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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:HPX-R3HDM1 (FusionGDB2 ID:37408)

Fusion Gene Summary for HPX-R3HDM1

check button Fusion gene summary
Fusion gene informationFusion gene name: HPX-R3HDM1
Fusion gene ID: 37408
HgeneTgene
Gene symbol

HPX

R3HDM1

Gene ID

3263

23518

Gene namehemopexinR3H domain containing 1
SynonymsHXR3HDM
Cytomap

11p15.4

2q21.3

Type of geneprotein-codingprotein-coding
Descriptionhemopexinbeta-1B-glycoproteinepididymis secretory sperm binding proteinR3H domain-containing protein 1R3H domain (binds single-stranded nucleic acids) containing
Modification date2020031320200320
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000265983, ENST00000525057, 
ENST00000409478, ENST00000329971, 
ENST00000264160, ENST00000410054, 
ENST00000409606, ENST00000443537, 
Fusion gene scores* DoF score3 X 3 X 2=1810 X 12 X 10=1200
# samples 316
** MAII scorelog2(3/18*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(16/1200*10)=-2.90689059560852
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: HPX [Title/Abstract] AND R3HDM1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointHPX(6452330)-R3HDM1(136403065), # samples:1
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

check buttonFusion gene breakpoints across HPX (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 R3HDM1 (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
ChiTaRS5.0N/AH95581HPXchr11

6452330

+R3HDM1chr2

136403065

-


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Fusion Gene ORF analysis for HPX-R3HDM1

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
intron-3CDSENST00000265983ENST00000409478HPXchr11

6452330

+R3HDM1chr2

136403065

-
intron-3CDSENST00000265983ENST00000329971HPXchr11

6452330

+R3HDM1chr2

136403065

-
intron-3CDSENST00000265983ENST00000264160HPXchr11

6452330

+R3HDM1chr2

136403065

-
intron-3CDSENST00000265983ENST00000410054HPXchr11

6452330

+R3HDM1chr2

136403065

-
intron-3CDSENST00000265983ENST00000409606HPXchr11

6452330

+R3HDM1chr2

136403065

-
intron-3UTRENST00000265983ENST00000443537HPXchr11

6452330

+R3HDM1chr2

136403065

-
intron-3CDSENST00000525057ENST00000409478HPXchr11

6452330

+R3HDM1chr2

136403065

-
intron-3CDSENST00000525057ENST00000329971HPXchr11

6452330

+R3HDM1chr2

136403065

-
intron-3CDSENST00000525057ENST00000264160HPXchr11

6452330

+R3HDM1chr2

136403065

-
intron-3CDSENST00000525057ENST00000410054HPXchr11

6452330

+R3HDM1chr2

136403065

-
intron-3CDSENST00000525057ENST00000409606HPXchr11

6452330

+R3HDM1chr2

136403065

-
intron-3UTRENST00000525057ENST00000443537HPXchr11

6452330

+R3HDM1chr2

136403065

-

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 HPX-R3HDM1


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 HPX-R3HDM1


check button Go to

FGviewer for the breakpoints of :-:

.
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
..
FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.

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 HPX-R3HDM1


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 HPX-R3HDM1


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 HPX-R3HDM1


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 HPX-R3HDM1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneHPXC0004364Autoimmune Diseases1CTD_human
HgeneHPXC0009492Compartment syndromes1CTD_human
HgeneHPXC0011860Diabetes Mellitus, Non-Insulin-Dependent1CTD_human
HgeneHPXC0013221Drug toxicity1CTD_human
HgeneHPXC0019193Hepatitis, Toxic1CTD_human
HgeneHPXC0022660Kidney Failure, Acute1CTD_human
HgeneHPXC0041755Adverse reaction to drug1CTD_human
HgeneHPXC0860207Drug-Induced Liver Disease1CTD_human
HgeneHPXC1262760Hepatitis, Drug-Induced1CTD_human
HgeneHPXC1565662Acute Kidney Insufficiency1CTD_human
HgeneHPXC2609414Acute kidney injury1CTD_human
HgeneHPXC3658290Drug-Induced Acute Liver Injury1CTD_human
HgeneHPXC4277682Chemical and Drug Induced Liver Injury1CTD_human
HgeneHPXC4279912Chemically-Induced Liver Toxicity1CTD_human