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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: 34830

FusionGeneSummary for SMARCC1_ZBTB8OS

check button Fusion gene summary
Fusion gene informationFusion gene name: SMARCC1_ZBTB8OS
Fusion gene ID: 34830
HgeneTgene
Gene symbol

SMARCC1

ZBTB8OS

Gene ID

6599

339487

Gene nameSWI/SNF related, matrix associated, actin dependent regulator of chromatin subfamily c member 1zinc finger and BTB domain containing 8 opposite strand
SynonymsBAF155|CRACC1|Rsc8|SRG3|SWI3ARCH|ARCH2
Cytomap

3p21.31

1p35.1

Type of geneprotein-codingprotein-coding
DescriptionSWI/SNF complex subunit SMARCC1BRG1-associated factor 155SWI/SNF complex 155 kDa subunitSWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily C member 1chromatin remodeling complex BAF155 subunitmammalian chromatin remodeprotein archeasearchease (ARCH)archease-like proteinzinc finger and BTB domain-containing opposite strand protein 8
Modification date2018052320180523
UniProtAcc

Q92922

Q8IWT0

Ensembl transtripts involved in fusion geneENST00000254480, ENST00000425518, 
ENST00000341885, ENST00000468695, 
ENST00000492007, ENST00000373501, 
Fusion gene scores* DoF score13 X 10 X 9=11702 X 3 X 2=12
# samples 172
** MAII scorelog2(17/1170*10)=-2.78290187833307
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(2/12*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: SMARCC1 [Title/Abstract] AND ZBTB8OS [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
HgeneSMARCC1

GO:0006337

nucleosome disassembly

8895581

HgeneSMARCC1

GO:0006338

chromatin remodeling

10078207|11018012|11726552

HgeneSMARCC1

GO:0045893

positive regulation of transcription, DNA-templated

11018012

TgeneZBTB8OS

GO:0006388

tRNA splicing, via endonucleolytic cleavage and ligation

24870230


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
TCGARVUCECTCGA-H5-A2HR-01ASMARCC1chr3

47651556

-ZBTB8OSchr1

33087549

-
TCGALDUCECTCGA-H5-A2HR-01ASMARCC1chr3

47651556

-ZBTB8OSchr1

33093145

-
* 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-intronENST00000254480ENST00000341885SMARCC1chr3

47651556

-ZBTB8OSchr1

33087549

-
5CDS-intronENST00000254480ENST00000468695SMARCC1chr3

47651556

-ZBTB8OSchr1

33087549

-
5CDS-5UTRENST00000254480ENST00000492007SMARCC1chr3

47651556

-ZBTB8OSchr1

33087549

-
5CDS-5UTRENST00000254480ENST00000373501SMARCC1chr3

47651556

-ZBTB8OSchr1

33087549

-
5UTR-intronENST00000425518ENST00000341885SMARCC1chr3

47651556

-ZBTB8OSchr1

33087549

-
5UTR-intronENST00000425518ENST00000468695SMARCC1chr3

47651556

-ZBTB8OSchr1

33087549

-
5UTR-5UTRENST00000425518ENST00000492007SMARCC1chr3

47651556

-ZBTB8OSchr1

33087549

-
5UTR-5UTRENST00000425518ENST00000373501SMARCC1chr3

47651556

-ZBTB8OSchr1

33087549

-
5CDS-intronENST00000254480ENST00000341885SMARCC1chr3

47651556

-ZBTB8OSchr1

33093145

-
5CDS-intronENST00000254480ENST00000468695SMARCC1chr3

47651556

-ZBTB8OSchr1

33093145

-
5CDS-5UTRENST00000254480ENST00000492007SMARCC1chr3

47651556

-ZBTB8OSchr1

33093145

-
5CDS-5UTRENST00000254480ENST00000373501SMARCC1chr3

47651556

-ZBTB8OSchr1

33093145

-
5UTR-intronENST00000425518ENST00000341885SMARCC1chr3

47651556

-ZBTB8OSchr1

33093145

-
5UTR-intronENST00000425518ENST00000468695SMARCC1chr3

47651556

-ZBTB8OSchr1

33093145

-
5UTR-5UTRENST00000425518ENST00000492007SMARCC1chr3

47651556

-ZBTB8OSchr1

33093145

-
5UTR-5UTRENST00000425518ENST00000373501SMARCC1chr3

47651556

-ZBTB8OSchr1

33093145

-

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FusionProtFeatures for SMARCC1_ZBTB8OS


