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Fusion gene ID: 988 |
FusionGeneSummary for AFAP1_AKR1C1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: AFAP1_AKR1C1 | Fusion gene ID: 988 | Hgene | Tgene | Gene symbol | AFAP1 | AKR1C1 | Gene ID | 60312 | 1645 |
| Gene name | actin filament associated protein 1 | aldo-keto reductase family 1 member C1 | |
| Synonyms | AFAP|AFAP-110|AFAP110 | 2-ALPHA-HSD|20-ALPHA-HSD|C9|DD1|DD1/DD2|DDH|DDH1|H-37|HAKRC|HBAB|MBAB | |
| Cytomap | 4p16.1 | 10p15.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | actin filament-associated protein 1110 kDa actin filament-associated proteinactin filament-associated protein, 110 kDa | aldo-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 date | 20180519 | 20180523 | |
| UniProtAcc | Q8N556 | Q04828 | |
| Ensembl transtripts involved in fusion gene | ENST00000360265, ENST00000358461, ENST00000420658, ENST00000382543, ENST00000513842, | ENST00000434459, ENST00000477661, ENST00000380872, ENST00000380859, | |
| Fusion gene scores | * DoF score | 8 X 10 X 6=480 | 5 X 3 X 4=60 |
| # samples | 12 | 6 | |
| ** MAII score | log2(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) |
| 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 |
| Tgene | AKR1C1 | GO:0007586 | digestion | 8486699 |
| Tgene | AKR1C1 | GO:0008206 | bile acid metabolic process | 8486699 |
| Tgene | AKR1C1 | GO:0030855 | epithelial cell differentiation | 21492153 |
| Tgene | AKR1C1 | GO:0042448 | progesterone metabolic process | 21232532 |
| Tgene | AKR1C1 | GO:0042574 | retinal metabolic process | 21851338 |
| Tgene | AKR1C1 | GO:0051260 | protein homooligomerization | 8486699 |
| Tgene | AKR1C1 | GO:0055114 | oxidation-reduction process | 8486699|19442656|21232532 |
| Tgene | AKR1C1 | GO:0071395 | cellular response to jasmonic acid stimulus | 19487289 |
| 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 type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| TCGA | RV | LGG | TCGA-DH-A669-01A | AFAP1 | chr4 | 7774547 | - | AKR1C1 | chr10 | 4975429 | + |
| TCGA | RV | LGG | TCGA-DH-A669-02A | AFAP1 | chr4 | 7774547 | - | AKR1C1 | chr10 | 4975429 | + |
| * LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
| 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. |
| ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| 5CDS-5UTR | ENST00000360265 | ENST00000434459 | AFAP1 | chr4 | 7774547 | - | AKR1C1 | chr10 | 4975429 | + |
| 5CDS-intron | ENST00000360265 | ENST00000477661 | AFAP1 | chr4 | 7774547 | - | AKR1C1 | chr10 | 4975429 | + |
| 5CDS-intron | ENST00000360265 | ENST00000380872 | AFAP1 | chr4 | 7774547 | - | AKR1C1 | chr10 | 4975429 | + |
| 5CDS-intron | ENST00000360265 | ENST00000380859 | AFAP1 | chr4 | 7774547 | - | AKR1C1 | chr10 | 4975429 | + |
| 5CDS-5UTR | ENST00000358461 | ENST00000434459 | AFAP1 | chr4 | 7774547 | - | AKR1C1 | chr10 | 4975429 | + |
| 5CDS-intron | ENST00000358461 | ENST00000477661 | AFAP1 | chr4 | 7774547 | - | AKR1C1 | chr10 | 4975429 | + |
| 5CDS-intron | ENST00000358461 | ENST00000380872 | AFAP1 | chr4 | 7774547 | - | AKR1C1 | chr10 | 4975429 | + |
| 5CDS-intron | ENST00000358461 | ENST00000380859 | AFAP1 | chr4 | 7774547 | - | AKR1C1 | chr10 | 4975429 | + |
| 5CDS-5UTR | ENST00000420658 | ENST00000434459 | AFAP1 | chr4 | 7774547 | - | AKR1C1 | chr10 | 4975429 | + |
| 5CDS-intron | ENST00000420658 | ENST00000477661 | AFAP1 | chr4 | 7774547 | - | AKR1C1 | chr10 | 4975429 | + |
| 5CDS-intron | ENST00000420658 | ENST00000380872 | AFAP1 | chr4 | 7774547 | - | AKR1C1 | chr10 | 4975429 | + |
| 5CDS-intron | ENST00000420658 | ENST00000380859 | AFAP1 | chr4 | 7774547 | - | AKR1C1 | chr10 | 4975429 | + |
| 5CDS-5UTR | ENST00000382543 | ENST00000434459 | AFAP1 | chr4 | 7774547 | - | AKR1C1 | chr10 | 4975429 | + |
| 5CDS-intron | ENST00000382543 | ENST00000477661 | AFAP1 | chr4 | 7774547 | - | AKR1C1 | chr10 | 4975429 | + |
| 5CDS-intron | ENST00000382543 | ENST00000380872 | AFAP1 | chr4 | 7774547 | - | AKR1C1 | chr10 | 4975429 | + |
| 5CDS-intron | ENST00000382543 | ENST00000380859 | AFAP1 | chr4 | 7774547 | - | AKR1C1 | chr10 | 4975429 | + |
| 5UTR-5UTR | ENST00000513842 | ENST00000434459 | AFAP1 | chr4 | 7774547 | - | AKR1C1 | chr10 | 4975429 | + |
| 5UTR-intron | ENST00000513842 | ENST00000477661 | AFAP1 | chr4 | 7774547 | - | AKR1C1 | chr10 | 4975429 | + |
| 5UTR-intron | ENST00000513842 | ENST00000380872 | AFAP1 | chr4 | 7774547 | - | AKR1C1 | chr10 | 4975429 | + |
| 5UTR-intron | ENST00000513842 | ENST00000380859 | AFAP1 | chr4 | 7774547 | - | AKR1C1 | chr10 | 4975429 | + |
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FusionProtFeatures for AFAP1_AKR1C1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| AFAP1 | AKR1C1 |
| 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}. |
| 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 . * 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. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
| - In-frame and 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 |
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FusionGeneSequence for AFAP1_AKR1C1 |
| 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 |
| Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in . |
| Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160) |
| Hgene | Hgene's interactors | Tgene | Tgene's interactors |
| AFAP1 | AFAP1, 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, TES | AKR1C1 | MAPK3, COMMD8, FN1, PTPN3, AKR1C2, AKR1C3, AKR1D1, TFF3 |
| - Retained PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
| - Lost PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
| - Retained PPIs, but lost function due to frame-shift fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for AFAP1_AKR1C1 |
| Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.0 2018-04-02) |
| Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
| Tgene | AKR1C1 | Q04828 | DB00936 | Salicylic acid | Aldo-keto reductase family 1 member C1 | small molecule | approved|investigational|vet_approved |
| Tgene | AKR1C1 | Q04828 | DB00945 | Acetylsalicylic acid | Aldo-keto reductase family 1 member C1 | small molecule | approved|vet_approved |
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RelatedDiseases for AFAP1_AKR1C1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | AKR1C1 | C0007131 | Non-Small Cell Lung Carcinoma | 1 | CTD_human |
| Tgene | AKR1C1 | C0007621 | Neoplastic Cell Transformation | 1 | CTD_human |
| Tgene | AKR1C1 | C0014170 | Endometrial Neoplasms | 1 | CTD_human |
| Tgene | AKR1C1 | C0014175 | Endometriosis | 1 | CTD_human |
| Tgene | AKR1C1 | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
| Tgene | AKR1C1 | C0027661 | Neoplasms, Hormone-Dependent | 1 | CTD_human |
| Tgene | AKR1C1 | C0029408 | Degenerative polyarthritis | 1 | CTD_human |
| Tgene | AKR1C1 | C0032460 | Polycystic Ovary Syndrome | 1 | CTD_human |
| Tgene | AKR1C1 | C0036875 | Disorders of Sex Development | 1 | CTD_human |
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