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Open reading frame (ORF) annotation in the exon skipping event | |
3'-UTR located exon skipping events lost miRNA binding sites | |
Splicing Quantitative Trait Loci (sQTLs) in the skipped exons | |
Gene summary for SH3BGR |
Gene summary |
Gene information | Gene symbol | SH3BGR | Gene ID | 6450 |
Gene name | SH3 domain binding glutamate rich protein | |
Synonyms | 21-GARP | |
Cytomap | 21q22.2 | |
Type of gene | protein-coding | |
Description | SH3 domain-binding glutamic acid-rich proteinSH3-binding domain and glutamic acid-rich protein | |
Modification date | 20200313 | |
UniProtAcc | ||
Context |
Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
Gene | GO ID | GO term | PubMed ID |
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Gene structures and expression levels for SH3BGR |
Skipped exons in the ROSMAP, MSBB, and Mayo based on Ensembl gene isoform structure. * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
Differentially expressed gene analysis across multiple brain tissues between AD and control. |
Tissue type | DEG direction | Base mean exp. | log2FC(AD/control) | P-value | Adj. p-value |
Differentially expressed isoform analysis across multiple brain tissues between AD and control. |
Tissue type | DEG direction | ENST | Transcript info. | Base mean exp. | log2FC(AD/control) | P-value | Adjc. p-value |
PCC | UP | ENST00000333634.8 | SH3BGR-201:protein_coding:SH3BGR | 6.511665e+01 | 1.258275e+00 | 1.051812e-11 | 5.988588e-08 |
PG | UP | ENST00000333634.8 | SH3BGR-201:protein_coding:SH3BGR | 3.853553e+01 | 9.623563e-01 | 3.374183e-10 | 1.740596e-07 |
CB | DOWN | ENST00000447939.1 | SH3BGR-207:protein_coding:SH3BGR | 1.154513e+01 | -1.658483e+00 | 1.997851e-04 | 1.330211e-03 |
CB | UP | ENST00000648253.1 | WRB-SH3BGR-202:nonsense_mediated_decay:WRB | 1.118028e+01 | 9.734399e-01 | 9.403578e-03 | 3.305997e-02 |
TC | UP | ENST00000333634.8 | SH3BGR-201:protein_coding:SH3BGR | 1.837306e+02 | 8.173441e-01 | 1.573837e-08 | 1.313658e-06 |
TC | DOWN | ENST00000447939.1 | SH3BGR-207:protein_coding:SH3BGR | 1.627212e+01 | -9.711065e-01 | 1.318562e-03 | 1.219520e-02 |
Landscape of isoform expressions across multiple brain tissues between AD and control. |
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Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for SH3BGR |
Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap). |
All exon skipping events in AD cohorts. |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon |
exon_skip_74647 | chr21 | 39475135:39475215:39499823:39499915:39508998:39509027 | 39499823:39499915 |
Differentially expressed PSI values of individual exon skipping events in multiple brain tissues between AD and control. |
Exon skipping information | Tissue type | Avg(PSIs) in AD | Avg(PSIs) in control | Difference (PSI) | Adj. p-value |
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Open reading frame (ORF) annotation in the exon skipping event for SH3BGR |
Open reading frame (ORF) of individual exon skipping events in ROSMAP based on the Ensembl gene structure combined from isoforms. |
ENST | Start of skipped exon | End of skipped exon | ORF |
ENST00000333634 | 39499823 | 39499915 | In-frame |
Open reading frame (ORF) of individual exon skipping events in MSBB based on the Ensembl gene structure combined from isoforms. |
ENST | Start of skipped exon | End of skipped exon | ORF |
ENST00000333634 | 39499823 | 39499915 | In-frame |
Open reading frame (ORF) of individual exon skipping events in Mayo based on the Ensembl gene structure combined from isoforms. |
ENST | Start of skipped exon | End of skipped exon | ORF |
ENST00000333634 | 39499823 | 39499915 | In-frame |
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Infer the effects of exon skipping event on protein functional features for SH3BGR |
p-ENSG00000185437_img4.png |
Loci of skipped exons in ROSMAP across genomic, transcript, and protein sequence levels of In-frame cases. |
ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
ENST00000333634 | 1268 | 239 | 39499823 | 39499915 | 581 | 672 | 167 | 198 |
Loci of skipped exons in MSBB across genomic, transcript, and protein sequence levels of In-frame cases. |
ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
ENST00000333634 | 1268 | 239 | 39499823 | 39499915 | 581 | 672 | 167 | 198 |
Loci of skipped exons in Mayo across genomic, transcript, and protein sequence levels of In-frame cases. |
ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
ENST00000333634 | 1268 | 239 | 39499823 | 39499915 | 581 | 672 | 167 | 198 |
Lost protein functional features of individual exon skipping events in ROSMAP. |
