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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 RASGRP1 |
 Gene summary |
| Gene information | Gene symbol | RASGRP1 | Gene ID | 10125 |
| Gene name | RAS guanyl releasing protein 1 | |
| Synonyms | CALDAG-GEFI|CALDAG-GEFII|RASGRP|V|hRasGRP1 | |
| Cytomap | 15q14 | |
| Type of gene | protein-coding | |
| Description | RAS guanyl-releasing protein 1RAS guanyl nucleotide-releasing protein 1RAS guanyl releasing protein 1 (calcium and DAG-regulated)calcium and DAG-regulated guanine nucleotide exchange factor IIcalcium- and diacylglycerol-regulated guanine nucleotide ex | |
| Modification date | 20180520 | |
| UniProtAcc | O95267 | |
| Context | PubMed: RASGRP1 [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 |
| RASGRP1 | GO:0001934 | positive regulation of protein phosphorylation | 21968647 |
| RASGRP1 | GO:0090630 | activation of GTPase activity | 10807788 |
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Exon skipping events across known transcript of Ensembl for RASGRP1 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 RASGRP1 |
| 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 RASGRP1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_125966 | 15 | 38782754:38782889:38786582:38786968:38790994:38791147 | 38786582:38786968 | ENSG00000172575.7 | ENST00000558432.1,ENST00000310803.5,ENST00000450598.2,ENST00000561180.1,ENST00000539159.1,ENST00000414708.2 |
| exon_skip_125968 | 15 | 38782754:38782889:38790994:38791147:38792303:38792340 | 38790994:38791147 | ENSG00000172575.7 | ENST00000559830.1 |
| exon_skip_125973 | 15 | 38786652:38786968:38790994:38791147:38792303:38792340 | 38790994:38791147 | ENSG00000172575.7 | ENST00000558432.1,ENST00000310803.5,ENST00000450598.2,ENST00000561180.1,ENST00000539159.1,ENST00000414708.2 |
| exon_skip_125974 | 15 | 38786652:38786968:38790994:38791385:38792303:38792340 | 38790994:38791385 | ENSG00000172575.7 | ENST00000557875.1 |
| exon_skip_125975 | 15 | 38792303:38792340:38793343:38793488:38794512:38794622 | 38793343:38793488 | ENSG00000172575.7 | ENST00000559830.1,ENST00000558432.1,ENST00000558164.1,ENST00000310803.5,ENST00000450598.2,ENST00000561180.1,ENST00000539159.1 |
| exon_skip_125977 | 15 | 38793343:38793488:38793575:38793636:38794512:38794622 | 38793575:38793636 | ENSG00000172575.7 | ENST00000560425.1 |
| exon_skip_125979 | 15 | 38794512:38794622:38795472:38795577:38798040:38798121 | 38795472:38795577 | ENSG00000172575.7 | ENST00000558432.1,ENST00000310803.5,ENST00000561180.1,ENST00000539159.1 |
| exon_skip_125981 | 15 | 38799926:38800202:38803804:38803921:38804983:38805157 | 38803804:38803921 | ENSG00000172575.7 | ENST00000559830.1,ENST00000558432.1,ENST00000558164.1,ENST00000310803.5,ENST00000450598.2,ENST00000561180.1,ENST00000539159.1,ENST00000414708.2 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for RASGRP1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_125966 | 15 | 38782754:38782889:38786582:38786968:38790994:38791147 | 38786582:38786968 | ENSG00000172575.7 | ENST00000310803.5,ENST00000558432.1,ENST00000561180.1,ENST00000539159.1,ENST00000450598.2,ENST00000414708.2 |
| exon_skip_125968 | 15 | 38782754:38782889:38790994:38791147:38792303:38792340 | 38790994:38791147 | ENSG00000172575.7 | ENST00000559830.1 |
| exon_skip_125973 | 15 | 38786652:38786968:38790994:38791147:38792303:38792340 | 38790994:38791147 | ENSG00000172575.7 | ENST00000310803.5,ENST00000558432.1,ENST00000561180.1,ENST00000539159.1,ENST00000450598.2,ENST00000414708.2 |
| exon_skip_125974 | 15 | 38786652:38786968:38790994:38791385:38792303:38792340 | 38790994:38791385 | ENSG00000172575.7 | ENST00000557875.1 |
| exon_skip_125975 | 15 | 38792303:38792340:38793343:38793488:38794512:38794622 | 38793343:38793488 | ENSG00000172575.7 | ENST00000310803.5,ENST00000558432.1,ENST00000561180.1,ENST00000539159.1,ENST00000450598.2,ENST00000559830.1,ENST00000558164.1 |
| exon_skip_125977 | 15 | 38793343:38793488:38793575:38793636:38794512:38794622 | 38793575:38793636 | ENSG00000172575.7 | ENST00000560425.1 |
| exon_skip_125979 | 15 | 38794512:38794622:38795472:38795577:38798040:38798121 | 38795472:38795577 | ENSG00000172575.7 | ENST00000310803.5,ENST00000558432.1,ENST00000561180.1,ENST00000539159.1 |
| exon_skip_125981 | 15 | 38799926:38800202:38803804:38803921:38804983:38805157 | 38803804:38803921 | ENSG00000172575.7 | ENST00000310803.5,ENST00000558432.1,ENST00000561180.1,ENST00000539159.1,ENST00000450598.2,ENST00000559830.1,ENST00000414708.2,ENST00000558164.1 |
| 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 RASGRP1 |
| 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 |
| ENST00000310803 | 38786582 | 38786968 | Frame-shift |
| ENST00000310803 | 38793343 | 38793488 | Frame-shift |
| ENST00000310803 | 38790994 | 38791147 | In-frame |
| ENST00000310803 | 38795472 | 38795577 | In-frame |
| ENST00000310803 | 38803804 | 38803921 | 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 |
| ENST00000310803 | 38786582 | 38786968 | Frame-shift |
| ENST00000310803 | 38793343 | 38793488 | Frame-shift |
| ENST00000310803 | 38790994 | 38791147 | In-frame |
| ENST00000310803 | 38795472 | 38795577 | In-frame |
| ENST00000310803 | 38803804 | 38803921 | In-frame |
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Infer the effects of exon skipping event on protein functional features for RASGRP1 |
| 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 |
| ENST00000310803 | 5040 | 797 | 38803804 | 38803921 | 1028 | 1144 | 283 | 322 |
| ENST00000310803 | 5040 | 797 | 38795472 | 38795577 | 1502 | 1606 | 441 | 476 |
| ENST00000310803 | 5040 | 797 | 38790994 | 38791147 | 1899 | 2051 | 573 | 624 |
| 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 |
| ENST00000310803 | 5040 | 797 | 38803804 | 38803921 | 1028 | 1144 | 283 | 322 |
| ENST00000310803 | 5040 | 797 | 38795472 | 38795577 | 1502 | 1606 | 441 | 476 |
| ENST00000310803 | 5040 | 797 | 38790994 | 38791147 | 1899 | 2051 | 573 | 624 |
| 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 RASGRP1 |
| - 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-G3-A3CJ-01 | exon_skip_125966 | 38786583 | 38786968 | 38786632 | 38786632 | Frame_Shift_Del | T | - | p.K737fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_125966 | 38786583 | 38786968 | 38786637 | 38786637 | Frame_Shift_Del | T | - | p.K735fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_125966 | 38786583 | 38786968 | 38786675 | 38786675 | Frame_Shift_Del | C | - | p.A723fs |
| HNSC | TCGA-CN-5365-01 | exon_skip_125966 | 38786583 | 38786968 | 38786881 | 38786881 | Frame_Shift_Del | C | - | p.G654fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_125973 exon_skip_125968 | 38790995 | 38791147 | 38791122 | 38791122 | Frame_Shift_Del | T | - | p.Q582fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_125974 | 38790995 | 38791385 | 38791122 | 38791122 | Frame_Shift_Del | T | - | p.Q582fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_125975 | 38793344 | 38793488 | 38793364 | 38793364 | Frame_Shift_Del | A | - | p.C555fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_125975 | 38793344 | 38793488 | 38793407 | 38793407 | Frame_Shift_Del | A | - | p.F540fs |
| UCS | TCGA-N7-A4Y0-01 | exon_skip_125979 | 38795473 | 38795577 | 38795505 | 38795505 | Frame_Shift_Del | T | - | p.T466fs |
| PAAD | TCGA-IB-7651-01 | exon_skip_125973 exon_skip_125968 | 38790995 | 38791147 | 38791016 | 38791016 | Nonsense_Mutation | C | A | p.G618* |
| PAAD | TCGA-IB-7651-01 | exon_skip_125973 exon_skip_125968 | 38790995 | 38791147 | 38791016 | 38791016 | Nonsense_Mutation | C | A | p.G618X |
| PAAD | TCGA-IB-7651-01 | exon_skip_125974 | 38790995 | 38791385 | 38791016 | 38791016 | Nonsense_Mutation | C | A | p.G618* |
| PAAD | TCGA-IB-7651-01 | exon_skip_125974 | 38790995 | 38791385 | 38791016 | 38791016 | Nonsense_Mutation | C | A | p.G618X |
| UCEC | TCGA-AP-A051-01 | exon_skip_125973 exon_skip_125968 | 38790995 | 38791147 | 38791088 | 38791088 | Nonsense_Mutation | G | A | p.R594* |
| UCEC | TCGA-AP-A051-01 | exon_skip_125974 | 38790995 | 38791385 | 38791088 | 38791088 | Nonsense_Mutation | G | A | p.R594* |
| UCEC | TCGA-AP-A056-01 | exon_skip_125981 | 38803805 | 38803921 | 38803816 | 38803816 | Nonsense_Mutation | C | A | p.E319* |
| UCEC | TCGA-A5-A0GU-01 | exon_skip_125981 | 38803805 | 38803921 | 38803803 | 38803803 | Splice_Site | A | G | p.K322_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 |
| SKNFI_AUTONOMIC_GANGLIA | 38786583 | 38786968 | 38786625 | 38786627 | In_Frame_Del | CTC | - | p.E739del |
| SKGT2_STOMACH | 38793344 | 38793488 | 38793395 | 38793397 | In_Frame_Del | GAA | - | p.F544del |
| ISHIKAWAHERAKLIO02ER_ENDOMETRIUM | 38786583 | 38786968 | 38786600 | 38786600 | Missense_Mutation | A | G | p.Y748H |
| MM370_SKIN | 38786583 | 38786968 | 38786654 | 38786654 | Missense_Mutation | T | C | p.K730E |
| NCIH841_LUNG | 38786583 | 38786968 | 38786678 | 38786678 | Missense_Mutation | G | A | p.R722W |
| K2_SKIN | 38786583 | 38786968 | 38786687 | 38786687 | Missense_Mutation | C | T | p.V719I |
| HCC2998_LARGE_INTESTINE | 38786583 | 38786968 | 38786860 | 38786860 | Missense_Mutation | G | T | p.S661Y |
| SKN3_UPPER_AERODIGESTIVE_TRACT | 38786583 | 38786968 | 38786913 | 38786913 | Missense_Mutation | C | A | p.E643D |
| NCIH650_LUNG | 38786583 | 38786968 | 38786966 | 38786966 | Missense_Mutation | G | T | p.P626T |
| MEWO_SKIN | 38790995 | 38791385 | 38791076 | 38791076 | Missense_Mutation | G | A | p.P598S |
| MEWO_SKIN | 38790995 | 38791147 | 38791076 | 38791076 | Missense_Mutation | G | A | p.P598S |
| KMS11_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 38793344 | 38793488 | 38793349 | 38793349 | Missense_Mutation | C | T | p.G560R |
| EFO21_OVARY | 38793344 | 38793488 | 38793400 | 38793400 | Missense_Mutation | T | C | p.N543D |
| CORL321_PLEURA | 38803805 | 38803921 | 38803827 | 38803827 | Missense_Mutation | T | C | p.H315R |
| 5637_URINARY_TRACT | 38803805 | 38803921 | 38803864 | 38803864 | Missense_Mutation | G | T | p.H303N |
| H4_CENTRAL_NERVOUS_SYSTEM | 38803805 | 38803921 | 38803913 | 38803913 | Missense_Mutation | G | T | p.H286Q |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for RASGRP1 |
| 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 RASGRP1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for RASGRP1 |
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RelatedDrugs for RASGRP1 |
| 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 RASGRP1 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| RASGRP1 | C0003873 | Rheumatoid Arthritis | 1 | CTD_human |
| RASGRP1 | C0005586 | Bipolar Disorder | 1 | PSYGENET |
| RASGRP1 | C0014175 | Endometriosis | 1 | CTD_human |
| RASGRP1 | C0023467 | Leukemia, Myelocytic, Acute | 1 | CTD_human |
| RASGRP1 | C0024141 | Lupus Erythematosus, Systemic | 1 | CTD_human |
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