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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:RNF216-JAZF1

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: RNF216-JAZF1
FusionPDB ID: 75012
FusionGDB2.0 ID: 75012
HgeneTgene
Gene symbol

RNF216

JAZF1

Gene ID

54476

221895

Gene namering finger protein 216JAZF zinc finger 1
SynonymsCAHH|TRIAD3|U7I1|UBCE7IP1|ZINTIP27|ZNF802
Cytomap

7p22.1

7p15.2-p15.1

Type of geneprotein-codingprotein-coding
DescriptionE3 ubiquitin-protein ligase RNF216RING-type E3 ubiquitin transferase RNF216triad domain-containing protein 3ubiquitin-conjugating enzyme 7-interacting protein 1zinc finger protein inhibiting NF-kappa-Bjuxtaposed with another zinc finger protein 1TAK1-interacting protein 27juxtaposed with another zinc finger gene 1zinc finger protein 802
Modification date2020031320200313
UniProtAcc

Q9NWF9

Q86VZ6

Ensembl transtripts involved in fusion geneENST idsENST00000389902, ENST00000425013, 
ENST00000469375, 		ENST00000466516, 
ENST00000283928, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score12 X 13 X 9=14049 X 6 X 5=270
# samples 159
** MAII scorelog2(15/1404*10)=-3.22650852980868
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(9/270*10)=-1.58496250072116
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)

PubMed: RNF216 [Title/Abstract] AND JAZF1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)RNF216(5680785)-JAZF1(28031600), # samples:3
Anticipated loss of major functional domain due to fusion event.RNF216-JAZF1 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.
RNF216-JAZF1 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.
RNF216-JAZF1 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.
RNF216-JAZF1 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
HgeneRNF216

GO:0032648

regulation of interferon-beta production

19893624

HgeneRNF216

GO:0043161

proteasome-mediated ubiquitin-dependent protein catabolic process

19893624

HgeneRNF216

GO:0050691

regulation of defense response to virus by host

19893624

HgeneRNF216

GO:0070936

protein K48-linked ubiquitination

19893624

TgeneJAZF1

GO:0000122

negative regulation of transcription by RNA polymerase II

15302918


check buttonFusion gene breakpoints across RNF216 (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 JAZF1 (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
ChimerDB4LUADTCGA-69-7980-01ARNF216chr7

5680785

-JAZF1chr7

28031600

-


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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)
ENST00000425013RNF216chr75680785-ENST00000283928JAZF1chr728031600-528024362132456747
ENST00000389902RNF216chr75680785-ENST00000283928JAZF1chr728031600-549426502562670804

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
ENST00000425013ENST00000283928RNF216chr75680785-JAZF1chr728031600-0.0006400110.99936
ENST00000389902ENST00000283928RNF216chr75680785-JAZF1chr728031600-0.0006334610.9993666

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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

>75012_75012_1_RNF216-JAZF1_RNF216_chr7_5680785_ENST00000389902_JAZF1_chr7_28031600_ENST00000283928_length(amino acids)=804AA_BP=
MHLKMEEGNNNEEVIHLNNFHCHRGQEWINLRDGPITISDSSDEERIPMLVTPAPQQHEEEDLDDDVILTETNKPQRSRPNLIKPAAQWQ
DLKRLGEERPKKSRAAFESDKSSYFSVCNNPLFDSGAQDDSEDDYGEFLDLGPPGISEFTKPSGQTEREPKPGPSHNQAANDIVNPRSEQ
KVIILEEGSLLYTESDPLETQNQSSEDSETELLSNLGESAALADDQAIEEDCWLDHPYFQSLNQQPREITNQVVPQERQPEAELGRLLFQ
HEFPGPAFPRPEPQQGGISGPSSPQPAHPLGEFEDQQLASDDEEPGPAFPMQESQEPNLENIWGQEAAEVDQELVELLVKETEARFPDVA
NGFIEEIIHFKNYYDLNVLCNFLLENPDYPKREDRIIINPSSSLLASQDETKLPKIDFFDYSKLTPLDQRCFIQAADLLMADFKVLSSQD
IKWALHELKGHYAITRKALSDAIKKWQELSPETSGKRKKRKQMNQYSYIDFKFEQGDIKIEKRMFFLENKRRHCRSYDRRALLPAVQQEQ
EFYEQKIKEMAEHEDFLLALQMNEEQYQKDGQLIECRCCYGEFPFEELTQCADAHLFCKECLIRYAQEAVFGSGKLELSCMEGSCTCSFP
TSELEKVLPQTILYKYYERKAEEEVAAAYADELVRCPSCSFPALLDSDVKRFSCPNPHCRKETCRKCQGLWKEHNGLTCEELAEKDDIKY

