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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:HECTD1-DHRS4 (FusionGDB2 ID:36008)

Fusion Gene Summary for HECTD1-DHRS4

check button Fusion gene summary
Fusion gene informationFusion gene name: HECTD1-DHRS4
Fusion gene ID: 36008
HgeneTgene
Gene symbol

HECTD1

DHRS4

Gene ID

25831

10901

Gene nameHECT domain E3 ubiquitin protein ligase 1dehydrogenase/reductase 4
SynonymsEULIRCR|NRDR|PHCR|PSCD|SCAD-SRL|SDR-SRL|SDR25C1|SDR25C2
Cytomap

14q12

14q11.2

Type of geneprotein-codingprotein-coding
DescriptionE3 ubiquitin-protein ligase HECTD1E3 ligase for inhibin receptorHECT domain containing E3 ubiquitin protein ligase 1HECT domain-containing protein 1HECT-type E3 ubiquitin transferase HECTD1dehydrogenase/reductase SDR family member 4NADPH-dependent carbonyl reductase/NADP-retinol dehydrogenaseNADPH-dependent retinol dehydrogenase/reductasedehydrogenase/reductase (SDR family) member 4 like 2Aperoxisomal short-chain alcohol dehydrogenases
Modification date2020032220200313
UniProtAcc

Q9ULT8

Q6PKH6

Ensembl transtripts involved in fusion geneENST00000399332, ENST00000553700, 
ENST00000556474, 		ENST00000308178, 
ENST00000313250, ENST00000382761, 
ENST00000397073, ENST00000397074, 
ENST00000397075, ENST00000421831, 
ENST00000543741, ENST00000558263, 
ENST00000558581, ENST00000559632, 
Fusion gene scores* DoF score15 X 17 X 8=20404 X 4 X 4=64
# samples 205
** MAII scorelog2(20/2040*10)=-3.35049724708413
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(5/64*10)=-0.356143810225275
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: HECTD1 [Title/Abstract] AND DHRS4 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointHECTD1(31614012)-DHRS4(24424243), # samples:1
Anticipated loss of major functional domain due to fusion event.HECTD1-DHRS4 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
HECTD1-DHRS4 seems lost the major protein functional domain in Tgene partner, which is a cell metabolism gene 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
TgeneDHRS4

GO:0006066

alcohol metabolic process

18571493

TgeneDHRS4

GO:0008202

steroid metabolic process

18571493

TgeneDHRS4

GO:0042180

cellular ketone metabolic process

18571493

TgeneDHRS4

GO:0055114

oxidation-reduction process

19442656


check buttonFusion gene breakpoints across HECTD1 (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 DHRS4 (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
ChimerDB4KICHTCGA-KL-8339HECTD1chr14

31614012

-DHRS4chr14

24424243

+


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Fusion Gene ORF analysis for HECTD1-DHRS4

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-shiftENST00000399332ENST00000308178HECTD1chr14

