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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 1396

FusionGeneSummary for AKR1C3_CLSTN1

check button Fusion gene summary
Fusion gene informationFusion gene name: AKR1C3_CLSTN1
Fusion gene ID: 1396
HgeneTgene
Gene symbol

AKR1C3

CLSTN1

Gene ID

8644

22883

Gene namealdo-keto reductase family 1 member C3calsyntenin 1
SynonymsDD3|DDX|HA1753|HAKRB|HAKRe|HSD17B5|PGFS|hluPGFSALC-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 C33-alpha hydroxysteroid dehydrogenase, type II3-alpha-HSD type II, brainchlordecone reductase homolog HAKRbdihydrodiol dehydrogenase 3dihydrodiol dehydrogenase Xindanol dehydrogenaseprostaglandin F synthasetestcalsyntenin-1alcadein-alphaalzheimer-related cadherin-like proteincadherin-related family member 12non-classical cadherin XB31alpha
Modification date2018052720180523
UniProtAcc

P42330

O94985

Ensembl transtripts involved in fusion geneENST00000470862, ENST00000605149, 
ENST00000439082, ENST00000380554, 
ENST00000377298, ENST00000361311, 
ENST00000377288, ENST00000477264, 
Fusion gene scores* DoF score2 X 3 X 2=125 X 5 X 3=75
# samples 37
** MAII scorelog2(3/12*10)=1.32192809488736
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(7/75*10)=-0.0995356735509144
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: AKR1C3 [Title/Abstract] AND CLSTN1 [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotation
* 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
HgeneAKR1C3

GO:0000060

protein import into nucleus, translocation

21787718

HgeneAKR1C3

GO:0007186

G-protein coupled receptor signaling pathway

18508192

HgeneAKR1C3

GO:0008284

positive regulation of cell proliferation

18508192|20036328

HgeneAKR1C3

GO:0010942

positive regulation of cell death

21787718

HgeneAKR1C3

GO:0016488

farnesol catabolic process

21187079

HgeneAKR1C3

GO:0034614

cellular response to reactive oxygen species

21787718

HgeneAKR1C3

GO:0042448

progesterone metabolic process

21232532

HgeneAKR1C3

GO:0042574

retinal metabolic process

21851338

HgeneAKR1C3

GO:0048385

regulation of retinoic acid receptor signaling pathway

21851338

HgeneAKR1C3

GO:0051897

positive regulation of protein kinase B signaling

18508192

HgeneAKR1C3

GO:0055114

oxidation-reduction process

16983398|19442656|21232532

HgeneAKR1C3

GO:0071276

cellular response to cadmium ion

21787718

HgeneAKR1C3

GO:0071277

cellular response to calcium ion

22170488

HgeneAKR1C3

GO:0071379

cellular response to prostaglandin stimulus

22170488

HgeneAKR1C3

GO:0071384

cellular response to corticosteroid stimulus

19336506

HgeneAKR1C3

GO:0071395

cellular response to jasmonic acid stimulus

19487289

HgeneAKR1C3

GO:0071799

cellular response to prostaglandin D stimulus

18508192

HgeneAKR1C3

GO:1900053

negative regulation of retinoic acid biosynthetic process

21851338

HgeneAKR1C3

GO:2000353

positive regulation of endothelial cell apoptotic process

19442656

HgeneAKR1C3

GO:2000379

positive regulation of reactive oxygen species metabolic process

19442656


check button Fusion gene information from three resources
(ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018))
* 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.
Data typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChiTaRS3.1BE720028AKR1C3chr10

5034107

+CLSTN1chr1

9811552

+
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

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-3CDSENST00000470862ENST00000377298AKR1C3chr10

