FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact
Center for Computational Systems Medicine
leaf

Fusion Gene Summary

leaf

Fusion Gene ORF analysis

leaf

Fusion Genomic Features

leaf

Fusion Protein Features

leaf

Fusion Gene Sequence

leaf

Fusion Gene PPI analysis

leaf

Related Drugs

leaf

Related Diseases

Fusion gene:XIAP-RNF213 (FusionGDB2 ID:98920)

Fusion Gene Summary for XIAP-RNF213

check button Fusion gene summary
Fusion gene informationFusion gene name: XIAP-RNF213
Fusion gene ID: 98920
HgeneTgene
Gene symbol

XIAP

RNF213

Gene ID

331

57674

Gene nameX-linked inhibitor of apoptosisring finger protein 213
SynonymsAPI3|BIRC4|IAP-3|ILP1|MIHA|XLP2|hIAP-3|hIAP3ALO17|C17orf27|KIAA1618|MYMY2|MYSTR|NET57
Cytomap

Xq25

17q25.3

Type of geneprotein-codingprotein-coding
DescriptionE3 ubiquitin-protein ligase XIAPIAP-like proteinIAP-like protein 1RING-type E3 ubiquitin transferase XIAPX-linked IAPX-linked inhibitor of apoptosis, E3 ubiquitin protein ligasebaculoviral IAP repeat-containing protein 4inhibitor of apoptosis proteE3 ubiquitin-protein ligase RNF213ALK lymphoma oligomerization partner on chromosome 17RING-type E3 ubiquitin transferase RNF213mysterin
Modification date2020032720200313
UniProtAcc.

Q63HN8

Ensembl transtripts involved in fusion geneENST00000434753, ENST00000468691, 
ENST00000371199, ENST00000355640, 
ENST00000508628, ENST00000456466, 
ENST00000582970, ENST00000319921, 
ENST00000336301, ENST00000427003, 
Fusion gene scores* DoF score9 X 7 X 6=37817 X 18 X 7=2142
# samples 920
** MAII scorelog2(9/378*10)=-2.0703893278914
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(20/2142*10)=-3.42088657497553
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: XIAP [Title/Abstract] AND RNF213 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointXIAP(122994143)-RNF213(78290987), # 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
HgeneXIAP

GO:0031398

positive regulation of protein ubiquitination

21931591

HgeneXIAP

GO:0043154

negative regulation of cysteine-type endopeptidase activity involved in apoptotic process

11583623

HgeneXIAP

GO:1902530

positive regulation of protein linear polyubiquitination

21931591

TgeneRNF213

GO:0016567

protein ubiquitination

21799892

TgeneRNF213

GO:0051260

protein homooligomerization

24658080|26126547

TgeneRNF213

GO:0051865

protein autoubiquitination

21799892


check buttonFusion gene breakpoints across XIAP (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 RNF213 (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
ChimerDB4Non-Cancer61NXIAPchrX

122994143

+RNF213chr17

78290987

+


Top

Fusion Gene ORF analysis for XIAP-RNF213

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-3CDSENST00000434753ENST00000508628XIAPchrX

