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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 SRGAP3 |
Gene summary |
Gene information | Gene symbol | SRGAP3 | Gene ID | 9901 |
Gene name | SLIT-ROBO Rho GTPase activating protein 3 | |
Synonyms | ARHGAP14|MEGAP|SRGAP2|WRP | |
Cytomap | 3p25.3 | |
Type of gene | protein-coding | |
Description | SLIT-ROBO Rho GTPase-activating protein 3SLIT-ROBO Rho GTPase activating protein 2WAVE-associated Rac GTPase activating proteinmental disorder-associated GAPrho GTPase-activating protein 14 | |
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 SRGAP3 |
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 |
CB | UP | ENST00000475560.5 | SRGAP3-205:lncRNA:SRGAP3 | 6.822816e+00 | 2.134876e+00 | 4.802585e-10 | 2.386893e-08 |
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 SRGAP3 |
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_106005 | chr3 | 9026935:9026995:9032650:9032752:9038063:9038090 | 9032650:9032752 |
exon_skip_107978 | chr3 | 8984478:8985932:8990512:8990839:8992906:8993055 | 8990512:8990839 |
exon_skip_112674 | chr3 | 9028100:9028130:9032650:9032752:9038063:9038090 | 9032650:9032752 |
exon_skip_125693 | chr3 | 9013737:9013842:9014742:9014841:9015597:9015731 | 9014742:9014841 |
exon_skip_148328 | chr3 | 9064396:9064581:9080025:9080087:9104680:9104842 | 9080025:9080087 |
exon_skip_161089 | chr3 | 8985174:8985932:8990512:8990839:8992906:8993055 | 8990512:8990839 |
exon_skip_169238 | chr3 | 9038063:9038090:9047391:9047475:9053027:9053219 | 9047391:9047475 |
exon_skip_173225 | chr3 | 9064396:9064581:9080025:9080087:9104680:9104838 | 9080025:9080087 |
exon_skip_176979 | chr3 | 9026935:9026995:9028100:9028130:9038063:9038090 | 9028100:9028130 |
exon_skip_194396 | chr3 | 9047391:9047475:9049261:9049469:9053027:9053219 | 9049261:9049469 |
exon_skip_248148 | chr3 | 8994343:8994523:9010308:9010387:9013308:9013535 | 9010308:9010387 |
exon_skip_268065 | chr3 | 9025261:9025338:9026935:9026995:9038063:9038090 | 9026935:9026995 |
exon_skip_295606 | chr3 | 9026935:9026995:9038063:9038090:9047391:9047475 | 9038063:9038090 |
exon_skip_55875 | chr3 | 9028100:9028130:9038063:9038090:9047391:9047475 | 9038063:9038090 |
exon_skip_7173 | chr3 | 8981493:8985932:8990512:8990839:8992906:8993055 | 8990512:8990839 |
exon_skip_77749 | chr3 | 9026935:9026995:9028100:9028130:9032650:9032752 | 9028100:9028130 |
exon_skip_85647 | chr3 | 8980594:8985932:8990512:8990839:8992906:8993055 | 8990512:8990839 |
exon_skip_92735 | chr3 | 9038063:9038090:9047391:9047475:9053027:9053224 | 9047391:9047475 |
exon_skip_94139 | chr3 | 8985116:8985932:8990512:8990839:8992906:8993055 | 8990512:8990839 |
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 SRGAP3 |
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 |
ENST00000383836 | 8990512 | 8990839 | Frame-shift |
ENST00000383836 | 9032650 | 9032752 | Frame-shift |
ENST00000383836 | 9080025 | 9080087 | 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 |
ENST00000383836 | 8990512 | 8990839 | Frame-shift |
ENST00000383836 | 9047391 | 9047475 | Frame-shift |
ENST00000383836 | 9080025 | 9080087 | 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 |
ENST00000383836 | 8990512 | 8990839 | Frame-shift |
ENST00000383836 | 9010308 | 9010387 | Frame-shift |
ENST00000383836 | 9032650 | 9032752 | Frame-shift |
ENST00000383836 | 9047391 | 9047475 | Frame-shift |
ENST00000383836 | 9080025 | 9080087 | In-frame |
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Infer the effects of exon skipping event on protein functional features for SRGAP3 |
p-ENSG00000196220_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 |
ENST00000383836 | 8673 | 1099 | 9080025 | 9080087 | 852 | 913 | 141 | 161 |
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 |
ENST00000383836 | 8673 | 1099 | 9080025 | 9080087 | 852 | 913 | 141 | 161 |
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 |
ENST00000383836 | 8673 | 1099 | 9080025 | 9080087 | 852 | 913 | 141 | 161 |
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 |
O43295 | 141 | 161 | 1 | 1099 | Chain | ID=PRO_0000056769;Note=SLIT-ROBO Rho GTPase-activating protein 3 |
O43295 | 141 | 161 | 19 | 314 | Domain | Note=F-BAR;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01077 |
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 |
