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| Open reading frame (ORF) annotation in the exon skipping event |
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| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
| Splicing Quantitative Trait Methylation (sQTM) in the skipped exon |
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Gene summary for SH3BP1 |
 Gene summary |
| Gene information | Gene symbol | SH3BP1 | Gene ID | 23616 |
| Gene name | SH3 domain binding protein 1 | |
| Synonyms | ARHGAP43 | |
| Cytomap | 22q13.1 | |
| Type of gene | protein-coding | |
| Description | SH3 domain-binding protein 13BP-1 | |
| Modification date | 20180523 | |
| UniProtAcc | Q9Y3L3 | |
| Context | PubMed: SH3BP1 [Title/Abstract] AND exon [Title/Abstract] AND skip [Title/Abstract] - Title (PMID) |
| 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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Exon skipping events across known transcript of Ensembl for SH3BP1 from UCSC genome browser |
| Skipped exons in TCGA and GTEx 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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Gene isoform structures and expression levels for SH3BP1 |
| Expression levels of gene isoforms across TCGA. |
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| Expression levels of gene isoforms across GTEx. |
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Exon skipping events with PSIs in TCGA for SH3BP1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_365271 | 22 | 38035701:38035853:38037132:38037175:38037380:38037485 | 38037132:38037175 | ENSG00000100092.16 | ENST00000357436.4,ENST00000442465.2,ENST00000336738.5,ENST00000417536.1 |
| exon_skip_365275 | 22 | 38037132:38037175:38037380:38037485:38038545:38038622 | 38037380:38037485 | ENSG00000100092.16 | ENST00000357436.4,ENST00000469947.1,ENST00000442465.2,ENST00000336738.5,ENST00000417536.1 |
| exon_skip_365279 | 22 | 38037470:38037485:38038545:38038622:38038901:38039013 | 38038545:38038622 | ENSG00000100092.16 | ENST00000357436.4,ENST00000451997.1,ENST00000599616.1,ENST00000442465.2,ENST00000336738.5,ENST00000417536.1 |
| exon_skip_365280 | 22 | 38037470:38037485:38038545:38038744:38038901:38039013 | 38038545:38038744 | ENSG00000100092.16 | ENST00000469947.1 |
| exon_skip_365282 | 22 | 38038905:38039013:38039104:38039181:38039650:38039795 | 38039104:38039181 | ENSG00000100092.16 | ENST00000357436.4,ENST00000495174.1,ENST00000469947.1,ENST00000451997.1,ENST00000599616.1,ENST00000442465.2,ENST00000336738.5,ENST00000417536.1 |
| exon_skip_365285 | 22 | 38039104:38039181:38039650:38039795:38040643:38040712 | 38039650:38039795 | ENSG00000100092.16 | ENST00000357436.4,ENST00000495174.1,ENST00000469947.1,ENST00000451997.1,ENST00000599616.1,ENST00000442465.2,ENST00000336738.5,ENST00000417536.1 |
| exon_skip_365287 | 22 | 38039720:38039795:38040643:38040712:38040876:38040967 | 38040643:38040712 | ENSG00000100092.16 | ENST00000357436.4,ENST00000495174.1,ENST00000469947.1,ENST00000451997.1,ENST00000459646.1,ENST00000599616.1,ENST00000442465.2,ENST00000471650.1,ENST00000336738.5,ENST00000417536.1 |
| exon_skip_365292 | 22 | 38041408:38041517:38042824:38042936:38043273:38043298 | 38042824:38042936 | ENSG00000100092.16 | ENST00000357436.4,ENST00000495174.1,ENST00000469947.1,ENST00000451997.1,ENST00000599616.1,ENST00000442465.2,ENST00000471650.1,ENST00000336738.5,ENST00000417536.1 |
| exon_skip_365293 | 22 | 38043273:38043355:38043447:38043528:38044325:38044442 | 38043447:38043528 | ENSG00000100092.16 | ENST00000357436.4,ENST00000469947.1,ENST00000451997.1,ENST00000466097.1,ENST00000599616.1,ENST00000442465.2,ENST00000336738.5,ENST00000417536.1 |
| exon_skip_365294 | 22 | 38043447:38043528:38044325:38044442:38046158:38046256 | 38044325:38044442 | ENSG00000100092.16 | ENST00000357436.4,ENST00000469947.1,ENST00000451997.1,ENST00000466097.1,ENST00000599616.1 |
| exon_skip_365296 | 22 | 38044325:38044442:38044755:38044853:38046158:38046256 | 38044755:38044853 | ENSG00000100092.16 | ENST00000442465.2 |
| exon_skip_365299 | 22 | 38044325:38044442:38046092:38046256:38046548:38046621 | 38046092:38046256 | ENSG00000100092.16 | ENST00000417536.1 |
| exon_skip_365301 | 22 | 38044325:38044442:38046158:38046256:38046548:38046621 | 38046158:38046256 | ENSG00000100092.16 | ENST00000357436.4,ENST00000469947.1,ENST00000451997.1,ENST00000466097.1,ENST00000599616.1 |
| exon_skip_365305 | 22 | 38049790:38049880:38051278:38051322:38051932:38052048 | 38051278:38051322 | ENSG00000100092.16 | ENST00000417536.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for SH3BP1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_365271 | 22 | 38035701:38035853:38037132:38037175:38037380:38037485 | 38037132:38037175 | ENSG00000100092.16 | ENST00000417536.1,ENST00000357436.4,ENST00000336738.5,ENST00000442465.2 |
| exon_skip_365275 | 22 | 38037132:38037175:38037380:38037485:38038545:38038622 | 38037380:38037485 | ENSG00000100092.16 | ENST00000417536.1,ENST00000357436.4,ENST00000336738.5,ENST00000442465.2,ENST00000469947.1 |
| exon_skip_365279 | 22 | 38037470:38037485:38038545:38038622:38038901:38039013 | 38038545:38038622 | ENSG00000100092.16 | ENST00000417536.1,ENST00000357436.4,ENST00000336738.5,ENST00000451997.1,ENST00000442465.2,ENST00000599616.1 |
| exon_skip_365280 | 22 | 38037470:38037485:38038545:38038744:38038901:38039013 | 38038545:38038744 | ENSG00000100092.16 | ENST00000469947.1 |
| exon_skip_365282 | 22 | 38038905:38039013:38039104:38039181:38039650:38039795 | 38039104:38039181 | ENSG00000100092.16 | ENST00000417536.1,ENST00000357436.4,ENST00000336738.5,ENST00000451997.1,ENST00000442465.2,ENST00000469947.1,ENST00000495174.1,ENST00000599616.1 |
| exon_skip_365285 | 22 | 38039104:38039181:38039650:38039795:38040643:38040712 | 38039650:38039795 | ENSG00000100092.16 | ENST00000417536.1,ENST00000357436.4,ENST00000336738.5,ENST00000451997.1,ENST00000442465.2,ENST00000469947.1,ENST00000495174.1,ENST00000599616.1 |
| exon_skip_365287 | 22 | 38039720:38039795:38040643:38040712:38040876:38040967 | 38040643:38040712 | ENSG00000100092.16 | ENST00000417536.1,ENST00000357436.4,ENST00000336738.5,ENST00000451997.1,ENST00000442465.2,ENST00000469947.1,ENST00000495174.1,ENST00000599616.1,ENST00000471650.1,ENST00000459646.1 |
| exon_skip_365292 | 22 | 38041408:38041517:38042824:38042936:38043273:38043298 | 38042824:38042936 | ENSG00000100092.16 | ENST00000417536.1,ENST00000357436.4,ENST00000336738.5,ENST00000451997.1,ENST00000442465.2,ENST00000469947.1,ENST00000495174.1,ENST00000599616.1,ENST00000471650.1 |
| exon_skip_365293 | 22 | 38043273:38043355:38043447:38043528:38044325:38044442 | 38043447:38043528 | ENSG00000100092.16 | ENST00000417536.1,ENST00000357436.4,ENST00000336738.5,ENST00000451997.1,ENST00000442465.2,ENST00000469947.1,ENST00000599616.1,ENST00000466097.1 |
| exon_skip_365294 | 22 | 38043447:38043528:38044325:38044442:38046158:38046256 | 38044325:38044442 | ENSG00000100092.16 | ENST00000357436.4,ENST00000451997.1,ENST00000469947.1,ENST00000599616.1,ENST00000466097.1 |
| exon_skip_365296 | 22 | 38044325:38044442:38044755:38044853:38046158:38046256 | 38044755:38044853 | ENSG00000100092.16 | ENST00000442465.2 |
| exon_skip_365299 | 22 | 38044325:38044442:38046092:38046256:38046548:38046621 | 38046092:38046256 | ENSG00000100092.16 | ENST00000417536.1 |
| exon_skip_365301 | 22 | 38044325:38044442:38046158:38046256:38046548:38046621 | 38046158:38046256 | ENSG00000100092.16 | ENST00000357436.4,ENST00000451997.1,ENST00000469947.1,ENST00000599616.1,ENST00000466097.1 |
| exon_skip_365305 | 22 | 38049790:38049880:38051278:38051322:38051932:38052048 | 38051278:38051322 | ENSG00000100092.16 | ENST00000417536.1 |
| PSI values of skipped exons in GTEx. |
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| * Skipped exon sequences. |
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Open reading frame (ORF) annotation in the exon skipping event for SH3BP1 |
| Open reading frame (ORF) of individual exon skipping events in TCGA based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000357436 | 38037132 | 38037175 | Frame-shift |
| ENST00000357436 | 38038545 | 38038622 | Frame-shift |
| ENST00000357436 | 38039104 | 38039181 | Frame-shift |
| ENST00000357436 | 38039650 | 38039795 | Frame-shift |
| ENST00000357436 | 38042824 | 38042936 | Frame-shift |
| ENST00000357436 | 38046158 | 38046256 | Frame-shift |
| ENST00000357436 | 38037380 | 38037485 | In-frame |
| ENST00000357436 | 38040643 | 38040712 | In-frame |
| ENST00000357436 | 38043447 | 38043528 | In-frame |
| ENST00000357436 | 38044325 | 38044442 | In-frame |
| Open reading frame (ORF) of individual exon skipping events in GTEx based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000357436 | 38037132 | 38037175 | Frame-shift |
| ENST00000357436 | 38038545 | 38038622 | Frame-shift |
| ENST00000357436 | 38039104 | 38039181 | Frame-shift |
| ENST00000357436 | 38039650 | 38039795 | Frame-shift |
| ENST00000357436 | 38042824 | 38042936 | Frame-shift |
| ENST00000357436 | 38046158 | 38046256 | Frame-shift |
| ENST00000357436 | 38037380 | 38037485 | In-frame |
| ENST00000357436 | 38040643 | 38040712 | In-frame |
| ENST00000357436 | 38043447 | 38043528 | In-frame |
| ENST00000357436 | 38044325 | 38044442 | In-frame |
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Infer the effects of exon skipping event on protein functional features for SH3BP1 |
| Exon skipping at the protein sequence level and followed lost functional features. * Click on the image to enlarge it in a new window. |
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| Loci of skipped exons in TCGA 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 |
| ENST00000357436 | 2869 | 701 | 38037380 | 38037485 | 416 | 520 | 34 | 69 |
| ENST00000357436 | 2869 | 701 | 38040643 | 38040712 | 932 | 1000 | 206 | 229 |
| ENST00000357436 | 2869 | 701 | 38043447 | 38043528 | 1432 | 1512 | 373 | 399 |
| ENST00000357436 | 2869 | 701 | 38044325 | 38044442 | 1513 | 1629 | 400 | 438 |
| Loci of skipped exons in GTEx 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 |
| ENST00000357436 | 2869 | 701 | 38037380 | 38037485 | 416 | 520 | 34 | 69 |
| ENST00000357436 | 2869 | 701 | 38040643 | 38040712 | 932 | 1000 | 206 | 229 |
| ENST00000357436 | 2869 | 701 | 38043447 | 38043528 | 1432 | 1512 | 373 | 399 |
| ENST00000357436 | 2869 | 701 | 38044325 | 38044442 | 1513 | 1629 | 400 | 438 |
| Lost protein functional features of individual exon skipping events in TCGA. |
| 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 |
| Q9Y3L3 | 34 | 69 | 1 | 701 | Chain | ID=PRO_0000056723;Note=SH3 domain-binding protein 1 |
| Q9Y3L3 | 34 | 69 | 17 | 262 | Domain | Note=BAR;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00361 |
| Q9Y3L3 | 34 | 69 | 1 | 275 | Region | Note=Interaction with CGNL1;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22891260;Dbxref=PMID:22891260 |
| Q9Y3L3 | 206 | 229 | 1 | 701 | Chain | ID=PRO_0000056723;Note=SH3 domain-binding protein 1 |
| Q9Y3L3 | 206 | 229 | 17 | 262 | Domain | Note=BAR;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00361 |
| Q9Y3L3 | 206 | 229 | 1 | 275 | Region | Note=Interaction with CGNL1;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22891260;Dbxref=PMID:22891260 |
| Q9Y3L3 | 373 | 399 | 1 | 701 | Chain | ID=PRO_0000056723;Note=SH3 domain-binding protein 1 |
| Q9Y3L3 | 373 | 399 | 276 | 469 | Domain | Note=Rho-GAP;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00172 |
| Q9Y3L3 | 400 | 438 | 1 | 701 | Chain | ID=PRO_0000056723;Note=SH3 domain-binding protein 1 |
| Q9Y3L3 | 400 | 438 | 276 | 469 | Domain | Note=Rho-GAP;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00172 |
| Lost protein functional features of individual exon skipping events in GTEx. |
| 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 |
| Q9Y3L3 | 34 | 69 | 1 | 701 | Chain | ID=PRO_0000056723;Note=SH3 domain-binding protein 1 |
| Q9Y3L3 | 34 | 69 | 17 | 262 | Domain | Note=BAR;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00361 |
| Q9Y3L3 | 34 | 69 | 1 | 275 | Region | Note=Interaction with CGNL1;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22891260;Dbxref=PMID:22891260 |
| Q9Y3L3 | 206 | 229 | 1 | 701 | Chain | ID=PRO_0000056723;Note=SH3 domain-binding protein 1 |
| Q9Y3L3 | 206 | 229 | 17 | 262 | Domain | Note=BAR;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00361 |
| Q9Y3L3 | 206 | 229 | 1 | 275 | Region | Note=Interaction with CGNL1;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22891260;Dbxref=PMID:22891260 |
| Q9Y3L3 | 373 | 399 | 1 | 701 | Chain | ID=PRO_0000056723;Note=SH3 domain-binding protein 1 |
| Q9Y3L3 | 373 | 399 | 276 | 469 | Domain | Note=Rho-GAP;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00172 |
| Q9Y3L3 | 400 | 438 | 1 | 701 | Chain | ID=PRO_0000056723;Note=SH3 domain-binding protein 1 |
| Q9Y3L3 | 400 | 438 | 276 | 469 | Domain | Note=Rho-GAP;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00172 |
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SNVs in the skipped exons for SH3BP1 |
| - Lollipop plot for presenting exon skipping associated SNVs. * Click on the image to enlarge it in a new window. |
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| - Differential PSIs between mutated versus non-mutated samples. |
| - Non-synonymous mutations located in the skipped exons in TCGA. |
| Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_365275 | 38037381 | 38037485 | 38037403 | 38037403 | Frame_Shift_Del | C | - | p.A42fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_365279 | 38038546 | 38038622 | 38038620 | 38038620 | Frame_Shift_Del | G | - | p.M30fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_365280 | 38038546 | 38038744 | 38038620 | 38038620 | Frame_Shift_Del | G | - | p.M30fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_365299 | 38046093 | 38046256 | 38046114 | 38046114 | Frame_Shift_Del | G | - | p.L446fs |
| STAD | TCGA-MX-A5UJ-01 | exon_skip_365305 | 38051279 | 38051322 | 38051314 | 38051314 | Frame_Shift_Del | C | - | p.P578fs |
| STAD | TCGA-F1-6177-01 | exon_skip_365292 | 38042825 | 38042936 | 38042889 | 38042890 | Frame_Shift_Ins | - | C | p.D330fs |
| COAD | TCGA-D5-6928-01 | exon_skip_365305 | 38051279 | 38051322 | 38051313 | 38051314 | Frame_Shift_Ins | - | C | p.P576fs |
| ESCA | TCGA-L5-A4OI-01 | exon_skip_365305 | 38051279 | 38051322 | 38051313 | 38051314 | Frame_Shift_Ins | - | C | p.PP576fs |
| ESCA | TCGA-L5-A4OI-01 | exon_skip_365305 | 38051279 | 38051322 | 38051313 | 38051314 | Frame_Shift_Ins | - | C | p.Q578fs |
| LUAD | TCGA-55-1596-01 | exon_skip_365305 | 38051279 | 38051322 | 38051313 | 38051314 | Frame_Shift_Ins | - | C | p.PP576fs |
| THYM | TCGA-XM-A8RD-01 | exon_skip_365294 | 38044326 | 38044442 | 38044408 | 38044408 | Nonsense_Mutation | G | T | p.G428X |
| LUSC | TCGA-66-2782-01 | exon_skip_365282 | 38039105 | 38039181 | 38039103 | 38039103 | Splice_Site | A | T | p.E133_splice |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
| - 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 |
| IOMMLEE_CENTRAL_NERVOUS_SYSTEM | 38037133 | 38037175 | 38037158 | 38037158 | Missense_Mutation | G | A | p.G29S |
| HCT15_LARGE_INTESTINE | 38037381 | 38037485 | 38037433 | 38037433 | Missense_Mutation | G | A | p.R52Q |
| MHHPREB1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 38038546 | 38038744 | 38038610 | 38038610 | Missense_Mutation | A | G | p.D91G |
| MHHPREB1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 38038546 | 38038622 | 38038610 | 38038610 | Missense_Mutation | A | G | p.D91G |
| BE2M17_AUTONOMIC_GANGLIA | 38039651 | 38039795 | 38039653 | 38039653 | Missense_Mutation | T | C | p.L159P |
| SKNBE2_AUTONOMIC_GANGLIA | 38039651 | 38039795 | 38039653 | 38039653 | Missense_Mutation | T | C | p.L159P |
| SNU1040_LARGE_INTESTINE | 38039651 | 38039795 | 38039722 | 38039722 | Missense_Mutation | C | T | p.T182M |
| JHUEM1_ENDOMETRIUM | 38042825 | 38042936 | 38042906 | 38042906 | Missense_Mutation | G | A | p.E336K |
| HCT15_LARGE_INTESTINE | 38043448 | 38043528 | 38043507 | 38043507 | Missense_Mutation | C | A | p.P393H |
| DG75_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 38044326 | 38044442 | 38044348 | 38044348 | Missense_Mutation | C | T | p.R408W |
| JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 38046093 | 38046256 | 38046166 | 38046166 | Missense_Mutation | G | A | p.A442T |
| JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 38046159 | 38046256 | 38046166 | 38046166 | Missense_Mutation | G | A | p.A442T |
| SKLMS1_SOFT_TISSUE | 38046093 | 38046256 | 38046187 | 38046187 | Missense_Mutation | G | A | p.V449M |
| SKLMS1_SOFT_TISSUE | 38046159 | 38046256 | 38046187 | 38046187 | Missense_Mutation | G | A | p.V449M |
| SW900_LUNG | 38046093 | 38046256 | 38046205 | 38046205 | Missense_Mutation | G | A | p.V455M |
| SW900_LUNG | 38046159 | 38046256 | 38046205 | 38046205 | Missense_Mutation | G | A | p.V455M |
| SNU1040_LARGE_INTESTINE | 38046093 | 38046256 | 38046244 | 38046244 | Missense_Mutation | C | A | p.L468I |
| SNU1040_LARGE_INTESTINE | 38046159 | 38046256 | 38046244 | 38046244 | Missense_Mutation | C | A | p.L468I |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for SH3BP1 |
| sQTL information located at the skipped exons. |
| Exon skip ID | Chromosome | Three exons | Skippped exon | ENST | Cancer type | SNP id | Location | DNA change (ref/var) | P-value |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for SH3BP1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for SH3BP1 |
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RelatedDrugs for SH3BP1 |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for SH3BP1 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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