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![]() | Open reading frame (ORF) annotation in the exon skipping event |
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![]() | 3'-UTR located exon skipping events lost miRNA binding sites |
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![]() | Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
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Gene summary for SMARCC2 |
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Gene information | Gene symbol | SMARCC2 | Gene ID | 6601 |
Gene name | SWI/SNF related, matrix associated, actin dependent regulator of chromatin subfamily c member 2 | |
Synonyms | BAF170|CRACC2|CSS8|Rsc8 | |
Cytomap | 12q13.2 | |
Type of gene | protein-coding | |
Description | SWI/SNF complex subunit SMARCC2SWI/SNF complex 170 kDa subunitSWI3-like proteinchromatin remodeling complex BAF170 subunitmammalian chromatin remodeling complex BRG1-associated factor 170 | |
Modification date | 20200313 | |
UniProtAcc | ||
Context |
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Gene | GO ID | GO term | PubMed ID |
SMARCC2 | GO:0006337 | nucleosome disassembly | 8895581 |
SMARCC2 | GO:0006338 | chromatin remodeling | 10078207|11018012|11726552 |
SMARCC2 | GO:0045892 | negative regulation of transcription, DNA-templated | 12192000 |
SMARCC2 | GO:0045893 | positive regulation of transcription, DNA-templated | 11018012 |
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Gene structures and expression levels for SMARCC2 |
![]() * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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Tissue type | DEG direction | Base mean exp. | log2FC(AD/control) | P-value | Adj. p-value |
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Tissue type | DEG direction | ENST | Transcript info. | Base mean exp. | log2FC(AD/control) | P-value | Adjc. p-value |
PG | UP | ENST00000552627.1 | SMARCC2-213:retained_intron:SMARCC2 | 8.316811e+00 | 1.314389e+00 | 1.872754e-04 | 4.345818e-03 |
CB | UP | ENST00000549757.5 | SMARCC2-207:retained_intron:SMARCC2 | 1.311714e+02 | 8.560568e-01 | 6.353204e-14 | 1.619891e-11 |
CB | UP | ENST00000550859.5 | SMARCC2-211:lncRNA:SMARCC2 | 2.049970e+01 | 1.559180e+00 | 1.049304e-12 | 1.544139e-10 |
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Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for SMARCC2 |
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Exon skip ID | chr | Exons involved in exon skipping | Skipped exon |
exon_skip_231078 | chr12 | 56172585:56172704:56172937:56173029:56173696:56173849 | 56172937:56173029 |
exon_skip_243118 | chr12 | 56182004:56182079:56183861:56183930:56184175:56184244 | 56183861:56183930 |
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Exon skipping information | Tissue type | Avg(PSIs) in AD | Avg(PSIs) in control | Difference (PSI) | Adj. p-value |
exon_skip_231078 | MSBB_PG | 6.961594e-01 | 8.036842e-01 | -1.075248e-01 | 1.708313e-04 |
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Open reading frame (ORF) annotation in the exon skipping event for SMARCC2 |
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ENST | Start of skipped exon | End of skipped exon | ORF |
ENST00000267064 | 56183861 | 56183930 | Frame-shift |
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ENST | Start of skipped exon | End of skipped exon | ORF |
ENST00000267064 | 56183861 | 56183930 | Frame-shift |
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ENST | Start of skipped exon | End of skipped exon | ORF |
ENST00000267064 | 56183861 | 56183930 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for SMARCC2 |
p-ENSG00000139613_img4.png![]() |
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ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
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ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
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ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
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UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
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UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
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UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
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3'-UTR located exon skipping events that lost miRNA binding sites in SMARCC2 |
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Tissue type | ENST | Exon skip start | Exon skip end | microRNA | Binding site by TargetScan | Binding type by TargetScan | Bdinding site by miRanda | Score of miRanda | Energy by miRanda |
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SNVs in the skipped exons for SMARCC2 |
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Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
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Sample | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
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AD stage-associated exon skippint events for SMARCC2 |
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AD stage info | Cohort | Tissue | SE id | Coefficient | P-value | Chromosome | Strand | E1 start | E1 end | Skipped start | Skipped end | E2 start | E2 end |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for SMARCC2 |
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Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
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Correlation with RNA binding proteins (RBPs) for SMARCC2 |
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Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
DLPFC | G3BP2 | exon_skip_231078 | 6.563119e-01 | 2.198954e-43 |
FL | SRSF2 | exon_skip_231078 | 5.691931e-01 | 1.759620e-18 |
FL | RBM3 | exon_skip_231078 | 4.148944e-01 | 1.109631e-09 |
FL | G3BP2 | exon_skip_231078 | 6.852451e-01 | 6.201235e-29 |
FL | SRSF1 | exon_skip_231078 | 4.388904e-01 | 8.912813e-11 |
HCC | RBM25 | exon_skip_231078 | -4.368185e-01 | 3.793696e-14 |
HCC | SRSF1 | exon_skip_231078 | -4.314889e-01 | 8.313597e-14 |
IFG | G3BP2 | exon_skip_231078 | 4.802332e-01 | 9.697605e-03 |
PCC | G3BP2 | exon_skip_231078 | 7.207208e-01 | 9.635771e-36 |
PG | SRSF2 | exon_skip_231078 | 4.723607e-01 | 3.131793e-12 |
PG | RBM25 | exon_skip_231078 | 4.936580e-01 | 2.252119e-13 |
PG | RBM3 | exon_skip_231078 | 4.717288e-01 | 3.376887e-12 |
PG | G3BP2 | exon_skip_231078 | 7.162567e-01 | 5.571266e-32 |
PG | SRSF1 | exon_skip_231078 | 4.278507e-01 | 4.409809e-10 |
STG | G3BP2 | exon_skip_231078 | 5.186225e-01 | 1.185361e-07 |
TC | SRSF2 | exon_skip_231078 | 4.868228e-01 | 6.695927e-11 |
TC | RBM3 | exon_skip_231078 | 4.362426e-01 | 8.102235e-09 |
TC | G3BP2 | exon_skip_231078 | 6.826542e-01 | 2.750126e-23 |
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RelatedDrugs for SMARCC2 |
![]() (DrugBank Version 5.1.0 2018-04-02) |
UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for SMARCC2 |
![]() (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |