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Center for Computational Systems Medicine
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Fusion Gene Summary

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Fusion Gene ORF analysis

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Fusion Genomic Features

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Fusion Protein Features

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Fusion Gene Sequence

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Fusion Gene PPI analysis

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Related Drugs

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Related Diseases

Fusion gene:HSD17B14-SAFB (FusionGDB2 ID:37671)

Fusion Gene Summary for HSD17B14-SAFB

check button Fusion gene summary
Fusion gene informationFusion gene name: HSD17B14-SAFB
Fusion gene ID: 37671
HgeneTgene
Gene symbol

HSD17B14

SAFB

Gene ID

51171

6294

Gene namehydroxysteroid 17-beta dehydrogenase 14scaffold attachment factor B
SynonymsDHRS10|SDR47C1|retSDR3HAP|HET|SAB-B1|SAF-B|SAF-B1|SAFB1
Cytomap

19q13.33

19p13.3

Type of geneprotein-codingprotein-coding
Description17-beta-hydroxysteroid dehydrogenase 1417-beta-HSD 1417-beta-hydroxysteroid dehydrogenase DHRS10dehydrogenase/reductase (SDR family) member 10retinal short-chain dehydrogenase/reductase 3retinal short-chain dehydrogenase/reductase retSDR3short chainscaffold attachment factor B1HSP27 ERE-TATA-binding proteinHSP27 estrogen response element-TATA box-binding proteinHsp27 ERE-TATA binding proteinglutathione S-transferase fusion proteinheat-shock protein (HSP27) estrogen response element and TATA box
Modification date2020032720200313
UniProtAcc

Q9BPX1

SLTM

Ensembl transtripts involved in fusion geneENST00000263278, ENST00000599157, 
ENST00000433404, ENST00000454510, 
ENST00000538656, ENST00000586934, 
ENST00000588852, ENST00000292123, 
ENST00000592224, 
Fusion gene scores* DoF score4 X 6 X 3=727 X 7 X 5=245
# samples 47
** MAII scorelog2(4/72*10)=-0.84799690655495
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(7/245*10)=-1.8073549220576
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: HSD17B14 [Title/Abstract] AND SAFB [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointHSD17B14(49337533)-SAFB(5661569), # samples:2
Anticipated loss of major functional domain due to fusion event.HSD17B14-SAFB seems lost the major protein functional domain in Tgene partner, which is a epigenetic factor due to the frame-shifted ORF.
HSD17B14-SAFB seems lost the major protein functional domain in Tgene partner, which is a essential gene due to the frame-shifted ORF.
HSD17B14-SAFB seems lost the major protein functional domain in Tgene partner, which is a transcription factor due to the frame-shifted ORF.
HSD17B14-SAFB seems lost the major protein functional domain in Tgene partner, which is a tumor suppressor due to the frame-shifted ORF.
* 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
HgeneHSD17B14

GO:0006706

steroid catabolic process

17067289


check buttonFusion gene breakpoints across HSD17B14 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check buttonFusion gene breakpoints across SAFB (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check button Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0)
* 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.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChimerDB4OVTCGA-29-1783-01AHSD17B14chr19

49337533

-SAFBchr19

5661569

+


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Fusion Gene ORF analysis for HSD17B14-SAFB

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
5CDS-intronENST00000263278ENST00000433404HSD17B14chr19

49337533

-SAFBchr19

5661569

+
5CDS-intronENST00000263278ENST00000454510HSD17B14chr19

49337533

-SAFBchr19

5661569

+
5CDS-intronENST00000263278ENST00000538656HSD17B14chr19

49337533

-SAFBchr19

5661569

+
5CDS-intronENST00000263278ENST00000586934HSD17B14chr19

49337533

-SAFBchr19

5661569

+
5CDS-intronENST00000263278ENST00000588852HSD17B14chr19

49337533

-SAFBchr19

5661569

+
5CDS-intronENST00000599157ENST00000433404HSD17B14chr19

49337533

-SAFBchr19

5661569

+
5CDS-intronENST00000599157ENST00000454510HSD17B14chr19

49337533

-SAFBchr19

5661569

+
5CDS-intronENST00000599157ENST00000538656HSD17B14chr19

49337533

-SAFBchr19

5661569

+
5CDS-intronENST00000599157ENST00000586934HSD17B14chr19

49337533

-SAFBchr19

5661569

+
5CDS-intronENST00000599157ENST00000588852HSD17B14chr19

49337533

-SAFBchr19

5661569

+
Frame-shiftENST00000263278ENST00000292123HSD17B14chr19

49337533

-SAFBchr19

5661569

+
Frame-shiftENST00000263278ENST00000592224HSD17B14chr19

49337533

-SAFBchr19

5661569

+
Frame-shiftENST00000599157ENST00000292123HSD17B14chr19

49337533

-SAFBchr19

5661569

+
Frame-shiftENST00000599157ENST00000592224HSD17B14chr19

49337533

-SAFBchr19

5661569

+

check buttonORFfinder result based on the fusion transcript sequence of in-frame fusion genes.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)
BP loci
(transcript)
Predicted start
(transcript)
Predicted stop
(transcript)
Seq length
(amino acids)

check buttonDeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score

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Fusion Genomic Features for HSD17B14-SAFB


check buttonFusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints.
HgeneHchrHbpHstrandTgeneTchrTbpTstrand1-pp (fusion gene breakpoint)

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page.

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page.

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Fusion Protein Features for HSD17B14-SAFB


check button Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:49337533/:5661569)
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
- How to search
1. Put your fusion gene symbol.
2. Press the tab key until there will be shown the breakpoint information filled.
4. Go down and press 'Search' tab twice.
4. Go down to have the hyperlink of the search result.
5. Click the hyperlink.
6. See the FGviewer result for your fusion gene.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
HSD17B14

Q9BPX1

SAFB

SLTM

FUNCTION: Has NAD-dependent 17-beta-hydroxysteroid dehydrogenase activity. Converts oestradiol to oestrone. The physiological substrate is not known. Acts on oestradiol and 5-androstene-3-beta,17-beta-diol (in vitro). {ECO:0000269|PubMed:17067289}.1034

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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Fusion Gene Sequence for HSD17B14-SAFB


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones.

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Fusion Gene PPI Analysis for HSD17B14-SAFB


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


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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Related Drugs for HSD17B14-SAFB


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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Related Diseases for HSD17B14-SAFB


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource