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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:ARHGDIA-RNF213 (FusionGDB2 ID:6266)

Fusion Gene Summary for ARHGDIA-RNF213

check button Fusion gene summary
Fusion gene informationFusion gene name: ARHGDIA-RNF213
Fusion gene ID: 6266
HgeneTgene
Gene symbol

ARHGDIA

RNF213

Gene ID

396

57674

Gene nameRho GDP dissociation inhibitor alpharing finger protein 213
SynonymsGDIA1|HEL-S-47e|NPHS8|RHOGDI|RHOGDI-1ALO17|C17orf27|KIAA1618|MYMY2|MYSTR|NET57
Cytomap

17q25.3

17q25.3

Type of geneprotein-codingprotein-coding
Descriptionrho GDP-dissociation inhibitor 1GDP-dissociation inhibitor, aplysia RAS-related 1Rho GDP dissociation inhibitor (GDI) alphaepididymis secretory sperm binding protein Li 47eE3 ubiquitin-protein ligase RNF213ALK lymphoma oligomerization partner on chromosome 17RING-type E3 ubiquitin transferase RNF213mysterin
Modification date2020032720200313
UniProtAcc

P52565

Q63HN8

Ensembl transtripts involved in fusion geneENST00000582520, ENST00000269321, 
ENST00000400721, ENST00000584461, 
ENST00000541078, ENST00000580685, 
ENST00000581876, 		ENST00000508628, 
ENST00000456466, ENST00000582970, 
ENST00000319921, ENST00000336301, 
ENST00000427003, 
Fusion gene scores* DoF score7 X 4 X 4=11217 X 18 X 7=2142
# samples 720
** MAII scorelog2(7/112*10)=-0.678071905112638
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: ARHGDIA [Title/Abstract] AND RNF213 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointARHGDIA(79825598)-RNF213(78261614), # samples:1
Anticipated loss of major functional domain due to fusion event.ARHGDIA-RNF213 seems lost the major protein functional domain in Tgene partner, which is a CGC 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
TgeneRNF213

GO:0016567

protein ubiquitination

21799892

TgeneRNF213

GO:0051260

protein homooligomerization

24658080|26126547

TgeneRNF213

GO:0051865

protein autoubiquitination

21799892


check buttonFusion gene breakpoints across ARHGDIA (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
ChimerDB4LUADTCGA-55-6983-01AARHGDIAchr17

79825598

-RNF213chr17

78261614

+


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Fusion Gene ORF analysis for ARHGDIA-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
Frame-shiftENST00000582520ENST00000508628ARHGDIAchr17