5034107

+CLSTN1chr1

9811552

+
intron-3CDSENST00000470862ENST00000361311AKR1C3chr10

5034107

+CLSTN1chr1

9811552

+
intron-3CDSENST00000470862ENST00000377288AKR1C3chr10

5034107

+CLSTN1chr1

9811552

+
intron-intronENST00000470862ENST00000477264AKR1C3chr10

5034107

+CLSTN1chr1

9811552

+
intron-3CDSENST00000605149ENST00000377298AKR1C3chr10

5034107

+CLSTN1chr1

9811552

+
intron-3CDSENST00000605149ENST00000361311AKR1C3chr10

5034107

+CLSTN1chr1

9811552

+
intron-3CDSENST00000605149ENST00000377288AKR1C3chr10

5034107

+CLSTN1chr1

9811552

+
intron-intronENST00000605149ENST00000477264AKR1C3chr10

5034107

+CLSTN1chr1

9811552

+
intron-3CDSENST00000439082ENST00000377298AKR1C3chr10

5034107

+CLSTN1chr1

9811552

+
intron-3CDSENST00000439082ENST00000361311AKR1C3chr10

5034107

+CLSTN1chr1

9811552

+
intron-3CDSENST00000439082ENST00000377288AKR1C3chr10

5034107

+CLSTN1chr1

9811552

+
intron-intronENST00000439082ENST00000477264AKR1C3chr10

5034107

+CLSTN1chr1

9811552

+
intron-3CDSENST00000380554ENST00000377298AKR1C3chr10

5034107

+CLSTN1chr1

9811552

+
intron-3CDSENST00000380554ENST00000361311AKR1C3chr10

5034107

+CLSTN1chr1

9811552

+
intron-3CDSENST00000380554ENST00000377288AKR1C3chr10

5034107

+CLSTN1chr1

9811552

+
intron-intronENST00000380554ENST00000477264AKR1C3chr10

5034107

+CLSTN1chr1

9811552

+

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FusionProtFeatures for AKR1C3_CLSTN1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
AKR1C3

P42330

CLSTN1

O94985

Induces KLC1 association with vesicles and functions asa cargo in axonal anterograde transport. Complex formation withAPBA2 and APP, stabilizes APP metabolism and enhances APBA2-mediated suppression of beta-APP40 secretion, due to theretardation of intracellular APP maturation. In complex with APBA2and C99, a C-terminal APP fragment, abolishes C99 interaction withPSEN1 and thus APP C99 cleavage by gamma-secretase, most probablythrough stabilization of the direct interaction between APBA2 andAPP. The intracellular fragment AlcICD suppresses APBB1-dependenttransactivation stimulated by APP C-terminal intracellularfragment (AICD), most probably by competing with AICD for APBB1-binding. May modulate calcium-mediated postsynaptic signals (Bysimilarity). {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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FusionGeneSequence for AKR1C3_CLSTN1


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences.
(nt: nucleotides, aa: amino acids)

* Fusion amino acid sequences.

* Fusion transcript sequences (only coding sequence (CDS) region).

* Fusion transcript sequences (Full-length transcript).

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FusionGenePPI for AKR1C3_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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RelatedDrugs for AKR1C3_CLSTN1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneAKR1C3P42330DB00328IndomethacinAldo-keto reductase family 1 member C3small moleculeapproved|investigational
HgeneAKR1C3P42330DB00905BimatoprostAldo-keto reductase family 1 member C3small moleculeapproved|investigational

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RelatedDiseases for AKR1C3_CLSTN1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneAKR1C3C0032460Polycystic Ovary Syndrome3CTD_human
HgeneAKR1C3C0001973Alcoholic Intoxication, Chronic2PSYGENET
HgeneAKR1C3C0014175Endometriosis2CTD_human
HgeneAKR1C3C0033578Prostatic Neoplasms2CTD_human
HgeneAKR1C3C0005586Bipolar Disorder1PSYGENET
HgeneAKR1C3C0007621Neoplastic Cell Transformation1CTD_human
HgeneAKR1C3C0014170Endometrial Neoplasms1CTD_human
HgeneAKR1C3C0023893Liver Cirrhosis, Experimental1CTD_human
HgeneAKR1C3C0027661Neoplasms, Hormone-Dependent1CTD_human
HgeneAKR1C3C0028754Obesity1CTD_human
HgeneAKR1C3C0036875Disorders of Sex Development1CTD_human
HgeneAKR1C3C0038356Stomach Neoplasms1CTD_human
HgeneAKR1C3C0338831Manic1PSYGENET
HgeneAKR1C3C0564408Manic mood1PSYGENET
HgeneAKR1C3C3658267Prostatic Neoplasms, Castration-Resistant1CTD_human