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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: 2613

FusionGeneSummary for ARID1A_RNF31

check button Fusion gene summary
Fusion gene informationFusion gene name: ARID1A_RNF31
Fusion gene ID: 2613
HgeneTgene
Gene symbol

ARID1A

RNF31

Gene ID

8289

55072

Gene nameAT-rich interaction domain 1Aring finger protein 31
SynonymsB120|BAF250|BAF250a|BM029|C1orf4|CSS2|ELD|MRD14|OSA1|P270|SMARCF1|hELD|hOSA1HOIP|Paul|ZIBRA
Cytomap

1p36.11

14q12

Type of geneprotein-codingprotein-coding
DescriptionAT-rich interactive domain-containing protein 1AARID domain-containing protein 1AAT rich interactive domain 1A (SWI-like)BRG1-associated factor 250aOSA1 nuclear proteinSWI-like proteinSWI/SNF complex protein p270SWI/SNF-related, matrix-associated, E3 ubiquitin-protein ligase RNF31HOIL-1-interacting proteinRING-type E3 ubiquitin transferase RNF31zinc in-between-RING-finger ubiquitin-associated domain protein
Modification date2018051920180527
UniProtAcc

O14497

Q96EP0

Ensembl transtripts involved in fusion geneENST00000324856, ENST00000457599, 
ENST00000374152, ENST00000540690, 
ENST00000557878, ENST00000559275, 
ENST00000324103, ENST00000382687, 
Fusion gene scores* DoF score21 X 13 X 13=35495 X 5 X 4=100
# samples 316
** MAII scorelog2(31/3549*10)=-3.51707245378671
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(6/100*10)=-0.736965594166206
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ARID1A [Title/Abstract] AND RNF31 [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
HgeneARID1A

GO:0006337

nucleosome disassembly

8895581

HgeneARID1A

GO:0006338

chromatin remodeling

11726552

HgeneARID1A

GO:0030520

intracellular estrogen receptor signaling pathway

12200431

HgeneARID1A

GO:0030521

androgen receptor signaling pathway

12200431

HgeneARID1A

GO:0042921

glucocorticoid receptor signaling pathway

12200431

HgeneARID1A

GO:0045893

positive regulation of transcription, DNA-templated

12200431

TgeneRNF31

GO:0000209

protein polyubiquitination

12629548|17006537

TgeneRNF31

GO:0043123

positive regulation of I-kappaB kinase/NF-kappaB signaling

19136968|21455173

TgeneRNF31

GO:0050852

T cell receptor signaling pathway

20005846

TgeneRNF31

GO:0051092

positive regulation of NF-kappaB transcription factor activity

19136968

TgeneRNF31

GO:0097039

protein linear polyubiquitination

21455173|21455180|21455181|23453807


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
TCGARVGBMTCGA-06-0125-02AARID1Achr1

27094490

+RNF31chr14

24624366

+
TCGARVGBMTCGA-06-0125-01AARID1Achr1

27094490

+RNF31chr14

24624366

+
* 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
5CDS-intronENST00000324856ENST00000557878ARID1Achr1

27094490

+RNF31chr14

24624366

+
5CDS-intronENST00000324856ENST00000559275ARID1Achr1

27094490

+RNF31chr14

24624366

+
5CDS-intronENST00000324856ENST00000324103ARID1Achr1

27094490

+RNF31chr14

24624366

+
5CDS-intronENST00000324856ENST00000382687ARID1Achr1

27094490

+RNF31chr14

24624366

+
5CDS-intronENST00000457599ENST00000557878ARID1Achr1

27094490

+RNF31chr14

24624366

+
5CDS-intronENST00000457599ENST00000559275ARID1Achr1

27094490

+RNF31chr14

24624366

+
5CDS-intronENST00000457599ENST00000324103ARID1Achr1

27094490

+RNF31chr14

24624366

+
5CDS-intronENST00000457599ENST00000382687ARID1Achr1

27094490

+RNF31chr14

24624366

+
5CDS-intronENST00000374152ENST00000557878ARID1Achr1

27094490

+RNF31chr14

24624366

+
5CDS-intronENST00000374152ENST00000559275ARID1Achr1

27094490

+RNF31chr14

24624366

+
5CDS-intronENST00000374152ENST00000324103ARID1Achr1

27094490

+RNF31chr14

24624366

+
5CDS-intronENST00000374152ENST00000382687ARID1Achr1

27094490

+RNF31chr14

24624366

+
intron-intronENST00000540690ENST00000557878ARID1Achr1

27094490

+RNF31chr14

24624366

+
intron-intronENST00000540690ENST00000559275ARID1Achr1

27094490

+RNF31chr14

24624366

+
intron-intronENST00000540690ENST00000324103ARID1Achr1

27094490

+RNF31chr14

24624366

+
intron-intronENST00000540690ENST00000382687ARID1Achr1

27094490

+RNF31chr14

24624366

+

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FusionProtFeatures for ARID1A_RNF31


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
ARID1A

O14497

RNF31

Q96EP0

E3 ubiquitin-protein ligase component of the LUBACcomplex which conjugates linear ('Met-1'-linked) polyubiquitinchains to substrates and plays a key role in NF-kappa-B activationand regulation of inflammation (PubMed:17006537, PubMed:19136968,PubMed:20005846, PubMed:21455173, PubMed:21455180,PubMed:21455181, PubMed:22863777). LUBAC conjugates linearpolyubiquitin to IKBKG and RIPK1 and is involved in activation ofthe canonical NF-kappa-B and the JNK signaling pathways(PubMed:17006537, PubMed:19136968, PubMed:20005846,PubMed:21455173, PubMed:21455180, PubMed:21455181,PubMed:22863777). Linear ubiquitination mediated by the LUBACcomplex interferes with TNF-induced cell death and therebyprevents inflammation (PubMed:21455173). LUBAC is proposed to berecruited to the TNF-R1 signaling complex (TNF-RSC) followingpolyubiquitination of TNF-RSC components by BIRC2 and/or BIRC3 andto conjugate linear polyubiquitin to IKBKG and possibly othercomponents contributing to the stability of the complex(PubMed:20005846). Together with otulin, the LUBAC complexregulates the canonical Wnt signaling during angiogenesis. Bindspolyubiquitin of different linkage types (PubMed:23708998).{ECO:0000269|PubMed:17006537, ECO:0000269|PubMed:19136968,ECO:0000269|PubMed:20005846, ECO:0000269|PubMed:21455173,ECO:0000269|PubMed:21455180, ECO:0000269|PubMed:21455181,ECO:0000269|PubMed:22863777, ECO:0000269|PubMed:23708998}.

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 ARID1A_RNF31


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 ARID1A_RNF31


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
ARID1AKLF1, GATA1, SMARCB1, SMARCA4, SMARCA2, ING1, SMARCE1, PBRM1, SMARCC2, SMARCC1, PGR, BCL7C, HIC1, CUL2, ARID1B, SMAD2, SMAD3, CARM1, ADNP, RARA, SOX2, CHD7, SMARCD1, TP53, ELAVL1, SIRT7, TFAP4, CUL3, SMARCD2, ACTL6A, SMARCD3, PHF10, ECT2, YAP1, ITCH, NEDD4, SHMT2, MOV10, NXF1, EED, DPF3, DPF2, SS18, UNK, BCL7A, BCL7B, ESR1, NCOA1, RARB, RARG, EWSR1, SNW1, CDC5L, CUL1, SKP1, NFATC1, NFATC2, TOP1, CHEK1, VHL, EYA2, NR3C1, AR, ALDH2, TRIM25RNF31TNF, RBCK1, ATXN7, AZI2, TRAF1, TRIM25, DDX58, NOD2, RIPK2, NR0B1, NR0B2, PRKCB, ATN1, ATXN1, GFI1B, TNFAIP3, IKBKG, SHARPIN, UBE2D1, UBE2D3, NOS3, BIRC2, BIRC3, UBC, OTULIN, SMAD3, SOCS3, VCP, NDUFA8, TRAF2, CCDC14, WRNIP1, AKAP8L, ESR1, RNF31, IRAK1, MALT1, KIF1A, PITX1, PRKCA, AES, SNRPC, TSSC4, KRTAP9-2, VASN, CCDC24, UBE2D2, UBE2L3, CD40, ENDOV, ARHGEF10, PPARD, LIPF, LTBR, LDLRAD4, NTRK1, CYLD, RIPK1, TNFRSF1A, PDLIM7, IRF7, CARD11, BCL10, TLR3, SPATA2, LMO2, RABGEF1, FKBPL, SNTG2, KIAA1683, PRIM2, GBP1, PRIM1, ZNF785, ACTBL2, SEPT2, HDAC6, VDAC1, TRAF6, PARK2, MAVS


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 ARID1A_RNF31


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 ARID1A_RNF31


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneARID1AC0038356Stomach Neoplasms3CTD_human
HgeneARID1AC2239176Liver carcinoma3CTD_human
HgeneARID1AC0001418Adenocarcinoma1CTD_human
HgeneARID1AC0005695Bladder Neoplasm1CTD_human
HgeneARID1AC0006413Burkitt Lymphoma1CTD_human
HgeneARID1AC0007138Carcinoma, Transitional Cell1CTD_human
HgeneARID1AC0010606Adenoid Cystic Carcinoma1CTD_human
HgeneARID1AC0014170Endometrial Neoplasms1CTD_human
HgeneARID1AC0027819Neuroblastoma1CTD_human
HgeneARID1AC0036920Sezary Syndrome1CTD_human
HgeneARID1AC0079772T-Cell Lymphoma1CTD_human
HgeneARID1AC0079773Lymphoma, T-Cell, Cutaneous1CTD_human
HgeneARID1AC0206698Cholangiocarcinoma1CTD_human
HgeneARID1AC0265338Coffin-Siris syndrome1CTD_human;ORPHANET
HgeneARID1AC0279628Adenocarcinoma Of Esophagus1CTD_human
HgeneARID1AC0920269Microsatellite Instability1CTD_human
HgeneARID1AC2931822Nasopharyngeal carcinoma1CTD_human