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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:HSPG2-IRF8 (FusionGDB2 ID:37862)

Fusion Gene Summary for HSPG2-IRF8

check button Fusion gene summary
Fusion gene informationFusion gene name: HSPG2-IRF8
Fusion gene ID: 37862
HgeneTgene
Gene symbol

HSPG2

IRF8

Gene ID

3339

3394

Gene nameheparan sulfate proteoglycan 2interferon regulatory factor 8
SynonymsHSPG|PLC|PRCAN|SJA|SJS|SJS1H-ICSBP|ICSBP|ICSBP1|IMD32A|IMD32B|IRF-8
Cytomap

1p36.12

16q24.1

Type of geneprotein-codingprotein-coding
Descriptionbasement membrane-specific heparan sulfate proteoglycan core proteinendorepellin (domain V region)perlecan proteoglycaninterferon regulatory factor 8interferon consensus sequence binding protein 1
Modification date2020031320200313
UniProtAcc.

Q02556

Ensembl transtripts involved in fusion geneENST00000486901, ENST00000374695, 
ENST00000430507, 		ENST00000268638, 
ENST00000563180, ENST00000562492, 
Fusion gene scores* DoF score22 X 23 X 12=60724 X 3 X 4=48
# samples 254
** MAII scorelog2(25/6072*10)=-4.60217179075338
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(4/48*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: HSPG2 [Title/Abstract] AND IRF8 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointHSPG2(22263648)-IRF8(85942596), # samples:1
Anticipated loss of major functional domain due to fusion event.HSPG2-IRF8 seems lost the major protein functional domain in Hgene partner, which is a cell metabolism gene due to the frame-shifted ORF.
HSPG2-IRF8 seems lost the major protein functional domain in Tgene partner, which is a transcription factor due to the frame-shifted ORF.
HSPG2-IRF8 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
TgeneIRF8

GO:0000122

negative regulation of transcription by RNA polymerase II

1460054|25122610

TgeneIRF8

GO:0045944

positive regulation of transcription by RNA polymerase II

25122610

TgeneIRF8

GO:0071346

cellular response to interferon-gamma

25122610


check buttonFusion gene breakpoints across HSPG2 (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 IRF8 (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
ChimerDB4STADTCGA-CD-5799-01AHSPG2chr1

22263648

-IRF8chr16

85942596

+


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Fusion Gene ORF analysis for HSPG2-IRF8

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-3CDSENST00000486901ENST00000268638HSPG2chr1

22263648

-IRF8chr16

85942596

+
intron-3CDSENST00000486901ENST00000563180HSPG2chr1

22263648

-IRF8chr16

85942596

+
intron-intronENST00000486901ENST00000562492HSPG2chr1

22263648

-IRF8chr16

85942596

+
In-frameENST00000374695ENST00000268638HSPG2chr1

22263648

-IRF8chr16

85942596

+
Frame-shiftENST00000374695ENST00000563180HSPG2chr1

22263648

-IRF8chr16

85942596

+
5CDS-intronENST00000374695ENST00000562492HSPG2chr1

22263648

-IRF8chr16

85942596

+
intron-3CDSENST00000430507ENST00000268638HSPG2chr1

22263648

-IRF8chr16

85942596

+
intron-3CDSENST00000430507ENST00000563180HSPG2chr1

22263648

-IRF8chr16

85942596

+
intron-intronENST00000430507ENST00000562492HSPG2chr1

22263648

-IRF8chr16

85942596

+

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)
ENST00000374695HSPG2chr122263648-ENST00000268638IRF8chr1685942596+2577143171249410

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
ENST00000374695ENST00000268638HSPG2chr122263648-IRF8chr1685942596+0.0006142780.9993857

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Fusion Genomic Features for HSPG2-IRF8


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)
HSPG2chr122263647-IRF8chr1685942595+1.12E-091
HSPG2chr122263647-IRF8chr1685942595+1.12E-091

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 HSPG2-IRF8


check button Go to

FGviewer for the breakpoints of chr1:22263648-chr16:85942596

.
- 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
.IRF8

Q02556

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: Transcription factor that specifically binds to the upstream regulatory region of type I interferon (IFN) and IFN-inducible MHC class I genes (the interferon consensus sequence (ICS)) (PubMed:25122610). Can both act as a transcriptional activator or repressor (By similarity). Plays a negative regulatory role in cells of the immune system (By similarity). Involved in CD8(+) dendritic cell differentiation by forming a complex with the BATF-JUNB heterodimer in immune cells, leading to recognition of AICE sequence (5'-TGAnTCA/GAAA-3'), an immune-specific regulatory element, followed by cooperative binding of BATF and IRF8 and activation of genes (By similarity). Required for the development of plasmacytoid dendritic cells (pDCs), which produce most of the type I IFN in response to viral infection (By similarity). Positively regulates macroautophagy in dendritic cells (PubMed:29434592). {ECO:0000250|UniProtKB:P23611, ECO:0000269|PubMed:25122610, ECO:0000269|PubMed:29434592}.

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
HgeneHSPG2chr1:22263648chr16:85942596ENST00000374695-1971126_115821.04392.0DomainLaminin EGF-like 5%3B second part
HgeneHSPG2chr1:22263648chr16:85942596ENST00000374695-1971159_120821.04392.0DomainLaminin EGF-like 6
HgeneHSPG2chr1:22263648chr16:85942596ENST00000374695-1971209_126521.04392.0DomainLaminin EGF-like 7
HgeneHSPG2chr1:22263648chr16:85942596ENST00000374695-1971275_132421.04392.0DomainLaminin EGF-like 8
HgeneHSPG2chr1:22263648chr16:85942596ENST00000374695-1971325_133421.04392.0DomainLaminin EGF-like 9%3B first part
HgeneHSPG2chr1:22263648chr16:85942596ENST00000374695-1971344_152921.04392.0DomainLaminin IV type A 3
HgeneHSPG2chr1:22263648chr16:85942596ENST00000374695-1971530_156221.04392.0DomainLaminin EGF-like 9%3B second part
HgeneHSPG2chr1:22263648chr16:85942596ENST00000374695-1971563_161221.04392.0DomainLaminin EGF-like 10
HgeneHSPG2chr1:22263648chr16:85942596ENST00000374695-1971613_167021.04392.0DomainLaminin EGF-like 11
HgeneHSPG2chr1:22263648chr16:85942596ENST00000374695-1971677_177121.04392.0DomainNote=Ig-like C2-type 2
HgeneHSPG2chr1:22263648chr16:85942596ENST00000374695-1971772_186521.04392.0DomainNote=Ig-like C2-type 3
HgeneHSPG2chr1:22263648chr16:85942596ENST00000374695-1971866_195521.04392.0DomainNote=Ig-like C2-type 4
HgeneHSPG2chr1:22263648chr16:85942596ENST00000374695-1971956_205121.04392.0DomainNote=Ig-like C2-type 5
HgeneHSPG2chr1:22263648chr16:85942596ENST00000374695-197198_23521.04392.0DomainLDL-receptor class A 1
HgeneHSPG2chr1:22263648chr16:85942596ENST00000374695-1972052_215121.04392.0DomainNote=Ig-like C2-type 6
HgeneHSPG2chr1:22263648chr16:85942596ENST00000374695-1972152_224421.04392.0DomainNote=Ig-like C2-type 7
HgeneHSPG2chr1:22263648chr16:85942596ENST00000374695-1972245_234021.04392.0DomainNote=Ig-like C2-type 8
HgeneHSPG2chr1:22263648chr16:85942596ENST00000374695-1972341_243621.04392.0DomainNote=Ig-like C2-type 9
HgeneHSPG2chr1:22263648chr16:85942596ENST00000374695-1972437_253321.04392.0DomainNote=Ig-like C2-type 10
HgeneHSPG2chr1:22263648chr16:85942596ENST00000374695-1972534_262921.04392.0DomainNote=Ig-like C2-type 11
HgeneHSPG2chr1:22263648chr16:85942596ENST00000374695-1972630_272621.04392.0DomainNote=Ig-like C2-type 12
HgeneHSPG2chr1:22263648chr16:85942596ENST00000374695-1972727_282621.04392.0DomainNote=Ig-like C2-type 13
HgeneHSPG2chr1:22263648chr16:85942596ENST00000374695-1972827_292421.04392.0DomainNote=Ig-like C2-type 14
HgeneHSPG2chr1:22263648chr16:85942596ENST00000374695-197284_32021.04392.0DomainLDL-receptor class A 2
HgeneHSPG2chr1:22263648chr16:85942596ENST00000374695-1972925_302121.04392.0DomainNote=Ig-like C2-type 15
HgeneHSPG2chr1:22263648chr16:85942596ENST00000374695-1973022_311221.04392.0DomainNote=Ig-like C2-type 16
