|
||||||
|
 | |
| |
| |
| 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 SH3D19 |
 Gene summary |
| Gene information | Gene symbol | SH3D19 | Gene ID | 152503 |
| Gene name | SH3 domain containing 19 | |
| Synonyms | EBP|EVE1|Eve-1|Kryn|SH3P19 | |
| Cytomap | 4q31.3 | |
| Type of gene | protein-coding | |
| Description | SH3 domain-containing protein 19ADAM-binding protein Eve-1EEN-binding proteinSH3 domain protein D19 | |
| 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 |
Top |
Gene structures and expression levels for SH3D19 |
| 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. |
 |
ENSG00000109686
| 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 | DOWN | ENST00000478503.6 | SH3D19-207:retained_intron:SH3D19 | 1.433429e+02 | -8.664819e-01 | 7.679548e-05 | 5.930430e-04 |
| CB | UP | ENST00000427414.2 | SH3D19-204:protein_coding:SH3D19 | 8.400888e+00 | 1.009766e+00 | 4.316462e-03 | 1.744401e-02 |
| Landscape of isoform expressions across multiple brain tissues between AD and control. |
 |
Top |
Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for SH3D19 |
| 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_106882 | chr4 | 151128170:151128356:151132331:151132383:151133034:151133236 | 151132331:151132383 |
| exon_skip_132314 | chr4 | 151139775:151139847:151143910:151144050:151147922:151148186 | 151143910:151144050 |
| exon_skip_136759 | chr4 | 151179355:151179397:151181689:151181729:151187423:151187463 | 151181689:151181729 |
| exon_skip_152851 | chr4 | 151143910:151144050:151147922:151148186:151149500:151149561 | 151147922:151148186 |
| exon_skip_169559 | chr4 | 151159240:151159352:151165589:151165696:151174670:151174945 | 151165589:151165696 |
| exon_skip_170784 | chr4 | 151159240:151159352:151165589:151165696:151174670:151175292 | 151165589:151165696 |
| exon_skip_186548 | chr4 | 151226047:151226086:151226168:151226240:151227760:151227917 | 151226168:151226240 |
| exon_skip_229523 | chr4 | 151144220:151144288:151147922:151148186:151149500:151149561 | 151147922:151148186 |
| exon_skip_263719 | chr4 | 151149500:151149561:151159240:151159352:151165589:151165696 | 151159240:151159352 |
| exon_skip_277680 | chr4 | 151143910:151144050:151144220:151144288:151147922:151148186 | 151144220:151144288 |
| exon_skip_292763 | chr4 | 151133034:151133236:151135074:151135132:151137732:151137862 | 151135074:151135132 |
| exon_skip_36810 | chr4 | 151135074:151135132:151137732:151137862:151139775:151139847 | 151137732:151137862 |
| exon_skip_78263 | chr4 | 151137733:151137862:151139775:151139847:151143910:151144050 | 151139775:151139847 |
| exon_skip_98803 | chr4 | 151179355:151179397:151187423:151187463:151226047:151226066 | 151187423:151187463 |
| 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 |
Top |
Open reading frame (ORF) annotation in the exon skipping event for SH3D19 |
| 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 |
| ENST00000304527 | 151187423 | 151187463 | 3UTR-3UTR |
| ENST00000409252 | 151187423 | 151187463 | 3UTR-3UTR |
| ENST00000304527 | 151132331 | 151132383 | Frame-shift |
| ENST00000409252 | 151132331 | 151132383 | Frame-shift |
| ENST00000304527 | 151139775 | 151139847 | Frame-shift |
| ENST00000409252 | 151139775 | 151139847 | Frame-shift |
| ENST00000304527 | 151147922 | 151148186 | Frame-shift |
| ENST00000409252 | 151147922 | 151148186 | Frame-shift |
| ENST00000304527 | 151144220 | 151144288 | In-frame |
| ENST00000409252 | 151144220 | 151144288 | In-frame |
| ENST00000304527 | 151165589 | 151165696 | In-frame |
| ENST00000409252 | 151165589 | 151165696 | 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 |
| ENST00000304527 | 151187423 | 151187463 | 3UTR-3UTR |
| ENST00000409252 | 151187423 | 151187463 | 3UTR-3UTR |
| ENST00000304527 | 151132331 | 151132383 | Frame-shift |
| ENST00000409252 | 151132331 | 151132383 | Frame-shift |
| ENST00000304527 | 151137732 | 151137862 | Frame-shift |
| ENST00000409252 | 151137732 | 151137862 | Frame-shift |
| ENST00000304527 | 151144220 | 151144288 | In-frame |
| ENST00000409252 | 151144220 | 151144288 | In-frame |
| ENST00000304527 | 151165589 | 151165696 | In-frame |
| ENST00000409252 | 151165589 | 151165696 | 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 |
| ENST00000304527 | 151187423 | 151187463 | 3UTR-3UTR |
| ENST00000409252 | 151187423 | 151187463 | 3UTR-3UTR |
| ENST00000304527 | 151132331 | 151132383 | Frame-shift |
| ENST00000409252 | 151132331 | 151132383 | Frame-shift |
| ENST00000304527 | 151135074 | 151135132 | Frame-shift |
| ENST00000409252 | 151135074 | 151135132 | Frame-shift |
| ENST00000304527 | 151137732 | 151137862 | Frame-shift |
| ENST00000409252 | 151137732 | 151137862 | Frame-shift |
| ENST00000304527 | 151139775 | 151139847 | Frame-shift |
| ENST00000409252 | 151139775 | 151139847 | Frame-shift |
| ENST00000304527 | 151147922 | 151148186 | Frame-shift |
| ENST00000409252 | 151147922 | 151148186 | Frame-shift |
| ENST00000304527 | 151159240 | 151159352 | Frame-shift |
| ENST00000409252 | 151159240 | 151159352 | Frame-shift |
| ENST00000304527 | 151144220 | 151144288 | In-frame |
| ENST00000409252 | 151144220 | 151144288 | In-frame |
| ENST00000304527 | 151165589 | 151165696 | In-frame |
| ENST00000409252 | 151165589 | 151165696 | In-frame |
Top |
Infer the effects of exon skipping event on protein functional features for SH3D19 |
p-ENSG00000109686_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 |
| ENST00000304527 | 5290 | 790 | 151165589 | 151165696 | 1785 | 1891 | 231 | 267 |
| ENST00000409252 | 4905 | 790 | 151165589 | 151165696 | 1403 | 1509 | 231 | 267 |
| ENST00000304527 | 5290 | 790 | 151144220 | 151144288 | 2333 | 2400 | 414 | 436 |
| ENST00000409252 | 4905 | 790 | 151144220 | 151144288 | 1951 | 2018 | 414 | 436 |
| 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 |
| ENST00000304527 | 5290 | 790 | 151165589 | 151165696 | 1785 | 1891 | 231 | 267 |
| ENST00000409252 | 4905 | 790 | 151165589 | 151165696 | 1403 | 1509 | 231 | 267 |
| ENST00000304527 | 5290 | 790 | 151144220 | 151144288 | 2333 | 2400 | 414 | 436 |
| ENST00000409252 | 4905 | 790 | 151144220 | 151144288 | 1951 | 2018 | 414 | 436 |
| 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 |
| ENST00000304527 | 5290 | 790 | 151165589 | 151165696 | 1785 | 1891 | 231 | 267 |
| ENST00000409252 | 4905 | 790 | 151165589 | 151165696 | 1403 | 1509 | 231 | 267 |
| ENST00000304527 | 5290 | 790 | 151144220 | 151144288 | 2333 | 2400 | 414 | 436 |
| ENST00000409252 | 4905 | 790 | 151144220 | 151144288 | 1951 | 2018 | 414 | 436 |
| 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 |
| Q5HYK7 | 231 | 267 | 1 | 370 | Alternative sequence | ID=VSP_031182;Note=In isoform 4 and isoform 5. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q5HYK7 | 231 | 267 | 1 | 370 | Alternative sequence | ID=VSP_031182;Note=In isoform 4 and isoform 5. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q5HYK7 | 231 | 267 | 232 | 268 | Alternative sequence | ID=VSP_031183;Note=In isoform 3. DPFQLPAKTEPIKERAVQPAPTRKPTVIRIPAKPGKC->G;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q5HYK7 | 231 | 267 | 232 | 268 | Alternative sequence | ID=VSP_031183;Note=In isoform 3. DPFQLPAKTEPIKERAVQPAPTRKPTVIRIPAKPGKC->G;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q5HYK7 | 231 | 267 | 1 | 790 | Chain | ID=PRO_0000318197;Note=SH3 domain-containing protein 19 |
