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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-PLEKHA4 (FusionGDB2 ID:37670)

Fusion Gene Summary for HSD17B14-PLEKHA4

check button Fusion gene summary
Fusion gene informationFusion gene name: HSD17B14-PLEKHA4
Fusion gene ID: 37670
HgeneTgene
Gene symbol

HSD17B14

PLEKHA4

Gene ID

51171

57664

Gene namehydroxysteroid 17-beta dehydrogenase 14pleckstrin homology domain containing A4
SynonymsDHRS10|SDR47C1|retSDR3PEPP1
Cytomap

19q13.33

19q13.33

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 chainpleckstrin homology domain-containing family A member 4PH domain-containing family A member 4phosphoinositol 3-phosphate-binding PH domain protein 1pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4
Modification date2020032720200313
UniProtAcc

Q9BPX1

.
Ensembl transtripts involved in fusion geneENST00000263278, ENST00000599157, 
ENST00000263265, ENST00000355496, 
ENST00000596713, 
Fusion gene scores* DoF score4 X 6 X 3=725 X 6 X 4=120
# samples 46
** MAII scorelog2(4/72*10)=-0.84799690655495
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(6/120*10)=-1
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: HSD17B14 [Title/Abstract] AND PLEKHA4 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointHSD17B14(49335923)-PLEKHA4(49344567), # samples:2
Anticipated loss of major functional domain due to fusion event.
* 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 PLEKHA4 (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
ChimerDB4ACCTCGA-OR-A5J7-01AHSD17B14chr19

49335922

-PLEKHA4chr19

49344566

-
ChimerDB4ACCTCGA-OR-A5J7-01AHSD17B14chr19

49335923

-PLEKHA4chr19

49341386

-
ChimerDB4ACCTCGA-OR-A5J7-01AHSD17B14chr19

49335923

-PLEKHA4chr19

49344567

-
ChimerDB4ACCTCGA-OR-A5J7-01AHSD17B14chr19

49337532

-PLEKHA4chr19

49344566

-
ChimerDB4ACCTCGA-OR-A5J7-01AHSD17B14chr19

49337533

-PLEKHA4chr19

49344567

-


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Fusion Gene ORF analysis for HSD17B14-PLEKHA4

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-intronENST00000263278ENST00000263265HSD17B14chr19

49335922

-PLEKHA4chr19

49344566

-
5CDS-intronENST00000263278ENST00000263265HSD17B14chr19

49335923

-PLEKHA4chr19

49344567

-
5CDS-intronENST00000263278ENST00000263265HSD17B14chr19

49337532

-PLEKHA4chr19

49344566

-
5CDS-intronENST00000263278ENST00000263265HSD17B14chr19

49337533

-PLEKHA4chr19

49344567

-
5CDS-intronENST00000263278ENST00000355496HSD17B14chr19

49335922

-PLEKHA4chr19

49344566

-
5CDS-intronENST00000263278ENST00000355496HSD17B14chr19

49335923

-PLEKHA4chr19

49344567

-
5CDS-intronENST00000263278ENST00000355496HSD17B14chr19

49337532

-PLEKHA4chr19

49344566

-
5CDS-intronENST00000263278ENST00000355496HSD17B14chr19

49337533

-PLEKHA4chr19

49344567

-
5CDS-intronENST00000263278ENST00000596713HSD17B14chr19

49335922

-PLEKHA4chr19

49344566

-
5CDS-intronENST00000263278ENST00000596713HSD17B14chr19

49335923

-PLEKHA4chr19

49341386

-
5CDS-intronENST00000263278ENST00000596713HSD17B14chr19

49335923

-PLEKHA4chr19

49344567

-
5CDS-intronENST00000263278ENST00000596713HSD17B14chr19

49337532

-PLEKHA4chr19

49344566

-
5CDS-intronENST00000263278ENST00000596713HSD17B14chr19

49337533

-PLEKHA4chr19

49344567

-
5CDS-intronENST00000599157ENST00000263265HSD17B14chr19

49335922

-PLEKHA4chr19

49344566

-
5CDS-intronENST00000599157ENST00000263265HSD17B14chr19

49335923

-PLEKHA4chr19

49344567

-
5CDS-intronENST00000599157ENST00000263265HSD17B14chr19

49337532

-PLEKHA4chr19

49344566

-
5CDS-intronENST00000599157ENST00000263265HSD17B14chr19

49337533

-PLEKHA4chr19

49344567

-
5CDS-intronENST00000599157ENST00000355496HSD17B14chr19

49335922

-PLEKHA4chr19

49344566

-
5CDS-intronENST00000599157ENST00000355496HSD17B14chr19

49335923

-PLEKHA4chr19

49344567

-
5CDS-intronENST00000599157ENST00000355496HSD17B14chr19

49337532

-PLEKHA4chr19

49344566

-
5CDS-intronENST00000599157ENST00000355496HSD17B14chr19

49337533

-PLEKHA4chr19

49344567

-
5CDS-intronENST00000599157ENST00000596713HSD17B14chr19

49335922

-PLEKHA4chr19

49344566

-
5CDS-intronENST00000599157ENST00000596713HSD17B14chr19

49335923

-PLEKHA4chr19

49341386

-
5CDS-intronENST00000599157ENST00000596713HSD17B14chr19

49335923

-PLEKHA4chr19

49344567

-
5CDS-intronENST00000599157ENST00000596713HSD17B14chr19

49337532

-PLEKHA4chr19

49344566

-
5CDS-intronENST00000599157ENST00000596713HSD17B14chr19

49337533

-PLEKHA4chr19

49344567

-
Frame-shiftENST00000263278ENST00000263265HSD17B14chr19

49335923

-PLEKHA4chr19

49341386

-
Frame-shiftENST00000263278ENST00000355496HSD17B14chr19

49335923

-PLEKHA4chr19

49341386

-
Frame-shiftENST00000599157ENST00000263265HSD17B14chr19

49335923

-PLEKHA4chr19

49341386

-
Frame-shiftENST00000599157ENST00000355496HSD17B14chr19

49335923

-PLEKHA4chr19

49341386

-

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-PLEKHA4


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-PLEKHA4


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/:49335923/:49344567)
- 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

.
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}.FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.

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-PLEKHA4


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-PLEKHA4


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-PLEKHA4


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-PLEKHA4


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