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

>75012_75012_2_RNF216-JAZF1_RNF216_chr7_5680785_ENST00000425013_JAZF1_chr7_28031600_ENST00000283928_length(amino acids)=747AA_BP=
MHLKMEEGNNNEEVIHLNNFHCHRGQEWINLRDGPITISDSSDEERIPMLVTPAPQQHEEEDLDDDVILTEDDSEDDYGEFLDLGPPGIS
EFTKPSGQTEREPKPGPSHNQAANDIVNPRSEQKVIILEEGSLLYTESDPLETQNQSSEDSETELLSNLGESAALADDQAIEEDCWLDHP
YFQSLNQQPREITNQVVPQERQPEAELGRLLFQHEFPGPAFPRPEPQQGGISGPSSPQPAHPLGEFEDQQLASDDEEPGPAFPMQESQEP
NLENIWGQEAAEVDQELVELLVKETEARFPDVANGFIEEIIHFKNYYDLNVLCNFLLENPDYPKREDRIIINPSSSLLASQDETKLPKID
FFDYSKLTPLDQRCFIQAADLLMADFKVLSSQDIKWALHELKGHYAITRKALSDAIKKWQELSPETSGKRKKRKQMNQYSYIDFKFEQGD
IKIEKRMFFLENKRRHCRSYDRRALLPAVQQEQEFYEQKIKEMAEHEDFLLALQMNEEQYQKDGQLIECRCCYGEFPFEELTQCADAHLF
CKECLIRYAQEAVFGSGKLELSCMEGSCTCSFPTSELEKVLPQTILYKYYERKAEEEVAAAYADELVRCPSCSFPALLDSDVKRFSCPNP
HCRKETCRKCQGLWKEHNGLTCEELAEKDDIKYRTSIEEKMTAARIRKCHKCGTGLIKSEGCNRMSCRCGAQMCYLCRVSINGYDHFCQH

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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/chr7:5680785/chr7:28031600)
- 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
RNF216

Q9NWF9

JAZF1

Q86VZ6

FUNCTION: Isoform 1 acts as an E3 ubiquitin ligase, which accepts ubiquitin from specific E2 ubiquitin-conjugating enzymes, and then transfers it to substrates promoting their degradation by the proteasome. Promotes degradation of TRAF3, TLR4 and TLR9. Contributes to the regulation of antiviral responses. Down-regulates activation of NF-kappa-B, IRF3 activation and IFNB production. Isoform 3 inhibits TNF and IL-1 mediated activation of NF-kappa-B. Promotes TNF and RIP mediated apoptosis. {ECO:0000269|PubMed:15107846, ECO:0000269|PubMed:19893624}.FUNCTION: Acts as a transcriptional corepressor of orphan nuclear receptor NR2C2 (PubMed:15302918). Inhibits expression of the gluconeogenesis enzyme PCK2 through inhibition of NR2C2 activity (By similarity). Also involved in transcriptional activation of NAMPT by promoting expression of PPARA and PPARD (By similarity). Plays a role in lipid metabolism by suppressing lipogenesis, increasing lipolysis and decreasing lipid accumulation in adipose tissue (By similarity). Plays a role in glucose homeostasis by improving glucose metabolism and insulin sensitivity (By similarity). {ECO:0000250|UniProtKB:Q80ZQ5, ECO:0000269|PubMed:15302918}.

