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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:AFAP1-AKR1C1 (FusionGDB2 ID:HG60312TG1645)

Fusion Gene Summary for AFAP1-AKR1C1

check button Fusion gene summary
Fusion gene informationFusion gene name: AFAP1-AKR1C1
Fusion gene ID: hg60312tg1645
HgeneTgene
Gene symbol

AFAP1

AKR1C1

Gene ID

60312

1645

Gene nameactin filament associated protein 1aldo-keto reductase family 1 member C1
SynonymsAFAP|AFAP-110|AFAP1102-ALPHA-HSD|20-ALPHA-HSD|C9|DD1|DD1/DD2|DDH|DDH1|H-37|HAKRC|HBAB|MBAB
Cytomap('AFAP1')('AKR1C1')

4p16.1

10p15.1

Type of geneprotein-codingprotein-coding
Descriptionactin filament-associated protein 1110 kDa actin filament-associated proteinactin filament-associated protein, 110 kDaaldo-keto reductase family 1 member C120 alpha-hydroxysteroid dehydrogenasealdo-keto reductase Cchlordecone reductase homolog HAKRCdihydrodiol dehydrogenase 1dihydrodiol dehydrogenase 1/2dihydrodiol dehydrogenase 1; 20-alpha (3-alpha)-hydroxysteroid
Modification date2020031320200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000358461, ENST00000360265, 
ENST00000382543, ENST00000420658, 
ENST00000513842, 
Fusion gene scores* DoF score11 X 17 X 7=13095 X 3 X 4=60
# samples 195
** MAII scorelog2(19/1309*10)=-2.78439377361429
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(5/60*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: AFAP1 [Title/Abstract] AND AKR1C1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointAFAP1(7774547)-AKR1C1(4975429), # samples:3
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
TgeneAKR1C1

GO:0007586

digestion

8486699

TgeneAKR1C1

GO:0008206

bile acid metabolic process

8486699

TgeneAKR1C1

GO:0030855

epithelial cell differentiation

21492153

TgeneAKR1C1

GO:0042448

progesterone metabolic process

21232532

TgeneAKR1C1

GO:0042574

retinal metabolic process

21851338

TgeneAKR1C1

GO:0055114

oxidation-reduction process

8486699|19442656|21232532

TgeneAKR1C1

GO:0071395

cellular response to jasmonic acid stimulus

19487289



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
ChimerDB4LGGTCGA-DH-A669-01AAFAP1chr4

7774547

-AKR1C1chr10

4975429

+
ChimerDB4LGGTCGA-DH-A669-02AAFAP1chr4

7774547

-AKR1C1chr10

4975429

+
ChimerDB4LGGTCGA-DH-A669AFAP1chr4

7774547

-AKR1C1chr10

4975429

+


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Fusion Gene ORF analysis for AFAP1-AKR1C1

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
5CDS-5UTRENST00000358461ENST00000434459AFAP1chr4

7774547

-AKR1C1chr10

4975429

+
5CDS-5UTRENST00000360265ENST00000434459AFAP1chr4

7774547

-AKR1C1chr10

4975429

+
5CDS-5UTRENST00000382543ENST00000434459AFAP1chr4

7774547

-AKR1C1chr10

4975429

+
5CDS-5UTRENST00000420658ENST00000434459AFAP1chr4

7774547

-AKR1C1chr10

4975429

+
5CDS-intronENST00000358461ENST00000380859AFAP1chr4

7774547

-AKR1C1chr10

4975429

+
5CDS-intronENST00000358461ENST00000380872AFAP1chr4

7774547

-AKR1C1chr10

4975429

+
5CDS-intronENST00000358461ENST00000477661AFAP1chr4

7774547

-AKR1C1chr10

4975429

+
5CDS-intronENST00000360265ENST00000380859AFAP1chr4

7774547

-AKR1C1chr10

4975429

+
5CDS-intronENST00000360265ENST00000380872AFAP1chr4

7774547

-AKR1C1chr10

4975429

+
5CDS-intronENST00000360265ENST00000477661AFAP1chr4

7774547

-AKR1C1chr10

4975429

+
5CDS-intronENST00000382543ENST00000380859AFAP1chr4

7774547

-AKR1C1chr10

4975429

+
5CDS-intronENST00000382543ENST00000380872AFAP1chr4

7774547

-AKR1C1chr10

4975429

+
5CDS-intronENST00000382543ENST00000477661AFAP1chr4

7774547

-AKR1C1chr10

4975429

+
5CDS-intronENST00000420658ENST00000380859AFAP1chr4

7774547

-AKR1C1chr10

4975429

+
5CDS-intronENST00000420658ENST00000380872AFAP1chr4

7774547

-AKR1C1chr10

4975429

+
5CDS-intronENST00000420658ENST00000477661AFAP1chr4

7774547

-AKR1C1chr10

4975429

+
5UTR-5UTRENST00000513842ENST00000434459AFAP1chr4

7774547

-AKR1C1chr10

4975429

+
5UTR-intronENST00000513842ENST00000380859AFAP1chr4

7774547

-AKR1C1chr10

4975429

+
5UTR-intronENST00000513842ENST00000380872AFAP1chr4

7774547

-AKR1C1chr10

4975429

+
5UTR-intronENST00000513842ENST00000477661AFAP1chr4

7774547

-AKR1C1chr10

4975429

+

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 AFAP1-AKR1C1


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)
AFAP1chr47774546-AKR1C1chr104975428+0.000195490.99980456
AFAP1chr47774546-AKR1C1chr104975428+0.000195490.99980456
AFAP1chr47774546-AKR1C1chr104975428+0.000195490.99980456
AFAP1chr47774546-AKR1C1chr104975428+0.000195490.99980456


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.
genomic feature of top 1%

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Fusion Protein Features for AFAP1-AKR1C1


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/:7774547/:4975429)
- 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

- 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 AFAP1-AKR1C1


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 AFAP1-AKR1C1


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 AFAP1-AKR1C1


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 AFAP1-AKR1C1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneC0007131Non-Small Cell Lung Carcinoma1CTD_human
TgeneC0007621Neoplastic Cell Transformation1CTD_human
TgeneC0014170Endometrial Neoplasms1CTD_human
TgeneC0014175Endometriosis1CTD_human
TgeneC0019269Hermaphroditism1CTD_human
TgeneC0023893Liver Cirrhosis, Experimental1CTD_human
TgeneC0027661Neoplasms, Hormone-Dependent1CTD_human
TgeneC0029408Degenerative polyarthritis1CTD_human
TgeneC0032460Polycystic Ovary Syndrome1CTD_human
TgeneC0033804Pseudohermaphroditism1CTD_human
TgeneC0036875Disorders of Sex Development1CTD_human
TgeneC0086743Osteoarthrosis Deformans1CTD_human
TgeneC0266362Ambiguous Genitalia1CTD_human
TgeneC0269102Endometrioma1CTD_human
TgeneC0476089Endometrial Carcinoma1CTD_human
TgeneC1136382Sclerocystic Ovaries1CTD_human
TgeneC2930618Intersex Conditions1CTD_human
TgeneC2930619Sex Differentiation Disorders1CTD_human