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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 RASA1 |
 Gene summary |
| Gene information | Gene symbol | RASA1 | Gene ID | 5921 |
| Gene name | RAS p21 protein activator 1 | |
| Synonyms | CM-AVM|CMAVM|GAP|PKWS|RASA|RASGAP|p120|p120GAP|p120RASGAP | |
| Cytomap | 5q14.3 | |
| Type of gene | protein-coding | |
| Description | ras GTPase-activating protein 1RAS p21 protein activator (GTPase activating protein) 1p120 RAS GTPase activating proteintriphosphatase-activating protein | |
| Modification date | 20180519 | |
| UniProtAcc | P20936 | |
| Context | PubMed: RASA1 [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 |
| RASA1 | GO:0001953 | negative regulation of cell-matrix adhesion | 8344248 |
| RASA1 | GO:0007162 | negative regulation of cell adhesion | 8344248 |
| RASA1 | GO:0007165 | signal transduction | 1756860 |
| RASA1 | GO:0030833 | regulation of actin filament polymerization | 8344248 |
| RASA1 | GO:0043066 | negative regulation of apoptotic process | 15542850 |
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Exon skipping events across known transcript of Ensembl for RASA1 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 RASA1 |
| 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 RASA1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_436342 | 5 | 86564760:86564872:86564977:86565104:86627164:86627317 | 86564977:86565104 | ENSG00000145715.10 | ENST00000512763.1 |
| exon_skip_436345 | 5 | 86658367:86658488:86659164:86659321:86665629:86665717 | 86659164:86659321 | ENSG00000145715.10 | ENST00000456692.2,ENST00000274376.6,ENST00000506290.1,ENST00000512763.1,ENST00000509953.1 |
| exon_skip_436347 | 5 | 86659164:86659321:86662167:86662312:86665629:86665717 | 86662167:86662312 | ENSG00000145715.10 | ENST00000515800.2 |
| exon_skip_436348 | 5 | 86667934:86668012:86669979:86670137:86670656:86670733 | 86669979:86670137 | ENSG00000145715.10 | ENST00000456692.2,ENST00000274376.6,ENST00000515800.2,ENST00000506290.1,ENST00000512763.1 |
| exon_skip_436350 | 5 | 86669979:86670137:86670656:86670733:86672209:86672382 | 86670656:86670733 | ENSG00000145715.10 | ENST00000456692.2,ENST00000274376.6,ENST00000515800.2,ENST00000506290.1,ENST00000512763.1 |
| exon_skip_436351 | 5 | 86675624:86675667:86676325:86676412:86679529:86679597 | 86676325:86676412 | ENSG00000145715.10 | ENST00000456692.2,ENST00000274376.6,ENST00000515800.2,ENST00000506290.1,ENST00000512763.1 |
| exon_skip_436353 | 5 | 86676356:86676412:86679529:86679597:86681117:86681206 | 86679529:86679597 | ENSG00000145715.10 | ENST00000456692.2,ENST00000274376.6,ENST00000515800.2,ENST00000506290.1,ENST00000512763.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for RASA1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_436342 | 5 | 86564760:86564872:86564977:86565104:86627164:86627317 | 86564977:86565104 | ENSG00000145715.10 | ENST00000512763.1 |
| exon_skip_436345 | 5 | 86658367:86658488:86659164:86659321:86665629:86665717 | 86659164:86659321 | ENSG00000145715.10 | ENST00000274376.6,ENST00000456692.2,ENST00000512763.1,ENST00000506290.1,ENST00000509953.1 |
| exon_skip_436347 | 5 | 86659164:86659321:86662167:86662312:86665629:86665717 | 86662167:86662312 | ENSG00000145715.10 | ENST00000515800.2 |
| exon_skip_436348 | 5 | 86667934:86668012:86669979:86670137:86670656:86670733 | 86669979:86670137 | ENSG00000145715.10 | ENST00000274376.6,ENST00000515800.2,ENST00000456692.2,ENST00000512763.1,ENST00000506290.1 |
| exon_skip_436350 | 5 | 86669979:86670137:86670656:86670733:86672209:86672382 | 86670656:86670733 | ENSG00000145715.10 | ENST00000274376.6,ENST00000515800.2,ENST00000456692.2,ENST00000512763.1,ENST00000506290.1 |
| exon_skip_436351 | 5 | 86675624:86675667:86676325:86676412:86679529:86679597 | 86676325:86676412 | ENSG00000145715.10 | ENST00000274376.6,ENST00000515800.2,ENST00000456692.2,ENST00000512763.1,ENST00000506290.1 |
| exon_skip_436353 | 5 | 86676356:86676412:86679529:86679597:86681117:86681206 | 86679529:86679597 | ENSG00000145715.10 | ENST00000274376.6,ENST00000515800.2,ENST00000456692.2,ENST00000512763.1,ENST00000506290.1 |
