coding score	Coding score
ENST00000605149	ENST00000298375	AKR1C3	chr10	5144842	+	AKR1E2	chr10	4877867	+	0.001116619	0.9988834
ENST00000439082	ENST00000298375	AKR1C3	chr10	5144842	+	AKR1E2	chr10	4877867	+	0.001442648	0.9985574
ENST00000380554	ENST00000298375	AKR1C3	chr10	5144842	+	AKR1E2	chr10	4877867	+	0.000434898	0.99956506
ENST00000605149	ENST00000298375	AKR1C3	chr10	5139742	+	AKR1E2	chr10	4872867	+	0.00061322	0.9993868
ENST00000439082	ENST00000298375	AKR1C3	chr10	5139742	+	AKR1E2	chr10	4872867	+	0.000788401	0.99921155
ENST00000380554	ENST00000298375	AKR1C3	chr10	5139742	+	AKR1E2	chr10	4872867	+	0.000628977	0.999371

Top

Fusion Amino Acid Sequences

For individual full-length fusion transcript sequence from FusionPDB, we ran ORFfinder and chose the longest ORF among the all predicted ones.

>FusionGDB ID_FusionGDB isoform ID_FGname_Hgene_Hchr_Hbp_Henst_Tgene_Tchr_Tbp_Tenst_length(fusion AA) seq_BP

>3448_3448_1_AKR1C3-AKR1E2_AKR1C3_chr10_5139742_ENST00000380554_AKR1E2_chr10_4872867_ENST00000298375_length(amino acids)=430AA_BP=121
MDSKHQCVKLNDGHFMPVLGFGTYAPPEVPRSKALEVTKLAIEAGFRHIDSAHLYNNEEQVGLAIRSKIADGSVKREDIFYTSKLWSTFH
RPELVRPALENSLKKAQLDYVDLYLIHSPMSLKASPGKVTEAVKEAIDAGYRHFDCAYFYHNEREVGAGIRCKIKEGAVRREDLFIATKL
WCTCHKKSLVETACRKSLKALKLNYLDLYLIHWPMGFKPPHPEWIMSCSELSFCLSHPRVQDLPLDESNMVIPSDTDFLDTWEAMEDLVI
TGLVKNIGVSNFNHEQLERLLNKPGLRFKPLTNQIECHPYLTQKNLISFCQSRDVSVTAYRPLGGSCEGVDLIDNPVIKRIAKEHGKSPA

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

>3448_3448_2_AKR1C3-AKR1E2_AKR1C3_chr10_5139742_ENST00000439082_AKR1E2_chr10_4872867_ENST00000298375_length(amino acids)=407AA_BP=98
MQISQVPRSKALEVTKLAIEAGFRHIDSAHLYNNEEQVGLAIRSKIADGSVKREDIFYTSKLWSTFHRPELVRPALENSLKKAQLDYVDL
YLIHSPMSLKASPGKVTEAVKEAIDAGYRHFDCAYFYHNEREVGAGIRCKIKEGAVRREDLFIATKLWCTCHKKSLVETACRKSLKALKL
NYLDLYLIHWPMGFKPPHPEWIMSCSELSFCLSHPRVQDLPLDESNMVIPSDTDFLDTWEAMEDLVITGLVKNIGVSNFNHEQLERLLNK
PGLRFKPLTNQIECHPYLTQKNLISFCQSRDVSVTAYRPLGGSCEGVDLIDNPVIKRIAKEHGKSPAQILIRFQIQRNVIVIPGSITPSH

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

>3448_3448_3_AKR1C3-AKR1E2_AKR1C3_chr10_5139742_ENST00000605149_AKR1E2_chr10_4872867_ENST00000298375_length(amino acids)=407AA_BP=98
MQISQVPRSKALEVTKLAIEAGFRHIDSAHLYNNEEQVGLAIRSKIADGSVKREDIFYTSKLWSTFHRPELVRPALENSLKKAQLDYVDL
YLIHSPMSLKASPGKVTEAVKEAIDAGYRHFDCAYFYHNEREVGAGIRCKIKEGAVRREDLFIATKLWCTCHKKSLVETACRKSLKALKL
NYLDLYLIHWPMGFKPPHPEWIMSCSELSFCLSHPRVQDLPLDESNMVIPSDTDFLDTWEAMEDLVITGLVKNIGVSNFNHEQLERLLNK
PGLRFKPLTNQIECHPYLTQKNLISFCQSRDVSVTAYRPLGGSCEGVDLIDNPVIKRIAKEHGKSPAQILIRFQIQRNVIVIPGSITPSH

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

>3448_3448_4_AKR1C3-AKR1E2_AKR1C3_chr10_5144842_ENST00000380554_AKR1E2_chr10_4877867_ENST00000298375_length(amino acids)=494AA_BP=281
MDSKHQCVKLNDGHFMPVLGFGTYAPPEVPRSKALEVTKLAIEAGFRHIDSAHLYNNEEQVGLAIRSKIADGSVKREDIFYTSKLWSTFH
RPELVRPALENSLKKAQLDYVDLYLIHSPMSLKPGEELSPTDENGKVIFDIVDLCTTWEAMEKCKDAGLAKSIGVSNFNRRQLEMILNKP
GLKYKPVCNQVECHPYFNRSKLLDFCKSKDIVLVAYSALGSQRDKRWVDPNSPVLLEDPVLCALAKKHKRTPALIALRYQLQRGVVVLAK
SYNEQRIRQNVQPPHPEWIMSCSELSFCLSHPRVQDLPLDESNMVIPSDTDFLDTWEAMEDLVITGLVKNIGVSNFNHEQLERLLNKPGL
RFKPLTNQIECHPYLTQKNLISFCQSRDVSVTAYRPLGGSCEGVDLIDNPVIKRIAKEHGKSPAQILIRFQIQRNVIVIPGSITPSHIKE

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

>3448_3448_5_AKR1C3-AKR1E2_AKR1C3_chr10_5144842_ENST00000439082_AKR1E2_chr10_4877867_ENST00000298375_length(amino acids)=471AA_BP=258
MQISQVPRSKALEVTKLAIEAGFRHIDSAHLYNNEEQVGLAIRSKIADGSVKREDIFYTSKLWSTFHRPELVRPALENSLKKAQLDYVDL
YLIHSPMSLKPGEELSPTDENGKVIFDIVDLCTTWEAMEKCKDAGLAKSIGVSNFNRRQLEMILNKPGLKYKPVCNQVECHPYFNRSKLL
DFCKSKDIVLVAYSALGSQRDKRWVDPNSPVLLEDPVLCALAKKHKRTPALIALRYQLQRGVVVLAKSYNEQRIRQNVQPPHPEWIMSCS
ELSFCLSHPRVQDLPLDESNMVIPSDTDFLDTWEAMEDLVITGLVKNIGVSNFNHEQLERLLNKPGLRFKPLTNQIECHPYLTQKNLISF
CQSRDVSVTAYRPLGGSCEGVDLIDNPVIKRIAKEHGKSPAQILIRFQIQRNVIVIPGSITPSHIKENIQVFDFELTQHDMDNILSLNRN

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

>3448_3448_6_AKR1C3-AKR1E2_AKR1C3_chr10_5144842_ENST00000605149_AKR1E2_chr10_4877867_ENST00000298375_length(amino acids)=471AA_BP=258
MQISQVPRSKALEVTKLAIEAGFRHIDSAHLYNNEEQVGLAIRSKIADGSVKREDIFYTSKLWSTFHRPELVRPALENSLKKAQLDYVDL
YLIHSPMSLKPGEELSPTDENGKVIFDIVDLCTTWEAMEKCKDAGLAKSIGVSNFNRRQLEMILNKPGLKYKPVCNQVECHPYFNRSKLL
DFCKSKDIVLVAYSALGSQRDKRWVDPNSPVLLEDPVLCALAKKHKRTPALIALRYQLQRGVVVLAKSYNEQRIRQNVQPPHPEWIMSCS
ELSFCLSHPRVQDLPLDESNMVIPSDTDFLDTWEAMEDLVITGLVKNIGVSNFNHEQLERLLNKPGLRFKPLTNQIECHPYLTQKNLISF
CQSRDVSVTAYRPLGGSCEGVDLIDNPVIKRIAKEHGKSPAQILIRFQIQRNVIVIPGSITPSHIKENIQVFDFELTQHDMDNILSLNRN

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

Top

Fusion Protein Functional Features

Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr10:5144842/chr10:4877867)
- 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.

Main function of each fusion partner protein. (from UniProt)

Hgene	Tgene
AKR1C3 P42330	AKR1E2 Q96JD6
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}.	FUNCTION: Catalyzes the NADPH-dependent reduction of 1,5-anhydro-D-fructose (AF) to 1,5-anhydro-D-glucitol (By similarity). Has low NADPH-dependent reductase activity towards 9,10-phenanthrenequinone (in vitro) (PubMed:12604216, PubMed:15118078). {ECO:0000250\|UniProtKB:Q9DCT1, ECO:0000269\|PubMed:12604216, ECO:0000269\|PubMed:15118078}.

Retention 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.

- Retained protein feature among the 13 regional features.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Protein feature

Protein feature note

Hgene

AKR1C3

chr10:5139742

chr10:4872867

ENST00000380554

23_24

123.0

324.0

Nucleotide binding

NADP

Hgene

AKR1C3

chr10:5144842

chr10:4877867

ENST00000380554

166_167

282.0

324.0

Nucleotide binding

NADP

Hgene

AKR1C3

chr10:5144842

chr10:4877867

ENST00000380554

216_222

282.0

324.0

Nucleotide binding

NADP

Hgene

AKR1C3

chr10:5144842

chr10:4877867

ENST00000380554

23_24

282.0

324.0

Nucleotide binding

NADP

Hgene

AKR1C3

chr10:5144842

chr10:4877867

ENST00000380554

270_272

282.0

324.0

Nucleotide binding

NADP

Hgene

AKR1C3

chr10:5144842

chr10:4877867

ENST00000380554

276_280

282.0

324.0

Nucleotide binding

NADP

Tgene

AKR1E2

chr10:5139742

chr10:4872867

ENST00000298375

265_277

13.0

321.0

Nucleotide binding

NADP

Tgene

AKR1E2

chr10:5139742

chr10:4872867

ENST00000334019

265_277

13.0

264.0

Nucleotide binding

NADP

Tgene

AKR1E2

chr10:5139742

chr10:4872867

ENST00000345253

265_277

13.0

223.0

Nucleotide binding

NADP

Tgene

AKR1E2

chr10:5139742

chr10:4872867

ENST00000532248

265_277

13.0

251.0

Nucleotide binding

NADP

Tgene

AKR1E2

chr10:5144842

chr10:4877867

ENST00000298375

265_277

108.0

321.0

Nucleotide binding

NADP

Tgene

AKR1E2

chr10:5144842

chr10:4877867

ENST00000334019

265_277

108.0

264.0

Nucleotide binding

NADP

Tgene

AKR1E2

chr10:5144842

chr10:4877867

ENST00000345253

265_277

108.0

223.0

Nucleotide binding

NADP

Tgene

AKR1E2

chr10:5144842

chr10:4877867

ENST00000532248

265_277

108.0

251.0

Nucleotide binding

NADP

- Not-retained protein feature among the 13 regional features.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Protein feature

Protein feature note

Hgene

AKR1C3

chr10:5139742

chr10:4872867

ENST00000380554

166_167

123.0

324.0

Nucleotide binding

NADP

Hgene

AKR1C3

chr10:5139742

chr10:4872867

ENST00000380554

216_222

123.0

324.0

Nucleotide binding

NADP

Hgene

AKR1C3

chr10:5139742

chr10:4872867

ENST00000380554

270_272

123.0

324.0

Nucleotide binding

NADP

Hgene

AKR1C3

chr10:5139742

chr10:4872867

ENST00000380554

276_280

123.0

324.0

Nucleotide binding

NADP

Top

Fusion Protein-Protein Interaction

Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in
ChiPPI page.

Protein-protein interactors with each fusion partner protein in wild-type from validated records (BIOGRID-3.4.160)

Gene

PPI interactors

Protein-protein interactors based on sequence similarity (STRING)

Gene	STRING network
AKR1C3
AKR1E2

- Retained interactions in fusion protein (protein functional feature from UniProt).

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Still interaction with

- Lost interactions due to fusion (protein functional feature from UniProt).

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Interaction lost with

Top

Related Drugs to AKR1C3-AKR1E2

Drugs used for this fusion-positive patient.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)

Hgene

Tgene

Drug

Source

PMID

Top

Related Diseases to AKR1C3-AKR1E2

Diseases that have this fusion gene.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)

Hgene

Tgene

Disease

Source

PMID

Diseases associated with fusion partners.
(DisGeNet 4.0)

Partner

Gene

Disease ID

Disease name

# pubmeds

Source