79825598

-RNF213chr17

78261614

+
Frame-shiftENST00000582520ENST00000456466ARHGDIAchr17

79825598

-RNF213chr17

78261614

+
Frame-shiftENST00000582520ENST00000582970ARHGDIAchr17

79825598

-RNF213chr17

78261614

+
Frame-shiftENST00000582520ENST00000319921ARHGDIAchr17

79825598

-RNF213chr17

78261614

+
5CDS-intronENST00000582520ENST00000336301ARHGDIAchr17

79825598

-RNF213chr17

78261614

+
5CDS-intronENST00000582520ENST00000427003ARHGDIAchr17

79825598

-RNF213chr17

78261614

+
Frame-shiftENST00000269321ENST00000508628ARHGDIAchr17

79825598

-RNF213chr17

78261614

+
Frame-shiftENST00000269321ENST00000456466ARHGDIAchr17

79825598

-RNF213chr17

78261614

+
Frame-shiftENST00000269321ENST00000582970ARHGDIAchr17

79825598

-RNF213chr17

78261614

+
Frame-shiftENST00000269321ENST00000319921ARHGDIAchr17

79825598

-RNF213chr17

78261614

+
5CDS-intronENST00000269321ENST00000336301ARHGDIAchr17

79825598

-RNF213chr17

78261614

+
5CDS-intronENST00000269321ENST00000427003ARHGDIAchr17

79825598

-RNF213chr17

78261614

+
intron-3CDSENST00000400721ENST00000508628ARHGDIAchr17

79825598

-RNF213chr17

78261614

+
intron-3CDSENST00000400721ENST00000456466ARHGDIAchr17

79825598

-RNF213chr17

78261614

+
intron-3CDSENST00000400721ENST00000582970ARHGDIAchr17

79825598

-RNF213chr17

78261614

+
intron-3CDSENST00000400721ENST00000319921ARHGDIAchr17

79825598

-RNF213chr17

78261614

+
intron-intronENST00000400721ENST00000336301ARHGDIAchr17

79825598

-RNF213chr17

78261614

+
intron-intronENST00000400721ENST00000427003ARHGDIAchr17

79825598

-RNF213chr17

78261614

+
intron-3CDSENST00000584461ENST00000508628ARHGDIAchr17

79825598

-RNF213chr17

78261614

+
intron-3CDSENST00000584461ENST00000456466ARHGDIAchr17

79825598

-RNF213chr17

78261614

+
intron-3CDSENST00000584461ENST00000582970ARHGDIAchr17

79825598

-RNF213chr17

78261614

+
intron-3CDSENST00000584461ENST00000319921ARHGDIAchr17

79825598

-RNF213chr17

78261614

+
intron-intronENST00000584461ENST00000336301ARHGDIAchr17

79825598

-RNF213chr17

78261614

+
intron-intronENST00000584461ENST00000427003ARHGDIAchr17

79825598

-RNF213chr17

78261614

+
intron-3CDSENST00000541078ENST00000508628ARHGDIAchr17

79825598

-RNF213chr17

78261614

+
intron-3CDSENST00000541078ENST00000456466ARHGDIAchr17

79825598

-RNF213chr17

78261614

+
intron-3CDSENST00000541078ENST00000582970ARHGDIAchr17

79825598

-RNF213chr17

78261614

+
intron-3CDSENST00000541078ENST00000319921ARHGDIAchr17

79825598

-RNF213chr17

78261614

+
intron-intronENST00000541078ENST00000336301ARHGDIAchr17

79825598

-RNF213chr17

78261614

+
intron-intronENST00000541078ENST00000427003ARHGDIAchr17

79825598

-RNF213chr17

78261614

+
intron-3CDSENST00000580685ENST00000508628ARHGDIAchr17

79825598

-RNF213chr17

78261614

+
intron-3CDSENST00000580685ENST00000456466ARHGDIAchr17

79825598

-RNF213chr17

78261614

+
intron-3CDSENST00000580685ENST00000582970ARHGDIAchr17

79825598

-RNF213chr17

78261614

+
intron-3CDSENST00000580685ENST00000319921ARHGDIAchr17

79825598

-RNF213chr17

78261614

+
intron-intronENST00000580685ENST00000336301ARHGDIAchr17

79825598

-RNF213chr17

78261614

+
intron-intronENST00000580685ENST00000427003ARHGDIAchr17

79825598

-RNF213chr17

78261614

+
intron-3CDSENST00000581876ENST00000508628ARHGDIAchr17

79825598

-RNF213chr17

78261614

+
intron-3CDSENST00000581876ENST00000456466ARHGDIAchr17

79825598

-RNF213chr17

78261614

+
intron-3CDSENST00000581876ENST00000582970ARHGDIAchr17

79825598

-RNF213chr17

78261614

+
intron-3CDSENST00000581876ENST00000319921ARHGDIAchr17

79825598

-RNF213chr17

78261614

+
intron-intronENST00000581876ENST00000336301ARHGDIAchr17

79825598

-RNF213chr17

78261614

+
intron-intronENST00000581876ENST00000427003ARHGDIAchr17

79825598

-RNF213chr17

78261614

+

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 ARHGDIA-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)
ARHGDIAchr1779825596-RNF213chr1778261613+0.0006133190.99938667
ARHGDIAchr1779825596-RNF213chr1778261613+0.0006133190.99938667

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 ARHGDIA-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
ARHGDIA

P52565

RNF213

Q63HN8

FUNCTION: Controls Rho proteins homeostasis. Regulates the GDP/GTP exchange reaction of the Rho proteins by inhibiting the dissociation of GDP from them, and the subsequent binding of GTP to them. Retains Rho proteins such as CDC42, RAC1 and RHOA in an inactive cytosolic pool, regulating their stability and protecting them from degradation. Actively involved in the recycling and distribution of activated Rho GTPases in the cell, mediates extraction from membranes of both inactive and activated molecules due its exceptionally high affinity for prenylated forms. Through the modulation of Rho proteins, may play a role in cell motility regulation. In glioma cells, inhibits cell migration and invasion by mediating the signals of SEMA5A and PLXNB3 that lead to inactivation of RAC1. {ECO:0000269|PubMed:20400958, ECO:0000269|PubMed:23434736}.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


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Fusion Gene Sequence for ARHGDIA-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.

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Fusion Gene PPI Analysis for ARHGDIA-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


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Related Drugs for ARHGDIA-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

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Related Diseases for ARHGDIA-RNF213


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneARHGDIAC0006142Malignant neoplasm of breast1CTD_human
HgeneARHGDIAC0019693HIV Infections1CTD_human
HgeneARHGDIAC0022548Keloid1CTD_human
HgeneARHGDIAC0027627Neoplasm Metastasis1CTD_human
HgeneARHGDIAC0678222Breast Carcinoma1CTD_human
HgeneARHGDIAC1257931Mammary Neoplasms, Human1CTD_human
HgeneARHGDIAC1458155Mammary Neoplasms1CTD_human
HgeneARHGDIAC1868672NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE1ORPHANET
HgeneARHGDIAC3808874ADVANCED SLEEP PHASE SYNDROME, FAMILIAL, 21GENOMICS_ENGLAND
HgeneARHGDIAC4505456HIV Coinfection1CTD_human
HgeneARHGDIAC4704874Mammary Carcinoma, Human1CTD_human
TgeneRNF213C1846689MOYAMOYA DISEASE 29CTD_human;UNIPROT
TgeneRNF213C0026654Moyamoya Disease3ORPHANET
TgeneRNF213C2931384Moyamoya disease 13ORPHANET