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
SMARCC1

Q92922

ZBTB8OS

Q8IWT0

Involved in transcriptional activation and repression ofselect genes by chromatin remodeling (alteration of DNA-nucleosometopology). Component of SWI/SNF chromatin remodeling complexesthat carry out key enzymatic activities, changing chromatinstructure by altering DNA-histone contacts within a nucleosome inan ATP-dependent manner. May stimulate the ATPase activity of thecatalytic subunit of the complex (PubMed:10078207). Belongs to theneural progenitors-specific chromatin remodeling complex (npBAFcomplex) and the neuron-specific chromatin remodeling complex(nBAF complex). During neural development a switch from astem/progenitor to a postmitotic chromatin remodeling mechanismoccurs as neurons exit the cell cycle and become committed totheir adult state. The transition from proliferating neuralstem/progenitor cells to postmitotic neurons requires a switch insubunit composition of the npBAF and nBAF complexes. As neuralprogenitors exit mitosis and differentiate into neurons, npBAFcomplexes which contain ACTL6A/BAF53A and PHF10/BAF45A, areexchanged for homologous alternative ACTL6B/BAF53B and DPF1/BAF45Bor DPF3/BAF45C subunits in neuron-specific complexes (nBAF). ThenpBAF complex is essential for the self-renewal/proliferativecapacity of the multipotent neural stem cells. The nBAF complexalong with CREST plays a role regulating the activity of genesessential for dendrite growth (By similarity).{ECO:0000250|UniProtKB:P97496, ECO:0000269|PubMed:10078207,ECO:0000269|PubMed:11018012, ECO:0000303|PubMed:22952240,ECO:0000303|PubMed:26601204}. Component of the tRNA-splicing ligase complex requiredto facilitate the enzymatic turnover of catalytic subunit RTCB.Together with DDX1, acts by facilitating the guanylylation ofRTCB, a key intermediate step in tRNA ligation.{ECO:0000269|PubMed:24870230}.

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 SMARCC1_ZBTB8OS


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 SMARCC1_ZBTB8OS


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
SMARCC1RELB, NR3C1, SMARCD1, SMARCB1, SMARCA4, SMARCA2, SIN3A, KLF1, GATA1, SP1, TP53, BRCA1, STAT2, CCNE1, HSP90B1, NCOR1, SMARCE1, CEBPB, CDK8, ING1, AR, ING2, TAF10, NR4A1, ARID1A, SMARCC2, PBRM1, ADD1, MCPH1, BCL7C, BRD7, ARID1B, AKT1, PRMT5, MYC, SMARCC1, HNRNPC, CHD4, SRRM2, TAF6, NR0B2, NONO, SMAD2, SMAD3, CARM1, EMD, DPF2, TRIM28, RUNX1, CHD7, ARID2, STK11, WHSC1L1, SMARCAD1, SOX2, ELAVL1, SIRT7, DPF3, PHF10, DPF1, ACTL6A, CUL3, CAND1, BAZ1B, SMARCD2, TOP2B, HDAC1, SMARCA5, RBBP5, KDM1A, SMARCA1, NOTCH1, EPAS1, VCP, HDAC6, ITCH, NEDD4, WWOX, AURKB, OTX1, PLSCR1, ADAMTSL4, MOV10, NXF1, MSL1, EED, RNF2, BMI1, SS18, NTRK1, MESDC2, MRE11A, SAMD9, BCL7A, CPSF6, DCTN2, FUBP1, FUBP3, KHSRP, MDC1, METTL13, NCAPH2, SF3A1, TMOD3, YLPM1, SMARCD3, SS18L1, TBL1XR1, NCOA1, KMT2A, EWSR1, HIST1H3E, RAB5C, NR2C2, FOS, JUN, NFATC1, NFATC2, C1orf131, SFPQ, CHEK1, TRIM25ZBTB8OSPRKCH, SHMT2, RDH12, ATP8A2, HSP90B1, PRPF40A, RBBP5


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 SMARCC1_ZBTB8OS


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 SMARCC1_ZBTB8OS


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneSMARCC1C0001418Adenocarcinoma1CTD_human
HgeneSMARCC1C0023893Liver Cirrhosis, Experimental1CTD_human
HgeneSMARCC1C0024121Lung Neoplasms1CTD_human
TgeneZBTB8OSC0032927Precancerous Conditions1CTD_human