O43295 | 141 | 161 | 1 | 1099 | Chain | ID=PRO_0000056769;Note=SLIT-ROBO Rho GTPase-activating protein 3 |
O43295 | 141 | 161 | 19 | 314 | Domain | Note=F-BAR;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01077 |
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 |
O43295 | 141 | 161 | 1 | 1099 | Chain | ID=PRO_0000056769;Note=SLIT-ROBO Rho GTPase-activating protein 3 |
O43295 | 141 | 161 | 19 | 314 | Domain | Note=F-BAR;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01077 |
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3'-UTR located exon skipping events that lost miRNA binding sites in SRGAP3 |
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 SRGAP3 |
- 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 SRGAP3 |
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 |
ADstage | MSBB | IFG | exon_skip_85647 | -4.524039e-01 | 1.564150e-02 | chr3 | - | 8980594 | 8985932 | 8990512 | 8990839 | 8992906 | 8993055 |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for SRGAP3 |
sQTL information located at the skipped exons. |
Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
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Correlation with RNA binding proteins (RBPs) for SRGAP3 |
Correlated RBP and related information. |
Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
CB | TARDBP | exon_skip_57705 | -4.875058e-01 | 2.159003e-08 |
CB | CNOT4 | exon_skip_57705 | -5.491879e-01 | 1.198636e-10 |
CB | FXR2 | exon_skip_57705 | -4.239303e-01 | 1.721621e-06 |
CB | PCBP1 | exon_skip_57705 | -5.345655e-01 | 4.518175e-10 |
CB | PCBP4 | exon_skip_57705 | 4.980647e-01 | 9.534606e-09 |
CB | TRA2A | exon_skip_57705 | -5.230281e-01 | 1.231988e-09 |
CB | FUBP1 | exon_skip_57705 | -4.276665e-01 | 1.363128e-06 |
CB | KHSRP | exon_skip_57705 | -5.070637e-01 | 4.646778e-09 |
CB | TRA2A | exon_skip_176979 | -5.267318e-01 | 3.729514e-12 |
CB | TARDBP | exon_skip_110197 | -5.473573e-01 | 3.970482e-11 |
CB | PABPN1 | exon_skip_110197 | -4.508787e-01 | 1.316006e-07 |
CB | CNOT4 | exon_skip_110197 | -5.445961e-01 | 5.195898e-11 |
CB | PCBP1 | exon_skip_110197 | -5.528619e-01 | 2.305428e-11 |
CB | PCBP4 | exon_skip_110197 | 5.370552e-01 | 1.069897e-10 |
CB | TRA2A | exon_skip_110197 | -5.901878e-01 | 4.384144e-13 |
CB | SNRPA | exon_skip_110197 | -5.164083e-01 | 7.074026e-10 |
CB | KHSRP | exon_skip_110197 | -4.891846e-01 | 7.092088e-09 |
CB | RBM23 | exon_skip_110197 | -4.492150e-01 | 1.482203e-07 |
CB | TARDBP | exon_skip_106005 | -5.238018e-01 | 4.301037e-10 |
CB | CNOT4 | exon_skip_106005 | -5.356533e-01 | 1.451920e-10 |
CB | PCBP1 | exon_skip_106005 | -5.283595e-01 | 2.846755e-10 |
CB | PCBP4 | exon_skip_106005 | 4.962125e-01 | 4.610455e-09 |
CB | TRA2A | exon_skip_106005 | -6.109843e-01 | 4.860817e-14 |
CB | SNRPA | exon_skip_106005 | -5.569511e-01 | 1.848860e-11 |
CB | KHSRP | exon_skip_106005 | -4.958597e-01 | 4.746053e-09 |
CB | RBM23 | exon_skip_106005 | -4.214082e-01 | 1.093392e-06 |
CB | CNOT4 | exon_skip_148328 | -4.405246e-01 | 9.683698e-09 |
CB | SRSF1 | exon_skip_148328 | -4.031992e-01 | 1.974860e-07 |
DLPFC | SRSF11 | exon_skip_94139 | -4.052801e-01 | 2.663384e-11 |
DLPFC | HNRNPF | exon_skip_94139 | -4.316645e-01 | 9.060619e-13 |
HCC | PCBP4 | exon_skip_85647 | -4.165596e-01 | 2.989881e-12 |
HCC | HNRNPF | exon_skip_85647 | -4.044237e-01 | 1.425893e-11 |
HCC | ZC3H10 | exon_skip_85647 | -4.237725e-01 | 1.146330e-12 |
IFG | ENOX1 | exon_skip_85647 | 4.069566e-01 | 3.161508e-02 |
IFG | EIF4G2 | exon_skip_85647 | 4.052228e-01 | 3.241872e-02 |
IFG | NOVA1 | exon_skip_85647 | 5.198552e-01 | 4.576796e-03 |
IFG | CNOT4 | exon_skip_77587 | -5.203948e-01 | 5.390932e-03 |
IFG | PTBP1 | exon_skip_77587 | -4.938321e-01 | 8.846999e-03 |
PCC | SAMD4A | exon_skip_7173 | -4.396063e-01 | 9.198022e-11 |
PCC | G3BP2 | exon_skip_7173 | 4.739682e-01 | 1.750852e-12 |
PCC | HNRNPF | exon_skip_7173 | -4.256053e-01 | 4.086888e-10 |
TC | G3BP2 | exon_skip_107978 | 5.745539e-01 | 6.631109e-15 |
TC | PTBP3 | exon_skip_107978 | 4.169877e-01 | 7.464562e-08 |
TC | HNRNPH2 | exon_skip_107978 | 5.366485e-01 | 7.290623e-13 |
TC | ESRP1 | exon_skip_107978 | 5.519628e-01 | 1.172261e-13 |
TC | NOVA1 | exon_skip_107978 | 4.886220e-01 | 1.284600e-10 |
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RelatedDrugs for SRGAP3 |
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 SRGAP3 |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |