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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 2488

FusionGeneSummary for ARHGDIA_RNF213

check button Fusion gene summary
Fusion gene informationFusion gene name: ARHGDIA_RNF213
Fusion gene ID: 2488
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 date2018052320180527
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 score5 X 2 X 5=5012 X 13 X 6=936
# samples 615
** MAII scorelog2(6/50*10)=0.263034405833794
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(15/936*10)=-2.64154602908752
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]

Functional or gene categories assigned by FusionGDB annotation
* 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 button Fusion gene information from three resources
(ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018))
* 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.
Data typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
TCGARVLUADTCGA-55-6983-01AARHGDIAchr17

79825598

-RNF213chr17

78261614

+
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

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-shitENST00000582520ENST00000508628ARHGDIAchr17

79825598

-RNF213chr17

78261614

+
Frame-shitENST00000582520ENST00000456466ARHGDIAchr17

79825598

-RNF213chr17

78261614

+
Frame-shitENST00000582520ENST00000582970ARHGDIAchr17

79825598

-RNF213chr17

78261614

+
Frame-shitENST00000582520ENST00000319921ARHGDIAchr17

79825598

-RNF213chr17

78261614

+
5CDS-intronENST00000582520ENST00000336301ARHGDIAchr17

79825598

-RNF213chr17

78261614

+
5CDS-intronENST00000582520ENST00000427003ARHGDIAchr17

79825598

-RNF213chr17

78261614

+
Frame-shitENST00000269321ENST00000508628ARHGDIAchr17

79825598

-RNF213chr17

78261614

+
Frame-shitENST00000269321ENST00000456466ARHGDIAchr17

79825598

-RNF213chr17

78261614

+
Frame-shitENST00000269321ENST00000582970ARHGDIAchr17

79825598

-RNF213chr17

78261614

+
Frame-shitENST00000269321ENST00000319921ARHGDIAchr17

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

+

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FusionProtFeatures for ARHGDIA_RNF213


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
ARHGDIA

P52565

RNF213

Q63HN8

Controls Rho proteins homeostasis. Regulates the GDP/GTPexchange reaction of the Rho proteins by inhibiting thedissociation of GDP from them, and the subsequent binding of GTPto them. Retains Rho proteins such as CDC42, RAC1 and RHOA in aninactive cytosolic pool, regulating their stability and protectingthem from degradation. Actively involved in the recycling anddistribution of activated Rho GTPases in the cell, mediatesextraction from membranes of both inactive and activated moleculesdue its exceptionally high affinity for prenylated forms. Throughthe modulation of Rho proteins, may play a role in cell motilityregulation. In glioma cells, inhibits cell migration and invasionby mediating the signals of SEMA5A and PLXNB3 that lead toinactivation of RAC1. {ECO:0000269|PubMed:20400958,ECO:0000269|PubMed:23434736}.

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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FusionGeneSequence for ARHGDIA_RNF213


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences.
(nt: nucleotides, aa: amino acids)

* Fusion amino acid sequences.

* Fusion transcript sequences (only coding sequence (CDS) region).

* Fusion transcript sequences (Full-length transcript).

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FusionGenePPI 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
ARHGDIARHOA, RAC1, RHOC, CDC42, EIF2B1, DHX9, IGF2BP1, HNRNPAB, EWSR1, HNRNPA3, BID, TNFRSF10B, EZR, FADD, FASLG, MAPK8, MSN, CASP10, CASP8, FAS, TNFRSF1A, ACTL6A, CDKN1B, NEDD4L, SH3GL3, JUP, FEN1, RDX, RHOH, ARHGDIA, RAC2, RHOG, RAC3, BAK1, UBE2R2, CBX5, SDHC, MAPK6, TRIM13, UBE2L6, UFM1, HERPUD1, HAAO, TWF2, XIAP, ESR1, SIRT7, TERF1, TINF2, POT1, CUL3, CDK2, PSMD10, ATXN3, PIR, CASP3, CASP7, ADRB2, IKBKG, CUL7, CCDC8, ALDOA, AHNAK, ALDOC, ASS1, COMMD4, COTL1, DUT, ENO2, HSD17B10, HSPB1, IMPA1, IMPA2, ISYNA1, PCNA, PLS3, RAB11A, RAP1A, TXN, UCHL3, FAM98B, GDI1, HINT1, NPEPL1, PDIA3, PFKM, PFKP, SUMO3, SUMO4, NTRK1, U2AF2, STOM, ANKRD13A, PRRC2B, EIF2B4, FBXW7, UBE2I, EP300, KAT2B, SIRT2, HDAC6RNF213UBC, CBX2, CBX4, CBX6, EGFR, PLAC9, RNF213, TRIM23, GOLGA2, REL, TRIM27, TRIP6, UBXN11, KRT40, CD244, SCN2B, IFI16, PTPN1, MRPL50, RNASEH2B, GAN, MCM2, ATOH1, DLK2, SIGLECL1, SDC2, LAMP3, CYLD


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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RelatedDrugs for ARHGDIA_RNF213


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for ARHGDIA_RNF213


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneARHGDIAC0019693HIV Infections1CTD_human
HgeneARHGDIAC0022548Keloid1CTD_human
HgeneARHGDIAC0027627Neoplasm Metastasis1CTD_human
HgeneARHGDIAC1458155Mammary Neoplasms1CTD_human
TgeneRNF213C1846689MOYAMOYA DISEASE 23UNIPROT