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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 SH3PXD2A |
 Gene summary |
| Gene information | Gene symbol | SH3PXD2A | Gene ID | 9644 |
| Gene name | SH3 and PX domains 2A | |
| Synonyms | FISH|SH3MD1|TKS5 | |
| Cytomap | 10q24.33 | |
| Type of gene | protein-coding | |
| Description | SH3 and PX domain-containing protein 2ASH3 multiple domains 1adapter protein TKS5adaptor protein TKS5five SH3 domain-containing proteintyrosine kinase substrate with five SH3 domains | |
| Modification date | 20200313 | |
| UniProtAcc | H0Y507, Q5TCZ1, | |
| Context | - 19837132(A study of the association between the ADAM12 and SH3PXD2A SH3MD1) genes and Alzheimer's disease) |
| Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Gene | GO ID | GO term | PubMed ID |
| SH3PXD2A | GO:0006801 | superoxide metabolic process | 19755710 |
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Gene structures and expression levels for SH3PXD2A |
| 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. |
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ENSG00000107957
| 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 |
| 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 SH3PXD2A |
| Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap). |
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| All exon skipping events in AD cohorts. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon |
| exon_skip_120683 | chr10 | 103735732:103735808:103767094:103767169:103801282:103801297 | 103767094:103767169 |
| exon_skip_121767 | chr10 | 103617197:103617314:103622470:103622553:103627089:103627202 | 103622470:103622553 |
| exon_skip_236065 | chr10 | 103767094:103767169:103801282:103801362:103855195:103855406 | 103801282:103801362 |
| exon_skip_244678 | chr10 | 103661074:103661114:103668608:103668652:103693028:103693056 | 103668608:103668652 |
| exon_skip_248199 | chr10 | 103660983:103661114:103668608:103668652:103693028:103693056 | 103668608:103668652 |
| exon_skip_58 | chr10 | 103617197:103617314:103627089:103627202:103660983:103661114 | 103627089:103627202 |
| exon_skip_83345 | chr10 | 103668608:103668652:103673438:103673556:103693028:103693056 | 103673438:103673556 |
| Differentially expressed PSI values of individual exon skipping events in multiple brain tissues between AD and control. |
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| Exon skipping information | Tissue type | Avg(PSIs) in AD | Avg(PSIs) in control | Difference (PSI) | Adj. p-value |
| exon_skip_121767 | MSBB_PG | 4.613393e-01 | 2.845098e-01 | 1.768295e-01 | 1.531133e-06 |
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Open reading frame (ORF) annotation in the exon skipping event for SH3PXD2A |
| 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 |
| ENST00000369774 | 103767094 | 103767169 | Frame-shift |
| ENST00000369774 | 103622470 | 103622553 | In-frame |
| ENST00000369774 | 103668608 | 103668652 | 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 |
| ENST00000369774 | 103767094 | 103767169 | Frame-shift |
| ENST00000369774 | 103622470 | 103622553 | In-frame |
| ENST00000369774 | 103668608 | 103668652 | 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 |
| ENST00000369774 | 103767094 | 103767169 | Frame-shift |
| ENST00000369774 | 103622470 | 103622553 | In-frame |
| ENST00000369774 | 103668608 | 103668652 | In-frame |
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Infer the effects of exon skipping event on protein functional features for SH3PXD2A |
p-ENSG00000107957_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 |
| ENST00000369774 | 11485 | 1133 | 103668608 | 103668652 | 705 | 748 | 142 | 157 |
| ENST00000369774 | 11485 | 1133 | 103622470 | 103622553 | 996 | 1078 | 239 | 267 |
| 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 |
| ENST00000369774 | 11485 | 1133 | 103668608 | 103668652 | 705 | 748 | 142 | 157 |
| ENST00000369774 | 11485 | 1133 | 103622470 | 103622553 | 996 | 1078 | 239 | 267 |
| 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 |
| ENST00000369774 | 11485 | 1133 | 103668608 | 103668652 | 705 | 748 | 142 | 157 |
| ENST00000369774 | 11485 | 1133 | 103622470 | 103622553 | 996 | 1078 | 239 | 267 |
| 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 |
| Q5TCZ1 | 142 | 157 | 1 | 165 | Alternative sequence | ID=VSP_023312;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:9455477;Dbxref=PMID:9455477 |
| Q5TCZ1 | 142 | 157 | 1 | 1133 | Chain | ID=PRO_0000278488;Note=SH3 and PX domain-containing protein 2A |
| Q5TCZ1 | 239 | 267 | 240 | 267 | Alternative sequence | ID=VSP_023313;Note=In isoform 2 and isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:9455477;Dbxref=PMID:9455477 |
| Q5TCZ1 | 239 | 267 | 1 | 1133 | Chain | ID=PRO_0000278488;Note=SH3 and PX domain-containing protein 2A |
| Q5TCZ1 | 239 | 267 | 266 | 325 | Domain | Note=SH3 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00192 |
| Q5TCZ1 | 239 | 267 | 256 | 256 | Modified residue | Note=Phosphothreonine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:O89032 |
| 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 |
| Q5TCZ1 | 142 | 157 | 1 | 165 | Alternative sequence | ID=VSP_023312;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:9455477;Dbxref=PMID:9455477 |
| Q5TCZ1 | 142 | 157 | 1 | 1133 | Chain | ID=PRO_0000278488;Note=SH3 and PX domain-containing protein 2A |
| Q5TCZ1 | 239 | 267 | 240 | 267 | Alternative sequence | ID=VSP_023313;Note=In isoform 2 and isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:9455477;Dbxref=PMID:9455477 |
| Q5TCZ1 | 239 | 267 | 1 | 1133 | Chain | ID=PRO_0000278488;Note=SH3 and PX domain-containing protein 2A |
| Q5TCZ1 | 239 | 267 | 266 | 325 | Domain | Note=SH3 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00192 |
| Q5TCZ1 | 239 | 267 | 256 | 256 | Modified residue | Note=Phosphothreonine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:O89032 |
| 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 |
| Q5TCZ1 | 142 | 157 | 1 | 165 | Alternative sequence | ID=VSP_023312;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:9455477;Dbxref=PMID:9455477 |
| Q5TCZ1 | 142 | 157 | 1 | 1133 | Chain | ID=PRO_0000278488;Note=SH3 and PX domain-containing protein 2A |
| Q5TCZ1 | 239 | 267 | 240 | 267 | Alternative sequence | ID=VSP_023313;Note=In isoform 2 and isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:9455477;Dbxref=PMID:9455477 |
| Q5TCZ1 | 239 | 267 | 1 | 1133 | Chain | ID=PRO_0000278488;Note=SH3 and PX domain-containing protein 2A |
| Q5TCZ1 | 239 | 267 | 266 | 325 | Domain | Note=SH3 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00192 |
| Q5TCZ1 | 239 | 267 | 256 | 256 | Modified residue | Note=Phosphothreonine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:O89032 |
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3'-UTR located exon skipping events that lost miRNA binding sites in SH3PXD2A |
| 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 SH3PXD2A |
| - 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 SH3PXD2A |
| 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 SH3PXD2A |
| sQTL information located at the skipped exons. |
| Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
| HCC | exon_skip_121767 | rs4917391 | chr10:103522907 | 1.615102e-04 | 1.363506e-02 |
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Correlation with RNA binding proteins (RBPs) for SH3PXD2A |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| CB | SRSF9 | exon_skip_121767 | -4.883100e-01 | 1.325096e-10 |
| CB | SRSF9 | exon_skip_248199 | 4.000163e-01 | 7.429986e-07 |
| FL | SRSF2 | exon_skip_121767 | -5.977083e-01 | 1.360294e-19 |
| FL | ILF2 | exon_skip_121767 | -5.863660e-01 | 9.483166e-19 |
| FL | SRSF1 | exon_skip_121767 | -6.060893e-01 | 3.081394e-20 |
| FL | SRSF9 | exon_skip_121767 | -5.634762e-01 | 3.820468e-17 |
| FL | HNRNPH2 | exon_skip_121767 | -4.610044e-01 | 2.784414e-11 |
| FL | RBM4 | exon_skip_121767 | -5.941390e-01 | 2.526966e-19 |
| FL | RBM4B | exon_skip_121767 | -4.894996e-01 | 1.014354e-12 |
| FL | SRSF1 | exon_skip_248199 | 5.207751e-01 | 4.229527e-11 |
| FL | SRSF9 | exon_skip_248199 | 5.476335e-01 | 2.521715e-12 |
| HCC | ZNF326 | exon_skip_121767 | 6.076658e-01 | 4.859022e-28 |
| HCC | HNRNPF | exon_skip_121767 | 4.842674e-01 | 6.277491e-17 |
| HCC | RBM4B | exon_skip_121767 | 4.602545e-01 | 3.022447e-15 |
| HCC | RBM5 | exon_skip_248199 | -5.053631e-01 | 3.942463e-18 |
| IFG | ZNF326 | exon_skip_121767 | 5.554643e-01 | 2.151344e-03 |
| PCC | ZNF326 | exon_skip_121767 | 4.535402e-01 | 3.754654e-12 |
| PCC | HNRNPF | exon_skip_121767 | 4.350679e-01 | 3.346540e-11 |
| PG | SRSF2 | exon_skip_121767 | -6.015784e-01 | 2.031008e-17 |
| PG | ZNF326 | exon_skip_121767 | -4.045611e-01 | 8.503342e-08 |
| PG | PCBP1 | exon_skip_121767 | -5.083938e-01 | 4.265307e-12 |
| PG | ILF2 | exon_skip_121767 | -6.371417e-01 | 6.061472e-20 |
| PG | SRSF1 | exon_skip_121767 | -5.506831e-01 | 2.621979e-14 |
| PG | SRSF9 | exon_skip_121767 | -5.503204e-01 | 2.747513e-14 |
| PG | HNRNPH2 | exon_skip_121767 | -7.043132e-01 | 9.752653e-26 |
| PG | RBM4 | exon_skip_121767 | -6.098031e-01 | 5.647117e-18 |
| PG | RBM4B | exon_skip_121767 | -4.980547e-01 | 1.335540e-11 |
| STG | SRSF9 | exon_skip_248199 | 4.244250e-01 | 3.095886e-04 |
| TC | SRSF2 | exon_skip_121767 | -4.619567e-01 | 7.802209e-10 |
| TC | PCBP1 | exon_skip_121767 | -4.110187e-01 | 6.709738e-08 |
| TC | ILF2 | exon_skip_121767 | -5.384836e-01 | 2.067558e-13 |
| TC | EWSR1 | exon_skip_121767 | -4.241233e-01 | 2.286205e-08 |
| TC | SRSF9 | exon_skip_121767 | -5.065531e-01 | 8.251345e-12 |
| TC | HNRNPH2 | exon_skip_121767 | -7.087547e-01 | 1.016081e-25 |
| TC | SRSF9 | exon_skip_244678 | 4.303067e-01 | 1.671186e-08 |
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RelatedDrugs for SH3PXD2A |
| 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 SH3PXD2A |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
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