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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 RAB3GAP1 |
 Gene summary |
| Gene information | Gene symbol | RAB3GAP1 | Gene ID | 22930 |
| Gene name | RAB3 GTPase activating protein catalytic subunit 1 | |
| Synonyms | P130|RAB3GAP|RAB3GAP130|WARBM1 | |
| Cytomap | 2q21.3 | |
| Type of gene | protein-coding | |
| Description | rab3 GTPase-activating protein catalytic subunitRAB3 GTPase activating protein subunit 1 (catalytic)RAB3 GTPase-activating protein 130 kDa subunitrab3-GAP p130 | |
| Modification date | 20180523 | |
| UniProtAcc | Q15042 | |
| Context | PubMed: RAB3GAP1 [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 |
| RAB3GAP1 | GO:0043087 | regulation of GTPase activity | 10859313 |
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Exon skipping events across known transcript of Ensembl for RAB3GAP1 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 RAB3GAP1 |
| 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 RAB3GAP1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_329958 | 2 | 135809999:135810055:135815580:135815656:135848567:135848700 | 135815580:135815656 | ENSG00000115839.13 | ENST00000264158.8,ENST00000442034.1 |
| exon_skip_329961 | 2 | 135815580:135815656:135848567:135848700:135851184:135851263 | 135848567:135848700 | ENSG00000115839.13 | ENST00000264158.8,ENST00000442034.1 |
| exon_skip_329965 | 2 | 135870720:135870840:135872785:135872951:135878388:135878488 | 135872785:135872951 | ENSG00000115839.13 | ENST00000539493.1,ENST00000264158.8,ENST00000442034.1,ENST00000487003.1 |
| exon_skip_329967 | 2 | 135872785:135872951:135878388:135878488:135881734:135881816 | 135878388:135878488 | ENSG00000115839.13 | ENST00000539493.1,ENST00000264158.8,ENST00000442034.1,ENST00000487003.1 |
| exon_skip_329968 | 2 | 135878388:135878488:135881734:135881816:135883750:135883819 | 135881734:135881816 | ENSG00000115839.13 | ENST00000539493.1,ENST00000264158.8,ENST00000442034.1,ENST00000487003.1 |
| exon_skip_329972 | 2 | 135911218:135911446:135920124:135920221:135920317:135920421 | 135920124:135920221 | ENSG00000115839.13 | ENST00000539493.1,ENST00000264158.8,ENST00000442034.1,ENST00000487003.1 |
| exon_skip_329975 | 2 | 135920555:135920671:135922163:135922266:135926114:135926319 | 135922163:135922266 | ENSG00000115839.13 | ENST00000539493.1,ENST00000264158.8,ENST00000487003.1 |
| exon_skip_329976 | 2 | 135922163:135922266:135925262:135925283:135926114:135926319 | 135925262:135925283 | ENSG00000115839.13 | ENST00000442034.1 |
| exon_skip_329977 | 2 | 135926117:135926319:135927303:135927418:135932896:135933158 | 135927303:135927418 | ENSG00000115839.13 | ENST00000539493.1,ENST00000487003.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for RAB3GAP1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_329958 | 2 | 135809999:135810055:135815580:135815656:135848567:135848700 | 135815580:135815656 | ENSG00000115839.13 | ENST00000264158.8,ENST00000442034.1 |
| exon_skip_329961 | 2 | 135815580:135815656:135848567:135848700:135851184:135851263 | 135848567:135848700 | ENSG00000115839.13 | ENST00000264158.8,ENST00000442034.1 |
| exon_skip_329965 | 2 | 135870720:135870840:135872785:135872951:135878388:135878488 | 135872785:135872951 | ENSG00000115839.13 | ENST00000264158.8,ENST00000539493.1,ENST00000442034.1,ENST00000487003.1 |
| exon_skip_329967 | 2 | 135872785:135872951:135878388:135878488:135881734:135881816 | 135878388:135878488 | ENSG00000115839.13 | ENST00000264158.8,ENST00000539493.1,ENST00000442034.1,ENST00000487003.1 |
| exon_skip_329968 | 2 | 135878388:135878488:135881734:135881816:135883750:135883819 | 135881734:135881816 | ENSG00000115839.13 | ENST00000264158.8,ENST00000539493.1,ENST00000442034.1,ENST00000487003.1 |
| exon_skip_329972 | 2 | 135911218:135911446:135920124:135920221:135920317:135920421 | 135920124:135920221 | ENSG00000115839.13 | ENST00000264158.8,ENST00000539493.1,ENST00000442034.1,ENST00000487003.1 |
| exon_skip_329975 | 2 | 135920555:135920671:135922163:135922266:135926114:135926319 | 135922163:135922266 | ENSG00000115839.13 | ENST00000264158.8,ENST00000539493.1,ENST00000487003.1 |
| exon_skip_329976 | 2 | 135922163:135922266:135925262:135925283:135926114:135926319 | 135925262:135925283 | ENSG00000115839.13 | ENST00000442034.1 |
| exon_skip_329977 | 2 | 135926117:135926319:135927303:135927418:135932896:135933158 | 135927303:135927418 | ENSG00000115839.13 | ENST00000539493.1,ENST00000487003.1 |
| 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 RAB3GAP1 |
| 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 |
| ENST00000264158 | 135815580 | 135815656 | Frame-shift |
| ENST00000264158 | 135848567 | 135848700 | Frame-shift |
