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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: 33486

FusionGeneSummary for SFMBT2_AKR1C4

check button Fusion gene summary
Fusion gene informationFusion gene name: SFMBT2_AKR1C4
Fusion gene ID: 33486
HgeneTgene
Gene symbol

SFMBT2

AKR1C4

Gene ID

57713

1109

Gene nameScm like with four mbt domains 2aldo-keto reductase family 1 member C4
Synonyms-3-alpha-HSD|C11|CDR|CHDR|DD-4|DD4|HAKRA
Cytomap

10p14

10p15.1

Type of geneprotein-codingprotein-coding
Descriptionscm-like with four MBT domains protein 2Scm-related gene containing four mbt domains 2scm-like with 4 MBT domains protein 2aldo-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 date2018051920180523
UniProtAcc

Q5VUG0

P17516

Ensembl transtripts involved in fusion geneENST00000361972, ENST00000397167, 
ENST00000379713, ENST00000379711, 
ENST00000397160, 
ENST00000380448, 
ENST00000263126, 
Fusion gene scores* DoF score2 X 1 X 2=41 X 1 X 1=1
# samples 21
** MAII scorelog2(2/4*10)=2.32192809488736log2(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)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
HgeneSFMBT2

GO:0010629

negative regulation of gene expression

23385818

TgeneAKR1C4

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
TCGALDLUSCTCGA-66-2766-01ASFMBT2chr10

7409611

-AKR1C4chr10

5237428

+
* 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
Frame-shiftENST00000361972ENST00000380448SFMBT2chr10

7409611

-AKR1C4chr10

5237428

+
5CDS-intronENST00000361972ENST00000263126SFMBT2chr10

7409611

-AKR1C4chr10

5237428

+
Frame-shiftENST00000397167ENST00000380448SFMBT2chr10

7409611

-AKR1C4chr10

5237428

+
5CDS-intronENST00000397167ENST00000263126SFMBT2chr10

7409611

-AKR1C4chr10

5237428

+
Frame-shiftENST00000379713ENST00000380448SFMBT2chr10

7409611

-AKR1C4chr10

5237428

+
5CDS-intronENST00000379713ENST00000263126SFMBT2chr10

7409611

-AKR1C4chr10

5237428

+
In-frameENST00000379711ENST00000380448SFMBT2chr10

7409611

-AKR1C4chr10

5237428

+
5CDS-intronENST00000379711ENST00000263126SFMBT2chr10

7409611

-AKR1C4chr10

5237428

+
Frame-shiftENST00000397160ENST00000380448SFMBT2chr10

7409611

-AKR1C4chr10

5237428

+
5CDS-intronENST00000397160ENST00000263126SFMBT2chr10

7409611

-AKR1C4chr10

5237428

+

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FusionProtFeatures for SFMBT2_AKR1C4


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
SFMBT2

Q5VUG0

AKR1C4

P17516

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.

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 SFMBT2_AKR1C4


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.
>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


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
SFMBT2MOV10, NXF1, CLK1, PHC1AKR1C4BAG3, AKR1C2, AKR1C3, PLXDC2, FBXL13


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 SFMBT2_AKR1C4


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for SFMBT2_AKR1C4


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneAKR1C4C0005586Bipolar Disorder2CTD_human;PSYGENET
TgeneAKR1C4C0001973Alcoholic Intoxication, Chronic1PSYGENET
TgeneAKR1C4C1456784Paranoia1CTD_human