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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 RASSF2 |
 Gene summary |
| Gene information | Gene symbol | RASSF2 | Gene ID | 9770 |
| Gene name | Ras association domain family member 2 | |
| Synonyms | CENP-34|RASFADIN | |
| Cytomap | 20p13 | |
| Type of gene | protein-coding | |
| Description | ras association domain-containing protein 2Ras association (RalGDS/AF-6) domain family 2Ras association (RalGDS/AF-6) domain family member 2centromere protein 34 | |
| Modification date | 20180519 | |
| UniProtAcc | P50749 | |
| Context | PubMed: RASSF2 [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 |
| RASSF2 | GO:0031954 | positive regulation of protein autophosphorylation | 19962960 |
| RASSF2 | GO:0033137 | negative regulation of peptidyl-serine phosphorylation | 19962960 |
| RASSF2 | GO:0043065 | positive regulation of apoptotic process | 19962960 |
| RASSF2 | GO:0045860 | positive regulation of protein kinase activity | 19962960 |
| RASSF2 | GO:0046330 | positive regulation of JNK cascade | 19962960 |
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Exon skipping events across known transcript of Ensembl for RASSF2 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 RASSF2 |
| 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 RASSF2 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_354648 | 20 | 4768862:4768914:4770241:4770343:4771096:4771257 | 4770241:4770343 | ENSG00000101265.11 | ENST00000478553.1,ENST00000379376.2,ENST00000379400.3 |
| exon_skip_354650 | 20 | 4771096:4771257:4773184:4773273:4776460:4776612 | 4773184:4773273 | ENSG00000101265.11 | ENST00000379376.2,ENST00000379400.3 |
| exon_skip_354657 | 20 | 4781617:4781708:4802974:4803049:4804202:4804291 | 4802974:4803049 | ENSG00000101265.11 | ENST00000379400.3 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for RASSF2 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_354648 | 20 | 4768862:4768914:4770241:4770343:4771096:4771257 | 4770241:4770343 | ENSG00000101265.11 | ENST00000478553.1,ENST00000379400.3,ENST00000379376.2 |
| exon_skip_354650 | 20 | 4771096:4771257:4773184:4773273:4776460:4776612 | 4773184:4773273 | ENSG00000101265.11 | ENST00000379400.3,ENST00000379376.2 |
| exon_skip_354657 | 20 | 4781617:4781708:4802974:4803049:4804202:4804291 | 4802974:4803049 | ENSG00000101265.11 | ENST00000379400.3 |
| 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 RASSF2 |
| 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 |
| ENST00000379400 | 4802974 | 4803049 | 3UTR-3UTR |
| ENST00000379376 | 4773184 | 4773273 | Frame-shift |
| ENST00000379400 | 4773184 | 4773273 | Frame-shift |
| ENST00000379376 | 4770241 | 4770343 | In-frame |
| ENST00000379400 | 4770241 | 4770343 | 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 |
| ENST00000379400 | 4802974 | 4803049 | 3UTR-3UTR |
| ENST00000379376 | 4773184 | 4773273 | Frame-shift |
| ENST00000379400 | 4773184 | 4773273 | Frame-shift |
| ENST00000379376 | 4770241 | 4770343 | In-frame |
| ENST00000379400 | 4770241 | 4770343 | In-frame |
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Infer the effects of exon skipping event on protein functional features for RASSF2 |
| 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 |
| ENST00000379376 | 5299 | 326 | 4770241 | 4770343 | 592 | 693 | 179 | 213 |
| ENST00000379400 | 5444 | 326 | 4770241 | 4770343 | 734 | 835 | 179 | 213 |
| 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 |
| ENST00000379376 | 5299 | 326 | 4770241 | 4770343 | 592 | 693 | 179 | 213 |
| ENST00000379400 | 5444 | 326 | 4770241 | 4770343 | 734 | 835 | 179 | 213 |
| 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 |
| P50749 | 179 | 213 | 1 | 326 | Chain | ID=PRO_0000097172;Note=Ras association domain-containing protein 2 |
| P50749 | 179 | 213 | 1 | 326 | Chain | ID=PRO_0000097172;Note=Ras association domain-containing protein 2 |
| P50749 | 179 | 213 | 176 | 264 | Domain | Note=Ras-associating;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00166 |
| P50749 | 179 | 213 | 176 | 264 | Domain | Note=Ras-associating;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00166 |
| 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 |
| P50749 | 179 | 213 | 1 | 326 | Chain | ID=PRO_0000097172;Note=Ras association domain-containing protein 2 |
| P50749 | 179 | 213 | 1 | 326 | Chain | ID=PRO_0000097172;Note=Ras association domain-containing protein 2 |
| P50749 | 179 | 213 | 176 | 264 | Domain | Note=Ras-associating;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00166 |
| P50749 | 179 | 213 | 176 | 264 | Domain | Note=Ras-associating;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00166 |
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SNVs in the skipped exons for RASSF2 |
| - 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 |
| PAAD | TCGA-IB-7652-01 | exon_skip_354648 | 4770242 | 4770343 | 4770321 | 4770339 | Frame_Shift_Del | TAGGCTGGTGTGAACACGG | - | p.181_187del |
| PAAD | TCGA-IB-7652-01 | exon_skip_354648 | 4770242 | 4770343 | 4770321 | 4770339 | Frame_Shift_Del | TAGGCTGGTGTGAACACGG | - | p.SVFTPAY181fs |
| - 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 |
| HARA_LUNG | 4770242 | 4770343 | 4770272 | 4770272 | Missense_Mutation | C | A | p.Q203H |
| HCC2450_LUNG | 4770242 | 4770343 | 4770296 | 4770296 | Missense_Mutation | G | C | p.I195M |
| NCIH522_LUNG | 4770242 | 4770343 | 4770321 | 4770321 | Missense_Mutation | T | A | p.Y187F |
| S117_SOFT_TISSUE | 4773185 | 4773273 | 4773254 | 4773254 | Missense_Mutation | T | A | p.T103S |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for RASSF2 |
| 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 RASSF2 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for RASSF2 |
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RelatedDrugs for RASSF2 |
| 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 RASSF2 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| RASSF2 | C0024232 | Lymphatic Metastasis | 1 | CTD_human |
| RASSF2 | C0027439 | Nasopharyngeal Neoplasms | 1 | CTD_human |
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