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Center for Computational Systems Medicine level1
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Fusion Gene Summary

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Fusion Gene Sample Information

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Fusion ORF Analysis

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Fusion Amino Acid Sequences

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Fusion Protein Functional Features

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Fusion Protein-Protein Interaction

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Related drugs with this fusion protein

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Related disease with this fusion protein

Fusion Protein:REL-KIAA1841

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: REL-KIAA1841
FusionPDB ID: 73439
FusionGDB2.0 ID: 73439
HgeneTgene
Gene symbol

REL

KIAA1841

Gene ID

5966

84542

Gene nameREL proto-oncogene, NF-kB subunitKIAA1841
SynonymsC-Rel-
Cytomap

2p16.1

2p15

Type of geneprotein-codingprotein-coding
Descriptionproto-oncogene c-Reloncogene REL, avian reticuloendotheliosisv-rel avian reticuloendotheliosis viral oncogene homologuncharacterized protein KIAA1841
Modification date2020032720200313
UniProtAcc

RELL2

Q6NSI8

Ensembl transtripts involved in fusion geneENST idsENST00000295025, ENST00000394479, 
ENST00000482513, ENST00000295031, 
ENST00000356719, ENST00000402291, 
ENST00000453873, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score5 X 6 X 4=1208 X 7 X 6=336
# samples 79
** MAII scorelog2(7/120*10)=-0.777607578663552
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(9/336*10)=-1.90046432644909
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)

PubMed: REL [Title/Abstract] AND KIAA1841 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)REL(61145741)-KIAA1841(61343114), # samples:2
Anticipated loss of major functional domain due to fusion event.REL-KIAA1841 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
REL-KIAA1841 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame 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
HgeneREL

GO:0010629

negative regulation of gene expression

22065573

HgeneREL

GO:0032688

negative regulation of interferon-beta production

22065573

HgeneREL

GO:0045944

positive regulation of transcription by RNA polymerase II

1406630


check buttonFusion gene breakpoints across REL (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

check buttonFusion gene breakpoints across KIAA1841 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure


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Fusion Gene Sample Information

check buttonFusion gene information from FusionGDB2.0.
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
ChimerDB4COADTCGA-D5-6932-01ARELchr2

61145741

+KIAA1841chr2

61343114

+


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Fusion ORF Analysis


check buttonFusion information from ORFfinder translation from full-length transcript sequence from FusionPDB.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)
BP loci
(transcript)
Predicted start
(transcript)
Predicted stop
(transcript)
Seq length
(amino acids)
ENST00000295025RELchr261145741+ENST00000402291KIAA1841chr261343114+370411732541585443
ENST00000295025RELchr261145741+ENST00000356719KIAA1841chr261343114+158611732541585444
ENST00000295025RELchr261145741+ENST00000295031KIAA1841chr261343114+216811732541552432
ENST00000295025RELchr261145741+ENST00000453873KIAA1841chr261343114+369811732541585443
ENST00000394479RELchr261145741+ENST00000402291KIAA1841chr261343114+356910381191450443
ENST00000394479RELchr261145741+ENST00000356719KIAA1841chr261343114+145110381191450444
ENST00000394479RELchr261145741+ENST00000295031KIAA1841chr261343114+203310381191417432
ENST00000394479RELchr261145741+ENST00000453873KIAA1841chr261343114+356310381191450443

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
ENST00000295025ENST00000402291RELchr261145741+KIAA1841chr261343114+0.0001564970.9998435
ENST00000295025ENST00000356719RELchr261145741+KIAA1841chr261343114+0.0018706410.9981294
ENST00000295025ENST00000295031RELchr261145741+KIAA1841chr261343114+0.0004596350.99954045
ENST00000295025ENST00000453873RELchr261145741+KIAA1841chr261343114+0.0001558210.9998442
ENST00000394479ENST00000402291RELchr261145741+KIAA1841chr261343114+0.0001431810.9998568
ENST00000394479ENST00000356719RELchr261145741+KIAA1841chr261343114+0.0018113990.99818856
ENST00000394479ENST00000295031RELchr261145741+KIAA1841chr261343114+0.0004169970.99958307
ENST00000394479ENST00000453873RELchr261145741+KIAA1841chr261343114+0.000142620.9998573

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Fusion Amino Acid Sequences


check button For individual full-length fusion transcript sequence from FusionPDB, we ran ORFfinder and chose the longest ORF among the all predicted ones.
>FusionGDB ID_FusionGDB isoform ID_FGname_Hgene_Hchr_Hbp_Henst_Tgene_Tchr_Tbp_Tenst_length(fusion AA) seq_BP

>73439_73439_1_REL-KIAA1841_REL_chr2_61145741_ENST00000295025_KIAA1841_chr2_61343114_ENST00000295031_length(amino acids)=432AA_BP=1
MTAAASGQDAGSCLREGAGSGAMASGAYNPYIEIIEQPRQRGMRFRYKCEGRSAGSIPGEHSTDNNRTYPSIQIMNYYGKGKVRITLVTK
NDPYKPHPHDLVGKDCRDGYYEAEFGQERRPLFFQNLGIRCVKKKEVKEAIITRIKAGINPFNVPEKQLNDIEDCDLNVVRLCFQVFLPD
EHGNLTTALPPVVSNPIYDNRAPNTAELRICRVNKNCGSVRGGDEIFLLCDKVQKDDIEVRFVLNDWEAKGIFSQADVHRQVAIVFKTPP
YCKAITEPVTVKMQLRRPSDQEVSESMDFRYLPDEKGKKEKPKKFTRQPKKQVSSPCAQRKEKALEKSASRDVSPFVMSMQKNKWDATRS

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

>73439_73439_2_REL-KIAA1841_REL_chr2_61145741_ENST00000295025_KIAA1841_chr2_61343114_ENST00000356719_length(amino acids)=444AA_BP=1
MTAAASGQDAGSCLREGAGSGAMASGAYNPYIEIIEQPRQRGMRFRYKCEGRSAGSIPGEHSTDNNRTYPSIQIMNYYGKGKVRITLVTK
NDPYKPHPHDLVGKDCRDGYYEAEFGQERRPLFFQNLGIRCVKKKEVKEAIITRIKAGINPFNVPEKQLNDIEDCDLNVVRLCFQVFLPD
EHGNLTTALPPVVSNPIYDNRAPNTAELRICRVNKNCGSVRGGDEIFLLCDKVQKDDIEVRFVLNDWEAKGIFSQADVHRQVAIVFKTPP
YCKAITEPVTVKMQLRRPSDQEVSESMDFRYLPDEKGKKEKPKKFTRQPKKQVSSPCAQRKEKALEKSASRDVSPFVMSMQKNKWDATRS

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

>73439_73439_3_REL-KIAA1841_REL_chr2_61145741_ENST00000295025_KIAA1841_chr2_61343114_ENST00000402291_length(amino acids)=443AA_BP=1
MTAAASGQDAGSCLREGAGSGAMASGAYNPYIEIIEQPRQRGMRFRYKCEGRSAGSIPGEHSTDNNRTYPSIQIMNYYGKGKVRITLVTK
NDPYKPHPHDLVGKDCRDGYYEAEFGQERRPLFFQNLGIRCVKKKEVKEAIITRIKAGINPFNVPEKQLNDIEDCDLNVVRLCFQVFLPD
EHGNLTTALPPVVSNPIYDNRAPNTAELRICRVNKNCGSVRGGDEIFLLCDKVQKDDIEVRFVLNDWEAKGIFSQADVHRQVAIVFKTPP
YCKAITEPVTVKMQLRRPSDQEVSESMDFRYLPDEKGKKEKPKKFTRQPKKQVSSPCAQRKEKALEKSASRDVSPFVMSMQKNKWDATRS

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

>73439_73439_4_REL-KIAA1841_REL_chr2_61145741_ENST00000295025_KIAA1841_chr2_61343114_ENST00000453873_length(amino acids)=443AA_BP=1
MTAAASGQDAGSCLREGAGSGAMASGAYNPYIEIIEQPRQRGMRFRYKCEGRSAGSIPGEHSTDNNRTYPSIQIMNYYGKGKVRITLVTK
NDPYKPHPHDLVGKDCRDGYYEAEFGQERRPLFFQNLGIRCVKKKEVKEAIITRIKAGINPFNVPEKQLNDIEDCDLNVVRLCFQVFLPD
EHGNLTTALPPVVSNPIYDNRAPNTAELRICRVNKNCGSVRGGDEIFLLCDKVQKDDIEVRFVLNDWEAKGIFSQADVHRQVAIVFKTPP
YCKAITEPVTVKMQLRRPSDQEVSESMDFRYLPDEKGKKEKPKKFTRQPKKQVSSPCAQRKEKALEKSASRDVSPFVMSMQKNKWDATRS

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

>73439_73439_5_REL-KIAA1841_REL_chr2_61145741_ENST00000394479_KIAA1841_chr2_61343114_ENST00000295031_length(amino acids)=432AA_BP=1
MTAAASGQDAGSCLREGAGSGAMASGAYNPYIEIIEQPRQRGMRFRYKCEGRSAGSIPGEHSTDNNRTYPSIQIMNYYGKGKVRITLVTK
NDPYKPHPHDLVGKDCRDGYYEAEFGQERRPLFFQNLGIRCVKKKEVKEAIITRIKAGINPFNVPEKQLNDIEDCDLNVVRLCFQVFLPD
EHGNLTTALPPVVSNPIYDNRAPNTAELRICRVNKNCGSVRGGDEIFLLCDKVQKDDIEVRFVLNDWEAKGIFSQADVHRQVAIVFKTPP
YCKAITEPVTVKMQLRRPSDQEVSESMDFRYLPDEKGKKEKPKKFTRQPKKQVSSPCAQRKEKALEKSASRDVSPFVMSMQKNKWDATRS

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

>73439_73439_6_REL-KIAA1841_REL_chr2_61145741_ENST00000394479_KIAA1841_chr2_61343114_ENST00000356719_length(amino acids)=444AA_BP=1
MTAAASGQDAGSCLREGAGSGAMASGAYNPYIEIIEQPRQRGMRFRYKCEGRSAGSIPGEHSTDNNRTYPSIQIMNYYGKGKVRITLVTK
NDPYKPHPHDLVGKDCRDGYYEAEFGQERRPLFFQNLGIRCVKKKEVKEAIITRIKAGINPFNVPEKQLNDIEDCDLNVVRLCFQVFLPD
EHGNLTTALPPVVSNPIYDNRAPNTAELRICRVNKNCGSVRGGDEIFLLCDKVQKDDIEVRFVLNDWEAKGIFSQADVHRQVAIVFKTPP
YCKAITEPVTVKMQLRRPSDQEVSESMDFRYLPDEKGKKEKPKKFTRQPKKQVSSPCAQRKEKALEKSASRDVSPFVMSMQKNKWDATRS

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

>73439_73439_7_REL-KIAA1841_REL_chr2_61145741_ENST00000394479_KIAA1841_chr2_61343114_ENST00000402291_length(amino acids)=443AA_BP=1
MTAAASGQDAGSCLREGAGSGAMASGAYNPYIEIIEQPRQRGMRFRYKCEGRSAGSIPGEHSTDNNRTYPSIQIMNYYGKGKVRITLVTK
NDPYKPHPHDLVGKDCRDGYYEAEFGQERRPLFFQNLGIRCVKKKEVKEAIITRIKAGINPFNVPEKQLNDIEDCDLNVVRLCFQVFLPD
EHGNLTTALPPVVSNPIYDNRAPNTAELRICRVNKNCGSVRGGDEIFLLCDKVQKDDIEVRFVLNDWEAKGIFSQADVHRQVAIVFKTPP
YCKAITEPVTVKMQLRRPSDQEVSESMDFRYLPDEKGKKEKPKKFTRQPKKQVSSPCAQRKEKALEKSASRDVSPFVMSMQKNKWDATRS

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

>73439_73439_8_REL-KIAA1841_REL_chr2_61145741_ENST00000394479_KIAA1841_chr2_61343114_ENST00000453873_length(amino acids)=443AA_BP=1
MTAAASGQDAGSCLREGAGSGAMASGAYNPYIEIIEQPRQRGMRFRYKCEGRSAGSIPGEHSTDNNRTYPSIQIMNYYGKGKVRITLVTK
NDPYKPHPHDLVGKDCRDGYYEAEFGQERRPLFFQNLGIRCVKKKEVKEAIITRIKAGINPFNVPEKQLNDIEDCDLNVVRLCFQVFLPD
EHGNLTTALPPVVSNPIYDNRAPNTAELRICRVNKNCGSVRGGDEIFLLCDKVQKDDIEVRFVLNDWEAKGIFSQADVHRQVAIVFKTPP
YCKAITEPVTVKMQLRRPSDQEVSESMDFRYLPDEKGKKEKPKKFTRQPKKQVSSPCAQRKEKALEKSASRDVSPFVMSMQKNKWDATRS

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

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Fusion Protein Functional Features


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/chr2:61145741/chr2:61343114)
- 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
REL

RELL2

KIAA1841

Q6NSI8

303

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.
- Retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneRELchr2:61145741chr2:61343114ENST00000295025+7118_297284.3333333333333620.0DomainRHD
HgeneRELchr2:61145741chr2:61343114ENST00000295025+711290_295284.3333333333333620.0MotifNuclear localization signal


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Fusion Protein-Protein Interaction


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 from validated records (BIOGRID-3.4.160)
GenePPI interactors


check button Protein-protein interactors based on sequence similarity (STRING)
GeneSTRING network
REL
KIAA1841


check button - Retained interactions in fusion protein (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost interactions due to fusion (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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Related Drugs to REL-KIAA1841


check button Drugs used for this fusion-positive patient.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDrugSourcePMID

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Related Diseases to REL-KIAA1841


check button Diseases that have this fusion gene.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDiseaseSourcePMID

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