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Center for Computational Systems Medicine
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FusionGeneSummary

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Fusion gene ID: 34846

FusionGeneSummary for SMARCD3_NPIPB7

check button Fusion gene summary
Fusion gene informationFusion gene name: SMARCD3_NPIPB7
Fusion gene ID: 34846
HgeneTgene
Gene symbol

SMARCD3

NPIPB7

Gene ID

6604

440350

Gene nameSWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 3nuclear pore complex interacting protein family member B7
SynonymsBAF60C|CRACD3|Rsc6pA-575C2.4|A-761H5.5|NPIPL1
Cytomap

7q36.1

16p12.1

Type of geneprotein-codingpseudo
DescriptionSWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily D member 360 kDa BRG-1/Brm-associated factor subunit CBRG1-associated factor 60CSWI/SNF complex 60 kDa subunit CSwp73-like proteinchromatin remodeling complex BAF60C snuclear pore complex-interacting protein-like 1
Modification date2018051920180329
UniProtAcc

Q6STE5

O75200

Ensembl transtripts involved in fusion geneENST00000262188, ENST00000392811, 
ENST00000356800, ENST00000477169, 
ENST00000452313, 
Fusion gene scores* DoF score3 X 3 X 2=1816 X 18 X 1=288
# samples 319
** MAII scorelog2(3/18*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(19/288*10)=-0.600069393111365
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: SMARCD3 [Title/Abstract] AND NPIPB7 [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
HgeneSMARCD3

GO:0002052

positive regulation of neuroblast proliferation

18816825

HgeneSMARCD3

GO:0006337

nucleosome disassembly

8895581

HgeneSMARCD3

GO:0006338

chromatin remodeling

11726552

HgeneSMARCD3

GO:0006351

transcription, DNA-templated

14701856

HgeneSMARCD3

GO:0045893

positive regulation of transcription, DNA-templated

14701856


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
ChiTaRS3.1BP276382SMARCD3chr7

150942569

-NPIPB7chr16

28592375

+
* 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
intron-intronENST00000262188ENST00000452313SMARCD3chr7

150942569

-NPIPB7chr16

28592375

+
intron-intronENST00000392811ENST00000452313SMARCD3chr7

150942569

-NPIPB7chr16

28592375

+
intron-intronENST00000356800ENST00000452313SMARCD3chr7

150942569

-NPIPB7chr16

28592375

+
intron-intronENST00000477169ENST00000452313SMARCD3chr7

150942569

-NPIPB7chr16

28592375

+

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FusionProtFeatures for SMARCD3_NPIPB7


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
SMARCD3

Q6STE5

NPIPB7

O75200