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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 RASGRF2 |
 Gene summary |
| Gene information | Gene symbol | RASGRF2 | Gene ID | 5924 |
| Gene name | Ras protein specific guanine nucleotide releasing factor 2 | |
| Synonyms | GRF2|RAS-GRF2 | |
| Cytomap | 5q14.1 | |
| Type of gene | protein-coding | |
| Description | ras-specific guanine nucleotide-releasing factor 2ras guanine nucleotide exchange factor 2 | |
| Modification date | 20180519 | |
| UniProtAcc | O14827 | |
| Context | PubMed: RASGRF2 [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 RASGRF2 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 RASGRF2 |
| 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 RASGRF2 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_436188 | 5 | 80338695:80338802:80363850:80363998:80366310:80366400 | 80363850:80363998 | ENSG00000113319.7 | ENST00000265080.4,ENST00000514946.1,ENST00000503795.1 |
| exon_skip_436191 | 5 | 80404814:80404897:80408428:80408677:80409356:80409739 | 80408428:80408677 | ENSG00000113319.7 | ENST00000265080.4,ENST00000503795.1 |
| exon_skip_436192 | 5 | 80502663:80502724:80503064:80503168:80504172:80504257 | 80503064:80503168 | ENSG00000113319.7 | ENST00000265080.4,ENST00000503795.1 |
| exon_skip_436193 | 5 | 80508184:80508382:80511694:80511774:80513174:80513292 | 80511694:80511774 | ENSG00000113319.7 | ENST00000265080.4 |
| exon_skip_436194 | 5 | 80511694:80511774:80512782:80512813:80513174:80513292 | 80512782:80512813 | ENSG00000113319.7 | ENST00000503795.1 |
| exon_skip_436195 | 5 | 80513174:80513292:80515528:80515597:80521496:80521631 | 80515528:80515597 | ENSG00000113319.7 | ENST00000265080.4,ENST00000503795.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for RASGRF2 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_436188 | 5 | 80338695:80338802:80363850:80363998:80366310:80366400 | 80363850:80363998 | ENSG00000113319.7 | ENST00000265080.4,ENST00000503795.1,ENST00000514946.1 |
| exon_skip_436191 | 5 | 80404814:80404897:80408428:80408677:80409356:80409739 | 80408428:80408677 | ENSG00000113319.7 | ENST00000265080.4,ENST00000503795.1 |
| exon_skip_436192 | 5 | 80502663:80502724:80503064:80503168:80504172:80504257 | 80503064:80503168 | ENSG00000113319.7 | ENST00000265080.4,ENST00000503795.1 |
| exon_skip_436193 | 5 | 80508184:80508382:80511694:80511774:80513174:80513292 | 80511694:80511774 | ENSG00000113319.7 | ENST00000265080.4 |
| exon_skip_436194 | 5 | 80511694:80511774:80512782:80512813:80513174:80513292 | 80512782:80512813 | ENSG00000113319.7 | ENST00000503795.1 |
| exon_skip_436195 | 5 | 80513174:80513292:80515528:80515597:80521496:80521631 | 80515528:80515597 | ENSG00000113319.7 | ENST00000265080.4,ENST00000503795.1 |
| 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 RASGRF2 |
| 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 |
| ENST00000265080 | 80363850 | 80363998 | Frame-shift |
| ENST00000265080 | 80503064 | 80503168 | Frame-shift |
| ENST00000265080 | 80511694 | 80511774 | Frame-shift |
| ENST00000265080 | 80408428 | 80408677 | In-frame |
| ENST00000265080 | 80515528 | 80515597 | 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 |
| ENST00000265080 | 80363850 | 80363998 | Frame-shift |
| ENST00000265080 | 80503064 | 80503168 | Frame-shift |
| ENST00000265080 | 80511694 | 80511774 | Frame-shift |
| ENST00000265080 | 80408428 | 80408677 | In-frame |
| ENST00000265080 | 80515528 | 80515597 | In-frame |
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Infer the effects of exon skipping event on protein functional features for RASGRF2 |
| 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 |
| ENST00000265080 | 8184 | 1237 | 80408428 | 80408677 | 1906 | 2154 | 613 | 695 |
| ENST00000265080 | 8184 | 1237 | 80515528 | 80515597 | 3620 | 3688 | 1184 | 1207 |
| 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 |
| ENST00000265080 | 8184 | 1237 | 80408428 | 80408677 | 1906 | 2154 | 613 | 695 |
| ENST00000265080 | 8184 | 1237 | 80515528 | 80515597 | 3620 | 3688 | 1184 | 1207 |
| 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 |
| O14827 | 613 | 695 | 1 | 1237 | Chain | ID=PRO_0000312863;Note=Ras-specific guanine nucleotide-releasing factor 2 |
| O14827 | 613 | 695 | 635 | 756 | Domain | Note=N-terminal Ras-GEF;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00135 |
| O14827 | 1184 | 1207 | 1 | 1237 | Chain | ID=PRO_0000312863;Note=Ras-specific guanine nucleotide-releasing factor 2 |
| O14827 | 1184 | 1207 | 1002 | 1234 | Domain | Note=Ras-GEF;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00168 |
| 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 |
| O14827 | 613 | 695 | 1 | 1237 | Chain | ID=PRO_0000312863;Note=Ras-specific guanine nucleotide-releasing factor 2 |
| O14827 | 613 | 695 | 635 | 756 | Domain | Note=N-terminal Ras-GEF;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00135 |
| O14827 | 1184 | 1207 | 1 | 1237 | Chain | ID=PRO_0000312863;Note=Ras-specific guanine nucleotide-releasing factor 2 |
| O14827 | 1184 | 1207 | 1002 | 1234 | Domain | Note=Ras-GEF;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00168 |
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SNVs in the skipped exons for RASGRF2 |
| - 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 |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_436188 | 80363851 | 80363998 | 80363862 | 80363862 | Frame_Shift_Del | T | - | p.I136fs |
| LUSC | TCGA-70-6723-01 | exon_skip_436195 | 80515529 | 80515597 | 80515598 | 80515598 | Splice_Site | G | C | p.K1207_splice |
| - 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 |
| MCC13_SKIN | 80363851 | 80363998 | 80363885 | 80363885 | Missense_Mutation | A | T | p.M144L |
| SNU81_LARGE_INTESTINE | 80363851 | 80363998 | 80363887 | 80363887 | Missense_Mutation | G | A | p.M144I |
| HCC2998_LARGE_INTESTINE | 80363851 | 80363998 | 80363900 | 80363900 | Missense_Mutation | C | T | p.H149Y |
| BFTC909_KIDNEY | 80408429 | 80408677 | 80408454 | 80408454 | Missense_Mutation | G | A | p.D622N |
| NCIH510_LUNG | 80408429 | 80408677 | 80408515 | 80408515 | Missense_Mutation | C | G | p.A642G |
| NCIH1944_LUNG | 80408429 | 80408677 | 80408518 | 80408518 | Missense_Mutation | G | T | p.S643I |
| MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 80408429 | 80408677 | 80408526 | 80408526 | Missense_Mutation | C | T | p.R646C |
| CORL32_LUNG | 80408429 | 80408677 | 80408527 | 80408527 | Missense_Mutation | G | T | p.R646L |
| HEC251_ENDOMETRIUM | 80408429 | 80408677 | 80408586 | 80408586 | Missense_Mutation | C | A | p.L666M |
| CW2_LARGE_INTESTINE | 80408429 | 80408677 | 80408595 | 80408595 | Missense_Mutation | T | C | p.Y669H |
| OC316_OVARY | 80408429 | 80408677 | 80408599 | 80408599 | Missense_Mutation | G | A | p.R670H |
| SNU175_LARGE_INTESTINE | 80408429 | 80408677 | 80408599 | 80408599 | Missense_Mutation | G | A | p.R670H |
| OC314_OVARY | 80408429 | 80408677 | 80408599 | 80408599 | Missense_Mutation | G | A | p.R670H |
| CTV1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 80408429 | 80408677 | 80408662 | 80408662 | Missense_Mutation | C | T | p.T691I |
| SNU738_CENTRAL_NERVOUS_SYSTEM | 80503065 | 80503168 | 80503102 | 80503102 | Missense_Mutation | C | G | p.S1002W |
| NO10_CENTRAL_NERVOUS_SYSTEM | 80503065 | 80503168 | 80503102 | 80503102 | Missense_Mutation | C | T | p.S1002L |
| M1203273_SKIN | 80363851 | 80363998 | 80363909 | 80363909 | Nonsense_Mutation | C | T | p.Q152* |
| HEC108_ENDOMETRIUM | 80515529 | 80515597 | 80515530 | 80515530 | Splice_Site | T | C | p.I1185T |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for RASGRF2 |
| 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 RASGRF2 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for RASGRF2 |
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RelatedDrugs for RASGRF2 |
| 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 RASGRF2 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| RASGRF2 | C0001973 | Alcoholic Intoxication, Chronic | 1 | PSYGENET |
| RASGRF2 | C0024667 | Animal Mammary Neoplasms | 1 | CTD_human |
| RASGRF2 | C0024668 | Mammary Neoplasms, Experimental | 1 | CTD_human |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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