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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: 2619

FusionGeneSummary for ARID1A_THSD7B

check button Fusion gene summary
Fusion gene informationFusion gene name: ARID1A_THSD7B
Fusion gene ID: 2619
HgeneTgene
Gene symbol

ARID1A

THSD7B

Gene ID

8289

80731

Gene nameAT-rich interaction domain 1Athrombospondin type 1 domain containing 7B
SynonymsB120|BAF250|BAF250a|BM029|C1orf4|CSS2|ELD|MRD14|OSA1|P270|SMARCF1|hELD|hOSA1-
Cytomap

1p36.11

2q22.1

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, thrombospondin type-1 domain-containing protein 7Bthrombospondin, type I, domain containing 7B
Modification date2018051920180519
UniProtAcc

O14497

Q9C0I4

Ensembl transtripts involved in fusion geneENST00000324856, ENST00000457599, 
ENST00000374152, ENST00000540690, 
ENST00000409968, ENST00000272643, 
ENST00000413152, ENST00000543459, 
ENST00000485379, 
Fusion gene scores* DoF score21 X 13 X 13=35494 X 3 X 3=36
# samples 314
** MAII scorelog2(31/3549*10)=-3.51707245378671
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(4/36*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: ARID1A [Title/Abstract] AND THSD7B [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


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
TCGARVLIHCTCGA-FV-A3I0-01AARID1Achr1

27059283

+THSD7Bchr2

137639714

+
* 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-5UTRENST00000324856ENST00000409968ARID1Achr1

27059283

+THSD7Bchr2

137639714

+
5CDS-intronENST00000324856ENST00000272643ARID1Achr1

27059283

+THSD7Bchr2

137639714

+
5CDS-intronENST00000324856ENST00000413152ARID1Achr1

27059283

+THSD7Bchr2

137639714

+
5CDS-intronENST00000324856ENST00000543459ARID1Achr1

27059283

+THSD7Bchr2

137639714

+
5CDS-intronENST00000324856ENST00000485379ARID1Achr1

27059283

+THSD7Bchr2

137639714

+
5CDS-5UTRENST00000457599ENST00000409968ARID1Achr1

27059283

+THSD7Bchr2

137639714

+
5CDS-intronENST00000457599ENST00000272643ARID1Achr1

27059283

+THSD7Bchr2

137639714

+
5CDS-intronENST00000457599ENST00000413152ARID1Achr1

27059283

+THSD7Bchr2

137639714

+
5CDS-intronENST00000457599ENST00000543459ARID1Achr1

27059283

+THSD7Bchr2

137639714

+
5CDS-intronENST00000457599ENST00000485379ARID1Achr1

27059283

+THSD7Bchr2

137639714

+
5CDS-5UTRENST00000374152ENST00000409968ARID1Achr1

27059283

+THSD7Bchr2

137639714

+
5CDS-intronENST00000374152ENST00000272643ARID1Achr1

27059283

+THSD7Bchr2

137639714

+
5CDS-intronENST00000374152ENST00000413152ARID1Achr1

27059283

+THSD7Bchr2

137639714

+
5CDS-intronENST00000374152ENST00000543459ARID1Achr1

27059283

+THSD7Bchr2

137639714

+
5CDS-intronENST00000374152ENST00000485379ARID1Achr1

27059283

+THSD7Bchr2

137639714

+
intron-5UTRENST00000540690ENST00000409968ARID1Achr1

27059283

+THSD7Bchr2

137639714

+
intron-intronENST00000540690ENST00000272643ARID1Achr1

27059283

+THSD7Bchr2

137639714

+
intron-intronENST00000540690ENST00000413152ARID1Achr1

27059283

+THSD7Bchr2

137639714

+
intron-intronENST00000540690ENST00000543459ARID1Achr1

27059283

+THSD7Bchr2

137639714

+
intron-intronENST00000540690ENST00000485379ARID1Achr1

27059283

+THSD7Bchr2

137639714

+

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FusionProtFeatures for ARID1A_THSD7B


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

O14497

THSD7B

Q9C0I4


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_THSD7B


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_THSD7B


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, TRIM25THSD7BRANBP10


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_THSD7B


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_THSD7B


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
TgeneTHSD7BC0001973Alcoholic Intoxication, Chronic1PSYGENET