| Q5HYK7 | 231 | 267 | 1 | 790 | Chain | ID=PRO_0000318197;Note=SH3 domain-containing protein 19 |
| Q5HYK7 | 231 | 267 | 86 | 350 | Compositional bias | Note=Pro-rich |
| Q5HYK7 | 231 | 267 | 86 | 350 | Compositional bias | Note=Pro-rich |
| Q5HYK7 | 231 | 267 | 264 | 264 | Sequence conflict | Note=K->R;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q5HYK7 | 231 | 267 | 264 | 264 | Sequence conflict | Note=K->R;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q5HYK7 | 231 | 267 | 267 | 267 | Sequence conflict | Note=K->E;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q5HYK7 | 231 | 267 | 267 | 267 | Sequence conflict | Note=K->E;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q5HYK7 | 414 | 436 | 415 | 437 | Alternative sequence | ID=VSP_031184;Note=In isoform 2%2C isoform 3 and isoform 5. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334;Dbxref=PMID:14702039,PMID:15489334 |
| Q5HYK7 | 414 | 436 | 415 | 437 | Alternative sequence | ID=VSP_031184;Note=In isoform 2%2C isoform 3 and isoform 5. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334;Dbxref=PMID:14702039,PMID:15489334 |
| Q5HYK7 | 414 | 436 | 1 | 790 | Chain | ID=PRO_0000318197;Note=SH3 domain-containing protein 19 |
| Q5HYK7 | 414 | 436 | 1 | 790 | Chain | ID=PRO_0000318197;Note=SH3 domain-containing protein 19 |
| Q5HYK7 | 414 | 436 | 415 | 477 | Domain | Note=SH3 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00192 |
| Q5HYK7 | 414 | 436 | 415 | 477 | Domain | Note=SH3 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00192 |
| 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 |
| Q5HYK7 | 231 | 267 | 1 | 370 | Alternative sequence | ID=VSP_031182;Note=In isoform 4 and isoform 5. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q5HYK7 | 231 | 267 | 1 | 370 | Alternative sequence | ID=VSP_031182;Note=In isoform 4 and isoform 5. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q5HYK7 | 231 | 267 | 232 | 268 | Alternative sequence | ID=VSP_031183;Note=In isoform 3. DPFQLPAKTEPIKERAVQPAPTRKPTVIRIPAKPGKC->G;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q5HYK7 | 231 | 267 | 232 | 268 | Alternative sequence | ID=VSP_031183;Note=In isoform 3. DPFQLPAKTEPIKERAVQPAPTRKPTVIRIPAKPGKC->G;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q5HYK7 | 231 | 267 | 1 | 790 | Chain | ID=PRO_0000318197;Note=SH3 domain-containing protein 19 |
| Q5HYK7 | 231 | 267 | 1 | 790 | Chain | ID=PRO_0000318197;Note=SH3 domain-containing protein 19 |
| Q5HYK7 | 231 | 267 | 86 | 350 | Compositional bias | Note=Pro-rich |
| Q5HYK7 | 231 | 267 | 86 | 350 | Compositional bias | Note=Pro-rich |
| Q5HYK7 | 231 | 267 | 264 | 264 | Sequence conflict | Note=K->R;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q5HYK7 | 231 | 267 | 264 | 264 | Sequence conflict | Note=K->R;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q5HYK7 | 231 | 267 | 267 | 267 | Sequence conflict | Note=K->E;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q5HYK7 | 231 | 267 | 267 | 267 | Sequence conflict | Note=K->E;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q5HYK7 | 414 | 436 | 415 | 437 | Alternative sequence | ID=VSP_031184;Note=In isoform 2%2C isoform 3 and isoform 5. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334;Dbxref=PMID:14702039,PMID:15489334 |
| Q5HYK7 | 414 | 436 | 415 | 437 | Alternative sequence | ID=VSP_031184;Note=In isoform 2%2C isoform 3 and isoform 5. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334;Dbxref=PMID:14702039,PMID:15489334 |
