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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 RASA3 |
Gene summary |
| Gene information | Gene symbol | RASA3 | Gene ID | 22821 |
| Gene name | RAS p21 protein activator 3 | |
| Synonyms | GAP1IP4BP|GAPIII | |
| Cytomap | 13q34 | |
| Type of gene | protein-coding | |
| Description | ras GTPase-activating protein 3GTPase activating protein IIIGTPase-activating protein 1 family, inositol 1,3,4,5-tetrakisphosphate-binding proteinIns(1,3,4,5)P4-binding proteinins P4-binding protein | |
| Modification date | 20180519 | |
| UniProtAcc | Q14644 | |
| Context | PubMed: RASA3 [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 RASA3 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 RASA3 |
Expression levels of gene isoforms across TCGA. |
Expression levels of gene isoforms across GTEx. |
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Exon skipping events with PSIs in TCGA for RASA3 |
Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_104949 | 13 | 114748437:114748833:114751085:114751269:114757960:114758064 | 114751085:114751269 | ENSG00000185989.9 | ENST00000389544.4,ENST00000334062.7 |
| exon_skip_104951 | 13 | 114766301:114766408:114773008:114773082:114774862:114774940 | 114773008:114773082 | ENSG00000185989.9 | ENST00000389544.4,ENST00000334062.7 |
| exon_skip_104952 | 13 | 114783579:114783728:114784238:114784395:114786879:114786984 | 114784238:114784395 | ENSG00000185989.9 | ENST00000542651.1,ENST00000389544.4,ENST00000334062.7 |
| exon_skip_104953 | 13 | 114793322:114793403:114795286:114795363:114806475:114806570 | 114795286:114795363 | ENSG00000185989.9 | ENST00000389544.4,ENST00000334062.7 |
| exon_skip_104955 | 13 | 114795286:114795363:114806475:114806570:114817526:114817630 | 114806475:114806570 | ENSG00000185989.9 | ENST00000389544.4,ENST00000334062.7 |
| exon_skip_104958 | 13 | 114795286:114795363:114817526:114817630:114839194:114839312 | 114817526:114817630 | ENSG00000185989.9 | ENST00000542651.1 |
| exon_skip_104961 | 13 | 114806475:114806570:114817526:114817630:114839194:114839312 | 114817526:114817630 | ENSG00000185989.9 | ENST00000389544.4,ENST00000334062.7 |
| exon_skip_104966 | 13 | 114817526:114817630:114839194:114839312:114897909:114898027 | 114839194:114839312 | ENSG00000185989.9 | ENST00000542651.1 |
PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for RASA3 |
Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_104949 | 13 | 114748437:114748833:114751085:114751269:114757960:114758064 | 114751085:114751269 | ENSG00000185989.9 | ENST00000334062.7,ENST00000389544.4 |
| exon_skip_104951 | 13 | 114766301:114766408:114773008:114773082:114774862:114774940 | 114773008:114773082 | ENSG00000185989.9 | ENST00000334062.7,ENST00000389544.4 |
| exon_skip_104952 | 13 | 114783579:114783728:114784238:114784395:114786879:114786984 | 114784238:114784395 | ENSG00000185989.9 | ENST00000334062.7,ENST00000389544.4,ENST00000542651.1 |
| exon_skip_104953 | 13 | 114793322:114793403:114795286:114795363:114806475:114806570 | 114795286:114795363 | ENSG00000185989.9 | ENST00000334062.7,ENST00000389544.4 |
| exon_skip_104955 | 13 | 114795286:114795363:114806475:114806570:114817526:114817630 | 114806475:114806570 | ENSG00000185989.9 | ENST00000334062.7,ENST00000389544.4 |
| exon_skip_104958 | 13 | 114795286:114795363:114817526:114817630:114839194:114839312 | 114817526:114817630 | ENSG00000185989.9 | ENST00000542651.1 |
| exon_skip_104961 | 13 | 114806475:114806570:114817526:114817630:114839194:114839312 | 114817526:114817630 | ENSG00000185989.9 | ENST00000334062.7,ENST00000389544.4 |
| exon_skip_104966 | 13 | 114817526:114817630:114839194:114839312:114897909:114898027 | 114839194:114839312 | ENSG00000185989.9 | ENST00000542651.1 |
PSI values of skipped exons in GTEx. |
| * Skipped exon sequences. |
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Open reading frame (ORF) annotation in the exon skipping event for RASA3 |
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 |
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 |
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Infer the effects of exon skipping event on protein functional features for RASA3 |
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 RASA3 |
- Lollipop plot for presenting exon skipping associated SNVs.* Click on the image to enlarge it in a new window. |
- 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-G3-A3CJ-01 | exon_skip_104949 | 114751086 | 114751269 | 114751150 | 114751150 | Frame_Shift_Del | C | - | p.A789fs |
| STAD | TCGA-BR-4256-01 | exon_skip_104949 | 114751086 | 114751269 | 114751195 | 114751195 | Frame_Shift_Del | G | - | p.Q774fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_104949 | 114751086 | 114751269 | 114751205 | 114751205 | Frame_Shift_Del | A | - | p.I770fs |