| 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 RASA1 |
| 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 |
| ENST00000274376 | 86659164 | 86659321 | Frame-shift |
| ENST00000274376 | 86669979 | 86670137 | Frame-shift |
| ENST00000274376 | 86670656 | 86670733 | Frame-shift |
| ENST00000274376 | 86679529 | 86679597 | Frame-shift |
| ENST00000274376 | 86676325 | 86676412 | 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 |
| ENST00000274376 | 86659164 | 86659321 | Frame-shift |
| ENST00000274376 | 86669979 | 86670137 | Frame-shift |
| ENST00000274376 | 86670656 | 86670733 | Frame-shift |
| ENST00000274376 | 86679529 | 86679597 | Frame-shift |
| ENST00000274376 | 86676325 | 86676412 | In-frame |
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Infer the effects of exon skipping event on protein functional features for RASA1 |
| 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 |
| ENST00000274376 | 3769 | 1047 | 86676325 | 86676412 | 3168 | 3254 | 868 | 896 |
| 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 |
| ENST00000274376 | 3769 | 1047 | 86676325 | 86676412 | 3168 | 3254 | 868 | 896 |
| 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 |
| P20936 | 868 | 896 | 540 | 1047 | Alternative sequence | ID=VSP_057435;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:17974005;Dbxref=PMID:17974005 |
| P20936 | 868 | 896 | 1 | 1047 | Chain | ID=PRO_0000056636;Note=Ras GTPase-activating protein 1 |
| P20936 | 868 | 896 | 748 | 942 | Domain | Note=Ras-GAP;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00167 |
| P20936 | 868 | 896 | 868 | 884 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1WER |
| P20936 | 868 | 896 | 891 | 900 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1WER |
| 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 |
| P20936 | 868 | 896 | 540 | 1047 | Alternative sequence | ID=VSP_057435;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:17974005;Dbxref=PMID:17974005 |
| P20936 | 868 | 896 | 1 | 1047 | Chain | ID=PRO_0000056636;Note=Ras GTPase-activating protein 1 |
| P20936 | 868 | 896 | 748 | 942 | Domain | Note=Ras-GAP;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00167 |
| P20936 | 868 | 896 | 868 | 884 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1WER |
| P20936 | 868 | 896 | 891 | 900 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1WER |
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SNVs in the skipped exons for RASA1 |
| - 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. |
RASA1_BRCA_exon_skip_436348_psi_boxplot.png |
RASA1_HNSC_exon_skip_436351_psi_boxplot.png |
| - 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 |
| UCEC | TCGA-AX-A0IU-01 | exon_skip_436345 | 86659165 | 86659321 | 86659240 | 86659240 | Frame_Shift_Del | A | - | p.E510fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_436348 | 86669980 | 86670137 | 86670027 | 86670027 | Frame_Shift_Del | A | - | p.V431fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_436348 | 86669980 | 86670137 | 86670027 | 86670027 | Frame_Shift_Del | A | - | p.V431fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_436348 | 86669980 | 86670137 | 86670033 | 86670033 | Frame_Shift_Del | T | - | p.H433fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_436348 | 86669980 | 86670137 | 86670104 | 86670104 | Frame_Shift_Del | A | - | p.Q457fs |
| PAAD | TCGA-LB-A7SX-01 | exon_skip_436348 | 86669980 | 86670137 | 86670133 | 86670134 | Frame_Shift_Del | TT | - | p.F467fs |
| LIHC | TCGA-BC-A112-01 | exon_skip_436345 | 86659165 | 86659321 | 86659215 | 86659216 | Frame_Shift_Ins | - | C | p.P325fs |
| COAD | TCGA-AY-6197-01 | exon_skip_436353 | 86679530 | 86679597 | 86679537 | 86679538 | Frame_Shift_Ins | - | T | p.V723fs |
| HNSC | TCGA-CR-6492-01 | exon_skip_436345 | 86659165 | 86659321 | 86659189 | 86659189 | Nonsense_Mutation | T | A | p.L316* |
| HNSC | TCGA-CR-6492-01 | exon_skip_436345 | 86659165 | 86659321 | 86659189 | 86659189 | Nonsense_Mutation | T | A | p.L493* |
