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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 SH3GL3 |
 Gene summary |
| Gene information | Gene symbol | SH3GL3 | Gene ID | 6457 |
| Gene name | SH3 domain containing GRB2 like 3, endophilin A3 | |
| Synonyms | CNSA3|EEN-B2|HsT19371|SH3D2C|SH3P13 | |
| Cytomap | 15q25.2 | |
| Type of gene | protein-coding | |
| Description | endophilin-A3SH3 domain containing GRB2 like endophilin A3SH3 domain protein 2CSH3 domain-containing GRB2-like protein 3SH3-domain GRB2-like 3endophilin-3 | |
| Modification date | 20180522 | |
| UniProtAcc | Q99963 | |
| Context | PubMed: SH3GL3 [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 SH3GL3 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 SH3GL3 |
| 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 SH3GL3 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_124328 | 15 | 84237287:84237424:84241316:84241450:84245334:84245493 | 84241316:84241450 | ENSG00000140600.12 | ENST00000427482.2,ENST00000324537.5,ENST00000563901.1,ENST00000535412.1,ENST00000434347.1 |
| exon_skip_124329 | 15 | 84245334:84245493:84255734:84255838:84257413:84257523 | 84255734:84255838 | ENSG00000140600.12 | ENST00000427482.2,ENST00000324537.5,ENST00000563901.1,ENST00000535412.1,ENST00000434347.1 |
| exon_skip_124332 | 15 | 84257413:84257523:84278021:84278218:84286833:84287057 | 84278021:84278218 | ENSG00000140600.12 | ENST00000535412.1 |
| exon_skip_124334 | 15 | 84278154:84278218:84280169:84280339:84286833:84287057 | 84280169:84280339 | ENSG00000140600.12 | ENST00000467735.2 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for SH3GL3 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_124328 | 15 | 84237287:84237424:84241316:84241450:84245334:84245493 | 84241316:84241450 | ENSG00000140600.12 | ENST00000427482.2,ENST00000563901.1,ENST00000535412.1,ENST00000324537.5,ENST00000434347.1 |
| exon_skip_124329 | 15 | 84245334:84245493:84255734:84255838:84257413:84257523 | 84255734:84255838 | ENSG00000140600.12 | ENST00000427482.2,ENST00000563901.1,ENST00000535412.1,ENST00000324537.5,ENST00000434347.1 |
| exon_skip_124332 | 15 | 84257413:84257523:84278021:84278218:84286833:84287057 | 84278021:84278218 | ENSG00000140600.12 | ENST00000535412.1 |
| exon_skip_124334 | 15 | 84278154:84278218:84280169:84280339:84286833:84287057 | 84280169:84280339 | ENSG00000140600.12 | ENST00000467735.2 |
| 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 SH3GL3 |
| 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 |
| ENST00000427482 | 84241316 | 84241450 | Frame-shift |
| ENST00000427482 | 84255734 | 84255838 | Frame-shift |
| 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 |
| ENST00000427482 | 84241316 | 84241450 | Frame-shift |
| ENST00000427482 | 84255734 | 84255838 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for SH3GL3 |
| 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 |
| 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 |
| 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 |
| 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 |
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SNVs in the skipped exons for SH3GL3 |
| - 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 |
| STAD | TCGA-BR-8361-01 | exon_skip_124328 | 84241317 | 84241450 | 84241366 | 84241367 | Frame_Shift_Ins | - | A | p.V127fs |
| STAD | TCGA-BR-8361-01 | exon_skip_124328 | 84241317 | 84241450 | 84241367 | 84241368 | Frame_Shift_Ins | - | A | p.V127fs |
| BRCA | TCGA-C8-A27B-01 | exon_skip_124328 | 84241317 | 84241450 | 84241415 | 84241415 | Nonsense_Mutation | C | T | p.Q144* |
| UCEC | TCGA-AP-A0LM-01 | exon_skip_124328 | 84241317 | 84241450 | 84241451 | 84241451 | Splice_Site | G | T | e5+1 |
| - 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 |
| U118MG_CENTRAL_NERVOUS_SYSTEM | 84241317 | 84241450 | 84241323 | 84241323 | Missense_Mutation | C | A | p.A113E |
| KARPAS422_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 84241317 | 84241450 | 84241332 | 84241332 | Missense_Mutation | A | G | p.E116G |
| NCIH1793_LUNG | 84255735 | 84255838 | 84255831 | 84255831 | Nonsense_Mutation | C | T | p.Q241* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for SH3GL3 |
| 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 SH3GL3 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for SH3GL3 |
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RelatedDrugs for SH3GL3 |
| 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 SH3GL3 |
| 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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