122994143

+RNF213chr17

78290987

+
intron-3CDSENST00000434753ENST00000456466XIAPchrX

122994143

+RNF213chr17

78290987

+
intron-3CDSENST00000434753ENST00000582970XIAPchrX

122994143

+RNF213chr17

78290987

+
intron-3CDSENST00000434753ENST00000319921XIAPchrX

122994143

+RNF213chr17

78290987

+
intron-intronENST00000434753ENST00000336301XIAPchrX

122994143

+RNF213chr17

78290987

+
intron-intronENST00000434753ENST00000427003XIAPchrX

122994143

+RNF213chr17

78290987

+
3UTR-3CDSENST00000468691ENST00000508628XIAPchrX

122994143

+RNF213chr17

78290987

+
3UTR-3CDSENST00000468691ENST00000456466XIAPchrX

122994143

+RNF213chr17

78290987

+
3UTR-3CDSENST00000468691ENST00000582970XIAPchrX

122994143

+RNF213chr17

78290987

+
3UTR-3CDSENST00000468691ENST00000319921XIAPchrX

122994143

+RNF213chr17

78290987

+
3UTR-intronENST00000468691ENST00000336301XIAPchrX

122994143

+RNF213chr17

78290987

+
3UTR-intronENST00000468691ENST00000427003XIAPchrX

122994143

+RNF213chr17

78290987

+
5UTR-3CDSENST00000371199ENST00000508628XIAPchrX

122994143

+RNF213chr17

78290987

+
5UTR-3CDSENST00000371199ENST00000456466XIAPchrX

122994143

+RNF213chr17

78290987

+
5UTR-3CDSENST00000371199ENST00000582970XIAPchrX

122994143

+RNF213chr17

78290987

+
5UTR-3CDSENST00000371199ENST00000319921XIAPchrX

122994143

+RNF213chr17

78290987

+
5UTR-intronENST00000371199ENST00000336301XIAPchrX

122994143

+RNF213chr17

78290987

+
5UTR-intronENST00000371199ENST00000427003XIAPchrX

122994143

+RNF213chr17

78290987

+
5UTR-3CDSENST00000355640ENST00000508628XIAPchrX

122994143

+RNF213chr17

78290987

+
5UTR-3CDSENST00000355640ENST00000456466XIAPchrX

122994143

+RNF213chr17

78290987

+
5UTR-3CDSENST00000355640ENST00000582970XIAPchrX

122994143

+RNF213chr17

78290987

+
5UTR-3CDSENST00000355640ENST00000319921XIAPchrX

122994143

+RNF213chr17

78290987

+
5UTR-intronENST00000355640ENST00000336301XIAPchrX

122994143

+RNF213chr17

78290987

+
5UTR-intronENST00000355640ENST00000427003XIAPchrX

122994143

+RNF213chr17

78290987

+

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

Top

Fusion Genomic Features for XIAP-RNF213


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)
XIAPchrX122994143+RNF213chr1778290987+0.106644310.89335567
XIAPchrX122994143+RNF213chr1778290987+0.106644310.89335567

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.

Top

Fusion Protein Features for XIAP-RNF213


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
.RNF213

Q63HN8

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: Atypical E3 ubiquitin ligase that can catalyze ubiquitination of both proteins and lipids, and which is involved in various processes, such as lipid metabolism, angiogenesis and cell-autonomous immunity (PubMed:21799892, PubMed:26126547, PubMed:26278786, PubMed:26766444, PubMed:30705059, PubMed:32139119, PubMed:34012115). Acts as a key immune sensor by catalyzing ubiquitination of the lipid A moiety of bacterial lipopolysaccharide (LPS) via its RZ-type zinc-finger: restricts the proliferation of cytosolic bacteria, such as Salmonella, by generating the bacterial ubiquitin coat through the ubiquitination of LPS (PubMed:34012115). Also acts indirectly by mediating the recruitment of the LUBAC complex, which conjugates linear polyubiquitin chains (PubMed:34012115). Ubiquitination of LPS triggers cell-autonomous immunity, such as antibacterial autophagy, leading to degradation of the microbial invader (PubMed:34012115). Involved in lipid metabolism by regulating fat storage and lipid droplet formation; act by inhibiting the lipolytic process (PubMed:30705059). Also regulates lipotoxicity by inhibiting desaturation of fatty acids (PubMed:30846318). Also acts as an E3 ubiquitin-protein ligase via its RING-type zinc finger: mediates 'Lys-63'-linked ubiquitination of target proteins (PubMed:32139119, PubMed:33842849). Involved in the non-canonical Wnt signaling pathway in vascular development: acts by mediating ubiquitination and degradation of FLNA and NFATC2 downstream of RSPO3, leading to inhibit the non-canonical Wnt signaling pathway and promoting vessel regression (PubMed:26766444). Also has ATPase activity; ATPase activity is required for ubiquitination of LPS (PubMed:34012115). {ECO:0000269|PubMed:21799892, ECO:0000269|PubMed:26126547, ECO:0000269|PubMed:26278786, ECO:0000269|PubMed:26766444, ECO:0000269|PubMed:30705059, ECO:0000269|PubMed:30846318, ECO:0000269|PubMed:32139119, ECO:0000269|PubMed:33842849, ECO:0000269|PubMed:34012115}.

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


Top

Fusion Gene Sequence for XIAP-RNF213


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.

Top

Fusion Gene PPI Analysis for XIAP-RNF213


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


Top

Related Drugs for XIAP-RNF213


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

Top

Related Diseases for XIAP-RNF213


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneXIAPC1845076Lymphoproliferative Syndrome, X-Linked, 22CTD_human;GENOMICS_ENGLAND
HgeneXIAPC0014859Esophageal Neoplasms1CTD_human
HgeneXIAPC0021390Inflammatory Bowel Diseases1GENOMICS_ENGLAND
HgeneXIAPC0024291Lymphohistiocytosis, Hemophagocytic1GENOMICS_ENGLAND
HgeneXIAPC0024668Mammary Neoplasms, Experimental1CTD_human
HgeneXIAPC0027055Myocardial Reperfusion Injury1CTD_human
HgeneXIAPC0038002Splenomegaly1GENOMICS_ENGLAND
HgeneXIAPC0546837Malignant neoplasm of esophagus1CTD_human
HgeneXIAPC0919267ovarian neoplasm1CTD_human
HgeneXIAPC1140680Malignant neoplasm of ovary1CTD_human
HgeneXIAPC1862939AMYOTROPHIC LATERAL SCLEROSIS 11CTD_human
HgeneXIAPC1862941Amyotrophic Lateral Sclerosis, Sporadic1CTD_human
HgeneXIAPC4551993Amyotrophic Lateral Sclerosis, Familial1CTD_human
TgeneRNF213C1846689MOYAMOYA DISEASE 29CTD_human;UNIPROT
TgeneRNF213C0026654Moyamoya Disease3ORPHANET
TgeneRNF213C2931384Moyamoya disease 13ORPHANET