| LIHC | TCGA-DD-AAED-01 | exon_skip_436345 | 86659165 | 86659321 | 86659193 | 86659193 | Nonsense_Mutation | T | G | p.Y494X |
| HNSC | TCGA-CV-6959-01 | exon_skip_436345 | 86659165 | 86659321 | 86659245 | 86659245 | Nonsense_Mutation | C | T | p.R335* |
| HNSC | TCGA-CV-6959-01 | exon_skip_436345 | 86659165 | 86659321 | 86659245 | 86659245 | Nonsense_Mutation | C | T | p.R512* |
| STAD | TCGA-FP-7829-01 | exon_skip_436345 | 86659165 | 86659321 | 86659260 | 86659260 | Nonsense_Mutation | A | T | p.K517* |
| STAD | TCGA-FP-7829-01 | exon_skip_436345 | 86659165 | 86659321 | 86659260 | 86659260 | Nonsense_Mutation | A | T | p.K517X |
| THYM | TCGA-XU-A92O-01 | exon_skip_436348 | 86669980 | 86670137 | 86670007 | 86670007 | Nonsense_Mutation | G | T | p.E602X |
| HNSC | TCGA-BB-8601-01 | exon_skip_436351 | 86676326 | 86676412 | 86676366 | 86676366 | Nonsense_Mutation | C | T | p.Q705* |
| BRCA | TCGA-C8-A12M-01 | exon_skip_436348 | 86669980 | 86670137 | 86670139 | 86670140 | Splice_Site | - | A | e14+2 |
| LUSC | TCGA-60-2698-01 | exon_skip_436353 | 86679530 | 86679597 | 86679528 | 86679528 | Splice_Site | A | G | p.S897_splice |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-BB-8601-01 |
| Cancer type: HNSC | |
| ESID: exon_skip_436351 | |
| Skipped exon start: 86676326 | |
| Skipped exon end: 86676412 | |
| Mutation start: 86676366 | |
| Mutation end: 86676366 | |
| Mutation type: Nonsense_Mutation | |
| Reference seq: C | |
| Mutation seq: T | |
| AAchange: p.Q705* | |
exon_skip_436351_HNSC_TCGA-BB-8601-01.png | |
 | Sample: TCGA-C8-A12M-01 |
| Cancer type: BRCA | |
| ESID: exon_skip_436348 | |
| Skipped exon start: 86669980 | |
| Skipped exon end: 86670137 | |
| Mutation start: 86670139 | |
| Mutation end: 86670140 | |
| Mutation type: Splice_Site | |
| Reference seq: - | |
| Mutation seq: A | |
| AAchange: e14+2 | |
exon_skip_436348_BRCA_TCGA-C8-A12M-01.png | |
| - 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 |
| RERFLCKJ_LUNG | 86679530 | 86679597 | 86679550 | 86679550 | Frame_Shift_Del | T | - | p.L904fs |
| JHUEM7_ENDOMETRIUM | 86659165 | 86659321 | 86659183 | 86659183 | Missense_Mutation | A | C | p.K491T |
| ESS1_ENDOMETRIUM | 86669980 | 86670137 | 86670134 | 86670134 | Missense_Mutation | T | C | p.F644S |
| PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 86670657 | 86670733 | 86670701 | 86670701 | Missense_Mutation | A | G | p.N660S |
| NCIH889_LUNG | 86670657 | 86670733 | 86670702 | 86670702 | Missense_Mutation | T | A | p.N660K |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 86676326 | 86676412 | 86676388 | 86676388 | Missense_Mutation | C | A | p.T889N |
| SKUT1_SOFT_TISSUE | 86679530 | 86679597 | 86679547 | 86679547 | Missense_Mutation | G | A | p.R903Q |
| PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 86679530 | 86679597 | 86679568 | 86679568 | Missense_Mutation | T | C | p.L910P |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 86659165 | 86659321 | 86659166 | 86659166 | Splice_Site | C | T | p.G485G |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for RASA1 |
| 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 RASA1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for RASA1 |
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RelatedDrugs for RASA1 |
| 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 RASA1 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| RASA1 | C1842180 | CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION (disorder) | 2 | CTD_human;ORPHANET;UNIPROT |
| RASA1 | C0003857 | Congenital arteriovenous malformation | 1 | CTD_human;HPO |
| RASA1 | C0007137 | Squamous cell carcinoma | 1 | CTD_human |
| RASA1 | C0024667 | Animal Mammary Neoplasms | 1 | CTD_human |
| RASA1 | C0024668 | Mammary Neoplasms, Experimental | 1 | CTD_human |
| RASA1 | C0152013 | Adenocarcinoma of lung (disorder) | 1 | CTD_human |
| RASA1 | C0235752 | Port-Wine Stain | 1 | CTD_human;HPO |
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