| LUAD | TCGA-55-1592-01 | exon_skip_104958 exon_skip_104961 | 114817527 | 114817630 | 114817623 | 114817623 | Frame_Shift_Del | A | - | p.Y61fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_104966 | 114839195 | 114839312 | 114839293 | 114839293 | Frame_Shift_Del | G | - | p.P25fs |
| HNSC | TCGA-CV-7253-01 | exon_skip_104966 | 114839195 | 114839312 | 114839224 | 114839225 | Frame_Shift_Ins | - | A | p.*48fs |
| HNSC | TCGA-CV-7253-01 | exon_skip_104966 | 114839195 | 114839312 | 114839224 | 114839225 | Frame_Shift_Ins | - | A | p.F48fs |
| LUAD | TCGA-95-7043-01 | exon_skip_104958 exon_skip_104961 | 114817527 | 114817630 | 114817632 | 114817632 | Splice_Site | T | A | p.C58_splice |
| KIRC | TCGA-G6-A8L6-01 | exon_skip_104966 | 114839195 | 114839312 | 114839194 | 114839194 | Splice_Site | C | T | . |
- 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 |
| NCIH345_LUNG | 114751086 | 114751269 | 114751117 | 114751117 | Missense_Mutation | C | G | p.D800H |
| SNUC2A_LARGE_INTESTINE | 114751086 | 114751269 | 114751149 | 114751149 | Missense_Mutation | G | A | p.A789V |
| SNUC2B_LARGE_INTESTINE | 114751086 | 114751269 | 114751149 | 114751149 | Missense_Mutation | G | A | p.A789V |
| SISO_CERVIX | 114751086 | 114751269 | 114751162 | 114751162 | Missense_Mutation | C | T | p.A785T |
| GRST_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 114751086 | 114751269 | 114751162 | 114751162 | Missense_Mutation | C | T | p.A785T |
| SNU175_LARGE_INTESTINE | 114751086 | 114751269 | 114751198 | 114751198 | Missense_Mutation | G | A | p.P773S |
| JEG3_PLACENTA | 114751086 | 114751269 | 114751202 | 114751202 | Missense_Mutation | G | T | p.D771E |
| ACCS_URINARY_TRACT | 114773009 | 114773082 | 114773025 | 114773025 | Missense_Mutation | T | C | p.I576V |
| KMM1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 114773009 | 114773082 | 114773054 | 114773054 | Missense_Mutation | C | A | p.R566I |
| MEWO_SKIN | 114773009 | 114773082 | 114773066 | 114773066 | Missense_Mutation | G | A | p.S562L |
| SW684_SOFT_TISSUE | 114773009 | 114773082 | 114773066 | 114773066 | Missense_Mutation | G | A | p.S562L |
| SNU1040_LARGE_INTESTINE | 114784239 | 114784395 | 114784249 | 114784249 | Missense_Mutation | G | A | p.A311V |
| HEC59_ENDOMETRIUM | 114784239 | 114784395 | 114784276 | 114784276 | Missense_Mutation | G | T | p.P302H |
| EN_ENDOMETRIUM | 114784239 | 114784395 | 114784282 | 114784282 | Missense_Mutation | T | C | p.Y300C |
| SUPM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 114784239 | 114784395 | 114784285 | 114784285 | Missense_Mutation | T | C | p.Y299C |
| SNB75_CENTRAL_NERVOUS_SYSTEM | 114784239 | 114784395 | 114784303 | 114784303 | Missense_Mutation | T | G | p.H293P |
| DU145_PROSTATE | 114784239 | 114784395 | 114784342 | 114784342 | Missense_Mutation | A | T | p.L280Q |
| TT_THYROID | 114784239 | 114784395 | 114784347 | 114784347 | Missense_Mutation | G | T | p.D278E |
| JHUEM7_ENDOMETRIUM | 114784239 | 114784395 | 114784372 | 114784372 | Missense_Mutation | T | G | p.N270T |
| SNUC4_LARGE_INTESTINE | 114806476 | 114806570 | 114806510 | 114806510 | Missense_Mutation | T | C | p.Q113R |
| LS411N_LARGE_INTESTINE | 114817527 | 114817630 | 114817545 | 114817545 | Missense_Mutation | G | A | p.R87W |
| SW684_SOFT_TISSUE | 114817527 | 114817630 | 114817545 | 114817545 | Missense_Mutation | G | A | p.R87W |
| SW1271_LUNG | 114817527 | 114817630 | 114817580 | 114817580 | Missense_Mutation | T | A | p.H75L |
| SNU81_LARGE_INTESTINE | 114817527 | 114817630 | 114817584 | 114817584 | Missense_Mutation | G | A | p.R74C |
| A2058_SKIN | 114817527 | 114817630 | 114817595 | 114817595 | Missense_Mutation | G | A | p.P70L |
| NCIH2126_LUNG | 114839195 | 114839312 | 114839282 | 114839282 | Missense_Mutation | C | A | p.G29V |
| MHHPREB1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 114839195 | 114839312 | 114839292 | 114839292 | Missense_Mutation | A | G | p.S26P |
| LU134A_LUNG | 114806476 | 114806570 | 114806511 | 114806512 | Nonsense_Mutation | GG | AT | p.112_113FQ>L* |
| JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 114795287 | 114795363 | 114795288 | 114795288 | Splice_Site | G | A | p.R150C |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for RASA3 |
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 RASA3 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for RASA3 |
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RelatedDrugs for RASA3 |
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 RASA3 |
Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |