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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:AKR1C2-CLSTN1 (FusionGDB2 ID:3556)

Fusion Gene Summary for AKR1C2-CLSTN1

check button Fusion gene summary
Fusion gene informationFusion gene name: AKR1C2-CLSTN1
Fusion gene ID: 3556
HgeneTgene
Gene symbol

AKR1C2

CLSTN1

Gene ID

1646

22883

Gene namealdo-keto reductase family 1 member C2calsyntenin 1
SynonymsAKR1C-pseudo|BABP|DD|DD-2|DD/BABP|DD2|DDH2|HAKRD|HBAB|MCDR2|SRXY8|TDDALC-ALPHA|CDHR12|CST-1|CSTN1|PIK3CD|XB31alpha|alcalpha1|alcalpha2
Cytomap

10p15.1

1p36.22

Type of geneprotein-codingprotein-coding
Descriptionaldo-keto reductase family 1 member C23-alpha-HSD3chlordecone reductase homolog HAKRDdihydrodiol dehydrogenase 2; bile acid binding protein; 3-alpha hydroxysteroid dehydrogenase, type IIIpseudo-chlordecone reductasetesticular 17,20-desmolase deficiencalsyntenin-1alcadein-alphaalzheimer-related cadherin-like proteincadherin-related family member 12non-classical cadherin XB31alpha
Modification date2020031320200313
UniProtAcc

P52895

O94985

Ensembl transtripts involved in fusion geneENST00000380753, ENST00000421196, 
ENST00000407674, ENST00000455190, 
ENST00000604428, 		ENST00000377298, 
ENST00000361311, ENST00000377288, 
ENST00000477264, 
Fusion gene scores* DoF score1 X 1 X 1=110 X 10 X 5=500
# samples 112
** MAII scorelog2(1/1*10)=3.32192809488736log2(12/500*10)=-2.05889368905357
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: AKR1C2 [Title/Abstract] AND CLSTN1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointAKR1C2(5034107)-CLSTN1(9811552), # 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
HgeneAKR1C2

GO:0006693

prostaglandin metabolic process

8573067

HgeneAKR1C2

GO:0007186

G protein-coupled receptor signaling pathway

18508192

HgeneAKR1C2

GO:0007586

digestion

8573067

HgeneAKR1C2

GO:0008202

steroid metabolic process

8573067

HgeneAKR1C2

GO:0008284

positive regulation of cell proliferation

18508192

HgeneAKR1C2

GO:0042448

progesterone metabolic process

21232532

HgeneAKR1C2

GO:0051897

positive regulation of protein kinase B signaling

18508192

HgeneAKR1C2

GO:0055114

oxidation-reduction process

21232532

HgeneAKR1C2

GO:0071395

cellular response to jasmonic acid stimulus

19487289

HgeneAKR1C2

GO:0071799

cellular response to prostaglandin D stimulus

18508192


check buttonFusion gene breakpoints across AKR1C2 (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 CLSTN1 (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
ChiTaRS5.0N/ABE720028AKR1C2chr10

5034107

+CLSTN1chr1

9811552

+


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Fusion Gene ORF analysis for AKR1C2-CLSTN1

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
intron-3CDSENST00000380753ENST00000377298AKR1C2chr10

5034107

+CLSTN1chr1

9811552

+
intron-3CDSENST00000380753ENST00000361311AKR1C2chr10

5034107

+CLSTN1chr1

9811552

+
intron-3CDSENST00000380753ENST00000377288AKR1C2chr10

5034107

+CLSTN1chr1

9811552

+
intron-intronENST00000380753ENST00000477264AKR1C2chr10

5034107

+CLSTN1chr1

9811552

+
intron-3CDSENST00000421196ENST00000377298AKR1C2chr10

5034107

+CLSTN1chr1

9811552

+
intron-3CDSENST00000421196ENST00000361311AKR1C2chr10

5034107

+CLSTN1chr1

9811552

+
intron-3CDSENST00000421196ENST00000377288AKR1C2chr10

5034107

+CLSTN1chr1

9811552

+
intron-intronENST00000421196ENST00000477264AKR1C2chr10

5034107

+CLSTN1chr1

9811552

+
intron-3CDSENST00000407674ENST00000377298AKR1C2chr10

5034107

+CLSTN1chr1

9811552

+
intron-3CDSENST00000407674ENST00000361311AKR1C2chr10

5034107

+CLSTN1chr1

9811552

+
intron-3CDSENST00000407674ENST00000377288AKR1C2chr10

5034107

+CLSTN1chr1

9811552

+
intron-intronENST00000407674ENST00000477264AKR1C2chr10

5034107

+CLSTN1chr1

9811552

+
intron-3CDSENST00000455190ENST00000377298AKR1C2chr10

5034107

+CLSTN1chr1

9811552

+
intron-3CDSENST00000455190ENST00000361311AKR1C2chr10

5034107

+CLSTN1chr1

9811552

+
intron-3CDSENST00000455190ENST00000377288AKR1C2chr10

5034107

+CLSTN1chr1

9811552

+
intron-intronENST00000455190ENST00000477264AKR1C2chr10

5034107

+CLSTN1chr1

9811552

+
intron-3CDSENST00000604428ENST00000377298AKR1C2chr10

5034107

+CLSTN1chr1

9811552

+
intron-3CDSENST00000604428ENST00000361311AKR1C2chr10

5034107

+CLSTN1chr1

9811552

+
intron-3CDSENST00000604428ENST00000377288AKR1C2chr10

5034107

+CLSTN1chr1

9811552

+
intron-intronENST00000604428ENST00000477264AKR1C2chr10

5034107

+CLSTN1chr1

9811552

+

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 AKR1C2-CLSTN1


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 AKR1C2-CLSTN1


check button Go to

FGviewer for the breakpoints of :-:

.
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
AKR1C2

P52895

CLSTN1

O94985

FUNCTION: Cytosolic aldo-keto reductase that catalyzes the NADH and NADPH-dependent reduction of ketosteroids to hydroxysteroids (PubMed:19218247). Most probably acts as a reductase in vivo since the oxidase activity measured in vitro is inhibited by physiological concentrations of NADPH (PubMed:14672942). Displays a broad positional specificity acting on positions 3, 17 and 20 of steroids and regulates the metabolism of hormones like estrogens and androgens (PubMed:10998348). Works in concert with the 5-alpha/5-beta-steroid reductases to convert steroid hormones into the 3-alpha/5-alpha and 3-alpha/5-beta-tetrahydrosteroids. Catalyzes the inactivation of the most potent androgen 5-alpha-dihydrotestosterone (5-alpha-DHT) to 5-alpha-androstane-3-alpha,17-beta-diol (3-alpha-diol) (PubMed:15929998, PubMed:17034817, PubMed:17442338, PubMed:8573067). Also specifically able to produce 17beta-hydroxy-5alpha-androstan-3-one/5alphaDHT (PubMed:10998348). May also reduce conjugated steroids such as 5alpha-dihydrotestosterone sulfate (PubMed:19218247). Displays affinity for bile acids (PubMed:8486699). {ECO:0000269|PubMed:10998348, ECO:0000269|PubMed:14672942, ECO:0000269|PubMed:15929998, ECO:0000269|PubMed:17034817, ECO:0000269|PubMed:17442338, ECO:0000269|PubMed:19218247, ECO:0000269|PubMed:8486699, ECO:0000269|PubMed:8573067}.FUNCTION: Induces KLC1 association with vesicles and functions as a cargo in axonal anterograde transport. Complex formation with APBA2 and APP, stabilizes APP metabolism and enhances APBA2-mediated suppression of beta-APP40 secretion, due to the retardation of intracellular APP maturation. In complex with APBA2 and C99, a C-terminal APP fragment, abolishes C99 interaction with PSEN1 and thus APP C99 cleavage by gamma-secretase, most probably through stabilization of the direct interaction between APBA2 and APP. The intracellular fragment AlcICD suppresses APBB1-dependent transactivation stimulated by APP C-terminal intracellular fragment (AICD), most probably by competing with AICD for APBB1-binding. May modulate calcium-mediated postsynaptic signals (By similarity). {ECO:0000250, ECO:0000269|PubMed:12972431}.

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 AKR1C2-CLSTN1


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 AKR1C2-CLSTN1


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 AKR1C2-CLSTN1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneAKR1C2P52895DB06777Chenodeoxycholic acidSubstrateSmall moleculeApproved
HgeneAKR1C2P52895DB06777Chenodeoxycholic acidSubstrateSmall moleculeApproved
HgeneAKR1C2P52895DB01586Ursodeoxycholic acidInducerSmall moleculeApproved|Investigational
HgeneAKR1C2P52895DB01586Ursodeoxycholic acidInducerSmall moleculeApproved|Investigational
HgeneAKR1C2P52895DB00157NADHSmall moleculeApproved|Nutraceutical
HgeneAKR1C2P52895DB00157NADHSmall moleculeApproved|Nutraceutical

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Related Diseases for AKR1C2-CLSTN1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneAKR1C2C0007621Neoplastic Cell Transformation1CTD_human
HgeneAKR1C2C0011616Contact Dermatitis1CTD_human
HgeneAKR1C2C0014175Endometriosis1CTD_human
HgeneAKR1C2C0019269Hermaphroditism1CTD_human
HgeneAKR1C2C0027661Neoplasms, Hormone-Dependent1CTD_human
HgeneAKR1C2C0029408Degenerative polyarthritis1CTD_human
HgeneAKR1C2C0032460Polycystic Ovary Syndrome1CTD_human
HgeneAKR1C2C0033804Pseudohermaphroditism1CTD_human
HgeneAKR1C2C0036875Disorders of Sex Development1CTD_human
HgeneAKR1C2C0043094Weight Gain1CTD_human
HgeneAKR1C2C0086743Osteoarthrosis Deformans1CTD_human
HgeneAKR1C2C0162351Contact hypersensitivity1CTD_human
HgeneAKR1C2C0266362Ambiguous Genitalia1CTD_human
HgeneAKR1C2C0269102Endometrioma1CTD_human
HgeneAKR1C2C1136382Sclerocystic Ovaries1CTD_human
HgeneAKR1C2C1839840MALE PSEUDOHERMAPHRODITISM: DEFICIENCY OF TESTICULAR 17,20-DESMOLASE1CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
HgeneAKR1C2C2239176Liver carcinoma1CTD_human
HgeneAKR1C2C2930618Intersex Conditions1CTD_human
HgeneAKR1C2C2930619Sex Differentiation Disorders1CTD_human