HgeneHSPG2chr1:22263648chr16:85942596ENST00000374695-1973113_321121.04392.0DomainNote=Ig-like C2-type 17
HgeneHSPG2chr1:22263648chr16:85942596ENST00000374695-1973212_329821.04392.0DomainNote=Ig-like C2-type 18
HgeneHSPG2chr1:22263648chr16:85942596ENST00000374695-197324_36021.04392.0DomainLDL-receptor class A 3
HgeneHSPG2chr1:22263648chr16:85942596ENST00000374695-1973299_339921.04392.0DomainNote=Ig-like C2-type 19
HgeneHSPG2chr1:22263648chr16:85942596ENST00000374695-1973400_348821.04392.0DomainNote=Ig-like C2-type 20
HgeneHSPG2chr1:22263648chr16:85942596ENST00000374695-1973489_357421.04392.0DomainNote=Ig-like C2-type 21
HgeneHSPG2chr1:22263648chr16:85942596ENST00000374695-1973575_366221.04392.0DomainNote=Ig-like C2-type 22
HgeneHSPG2chr1:22263648chr16:85942596ENST00000374695-1973663_384321.04392.0DomainLaminin G-like 1
HgeneHSPG2chr1:22263648chr16:85942596ENST00000374695-197367_40421.04392.0DomainLDL-receptor class A 4
HgeneHSPG2chr1:22263648chr16:85942596ENST00000374695-1973844_388121.04392.0DomainEGF-like 1
HgeneHSPG2chr1:22263648chr16:85942596ENST00000374695-1973884_392221.04392.0DomainEGF-like 2
HgeneHSPG2chr1:22263648chr16:85942596ENST00000374695-1973928_410321.04392.0DomainLaminin G-like 2
HgeneHSPG2chr1:22263648chr16:85942596ENST00000374695-197405_50421.04392.0DomainNote=Ig-like C2-type 1
HgeneHSPG2chr1:22263648chr16:85942596ENST00000374695-1974104_414121.04392.0DomainEGF-like 3
HgeneHSPG2chr1:22263648chr16:85942596ENST00000374695-1974143_417621.04392.0DomainEGF-like 4
HgeneHSPG2chr1:22263648chr16:85942596ENST00000374695-1974201_438921.04392.0DomainLaminin G-like 3
HgeneHSPG2chr1:22263648chr16:85942596ENST00000374695-197521_53021.04392.0DomainLaminin EGF-like 1%3B first part
HgeneHSPG2chr1:22263648chr16:85942596ENST00000374695-197538_73021.04392.0DomainLaminin IV type A 1
HgeneHSPG2chr1:22263648chr16:85942596ENST00000374695-197731_76321.04392.0DomainLaminin EGF-like 1%3B second part
HgeneHSPG2chr1:22263648chr16:85942596ENST00000374695-197764_81321.04392.0DomainLaminin EGF-like 2
HgeneHSPG2chr1:22263648chr16:85942596ENST00000374695-19780_19121.04392.0DomainSEA
HgeneHSPG2chr1:22263648chr16:85942596ENST00000374695-197814_87121.04392.0DomainLaminin EGF-like 3
HgeneHSPG2chr1:22263648chr16:85942596ENST00000374695-197879_92321.04392.0DomainLaminin EGF-like 4%3B truncated
HgeneHSPG2chr1:22263648chr16:85942596ENST00000374695-197924_93321.04392.0DomainLaminin EGF-like 5%3B first part
HgeneHSPG2chr1:22263648chr16:85942596ENST00000374695-197941_112521.04392.0DomainLaminin IV type A 2
HgeneHSPG2chr1:22263648chr16:85942596ENST00000374695-1974149_415121.04392.0RegionMediates motor neuron attachment
HgeneHSPG2chr1:22263648chr16:85942596ENST00000374695-1974299_430121.04392.0RegionMediates motor neuron attachment
TgeneIRF8chr1:22263648chr16:85942596ENST00000268638197_11458.0427.0DNA bindingIRF tryptophan pentad repeat


