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Fusion gene ID: 26952 |
FusionGeneSummary for PHF3_AKR1C1 |
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Fusion gene information | Fusion gene name: PHF3_AKR1C1 | Fusion gene ID: 26952 | Hgene | Tgene | Gene symbol | PHF3 | AKR1C1 | Gene ID | 23469 | 1645 |
Gene name | PHD finger protein 3 | aldo-keto reductase family 1 member C1 | |
Synonyms | - | 2-ALPHA-HSD|20-ALPHA-HSD|C9|DD1|DD1/DD2|DDH|DDH1|H-37|HAKRC|HBAB|MBAB | |
Cytomap | 6q12 | 10p15.1 | |
Type of gene | protein-coding | protein-coding | |
Description | PHD finger protein 3 | 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 | Q92576 | Q04828 | |
Ensembl transtripts involved in fusion gene | ENST00000262043, ENST00000509330, ENST00000393387, ENST00000420043, | ENST00000434459, ENST00000477661, ENST00000380872, ENST00000380859, | |
Fusion gene scores | * DoF score | 11 X 5 X 7=385 | 5 X 3 X 4=60 |
# samples | 13 | 6 | |
** MAII score | log2(13/385*10)=-1.56634682255381 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(6/60*10)=0 | |
Context | PubMed: PHF3 [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) |
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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 |
![]() (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 | LD | PRAD | TCGA-HC-A9TE-01A | PHF3 | chr6 | 64346055 | + | AKR1C1 | chr10 | 5008106 | + |
* LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
![]() * 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 |
5UTR-3CDS | ENST00000262043 | ENST00000434459 | PHF3 | chr6 | 64346055 | + | AKR1C1 | chr10 | 5008106 | + |
5UTR-3UTR | ENST00000262043 | ENST00000477661 | PHF3 | chr6 | 64346055 | + | AKR1C1 | chr10 | 5008106 | + |
5UTR-3UTR | ENST00000262043 | ENST00000380872 | PHF3 | chr6 | 64346055 | + | AKR1C1 | chr10 | 5008106 | + |
5UTR-3UTR | ENST00000262043 | ENST00000380859 | PHF3 | chr6 | 64346055 | + | AKR1C1 | chr10 | 5008106 | + |
intron-3CDS | ENST00000509330 | ENST00000434459 | PHF3 | chr6 | 64346055 | + | AKR1C1 | chr10 | 5008106 | + |
intron-3UTR | ENST00000509330 | ENST00000477661 | PHF3 | chr6 | 64346055 | + | AKR1C1 | chr10 | 5008106 | + |
intron-3UTR | ENST00000509330 | ENST00000380872 | PHF3 | chr6 | 64346055 | + | AKR1C1 | chr10 | 5008106 | + |
intron-3UTR | ENST00000509330 | ENST00000380859 | PHF3 | chr6 | 64346055 | + | AKR1C1 | chr10 | 5008106 | + |
intron-3CDS | ENST00000393387 | ENST00000434459 | PHF3 | chr6 | 64346055 | + | AKR1C1 | chr10 | 5008106 | + |
intron-3UTR | ENST00000393387 | ENST00000477661 | PHF3 | chr6 | 64346055 | + | AKR1C1 | chr10 | 5008106 | + |
intron-3UTR | ENST00000393387 | ENST00000380872 | PHF3 | chr6 | 64346055 | + | AKR1C1 | chr10 | 5008106 | + |
intron-3UTR | ENST00000393387 | ENST00000380859 | PHF3 | chr6 | 64346055 | + | AKR1C1 | chr10 | 5008106 | + |
intron-3CDS | ENST00000420043 | ENST00000434459 | PHF3 | chr6 | 64346055 | + | AKR1C1 | chr10 | 5008106 | + |
intron-3UTR | ENST00000420043 | ENST00000477661 | PHF3 | chr6 | 64346055 | + | AKR1C1 | chr10 | 5008106 | + |
intron-3UTR | ENST00000420043 | ENST00000380872 | PHF3 | chr6 | 64346055 | + | AKR1C1 | chr10 | 5008106 | + |
intron-3UTR | ENST00000420043 | ENST00000380859 | PHF3 | chr6 | 64346055 | + | AKR1C1 | chr10 | 5008106 | + |
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FusionProtFeatures for PHF3_AKR1C1 |
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Hgene | Tgene |
PHF3 | AKR1C1 |
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}. |
![]() * 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 PHF3_AKR1C1 |
![]() (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 PHF3_AKR1C1 |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
PHF3 | SIRT7, MAPK3, HECW2, BMI1, CLK1, ORC1, SUPT5H, YWHAZ, USP37, TMA16, ID2, TRIM25 | AKR1C1 | MAPK3, COMMD8, FN1, PTPN3, AKR1C2, AKR1C3, AKR1D1, TFF3 |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for PHF3_AKR1C1 |
![]() (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 PHF3_AKR1C1 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | PHF3 | C0001973 | Alcoholic Intoxication, Chronic | 2 | PSYGENET |
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 |