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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:IFNGR1-PEX7 (FusionGDB2 ID:38226)

Fusion Gene Summary for IFNGR1-PEX7

check button Fusion gene summary
Fusion gene informationFusion gene name: IFNGR1-PEX7
Fusion gene ID: 38226
HgeneTgene
Gene symbol

IFNGR1

PEX7

Gene ID

3459

5191

Gene nameinterferon gamma receptor 1peroxisomal biogenesis factor 7
SynonymsCD119|IFNGR|IMD27A|IMD27BPBD9B|PTS2R|RCDP1|RD
Cytomap

6q23.3

6q23.3

Type of geneprotein-codingprotein-coding
Descriptioninterferon gamma receptor 1AVP, type 2CD119 antigenCDw119IFN-gamma receptor 1IFN-gamma-R-alphaIFN-gamma-R1antiviral protein, type 2immune interferon receptor 1interferon-gamma receptor alpha chainperoxisomal biogenesis factor 7PTS2 receptorperoxin-7peroxisomal PTS2 receptorperoxisomal targeting signal 2 receptorperoxisome targeting signal 2 receptor
Modification date2020031320200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000367739, ENST00000543628, 
ENST00000367735, ENST00000478333, 
ENST00000541292, ENST00000318471, 
ENST00000367756, 
Fusion gene scores* DoF score4 X 3 X 5=606 X 5 X 6=180
# samples 57
** MAII scorelog2(5/60*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(7/180*10)=-1.36257007938471
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: IFNGR1 [Title/Abstract] AND PEX7 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointIFNGR1(137540379)-PEX7(137187764), # samples:1
IFNGR1(137540380)-PEX7(137219280), # samples:1
Anticipated loss of major functional domain due to fusion event.IFNGR1-PEX7 seems lost the major protein functional domain in Hgene partner, which is a IUPHAR drug target 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
TgenePEX7

GO:0016558

protein import into peroxisome matrix

9090381


check buttonFusion gene breakpoints across IFNGR1 (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 PEX7 (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
ChimerDB4LGGTCGA-HT-8018IFNGR1chr6

137540379

-PEX7chr6

137187764

+
ChimerDB4KIRCTCGA-B8-A54H-01AIFNGR1chr6

137540380

-PEX7chr6

137219280

+


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Fusion Gene ORF analysis for IFNGR1-PEX7

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-shiftENST00000367739ENST00000541292IFNGR1chr6

137540379

-PEX7chr6

137187764

+
Frame-shiftENST00000367739ENST00000318471IFNGR1chr6

137540379

-PEX7chr6

137187764

+
5CDS-intronENST00000367739ENST00000367756IFNGR1chr6

137540379

-PEX7chr6

137187764

+
intron-3CDSENST00000543628ENST00000541292IFNGR1chr6

137540379

-PEX7chr6

137187764

+
intron-3CDSENST00000543628ENST00000318471IFNGR1chr6

137540379

-PEX7chr6

137187764

+
intron-intronENST00000543628ENST00000367756IFNGR1chr6

137540379

-PEX7chr6

137187764

+
5UTR-3CDSENST00000367735ENST00000541292IFNGR1chr6

137540379

-PEX7chr6

137187764

+
5UTR-3CDSENST00000367735ENST00000318471IFNGR1chr6

137540379

-PEX7chr6

137187764

+
5UTR-intronENST00000367735ENST00000367756IFNGR1chr6

137540379

-PEX7chr6

137187764

+
5UTR-3CDSENST00000478333ENST00000541292IFNGR1chr6

137540379

-PEX7chr6

137187764

+
5UTR-3CDSENST00000478333ENST00000318471IFNGR1chr6

137540379

-PEX7chr6

137187764

+
5UTR-intronENST00000478333ENST00000367756IFNGR1chr6

137540379

-PEX7chr6

137187764

+
5CDS-3UTRENST00000367739ENST00000541292IFNGR1chr6

137540380

-PEX7chr6

137219280

+
5CDS-3UTRENST00000367739ENST00000318471IFNGR1chr6

137540380

-PEX7chr6

137219280

+
5CDS-intronENST00000367739ENST00000367756IFNGR1chr6

137540380

-PEX7chr6

137219280

+
intron-3UTRENST00000543628ENST00000541292IFNGR1chr6

137540380

-PEX7chr6

137219280

+
intron-3UTRENST00000543628ENST00000318471IFNGR1chr6

137540380

-PEX7chr6

137219280

+
intron-intronENST00000543628ENST00000367756IFNGR1chr6

137540380

-PEX7chr6

137219280

+
5UTR-3UTRENST00000367735ENST00000541292IFNGR1chr6

137540380

-PEX7chr6

137219280

+
5UTR-3UTRENST00000367735ENST00000318471IFNGR1chr6

137540380

-PEX7chr6

137219280

+
5UTR-intronENST00000367735ENST00000367756IFNGR1chr6

137540380

-PEX7chr6

137219280

+
5UTR-3UTRENST00000478333ENST00000541292IFNGR1chr6

137540380

-PEX7chr6

137219280

+
5UTR-3UTRENST00000478333ENST00000318471IFNGR1chr6

137540380

-PEX7chr6

137219280

+
5UTR-intronENST00000478333ENST00000367756IFNGR1chr6

137540380

-PEX7chr6

137219280

+

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 IFNGR1-PEX7


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)
IFNGR1chr6137540379-PEX7chr6137187764+0.000657070.99934286
IFNGR1chr6137540379-PEX7chr6137219279+0.0001220040.9998779
IFNGR1chr6137540379-PEX7chr6137187764+0.000657070.99934286
IFNGR1chr6137540379-PEX7chr6137219279+0.0001220040.9998779

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 IFNGR1-PEX7


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 IFNGR1-PEX7


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 IFNGR1-PEX7


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 IFNGR1-PEX7


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 IFNGR1-PEX7


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneIFNGR1C4011949IMMUNODEFICIENCY 27A14GENOMICS_ENGLAND;UNIPROT
HgeneIFNGR1C0014175Endometriosis1CTD_human
HgeneIFNGR1C0023893Liver Cirrhosis, Experimental1CTD_human
HgeneIFNGR1C0026918Mycobacterium Infections1GENOMICS_ENGLAND
HgeneIFNGR1C0151744Myocardial Ischemia1CTD_human
HgeneIFNGR1C0269102Endometrioma1CTD_human
HgeneIFNGR1C4014863IMMUNODEFICIENCY 27B1CTD_human;GENOMICS_ENGLAND;ORPHANET
TgenePEX7C1859133RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 18CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgenePEX7C2749346Refsum Disease, Adult, 23CTD_human;GENOMICS_ENGLAND;UNIPROT
TgenePEX7C0034960Refsum Disease2CTD_human;GENOMICS_ENGLAND
TgenePEX7C0282529Chondrodysplasia Punctata, Rhizomelic1CTD_human
TgenePEX7C1720802Refsum Disease, Phytanoyl-CoA Hydroxylase Deficiency1CTD_human