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Fusion Gene Sequence for HSPG2-IRF8


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.
>In-frame_ENST00000374695_ENST00000268638_TCGA-CD-5799-01A_HSPG2_chr1_22263648_-_IRF8_chr16_85942596_length(transcript)=2577nt_BP=143nt
GGCCGGCGAGCGGGCGGCTGCGGGCGGCGCGGAGCGGGCGGCGCGGAGCGAGCGAGCGAGAGAGCGGCGCGGGCCGGGCCATGGGGTGGC
GGGCGGCGGGCGCGCTGCTGCTGGCGCTGCTGCTGCACGGGCGGCTGCTGGCGGCCTGGGCAGTTTTTAAAGGGAAGTTTAAAGAAGGGG
ACAAAGCTGAACCAGCCACTTGGAAGACGAGGTTACGCTGTGCTTTGAATAAGAGCCCAGATTTTGAGGAAGTGACGGACCGGTCCCAAC
TGGACATTTCCGAGCCATACAAAGTTTACCGAATTGTTCCTGAGGAAGAGCAAAAATGCAAACTAGGCGTGGCAACTGCTGGCTGCGTGA
ATGAAGTTACAGAGATGGAGTGCGGTCGCTCTGAAATCGACGAGCTGATCAAGGAGCCTTCTGTGGACGATTACATGGGGATGATCAAAA
GGAGCCCTTCCCCGCCGGAGGCCTGTCGGAGTCAGCTCCTTCCAGACTGGTGGGCGCAGCAGCCCAGCACAGGCGTGCCGCTGGTGACGG
GGTACACCACCTACGACGCGCACCATTCAGCATTCTCCCAGATGGTGATCAGCTTCTACTATGGGGGCAAGCTGGTGGGCCAGGCCACCA
CCACCTGCCCCGAGGGCTGCCGCCTGTCCCTGAGCCAGCCTGGGCTGCCCGGCACCAAGCTGTATGGGCCCGAGGGCCTGGAGCTGGTGC
GCTTCCCGCCGGCCGACGCCATCCCCAGCGAGCGACAGAGGCAGGTGACGCGGAAGCTGTTCGGGCACCTGGAGCGCGGGGTGCTGCTGC
ACAGCAGCCGGCAGGGCGTGTTCGTCAAGCGGCTGTGCCAGGGCCGCGTGTTCTGCAGCGGCAACGCCGTGGTGTGCAAAGGCAGGCCCA
ACAAGCTGGAGCGTGATGAGGTGGTCCAGGTCTTCGACACCAGCCAGTTCTTCCGAGAGCTGCAGCAGTTCTATAACAGCCAGGGCCGGC
TTCCTGACGGCAGGGTGGTGCTGTGCTTTGGGGAAGAGTTTCCGGATATGGCCCCCTTGCGCTCCAAACTCATTCTCGTGCAGATTGAGC
AGCTGTATGTCCGGCAACTGGCAGAAGAGGCTGGGAAGAGCTGTGGAGCCGGCTCTGTGATGCAGGCCCCCGAGGAGCCGCCGCCAGACC
AGGTCTTCCGGATGTTTCCAGATATTTGTGCCTCACACCAGAGATCATTTTTCAGAGAAAACCAACAGATCACCGTCTAAGTGCGTCGCT
TGGGCGCCCCACCCCGTCTGCGTCCTGCATCCATCTCCCTGTTACAGTGGCCCGCATCATGATTAAAGAATGTGGATCCCTCTGTCTGGG
GTGGGATGCCTTACTTTGCACTTAATTTAATAAGGGCATTCTCGGAGGAGTAGACGTTTAATACGAAGTGGCGGCATAGCCCTGCCGAGA
TGTCGGTGATGGCCTGGATGCTGTAACCACAACCTGTGGCTAAAAATTTTATTTTCTATCCTTTACCCGTCATTATCATTAGTTGCTATG
ATTCTTTCTGCATTTTCGGTTAACTATCATTTCCAAAGACTTGTCATTCAGTAATATTAGCAGATAGCTGCTTCGATAAAGGAATTTGGA
GTTTAAAAATCAACTTGTGAAAACAAGGTTGTTTTTGTCTTTATCGTTTGTTAGAGTTATAGATTTATGATTTCATAGGCTTGATTCTAT
GTGAAATATCTTTTTACTTTTATGCATTTTAATAAGATTTAAAAATATTTAGATTAAAGCCCCCTTTAATGAGTACAAGAAAAACTCTTG
GCTTGTTAGAAGAAAGTATATTCTTTCTAGAATTTGGTGCAGGAATATGTGTTCATATCCAGGCAAACGGGTGTGTTTTTATCTTCAGAC
AATGAAACCTTCTCCTCTGGGGCTTTGTTGCCAGGAAGATTAGAACTAAATTTATTTTTTTCATTTCTGTCATGAAATCATTCCAGATAC
CTCTTTTCTTCTTTCCAAATGGTTTTCACATGTGTTTGAAATATTTGTACTTCGAATTGTCGGATTTTCCATGTCCTCCTTTCTCCTTTG
TGCCCAGCCTGAGTCAGCACCAATCCCGCATTCAGAACCTCCCAGTGAAAGGGCAGCCTTCATTTTGAGAAGGTGGAAGGTGTTAGGGTT
TGGGAGACAGCTCATCCAATCTCCCAAGTCTCATGGTGGATTTGTGACTGTGAGAGTTTCCGGTTTAAAATCTGAAAAGCCAGATATGCC
TGTTTCCTTTTCCCAGCACCATGCCTGTGGAGGGGACAGTCAGACCCAGAGGTCCTTTACGTGTGGATGGAGTTCACAGGCGAATAGAGG
AGAGGACCAGGGGACGTGGCTTGTCCCTTTTGTCCAACAAAGCATTATATTTTTAAGAATGGCAGACCTGTTTGCTGAAGTGTTCATAAG
ATAACAATAGGCTTGAATCTCCAATTCAAATGAATGTCAAAGCACATATCTTTAATATGCTGAATGAATATTTATTTTTGTATCCATTAA

>In-frame_ENST00000374695_ENST00000268638_TCGA-CD-5799-01A_HSPG2_chr1_22263648_-_IRF8_chr16_85942596_length(amino acids)=410AA_start in transcript=17_stop in transcript=1249
MRAARSGRRGASERESGAGRAMGWRAAGALLLALLLHGRLLAAWAVFKGKFKEGDKAEPATWKTRLRCALNKSPDFEEVTDRSQLDISEP
YKVYRIVPEEEQKCKLGVATAGCVNEVTEMECGRSEIDELIKEPSVDDYMGMIKRSPSPPEACRSQLLPDWWAQQPSTGVPLVTGYTTYD
AHHSAFSQMVISFYYGGKLVGQATTTCPEGCRLSLSQPGLPGTKLYGPEGLELVRFPPADAIPSERQRQVTRKLFGHLERGVLLHSSRQG
VFVKRLCQGRVFCSGNAVVCKGRPNKLERDEVVQVFDTSQFFRELQQFYNSQGRLPDGRVVLCFGEEFPDMAPLRSKLILVQIEQLYVRQ

--------------------------------------------------------------

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Fusion Gene PPI Analysis for HSPG2-IRF8


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 HSPG2-IRF8


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 HSPG2-IRF8


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneHSPG2C0036391Schwartz-Jampel Syndrome3CTD_human;GENOMICS_ENGLAND;ORPHANET
HgeneHSPG2C4551479Schwartz-Jampel Syndrome, Type 13CTD_human;GENOMICS_ENGLAND;UNIPROT
HgeneHSPG2C0013366Dyschondroplasias2CTD_human
HgeneHSPG2C0025237Melnick-Needles Syndrome2CTD_human
HgeneHSPG2C0026760Multiple Epiphyseal Dysplasia2CTD_human
HgeneHSPG2C0029422Osteochondrodysplasias2CTD_human
HgeneHSPG2C0038015Spondyloepiphyseal Dysplasia2CTD_human
HgeneHSPG2C0432272Van Buchem disease2CTD_human
HgeneHSPG2C3541456Spondyloepiphyseal Dysplasia Tarda, X-Linked2CTD_human
HgeneHSPG2C0004238Atrial Fibrillation1CTD_human
HgeneHSPG2C0235480Paroxysmal atrial fibrillation1CTD_human
HgeneHSPG2C0376634Craniofacial Abnormalities1CTD_human
HgeneHSPG2C1857100Dyssegmental dysplasia1CTD_human;GENOMICS_ENGLAND;ORPHANET
HgeneHSPG2C2585653Persistent atrial fibrillation1CTD_human
HgeneHSPG2C3468561familial atrial fibrillation1CTD_human
TgeneIRF8C4016741IMMUNODEFICIENCY 32B4CTD_human;GENOMICS_ENGLAND;UNIPROT
TgeneIRF8C3808589IMMUNODEFICIENCY 32A2CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneIRF8C0003873Rheumatoid Arthritis1CTD_human
TgeneIRF8C0023893Liver Cirrhosis, Experimental1CTD_human
TgeneIRF8C0026769Multiple Sclerosis1CTD_human
TgeneIRF8C0751324Multiple Sclerosis, Acute Fulminating1CTD_human