| ENST00000264158 | 135872785 | 135872951 | Frame-shift |
| ENST00000264158 | 135878388 | 135878488 | Frame-shift |
| ENST00000264158 | 135881734 | 135881816 | Frame-shift |
| ENST00000264158 | 135920124 | 135920221 | Frame-shift |
| ENST00000264158 | 135922163 | 135922266 | Frame-shift |
| 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 |
| ENST00000264158 | 135815580 | 135815656 | Frame-shift |
| ENST00000264158 | 135848567 | 135848700 | Frame-shift |
| ENST00000264158 | 135872785 | 135872951 | Frame-shift |
| ENST00000264158 | 135878388 | 135878488 | Frame-shift |
| ENST00000264158 | 135881734 | 135881816 | Frame-shift |
| ENST00000264158 | 135920124 | 135920221 | Frame-shift |
| ENST00000264158 | 135922163 | 135922266 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for RAB3GAP1 |
| 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 |
| 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 RAB3GAP1 |
| - 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. |
RAB3GAP1_BRCA_exon_skip_329961_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 |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_329965 | 135872786 | 135872951 | 135872809 | 135872809 | Frame_Shift_Del | T | - | p.I169fs |
| LIHC | TCGA-DD-A3A1-01 | exon_skip_329968 | 135881735 | 135881816 | 135881762 | 135881762 | Frame_Shift_Del | T | - | p.V259fs |
| ACC | TCGA-OR-A5JB-01 | exon_skip_329975 | 135922164 | 135922266 | 135922249 | 135922249 | Frame_Shift_Del | T | - | p.F898fs |
| ACC | TCGA-OR-A5JB-01 | exon_skip_329975 | 135922164 | 135922266 | 135922249 | 135922249 | Frame_Shift_Del | T | - | p.L897fs |
| LIHC | TCGA-UB-A7ME-01 | exon_skip_329967 | 135878389 | 135878488 | 135878431 | 135878431 | Nonsense_Mutation | C | T | p.R231* |
| BLCA | TCGA-E7-A7XN-01 | exon_skip_329967 | 135878389 | 135878488 | 135878476 | 135878476 | Nonsense_Mutation | C | T | p.Q246* |
| BRCA | TCGA-C8-A12Y-01 | exon_skip_329961 | 135848568 | 135848700 | 135848702 | 135848702 | Splice_Site | T | C | e4+2 |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-C8-A12Y-01 |
| Cancer type: BRCA | |
| ESID: exon_skip_329961 | |
| Skipped exon start: 135848568 | |
| Skipped exon end: 135848700 | |
| Mutation start: 135848702 | |
| Mutation end: 135848702 | |
| Mutation type: Splice_Site | |
| Reference seq: T | |
| Mutation seq: C | |
| AAchange: e4+2 | |
exon_skip_329961_BRCA_TCGA-C8-A12Y-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 |
| NCIH2172_LUNG | 135815581 | 135815656 | 135815651 | 135815651 | Missense_Mutation | G | A | p.E49K |
| RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 135848568 | 135848700 | 135848581 | 135848581 | Missense_Mutation | C | A | p.S55Y |
| JHUEM7_ENDOMETRIUM | 135848568 | 135848700 | 135848597 | 135848597 | Missense_Mutation | G | T | p.E60D |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 135848568 | 135848700 | 135848598 | 135848598 | Missense_Mutation | A | C | p.K61Q |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 135848568 | 135848700 | 135848599 | 135848599 | Missense_Mutation | A | G | p.K61R |
| NCIH810_LUNG | 135848568 | 135848700 | 135848634 | 135848634 | Missense_Mutation | T | G | p.S73A |
| BICR78_UPPER_AERODIGESTIVE_TRACT | 135848568 | 135848700 | 135848691 | 135848691 | Missense_Mutation | T | G | p.L92V |
| JHUEM7_ENDOMETRIUM | 135872786 | 135872951 | 135872863 | 135872863 | Missense_Mutation | G | A | p.R187Q |
| HEC251_ENDOMETRIUM | 135872786 | 135872951 | 135872874 | 135872874 | Missense_Mutation | G | A | p.E191K |
| GBM001_CENTRAL_NERVOUS_SYSTEM | 135872786 | 135872951 | 135872935 | 135872935 | Missense_Mutation | T | A | p.I211N |
| OVK18_OVARY | 135878389 | 135878488 | 135878432 | 135878432 | Missense_Mutation | G | A | p.R231Q |
| CHL1_SKIN | 135878389 | 135878488 | 135878446 | 135878446 | Missense_Mutation | C | T | p.L236F |
| HMCB_SKIN | 135878389 | 135878488 | 135878446 | 135878446 | Missense_Mutation | C | T | p.L236F |
| DND41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 135878389 | 135878488 | 135878459 | 135878459 | Missense_Mutation | A | G | p.Q240R |
| M14_SKIN | 135922164 | 135922266 | 135922262 | 135922262 | Missense_Mutation | A | G | p.Q902R |
| MDAMB435S_SKIN | 135922164 | 135922266 | 135922262 | 135922262 | Missense_Mutation | A | G | p.Q902R |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for RAB3GAP1 |
| 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 RAB3GAP1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for RAB3GAP1 |
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RelatedDrugs for RAB3GAP1 |
| 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 RAB3GAP1 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
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