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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: 988

FusionGeneSummary for AFAP1_AKR1C1

check button Fusion gene summary
Fusion gene informationFusion gene name: AFAP1_AKR1C1
Fusion gene ID: 988
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

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 date2018051920180523
UniProtAcc

Q8N556

Q04828

Ensembl transtripts involved in fusion geneENST00000360265, ENST00000358461, 
ENST00000420658, ENST00000382543, 
ENST00000513842, 
ENST00000434459, 
ENST00000477661, ENST00000380872, 
ENST00000380859, 
Fusion gene scores* DoF score8 X 10 X 6=4805 X 3 X 4=60
# samples 126
** MAII scorelog2(12/480*10)=-2
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(6/60*10)=0
Context

PubMed: AFAP1 [Title/Abstract] AND AKR1C1 [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
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:0051260

protein homooligomerization

8486699

TgeneAKR1C1

GO:0055114

oxidation-reduction process

8486699|19442656|21232532

TgeneAKR1C1

GO:0071395

cellular response to jasmonic acid stimulus

19487289


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
TCGARVLGGTCGA-DH-A669-01AAFAP1chr4

7774547

-AKR1C1chr10

4975429

+
TCGARVLGGTCGA-DH-A669-02AAFAP1chr4

7774547

-AKR1C1chr10

4975429

+
* 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
5CDS-5UTRENST00000360265ENST00000434459AFAP1chr4

7774547

-AKR1C1chr10

4975429

+
5CDS-intronENST00000360265ENST00000477661AFAP1chr4

7774547

-AKR1C1chr10

4975429

+
5CDS-intronENST00000360265ENST00000380872AFAP1chr4

7774547

-AKR1C1chr10

4975429

+
5CDS-intronENST00000360265ENST00000380859AFAP1chr4

7774547

-AKR1C1chr10

4975429

+
5CDS-5UTRENST00000358461ENST00000434459AFAP1chr4

7774547

-AKR1C1chr10

4975429

+
5CDS-intronENST00000358461ENST00000477661AFAP1chr4

7774547

-AKR1C1chr10

4975429

+
5CDS-intronENST00000358461ENST00000380872AFAP1chr4

7774547

-AKR1C1chr10

4975429

+
5CDS-intronENST00000358461ENST00000380859AFAP1chr4

7774547

-AKR1C1chr10

4975429

+
5CDS-5UTRENST00000420658ENST00000434459AFAP1chr4

7774547

-AKR1C1chr10

4975429

+
5CDS-intronENST00000420658ENST00000477661AFAP1chr4

7774547

-AKR1C1chr10

4975429

+
5CDS-intronENST00000420658ENST00000380872AFAP1chr4

7774547

-AKR1C1chr10

4975429

+
5CDS-intronENST00000420658ENST00000380859AFAP1chr4

7774547

-AKR1C1chr10

4975429

+
5CDS-5UTRENST00000382543ENST00000434459AFAP1chr4

7774547

-AKR1C1chr10

4975429

+
5CDS-intronENST00000382543ENST00000477661AFAP1chr4

7774547

-AKR1C1chr10

4975429

+
5CDS-intronENST00000382543ENST00000380872AFAP1chr4

7774547

-AKR1C1chr10

4975429

+
5CDS-intronENST00000382543ENST00000380859AFAP1chr4

7774547

-AKR1C1chr10

4975429

+
5UTR-5UTRENST00000513842ENST00000434459AFAP1chr4

7774547

-AKR1C1chr10

4975429

+
5UTR-intronENST00000513842ENST00000477661AFAP1chr4

7774547

-AKR1C1chr10

4975429

+
5UTR-intronENST00000513842ENST00000380872AFAP1chr4

7774547

-AKR1C1chr10

4975429

+
5UTR-intronENST00000513842ENST00000380859AFAP1chr4

7774547

-AKR1C1chr10

4975429

+

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FusionProtFeatures for AFAP1_AKR1C1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
AFAP1

Q8N556

AKR1C1

Q04828

Can cross-link actin filaments into both network andbundle structures (By similarity). May modulate changes in actinfilament integrity and induce lamellipodia formation. May functionas an adapter molecule that links other proteins, such as SRC andPKC to the actin cytoskeleton. Seems to play a role in thedevelopment and progression of prostate adenocarcinoma byregulating cell-matrix adhesions and migration in the cancercells. {ECO:0000250, ECO:0000269|PubMed:15485829}. Converts progesterone to its inactive form, 20-alpha-dihydroxyprogesterone (20-alpha-OHP). In the liver and intestine,may have a role in the transport of bile. May have a role inmonitoring the intrahepatic bile acid concentration. Has a lowbile-binding ability. May play a role in myelin formation.{ECO:0000269|PubMed:11013348, ECO:0000269|PubMed:8573067}.

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 AFAP1_AKR1C1


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 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
AFAP1AFAP1, ACTC1, PRKCB, PRKCE, PRKCG, PRKCD, PRKCA, MYC, NXF1, BRCA1, CAPZA2, CDK2, DBN1, FLNA, GAK, MYH9, MYO1C, PPP1CB, IQGAP1, SYNPO, MAPRE1, TPX2, LIMA1, ANLN, MYO5C, MYO19, MYO18A, EXT2, TRIM25, TESAKR1C1MAPK3, COMMD8, FN1, PTPN3, AKR1C2, AKR1C3, AKR1D1, TFF3


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 AFAP1_AKR1C1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneAKR1C1Q04828DB00936Salicylic acidAldo-keto reductase family 1 member C1small moleculeapproved|investigational|vet_approved
TgeneAKR1C1Q04828DB00945Acetylsalicylic acidAldo-keto reductase family 1 member C1small moleculeapproved|vet_approved

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RelatedDiseases for AFAP1_AKR1C1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneAKR1C1C0007131Non-Small Cell Lung Carcinoma1CTD_human
TgeneAKR1C1C0007621Neoplastic Cell Transformation1CTD_human
TgeneAKR1C1C0014170Endometrial Neoplasms1CTD_human
TgeneAKR1C1C0014175Endometriosis1CTD_human
TgeneAKR1C1C0023893Liver Cirrhosis, Experimental1CTD_human
TgeneAKR1C1C0027661Neoplasms, Hormone-Dependent1CTD_human
TgeneAKR1C1C0029408Degenerative polyarthritis1CTD_human
TgeneAKR1C1C0032460Polycystic Ovary Syndrome1CTD_human
TgeneAKR1C1C0036875Disorders of Sex Development1CTD_human