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
HgeneRNF216chr7:5680785chr7:28031600ENST00000389902-1517475_491794.0924.0Coiled coilOntology_term=ECO:0000255
HgeneRNF216chr7:5680785chr7:28031600ENST00000389902-1517737_763794.0924.0Coiled coilOntology_term=ECO:0000255
HgeneRNF216chr7:5680785chr7:28031600ENST00000425013-1517475_491737.0867.0Coiled coilOntology_term=ECO:0000255
HgeneRNF216chr7:5680785chr7:28031600ENST00000389902-1517511_728794.0924.0RegionTRIAD supradomain
HgeneRNF216chr7:5680785chr7:28031600ENST00000425013-1517511_728737.0867.0RegionTRIAD supradomain
HgeneRNF216chr7:5680785chr7:28031600ENST00000389902-1517515_564794.0924.0Zinc fingerRING-type 1
HgeneRNF216chr7:5680785chr7:28031600ENST00000389902-1517583_648794.0924.0Zinc fingerIBR-type
HgeneRNF216chr7:5680785chr7:28031600ENST00000389902-1517675_703794.0924.0Zinc fingerRING-type 2%3B atypical
HgeneRNF216chr7:5680785chr7:28031600ENST00000425013-1517515_564737.0867.0Zinc fingerRING-type 1
HgeneRNF216chr7:5680785chr7:28031600ENST00000425013-1517583_648737.0867.0Zinc fingerIBR-type
HgeneRNF216chr7:5680785chr7:28031600ENST00000425013-1517675_703737.0867.0Zinc fingerRING-type 2%3B atypical
TgeneJAZF1chr7:5680785chr7:28031600ENST0000028392805173_19838.333333333333336244.0Zinc fingerNote=C2H2-type 2
TgeneJAZF1chr7:5680785chr7:28031600ENST0000028392805208_23038.333333333333336244.0Zinc fingerNote=C2H2-type 3%3B degenerate

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneRNF216chr7:5680785chr7:28031600ENST00000425013-1517737_763737.0867.0Coiled coilOntology_term=ECO:0000255
HgeneRNF216chr7:5680785chr7:28031600ENST00000389902-1517769_862794.0924.0Compositional biasNote=Pro-rich
HgeneRNF216chr7:5680785chr7:28031600ENST00000425013-1517769_862737.0867.0Compositional biasNote=Pro-rich
TgeneJAZF1chr7:5680785chr7:28031600ENST000002839280512_3738.333333333333336244.0Zinc fingerNote=C2H2-type 1


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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
JAZF1NR2C2, PPARG, RXRA, YEATS4, TRRAP, Ruvbl1, MEAF6, RUVBL1, MYCL, HIST1H2BA, MORF4L2, HIST1H4A, FAM9B, BRD8, SUZ12, KAT5, EP400, DMAP1, EPC1, EPC2, MBTD1, MRGBP, DDX39A, NR2C1, METAP2, CLTCL1, H2AFZ, VPS72, ACAD11, ING3, ING5,


check button Protein-protein interactors based on sequence similarity (STRING)
GeneSTRING network
RNF216all structure
JAZF1all structure


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 RNF216-JAZF1


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 RNF216-JAZF1


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
HgeneRNF216C1859305Cerebellar Ataxia and Hypogonadotropic Hypogonadism2CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneJAZF1C0011860Diabetes Mellitus, Non-Insulin-Dependent1CTD_human
TgeneJAZF1C0014170Endometrial Neoplasms1CTD_human
TgeneJAZF1C0024141Lupus Erythematosus, Systemic1CTD_human;ORPHANET
TgeneJAZF1C0033578Prostatic Neoplasms1CTD_human
TgeneJAZF1C0206630Endometrial Stromal Sarcoma1ORPHANET
TgeneJAZF1C0242380Libman-Sacks Disease1CTD_human
TgeneJAZF1C0376358Malignant neoplasm of prostate1CTD_human
TgeneJAZF1C0476089Endometrial Carcinoma1CTD_human