31614012

-DHRS4chr14

24424243

+
Frame-shiftENST00000399332ENST00000313250HECTD1chr14

31614012

-DHRS4chr14

24424243

+
Frame-shiftENST00000399332ENST00000382761HECTD1chr14

31614012

-DHRS4chr14

24424243

+
Frame-shiftENST00000399332ENST00000397073HECTD1chr14

31614012

-DHRS4chr14

24424243

+
Frame-shiftENST00000399332ENST00000397074HECTD1chr14

31614012

-DHRS4chr14

24424243

+
Frame-shiftENST00000399332ENST00000397075HECTD1chr14

31614012

-DHRS4chr14

24424243

+
Frame-shiftENST00000399332ENST00000421831HECTD1chr14

31614012

-DHRS4chr14

24424243

+
Frame-shiftENST00000399332ENST00000543741HECTD1chr14

31614012

-DHRS4chr14

24424243

+
Frame-shiftENST00000399332ENST00000558263HECTD1chr14

31614012

-DHRS4chr14

24424243

+
Frame-shiftENST00000399332ENST00000558581HECTD1chr14

31614012

-DHRS4chr14

24424243

+
Frame-shiftENST00000399332ENST00000559632HECTD1chr14

31614012

-DHRS4chr14

24424243

+
Frame-shiftENST00000553700ENST00000308178HECTD1chr14

31614012

-DHRS4chr14

24424243

+
Frame-shiftENST00000553700ENST00000313250HECTD1chr14

31614012

-DHRS4chr14

24424243

+
Frame-shiftENST00000553700ENST00000382761HECTD1chr14

31614012

-DHRS4chr14

24424243

+
Frame-shiftENST00000553700ENST00000397073HECTD1chr14

31614012

-DHRS4chr14

24424243

+
Frame-shiftENST00000553700ENST00000397074HECTD1chr14

31614012

-DHRS4chr14

24424243

+
Frame-shiftENST00000553700ENST00000397075HECTD1chr14

31614012

-DHRS4chr14

24424243

+
Frame-shiftENST00000553700ENST00000421831HECTD1chr14

31614012

-DHRS4chr14

24424243

+
Frame-shiftENST00000553700ENST00000543741HECTD1chr14

31614012

-DHRS4chr14

24424243

+
Frame-shiftENST00000553700ENST00000558263HECTD1chr14

31614012

-DHRS4chr14

24424243

+
Frame-shiftENST00000553700ENST00000558581HECTD1chr14

31614012

-DHRS4chr14

24424243

+
Frame-shiftENST00000553700ENST00000559632HECTD1chr14

31614012

-DHRS4chr14

24424243

+
intron-3CDSENST00000556474ENST00000308178HECTD1chr14

31614012

-DHRS4chr14

24424243

+
intron-3CDSENST00000556474ENST00000313250HECTD1chr14

31614012

-DHRS4chr14

24424243

+
intron-3CDSENST00000556474ENST00000382761HECTD1chr14

31614012

-DHRS4chr14

24424243

+
intron-3CDSENST00000556474ENST00000397073HECTD1chr14

31614012

-DHRS4chr14

24424243

+
intron-3CDSENST00000556474ENST00000397074HECTD1chr14

31614012

-DHRS4chr14

24424243

+
intron-3CDSENST00000556474ENST00000397075HECTD1chr14

31614012

-DHRS4chr14

24424243

+
intron-3CDSENST00000556474ENST00000421831HECTD1chr14

31614012

-DHRS4chr14

24424243

+
intron-3CDSENST00000556474ENST00000543741HECTD1chr14

31614012

-DHRS4chr14

24424243

+
intron-3CDSENST00000556474ENST00000558263HECTD1chr14

31614012

-DHRS4chr14

24424243

+
intron-3CDSENST00000556474ENST00000558581HECTD1chr14

31614012

-DHRS4chr14

24424243

+
intron-3CDSENST00000556474ENST00000559632HECTD1chr14

31614012

-DHRS4chr14

24424243

+

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 HECTD1-DHRS4


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)
HECTD1chr1431614012-DHRS4chr1424424243+1.01E-081
HECTD1chr1431614012-DHRS4chr1424424243+1.01E-081

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.
genomic feature of top 1%

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Fusion Protein Features for HECTD1-DHRS4


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/:31614012/:24424243)
- 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
HECTD1

Q9ULT8

DHRS4

Q6PKH6

FUNCTION: E3 ubiquitin-protein ligase which accepts ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfers the ubiquitin to targeted substrates. Mediates 'Lys-63'-linked polyubiquitination of HSP90AA1 which leads to its intracellular localization and reduced secretion. Negatively regulating HSP90AA1 secretion in cranial mesenchyme cells may impair their emigration and may be essential for the correct development of the cranial neural folds and neural tube closure. {ECO:0000250|UniProtKB:Q69ZR2}.FUNCTION: Probable oxidoreductase. {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 HECTD1-DHRS4


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 HECTD1-DHRS4


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 HECTD1-DHRS4


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 HECTD1-DHRS4


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