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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 GAB3 |
 Gene summary |
| Gene information | Gene symbol | GAB3 | Gene ID | 139716 |
| Gene name | GRB2 associated binding protein 3 | |
| Synonyms | - | |
| Cytomap | Xq28 | |
| Type of gene | protein-coding | |
| Description | GRB2-associated-binding protein 3DOS/Gab family member 3GRB2-associated binder 3Gab3 scaffolding proteingrowth factor receptor bound protein 2-associated protein 3 | |
| Modification date | 20180519 | |
| UniProtAcc | Q8WWW8 | |
| Context | PubMed: GAB3 [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 GAB3 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 GAB3 |
| 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 GAB3 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_517746 | X | 153906566:153906571:153908408:153908525:153924191:153924294 | 153908408:153908525 | ENSG00000160219.7 | ENST00000496390.1,ENST00000424127.2,ENST00000475685.1,ENST00000369575.3 |
| exon_skip_517748 | X | 153928278:153928334:153940503:153940976:153941481:153941701 | 153940503:153940976 | ENSG00000160219.7 | ENST00000369568.4,ENST00000424127.2,ENST00000369575.3 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for GAB3 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_517746 | X | 153906566:153906571:153908408:153908525:153924191:153924294 | 153908408:153908525 | ENSG00000160219.7 | ENST00000496390.1,ENST00000369575.3,ENST00000424127.2,ENST00000475685.1 |
| exon_skip_517748 | X | 153928278:153928334:153940503:153940976:153941481:153941701 | 153940503:153940976 | ENSG00000160219.7 | ENST00000369575.3,ENST00000369568.4,ENST00000424127.2 |
| 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 GAB3 |
| 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 |
| ENST00000369575 | 153940503 | 153940976 | Frame-shift |
| ENST00000369575 | 153908408 | 153908525 | 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 |
| ENST00000369575 | 153940503 | 153940976 | Frame-shift |
| ENST00000369575 | 153908408 | 153908525 | In-frame |
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Infer the effects of exon skipping event on protein functional features for GAB3 |
| 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 |
| ENST00000369575 | 4735 | 586 | 153908408 | 153908525 | 1560 | 1676 | 509 | 548 |
| 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 |
| ENST00000369575 | 4735 | 586 | 153908408 | 153908525 | 1560 | 1676 | 509 | 548 |
| 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 |
| Q8WWW8 | 509 | 548 | 510 | 548 | Alternative sequence | ID=VSP_055259;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q8WWW8 | 509 | 548 | 1 | 586 | Chain | ID=PRO_0000318939;Note=GRB2-associated-binding protein 3 |
| 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 |
| Q8WWW8 | 509 | 548 | 510 | 548 | Alternative sequence | ID=VSP_055259;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q8WWW8 | 509 | 548 | 1 | 586 | Chain | ID=PRO_0000318939;Note=GRB2-associated-binding protein 3 |
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SNVs in the skipped exons for GAB3 |
| - 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 |
| LUAD | TCGA-69-A59K-01 | exon_skip_517746 | 153908409 | 153908525 | 153908478 | 153908490 | Frame_Shift_Del | CCACGTAAGGGCA | - | p.GALTW521fs |
| SKCM | TCGA-D3-A3C7-06 | exon_skip_517746 | 153908409 | 153908525 | 153908454 | 153908454 | Nonsense_Mutation | A | T | p.Y533* |
| SKCM | TCGA-D3-A3C7-06 | exon_skip_517746 | 153908409 | 153908525 | 153908454 | 153908454 | Nonsense_Mutation | A | T | p.Y534X |
| BLCA | TCGA-E7-A541-01 | exon_skip_517748 | 153940504 | 153940976 | 153940813 | 153940813 | Nonsense_Mutation | G | A | p.Q253* |
| UCEC | TCGA-D1-A16Y-01 | exon_skip_517746 | 153908409 | 153908525 | 153908408 | 153908408 | Splice_Site | C | T | e9+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 |
| MDAMB361_BREAST | 153908409 | 153908525 | 153908459 | 153908459 | Missense_Mutation | C | G | p.D532H |
| HCC2998_LARGE_INTESTINE | 153908409 | 153908525 | 153908515 | 153908515 | Missense_Mutation | C | T | p.R513Q |
| PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 153940504 | 153940976 | 153940609 | 153940609 | Missense_Mutation | G | A | p.R321C |
| IGR1_SKIN | 153940504 | 153940976 | 153940734 | 153940734 | Missense_Mutation | G | A | p.S279F |
| PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 153940504 | 153940976 | 153940794 | 153940794 | Missense_Mutation | C | T | p.S259N |
| NCIH630_LARGE_INTESTINE | 153940504 | 153940976 | 153940836 | 153940836 | Missense_Mutation | T | G | p.Q245P |
| AN3CA_ENDOMETRIUM | 153940504 | 153940976 | 153940888 | 153940888 | Missense_Mutation | G | A | p.P228S |
| ATN1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 153940504 | 153940976 | 153940908 | 153940908 | Missense_Mutation | A | C | p.V221G |
| NCIH510_LUNG | 153908409 | 153908525 | 153908522 | 153908522 | Nonsense_Mutation | C | A | p.E511* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for GAB3 |
| 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 GAB3 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for GAB3 |
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RelatedDrugs for GAB3 |
| 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 GAB3 |
| 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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