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Open reading frame (ORF) annotation in the exon skipping event | |
Splicing Quantitative Trait Loci (sQTLs) in the skipped exons | |
Splicing Quantitative Trait Methylation (sQTM) in the skipped exon | |
Gene summary for RASA2 |
Gene summary |
Gene information | Gene symbol | RASA2 | Gene ID | 5922 |
Gene name | RAS p21 protein activator 2 | |
Synonyms | GAP1M | |
Cytomap | 3q23 | |
Type of gene | protein-coding | |
Description | ras GTPase-activating protein 2GTPase-activating protein 1mGTPase-activating protein of RAS | |
Modification date | 20180519 | |
UniProtAcc | Q15283 | |
Context | PubMed: RASA2 [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 RASA2 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 RASA2 |
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 RASA2 |
Information of exkip skipping event in TCGA. |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_378290 | 3 | 141248549:141248644:141259374:141259451:141272698:141272782 | 141259374:141259451 | ENSG00000155903.7 | ENST00000286364.3,ENST00000452898.1 |
exon_skip_378293 | 3 | 141259374:141259451:141272698:141272782:141274681:141274754 | 141272698:141272782 | ENSG00000155903.7 | ENST00000286364.3,ENST00000452898.1 |
exon_skip_378296 | 3 | 141291988:141292063:141292785:141292909:141295841:141295948 | 141292785:141292909 | ENSG00000155903.7 | ENST00000286364.3,ENST00000452898.1 |
exon_skip_378297 | 3 | 141292785:141292909:141295841:141295948:141299209:141299287 | 141295841:141295948 | ENSG00000155903.7 | ENST00000286364.3,ENST00000452898.1 |
exon_skip_378302 | 3 | 141299209:141299293:141299941:141300019:141304866:141304940 | 141299941:141300019 | ENSG00000155903.7 | ENST00000286364.3,ENST00000452898.1,ENST00000509118.1,ENST00000509032.1 |
exon_skip_378306 | 3 | 141305540:141305597:141308971:141308983:141326519:141326602 | 141308971:141308983 | ENSG00000155903.7 | ENST00000506365.1 |
PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for RASA2 |
Information of exkip skipping event in GTEx |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_378290 | 3 | 141248549:141248644:141259374:141259451:141272698:141272782 | 141259374:141259451 | ENSG00000155903.7 | ENST00000286364.3,ENST00000452898.1 |
exon_skip_378293 | 3 | 141259374:141259451:141272698:141272782:141274681:141274754 | 141272698:141272782 | ENSG00000155903.7 | ENST00000286364.3,ENST00000452898.1 |
exon_skip_378296 | 3 | 141291988:141292063:141292785:141292909:141295841:141295948 | 141292785:141292909 | ENSG00000155903.7 | ENST00000286364.3,ENST00000452898.1 |
exon_skip_378297 | 3 | 141292785:141292909:141295841:141295948:141299209:141299287 | 141295841:141295948 | ENSG00000155903.7 | ENST00000286364.3,ENST00000452898.1 |
exon_skip_378301 | 3 | 141297490:141297596:141298278:141298331:141299209:141299287 | 141298278:141298331 | ENSG00000155903.7 | ENST00000505833.1 |
exon_skip_378302 | 3 | 141299209:141299293:141299941:141300019:141304866:141304940 | 141299941:141300019 | ENSG00000155903.7 | ENST00000286364.3,ENST00000452898.1,ENST00000509118.1,ENST00000509032.1 |
exon_skip_378306 | 3 | 141305540:141305597:141308971:141308983:141326519:141326602 | 141308971:141308983 | ENSG00000155903.7 | ENST00000506365.1 |
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 RASA2 |
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 RASA2 |
Exon skipping at the protein sequence level and followed lost functional features. * Click on the image to enlarge it in a new window. |
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 RASA2 |
- 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 |
LUAD | TCGA-55-8511-01 | exon_skip_378296 | 141292786 | 141292909 | 141292848 | 141292848 | Frame_Shift_Del | C | - | p.C474fs |
LIHC | TCGA-DD-A3A0-01 | exon_skip_378297 | 141295842 | 141295948 | 141295883 | 141295883 | Frame_Shift_Del | T | - | p.F509fs |
LIHC | TCGA-G3-A3CJ-01 | exon_skip_378297 | 141295842 | 141295948 | 141295916 | 141295916 | Frame_Shift_Del | C | - | p.P520fs |
LIHC | TCGA-G3-A3CJ-01 | exon_skip_378297 | 141295842 | 141295948 | 141295924 | 141295924 | Frame_Shift_Del | T | - | p.T522fs |
ESCA | TCGA-V5-AASW-01 | exon_skip_378290 | 141259375 | 141259451 | 141259435 | 141259435 | Nonsense_Mutation | C | T | p.Q171* |
CESC | TCGA-JW-A5VL-01 | exon_skip_378296 | 141292786 | 141292909 | 141292835 | 141292835 | Nonsense_Mutation | C | G | p.S470* |
HNSC | TCGA-CV-6942-01 | exon_skip_378296 | 141292786 | 141292909 | 141292835 | 141292835 | Nonsense_Mutation | C | G | p.S470* |
SKCM | TCGA-GN-A8LK-06 | exon_skip_378297 | 141295842 | 141295948 | 141295856 | 141295856 | Nonsense_Mutation | C | T | p.Q500* |
COAD | TCGA-A6-6141-01 | exon_skip_378290 | 141259375 | 141259451 | 141259374 | 141259374 | Splice_Site | G | A | . |
ESCA | TCGA-IG-A3I8-01 | exon_skip_378302 | 141299942 | 141300019 | 141299941 | 141299941 | Splice_Site | G | 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 |
SW1353_BONE | 141299942 | 141300019 | 141299972 | 141299972 | Frame_Shift_Del | T | - | p.F570fs |
RKO_LARGE_INTESTINE | 141259375 | 141259451 | 141259379 | 141259379 | Missense_Mutation | A | C | p.K152T |
KNS60_CENTRAL_NERVOUS_SYSTEM | 141259375 | 141259451 | 141259415 | 141259415 | Missense_Mutation | C | T | p.T164M |
SNU1040_LARGE_INTESTINE | 141272699 | 141272782 | 141272749 | 141272749 | Missense_Mutation | C | A | p.P193H |
MEWO_SKIN | 141292786 | 141292909 | 141292850 | 141292850 | Missense_Mutation | C | T | p.P475L |
KPNSI9S_AUTONOMIC_GANGLIA | 141295842 | 141295948 | 141295890 | 141295890 | Missense_Mutation | G | A | p.R511H |
HEC1_ENDOMETRIUM | 141299942 | 141300019 | 141300012 | 141300012 | Missense_Mutation | T | C | p.V582A |
LS513_LARGE_INTESTINE | 141272699 | 141272782 | 141272753 | 141272753 | Nonsense_Mutation | T | A | p.Y194* |
HCC1588_LUNG | 141272699 | 141272782 | 141272753 | 141272753 | Nonsense_Mutation | T | A | p.Y194* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for RASA2 |
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 RASA2 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for RASA2 |
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RelatedDrugs for RASA2 |
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 RASA2 |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |
RASA2 | C0025202 | melanoma | 2 | CTD_human |