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 |
P55822 | 167 | 198 | 1 | 239 | Chain | ID=PRO_0000220743;Note=SH3 domain-binding glutamic acid-rich protein |
P55822 | 167 | 198 | 170 | 239 | Compositional bias | Note=Glu-rich (acidic) |
P55822 | 167 | 198 | 188 | 188 | Natural variant | ID=VAR_028233;Note=V->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15489334;Dbxref=dbSNP:rs9974333,PMID:15489334 |
Lost protein functional features of individual exon skipping events in MSBB. |
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 |
P55822 | 167 | 198 | 1 | 239 | Chain | ID=PRO_0000220743;Note=SH3 domain-binding glutamic acid-rich protein |
P55822 | 167 | 198 | 170 | 239 | Compositional bias | Note=Glu-rich (acidic) |
P55822 | 167 | 198 | 188 | 188 | Natural variant | ID=VAR_028233;Note=V->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15489334;Dbxref=dbSNP:rs9974333,PMID:15489334 |
Lost protein functional features of individual exon skipping events in Mayo. |
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 |
P55822 | 167 | 198 | 1 | 239 | Chain | ID=PRO_0000220743;Note=SH3 domain-binding glutamic acid-rich protein |
P55822 | 167 | 198 | 170 | 239 | Compositional bias | Note=Glu-rich (acidic) |
P55822 | 167 | 198 | 188 | 188 | Natural variant | ID=VAR_028233;Note=V->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15489334;Dbxref=dbSNP:rs9974333,PMID:15489334 |
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3'-UTR located exon skipping events that lost miRNA binding sites in SH3BGR |
3'-UTR exon skipping evnets lost miRNA binding. |
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 SH3BGR |
- Differential PSIs between mutated versus non-mutated samples. |
- Depth of Coverage in the skipped exon of the mutated samples. |
- Sashimi plot in the skipped exon of the mutated samples. |
- Non-synonymous mutations located in the skipped exons. |
Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
- Non-synonymous mutations located in the skipped exons in CCLE. |
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 SH3BGR |
Associated exon skipping events with Braak staging or Clinical Dementia Rating (CDR). |
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 SH3BGR |
sQTL information located at the skipped exons. |
Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
TC | exon_skip_74647 | rs7281425 | chr21:39512944 | 4.566520e-09 | 2.882890e-06 |
TC | exon_skip_74647 | rs7282142 | chr21:39513181 | 4.566520e-09 | 2.882890e-06 |
TC | exon_skip_74647 | rs2837061 | chr21:39519935 | 1.197443e-07 | 5.204417e-05 |
TC | exon_skip_74647 | rs2837017 | chr21:39416157 | 2.411056e-06 | 7.457229e-04 |
TC | exon_skip_74647 | rs2009713 | chr21:39494160 | 5.443332e-06 | 1.487551e-03 |
HCC | exon_skip_74647 | rs2009713 | chr21:39494160 | 3.749840e-05 | 3.941031e-03 |
HCC | exon_skip_74647 | rs9983180 | chr21:39445145 | 7.343777e-05 | 7.046975e-03 |
HCC | exon_skip_74647 | rs9983435 | chr21:39444705 | 1.139075e-04 | 1.022086e-02 |
HCC | exon_skip_74647 | rs9982529 | chr21:39468952 | 1.332161e-04 | 1.164508e-02 |
DLPFC | exon_skip_74647 | rs2009713 | chr21:39494160 | 1.188794e-09 | 3.234197e-07 |
DLPFC | exon_skip_74647 | rs9983180 | chr21:39445145 | 1.105075e-07 | 2.041981e-05 |
DLPFC | exon_skip_74647 | rs9983435 | chr21:39444705 | 7.474617e-07 | 1.138179e-04 |
DLPFC | exon_skip_74647 | rs1475593 | chr21:39505879 | 1.050169e-05 | 1.184492e-03 |
DLPFC | exon_skip_74647 | rs874221 | chr21:39475085 | 1.105827e-05 | 1.231471e-03 |
DLPFC | exon_skip_74647 | rs2837017 | chr21:39416157 | 7.251897e-05 | 6.404887e-03 |
DLPFC | exon_skip_74647 | rs2837018 | chr21:39419803 | 1.718922e-04 | 1.347413e-02 |
DLPFC | exon_skip_74647 | rs2065313 | chr21:39426237 | 2.121131e-04 | 1.612011e-02 |
DLPFC | exon_skip_74647 | rs1571715 | chr21:39533633 | 2.650357e-04 | 1.946037e-02 |
DLPFC | exon_skip_74647 | rs2837073 | chr21:39533702 | 2.650357e-04 | 1.946037e-02 |
DLPFC | exon_skip_74647 | rs4239804 | chr21:39533784 | 2.650357e-04 | 1.946037e-02 |
DLPFC | exon_skip_74647 | rs9982529 | chr21:39468952 | 2.797800e-04 | 2.027561e-02 |
DLPFC | exon_skip_74647 | rs1006601 | chr21:39527250 | 3.111390e-04 | 2.219197e-02 |
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Correlation with RNA binding proteins (RBPs) for SH3BGR |
Correlated RBP and related information. |
Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
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RelatedDrugs for SH3BGR |
Approved drugs targeting this gene. (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 SH3BGR |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |