|
||||||
|
 | |
| |
| |
| |
| |
|
Fusion gene ID: 33486 |
FusionGeneSummary for SFMBT2_AKR1C4 |
 Fusion gene summary |
| 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) |
| 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 |
| Hgene | SFMBT2 | GO:0010629 | negative regulation of gene expression | 23385818 |
| Tgene | AKR1C4 | 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 | 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 |
| 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 |
| 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 | + |
Top |
FusionProtFeatures for SFMBT2_AKR1C4 |
| Main function of each fusion partner protein. (from UniProt) |
| 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. |
| 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 |
Top |
FusionGeneSequence for SFMBT2_AKR1C4 |
| 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. |
| >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 |
Top |
FusionGenePPI for SFMBT2_AKR1C4 |
| 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 |
| SFMBT2 | MOV10, NXF1, CLK1, PHC1 | AKR1C4 | BAG3, AKR1C2, AKR1C3, PLXDC2, FBXL13 |
| - 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 |
Top |
RelatedDrugs for SFMBT2_AKR1C4 |
| 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 |
Top |
RelatedDiseases for SFMBT2_AKR1C4 |
| Diseases associated with fusion partners. (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 |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
|