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Fusion gene ID: 33486 |
FusionGeneSummary for SFMBT2_AKR1C4 |
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Fusion gene information | Fusion gene name: SFMBT2_AKR1C4 | Fusion gene ID: 33486 | Hgene | Tgene | Gene symbol | SFMBT2 | AKR1C4 | Gene ID | 57713 | 1109 |
Gene name | Scm like with four mbt domains 2 | aldo-keto reductase family 1 member C4 | |
Synonyms | - | 3-alpha-HSD|C11|CDR|CHDR|DD-4|DD4|HAKRA | |
Cytomap | 10p14 | 10p15.1 | |
Type of gene | protein-coding | protein-coding | |
Description | scm-like with four MBT domains protein 2Scm-related gene containing four mbt domains 2scm-like with 4 MBT domains protein 2 | aldo-keto reductase family 1 member C43-alpha-HSD1chlordecone reductase; 3-alpha hydroxysteroid dehydrogenase, type I; dihydrodiol dehydrogenase 4dihydrodiol dehydrogenase isozyme DD4type I 3-alpha-hydroxysteroid dehydrogenase | |
Modification date | 20180519 | 20180523 | |
UniProtAcc | Q5VUG0 | P17516 | |
Ensembl transtripts involved in fusion gene | ENST00000361972, ENST00000397167, ENST00000379713, ENST00000379711, ENST00000397160, | ENST00000380448, ENST00000263126, | |
Fusion gene scores | * DoF score | 2 X 1 X 2=4 | 1 X 1 X 1=1 |
# samples | 2 | 1 | |
** MAII score | log2(2/4*10)=2.32192809488736 | log2(1/1*10)=3.32192809488736 | |
Context | PubMed: SFMBT2 [Title/Abstract] AND AKR1C4 [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 |
Hgene | SFMBT2 | GO:0010629 | negative regulation of gene expression | 23385818 |
Tgene | AKR1C4 | 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 | LUSC | TCGA-66-2766-01A | SFMBT2 | chr10 | 7409611 | - | AKR1C4 | chr10 | 5237428 | + |
* 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 |
Frame-shift | ENST00000361972 | ENST00000380448 | SFMBT2 | chr10 | 7409611 | - | AKR1C4 | chr10 | 5237428 | + |
5CDS-intron | ENST00000361972 | ENST00000263126 | SFMBT2 | chr10 | 7409611 | - | AKR1C4 | chr10 | 5237428 | + |
Frame-shift | ENST00000397167 | ENST00000380448 | SFMBT2 | chr10 | 7409611 | - | AKR1C4 | chr10 | 5237428 | + |
5CDS-intron | ENST00000397167 | ENST00000263126 | SFMBT2 | chr10 | 7409611 | - | AKR1C4 | chr10 | 5237428 | + |
Frame-shift | ENST00000379713 | ENST00000380448 | SFMBT2 | chr10 | 7409611 | - | AKR1C4 | chr10 | 5237428 | + |
5CDS-intron | ENST00000379713 | ENST00000263126 | SFMBT2 | chr10 | 7409611 | - | AKR1C4 | chr10 | 5237428 | + |
In-frame | ENST00000379711 | ENST00000380448 | SFMBT2 | chr10 | 7409611 | - | AKR1C4 | chr10 | 5237428 | + |
5CDS-intron | ENST00000379711 | ENST00000263126 | SFMBT2 | chr10 | 7409611 | - | AKR1C4 | chr10 | 5237428 | + |
Frame-shift | ENST00000397160 | ENST00000380448 | SFMBT2 | chr10 | 7409611 | - | AKR1C4 | chr10 | 5237428 | + |
5CDS-intron | ENST00000397160 | ENST00000263126 | SFMBT2 | chr10 | 7409611 | - | AKR1C4 | chr10 | 5237428 | + |
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FusionProtFeatures for SFMBT2_AKR1C4 |
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Hgene | Tgene |
SFMBT2 | AKR1C4 |
Transcriptional repressor of HOXB13 gene.{ECO:0000269|PubMed:23385818}. | Catalyzes the transformation of the potent androgendihydrotestosterone (DHT) into the less active form, 5-alpha-androstan-3-alpha,17-beta-diol (3-alpha-diol). Also has some 20-alpha-hydroxysteroid dehydrogenase activity. The biotransformationof the pesticide chlordecone (kepone) to its corresponding alcoholleads to increased biliary excretion of the pesticide andconcomitant reduction of its neurotoxicity since bile is the majorexcretory route. |
![]() * 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 SFMBT2_AKR1C4 |
![]() (nt: nucleotides, aa: amino acids) |
* Fusion amino acid sequences. |
>In-frame_SFMBT2_ENST00000379711_chr10_7409611_-_AKR1C4_ENST00000380448_chr10_5237428_+_408aa RKKXIEEKRVLQIKSTXRYHLTPVRMAILKMSDNNRYWIATSSGPHLHQEXIFLLQLKKKQNXFVGEKHVAEGNRICLVKEVASNGSQIS ACRAKXWSLHARIGIWHLCTSRGSEEQSCRGHQISNRSWLPPYXFCLFIQXXGAGWTGHPKQDCRWQCEERRHILHFKALVHFLSTTDGP TSLGKLTEKTSTGLCXPLSSSFPNGSQARXDATTKRXKWKSNIRHSGSLCHMGGHGEVXGCRIGQVHRGVKLQLQAAGDDPQQARTQVQA CLQPGRMSSLPQPEQTAGFLQVKRHCSGCPQCSGNPTTXTMGGPKLPSSFGGPSSLCLSKETQTNPSPDCPALPAAAWGCGPGQELQXAA |
* Fusion transcript sequences (only coding sequence (CDS) region). |
>In-frame_SFMBT2_ENST00000379711_chr10_7409611_-_AKR1C4_ENST00000380448_chr10_5237428_+_1225nt AGGAAGAAGTGAATAGAAGAAAAGAGGGTGTTGCAAATCAAAAGCACATAGAGATATCATCTTACACCAGTCAGAATGGCTATTCTTAAA ATGTCAGACAACAACAGATATTGGATTGCCACATCATCAGGACCACACCTTCATCAGGAATGAATATTCCTACTACAATTAAAGAAGAAA CAAAATTAATTTGTTGGTGAAAAACATGTTGCTGAAGGAAACAGGATCTGCTTAGTGAAAGAAGTGGCAAGCAATGGATCCCAAATATCA GCGTGTAGAGCTAAATGATGGTCACTTCATGCCCGTATTGGGATTTGGCACCTATGCACCTCCAGAGGTTCCGAGGAACAGAGCTGTAGA GGTCACCAAATTAGCAATAGAAGCTGGCTTCCGCCATATTGATTCTGCTTATTTATACAATAATGAGGAGCAGGTTGGACTGGCCATCCG AAGCAAGATTGCAGATGGCAGTGTGAAGAGAGAAGACATATTCTACACTTCAAAGCTTTGGTGCACTTTCTTTCAACCACAGATGGTCCA ACCAGCCTTGGAAAGCTCACTGAAAAAACTTCAACTGGACTATGTTGACCTCTATCTTCTTCATTTCCCAATGGCTCTCAAGCCAGGTGA GACGCCACTACCAAAAGATGAAAATGGAAAAGTAATATTCGACACAGTGGATCTCTCTGCCACATGGGAGGTCATGGAGAAGTGTAAGGA TGCAGGATTGGCCAAGTCCATCGGGGTGTCAAACTTCAACTGCAGGCAGCTGGAGATGATCCTCAACAAGCCAGGACTCAAGTACAAGCC TGTCTGCAACCAGGTAGAATGTCATCCTTACCTCAACCAGAGCAAACTGCTGGATTTCTGCAAGTCAAAAGACATTGTTCTGGTTGCCCA CAGTGCTCTGGGAACCCAACGACATAAACTATGGGTGGACCCAAACTCCCCAGTTCTTTTGGAGGACCCAGTTCTTTGTGCCTTAGCAAA GAAACACAAACAAACCCCAGCCCTGATTGCCCTGCGCTACCAGCTGCAGCGTGGGGTTGTGGTCCTGGCCAAGAGCTACAATGAGCAGCG GATCAGAGAGAACATCCAGGTTTTTGAATTCCAGTTGACATCAGAGGATATGAAAGTTCTAGATGGTCTAAACAGAAATTATCGATATGT |
* Fusion transcript sequences (Full-length transcript). |
>In-frame_SFMBT2_ENST00000379711_chr10_7409611_-_AKR1C4_ENST00000380448_chr10_5237428_+_1914nt AACGCGAGCTCGGGTAATTTTTTCTGCAGGATGAATTAAGAGAAGAGACACTTGCTCATCAGGCATGGAGAGCACTTTGTCAGCTTCCAA TATGCAAGACCCTTCATCTTCACCCTTGGAAAAGTGTCTCGGCTCAGCTAATGGAAATGGAGACCTTGATTCTGAAGAAGGCTCAAGCTT GGAGGAAACTGGCTTTAACTGGGGAGAATATTTGGAAGAGACAGGAGCAAGTGCTGCTCCCCACACATCATTCAAACACGTTGAAATCAG CATTCAGAGCAACTTCCAGCCAGGAATGAAATTGGAAGTGGCTAATAAGAACAACCCGGACACGTACTGGGTGGCCACGATCATTACCAC GTGCGGGCAGCTGCTGCTTCTGCGCTACTGCGGTTACGGGGAGGACCGCAGGGCCGACTTCTGGTGTGACGTAGTCATCGCGGATTTGCA CCCCGTGGGGTGGTGCACACAGAACAACAAGGTGTTGATGCCGCCGGACGAGGAAGAAGTGAATAGAAGAAAAGAGGGTGTTGCAAATCA AAAGCACATAGAGATATCATCTTACACCAGTCAGAATGGCTATTCTTAAAATGTCAGACAACAACAGATATTGGATTGCCACATCATCAG GACCACACCTTCATCAGGAATGAATATTCCTACTACAATTAAAGAAGAAACAAAATTAATTTGTTGGTGAAAAACATGTTGCTGAAGGAA ACAGGATCTGCTTAGTGAAAGAAGTGGCAAGCAATGGATCCCAAATATCAGCGTGTAGAGCTAAATGATGGTCACTTCATGCCCGTATTG GGATTTGGCACCTATGCACCTCCAGAGGTTCCGAGGAACAGAGCTGTAGAGGTCACCAAATTAGCAATAGAAGCTGGCTTCCGCCATATT GATTCTGCTTATTTATACAATAATGAGGAGCAGGTTGGACTGGCCATCCGAAGCAAGATTGCAGATGGCAGTGTGAAGAGAGAAGACATA TTCTACACTTCAAAGCTTTGGTGCACTTTCTTTCAACCACAGATGGTCCAACCAGCCTTGGAAAGCTCACTGAAAAAACTTCAACTGGAC TATGTTGACCTCTATCTTCTTCATTTCCCAATGGCTCTCAAGCCAGGTGAGACGCCACTACCAAAAGATGAAAATGGAAAAGTAATATTC GACACAGTGGATCTCTCTGCCACATGGGAGGTCATGGAGAAGTGTAAGGATGCAGGATTGGCCAAGTCCATCGGGGTGTCAAACTTCAAC TGCAGGCAGCTGGAGATGATCCTCAACAAGCCAGGACTCAAGTACAAGCCTGTCTGCAACCAGGTAGAATGTCATCCTTACCTCAACCAG AGCAAACTGCTGGATTTCTGCAAGTCAAAAGACATTGTTCTGGTTGCCCACAGTGCTCTGGGAACCCAACGACATAAACTATGGGTGGAC CCAAACTCCCCAGTTCTTTTGGAGGACCCAGTTCTTTGTGCCTTAGCAAAGAAACACAAACAAACCCCAGCCCTGATTGCCCTGCGCTAC CAGCTGCAGCGTGGGGTTGTGGTCCTGGCCAAGAGCTACAATGAGCAGCGGATCAGAGAGAACATCCAGGTTTTTGAATTCCAGTTGACA TCAGAGGATATGAAAGTTCTAGATGGTCTAAACAGAAATTATCGATATGTTGTCATGGATTTTCTTATGGACCATCCTGATTATCCATTT TCAGATGAATATTAGCATAGAGGGTGTTGCACGACATCTAGCAGAAGGCCCTGTGTGTGGATGGTGATGCAGAGGATGTCTCTATGCTGG TGACTGGACACACAGCCTCTGGTTAAATCCCTCCCCTCCTGCTTGGCAACTTCAGCTAGCTAGATATATCCATGGTCCAGAAAGCAAACA |
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FusionGenePPI for SFMBT2_AKR1C4 |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
SFMBT2 | MOV10, NXF1, CLK1, PHC1 | AKR1C4 | BAG3, AKR1C2, AKR1C3, PLXDC2, FBXL13 |
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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 SFMBT2_AKR1C4 |
![]() (DrugBank Version 5.1.0 2018-04-02) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for SFMBT2_AKR1C4 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Tgene | AKR1C4 | C0005586 | Bipolar Disorder | 2 | CTD_human;PSYGENET |
Tgene | AKR1C4 | C0001973 | Alcoholic Intoxication, Chronic | 1 | PSYGENET |
Tgene | AKR1C4 | C1456784 | Paranoia | 1 | CTD_human |