| Q5HYK7 | 414 | 436 | 1 | 790 | Chain | ID=PRO_0000318197;Note=SH3 domain-containing protein 19 |
| Q5HYK7 | 414 | 436 | 1 | 790 | Chain | ID=PRO_0000318197;Note=SH3 domain-containing protein 19 |
| Q5HYK7 | 414 | 436 | 415 | 477 | Domain | Note=SH3 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00192 |
| Q5HYK7 | 414 | 436 | 415 | 477 | Domain | Note=SH3 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00192 |
| 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 |
| Q5HYK7 | 231 | 267 | 1 | 370 | Alternative sequence | ID=VSP_031182;Note=In isoform 4 and isoform 5. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q5HYK7 | 231 | 267 | 1 | 370 | Alternative sequence | ID=VSP_031182;Note=In isoform 4 and isoform 5. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q5HYK7 | 231 | 267 | 232 | 268 | Alternative sequence | ID=VSP_031183;Note=In isoform 3. DPFQLPAKTEPIKERAVQPAPTRKPTVIRIPAKPGKC->G;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q5HYK7 | 231 | 267 | 232 | 268 | Alternative sequence | ID=VSP_031183;Note=In isoform 3. DPFQLPAKTEPIKERAVQPAPTRKPTVIRIPAKPGKC->G;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q5HYK7 | 231 | 267 | 1 | 790 | Chain | ID=PRO_0000318197;Note=SH3 domain-containing protein 19 |
| Q5HYK7 | 231 | 267 | 1 | 790 | Chain | ID=PRO_0000318197;Note=SH3 domain-containing protein 19 |
| Q5HYK7 | 231 | 267 | 86 | 350 | Compositional bias | Note=Pro-rich |
| Q5HYK7 | 231 | 267 | 86 | 350 | Compositional bias | Note=Pro-rich |
| Q5HYK7 | 231 | 267 | 264 | 264 | Sequence conflict | Note=K->R;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q5HYK7 | 231 | 267 | 264 | 264 | Sequence conflict | Note=K->R;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q5HYK7 | 231 | 267 | 267 | 267 | Sequence conflict | Note=K->E;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q5HYK7 | 231 | 267 | 267 | 267 | Sequence conflict | Note=K->E;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q5HYK7 | 414 | 436 | 415 | 437 | Alternative sequence | ID=VSP_031184;Note=In isoform 2%2C isoform 3 and isoform 5. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334;Dbxref=PMID:14702039,PMID:15489334 |
| Q5HYK7 | 414 | 436 | 415 | 437 | Alternative sequence | ID=VSP_031184;Note=In isoform 2%2C isoform 3 and isoform 5. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334;Dbxref=PMID:14702039,PMID:15489334 |
| Q5HYK7 | 414 | 436 | 1 | 790 | Chain | ID=PRO_0000318197;Note=SH3 domain-containing protein 19 |
| Q5HYK7 | 414 | 436 | 1 | 790 | Chain | ID=PRO_0000318197;Note=SH3 domain-containing protein 19 |
| Q5HYK7 | 414 | 436 | 415 | 477 | Domain | Note=SH3 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00192 |
| Q5HYK7 | 414 | 436 | 415 | 477 | Domain | Note=SH3 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00192 |
Top |
3'-UTR located exon skipping events that lost miRNA binding sites in SH3D19 |
| 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 |
Top |
SNVs in the skipped exons for SH3D19 |
| - 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 |
Top |
AD stage-associated exon skippint events for SH3D19 |
| 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 |
Top |
Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for SH3D19 |
| sQTL information located at the skipped exons. |
| Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
Top |
Correlation with RNA binding proteins (RBPs) for SH3D19 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
Top |
RelatedDrugs for SH3D19 |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
Top |
RelatedDiseases for SH3D19 |
| 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)
|