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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 RABEP2 |
 Gene summary |
| Gene information | Gene symbol | RABEP2 | Gene ID | 79874 |
| Gene name | rabaptin, RAB GTPase binding effector protein 2 | |
| Synonyms | FRA | |
| Cytomap | 16p11.2 | |
| Type of gene | protein-coding | |
| Description | rab GTPase-binding effector protein 2Rabaptin-5 betarabaptin-5beta | |
| Modification date | 20180519 | |
| UniProtAcc | Q9H5N1 | |
| Context | PubMed: RABEP2 [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 RABEP2 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 RABEP2 |
| 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 RABEP2 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_143635 | 16 | 28916260:28916365:28916717:28916834:28917024:28917080 | 28916717:28916834 | ENSG00000177548.8 | ENST00000358201.4,ENST00000544477.1,ENST00000357573.6 |
| exon_skip_143638 | 16 | 28916717:28916834:28917024:28917080:28917187:28917199 | 28917024:28917080 | ENSG00000177548.8 | ENST00000358201.4,ENST00000544477.1 |
| exon_skip_143640 | 16 | 28917024:28917080:28917187:28917199:28917339:28917514 | 28917187:28917199 | ENSG00000177548.8 | ENST00000358201.4,ENST00000544477.1 |
| exon_skip_143642 | 16 | 28917187:28917199:28917339:28917517:28919929:28920085 | 28917339:28917517 | ENSG00000177548.8 | ENST00000358201.4,ENST00000544477.1 |
| exon_skip_143643 | 16 | 28917339:28917517:28919929:28920085:28922208:28922307 | 28919929:28920085 | ENSG00000177548.8 | ENST00000358201.4,ENST00000544477.1,ENST00000357573.6 |
| exon_skip_143645 | 16 | 28922208:28922307:28922404:28922500:28925556:28925905 | 28922404:28922500 | ENSG00000177548.8 | ENST00000358201.4,ENST00000562590.1,ENST00000544477.1 |
| exon_skip_143648 | 16 | 28931106:28931264:28932383:28932534:28935723:28935936 | 28932383:28932534 | ENSG00000177548.8 | ENST00000563577.1 |
| exon_skip_143649 | 16 | 28931106:28931264:28935723:28935936:28936423:28936498 | 28935723:28935936 | ENSG00000177548.8 | ENST00000570030.1,ENST00000561803.1,ENST00000358201.4,ENST00000562590.1,ENST00000564473.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for RABEP2 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_143635 | 16 | 28916260:28916365:28916717:28916834:28917024:28917080 | 28916717:28916834 | ENSG00000177548.8 | ENST00000357573.6,ENST00000358201.4,ENST00000544477.1 |
| exon_skip_143638 | 16 | 28916717:28916834:28917024:28917080:28917187:28917199 | 28917024:28917080 | ENSG00000177548.8 | ENST00000358201.4,ENST00000544477.1 |
| exon_skip_143640 | 16 | 28917024:28917080:28917187:28917199:28917339:28917514 | 28917187:28917199 | ENSG00000177548.8 | ENST00000358201.4,ENST00000544477.1 |
| exon_skip_143642 | 16 | 28917187:28917199:28917339:28917517:28919929:28920085 | 28917339:28917517 | ENSG00000177548.8 | ENST00000358201.4,ENST00000544477.1 |
| exon_skip_143643 | 16 | 28917339:28917517:28919929:28920085:28922208:28922307 | 28919929:28920085 | ENSG00000177548.8 | ENST00000357573.6,ENST00000358201.4,ENST00000544477.1 |
| exon_skip_143645 | 16 | 28922208:28922307:28922404:28922500:28925556:28925905 | 28922404:28922500 | ENSG00000177548.8 | ENST00000358201.4,ENST00000544477.1,ENST00000562590.1 |
| exon_skip_143648 | 16 | 28931106:28931264:28932383:28932534:28935723:28935936 | 28932383:28932534 | ENSG00000177548.8 | ENST00000563577.1 |
| exon_skip_143649 | 16 | 28931106:28931264:28935723:28935936:28936423:28936498 | 28935723:28935936 | ENSG00000177548.8 | ENST00000358201.4,ENST00000562590.1,ENST00000561803.1,ENST00000564473.1,ENST00000570030.1 |
| 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 RABEP2 |
| 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 |
| ENST00000358201 | 28917024 | 28917080 | Frame-shift |
| ENST00000358201 | 28917339 | 28917517 | Frame-shift |
| ENST00000358201 | 28916717 | 28916834 | In-frame |
| ENST00000358201 | 28917187 | 28917199 | In-frame |
| ENST00000358201 | 28919929 | 28920085 | In-frame |
| ENST00000358201 | 28922404 | 28922500 | In-frame |
| ENST00000358201 | 28935723 | 28935936 | 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 |
| ENST00000358201 | 28917024 | 28917080 | Frame-shift |
| ENST00000358201 | 28917339 | 28917517 | Frame-shift |
| ENST00000358201 | 28916717 | 28916834 | In-frame |
| ENST00000358201 | 28917187 | 28917199 | In-frame |
| ENST00000358201 | 28919929 | 28920085 | In-frame |
| ENST00000358201 | 28922404 | 28922500 | In-frame |
| ENST00000358201 | 28935723 | 28935936 | In-frame |
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Infer the effects of exon skipping event on protein functional features for RABEP2 |
| 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 |
| ENST00000358201 | 2838 | 569 | 28935723 | 28935936 | 651 | 863 | 20 | 91 |
| ENST00000358201 | 2838 | 569 | 28922404 | 28922500 | 1484 | 1579 | 298 | 330 |
| ENST00000358201 | 2838 | 569 | 28919929 | 28920085 | 1679 | 1834 | 363 | 415 |
| ENST00000358201 | 2838 | 569 | 28916717 | 28916834 | 2081 | 2197 | 497 | 536 |
| 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 |
| ENST00000358201 | 2838 | 569 | 28935723 | 28935936 | 651 | 863 | 20 | 91 |
| ENST00000358201 | 2838 | 569 | 28922404 | 28922500 | 1484 | 1579 | 298 | 330 |
| ENST00000358201 | 2838 | 569 | 28919929 | 28920085 | 1679 | 1834 | 363 | 415 |
| ENST00000358201 | 2838 | 569 | 28916717 | 28916834 | 2081 | 2197 | 497 | 536 |
| 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 |
| Q9H5N1 | 20 | 91 | 2 | 569 | Chain | ID=PRO_0000187559;Note=Rab GTPase-binding effector protein 2 |
| Q9H5N1 | 20 | 91 | 34 | 187 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9H5N1 | 298 | 330 | 299 | 330 | Alternative sequence | ID=VSP_010458;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q9H5N1 | 298 | 330 | 2 | 569 | Chain | ID=PRO_0000187559;Note=Rab GTPase-binding effector protein 2 |
| Q9H5N1 | 298 | 330 | 289 | 523 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9H5N1 | 363 | 415 | 2 | 569 | Chain | ID=PRO_0000187559;Note=Rab GTPase-binding effector protein 2 |
| Q9H5N1 | 363 | 415 | 289 | 523 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9H5N1 | 497 | 536 | 2 | 569 | Chain | ID=PRO_0000187559;Note=Rab GTPase-binding effector protein 2 |
| Q9H5N1 | 497 | 536 | 289 | 523 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| 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 |
| Q9H5N1 | 20 | 91 | 2 | 569 | Chain | ID=PRO_0000187559;Note=Rab GTPase-binding effector protein 2 |
| Q9H5N1 | 20 | 91 | 34 | 187 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9H5N1 | 298 | 330 | 299 | 330 | Alternative sequence | ID=VSP_010458;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q9H5N1 | 298 | 330 | 2 | 569 | Chain | ID=PRO_0000187559;Note=Rab GTPase-binding effector protein 2 |
| Q9H5N1 | 298 | 330 | 289 | 523 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9H5N1 | 363 | 415 | 2 | 569 | Chain | ID=PRO_0000187559;Note=Rab GTPase-binding effector protein 2 |
| Q9H5N1 | 363 | 415 | 289 | 523 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9H5N1 | 497 | 536 | 2 | 569 | Chain | ID=PRO_0000187559;Note=Rab GTPase-binding effector protein 2 |
| Q9H5N1 | 497 | 536 | 289 | 523 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
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SNVs in the skipped exons for RABEP2 |
| - 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_143643 | 28919930 | 28920085 | 28919983 | 28919983 | Frame_Shift_Del | G | - | p.Q398fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_143643 | 28919930 | 28920085 | 28920010 | 28920010 | Frame_Shift_Del | C | - | p.A389fs |
| KIRC | TCGA-A3-3374-01 | exon_skip_143643 | 28919930 | 28920085 | 28919982 | 28919983 | Frame_Shift_Ins | - | G | p.G398fs |
| BLCA | TCGA-BT-A3PK-01 | exon_skip_143643 | 28919930 | 28920085 | 28919983 | 28919983 | Nonsense_Mutation | G | A | p.Q398* |
| LUAD | TCGA-50-5930-01 | exon_skip_143643 | 28919930 | 28920085 | 28920049 | 28920049 | Nonsense_Mutation | C | A | p.E376* |
| LUAD | TCGA-91-6836-01 | exon_skip_143643 | 28919930 | 28920085 | 28920082 | 28920082 | Nonsense_Mutation | C | A | p.E365* |
| LUSC | TCGA-33-4532-01 | exon_skip_143645 | 28922405 | 28922500 | 28922461 | 28922461 | Nonsense_Mutation | C | A | p.E312* |
| - 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 |
| AN3CA_ENDOMETRIUM | 28919930 | 28920085 | 28919983 | 28919983 | Frame_Shift_Del | G | - | p.Q398fs |
| ISHIKAWAHERAKLIO02ER_ENDOMETRIUM | 28916718 | 28916834 | 28916755 | 28916755 | Missense_Mutation | A | C | p.V524G |
| TCYIK_CERVIX | 28916718 | 28916834 | 28916764 | 28916764 | Missense_Mutation | C | A | p.S521I |
| LS180_LARGE_INTESTINE | 28916718 | 28916834 | 28916788 | 28916788 | Missense_Mutation | C | T | p.R513Q |
| GP5D_LARGE_INTESTINE | 28916718 | 28916834 | 28916816 | 28916816 | Missense_Mutation | G | A | p.L504F |
| JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 28917340 | 28917517 | 28917352 | 28917352 | Missense_Mutation | G | A | p.R471W |
| EFO21_OVARY | 28917340 | 28917517 | 28917393 | 28917393 | Missense_Mutation | G | A | p.T457I |
| EMCBAC1_LUNG | 28917340 | 28917517 | 28917480 | 28917480 | Missense_Mutation | G | A | p.A428V |
| COLO668_LUNG | 28917340 | 28917517 | 28917489 | 28917489 | Missense_Mutation | C | A | p.R425L |
| SNU1040_LARGE_INTESTINE | 28919930 | 28920085 | 28919932 | 28919932 | Missense_Mutation | G | A | p.P415S |
| WM2664_SKIN | 28919930 | 28920085 | 28919997 | 28919997 | Missense_Mutation | G | A | p.P393L |
| WM115_SKIN | 28919930 | 28920085 | 28919997 | 28919997 | Missense_Mutation | G | A | p.P393L |
| TTC709_SOFT_TISSUE | 28919930 | 28920085 | 28920019 | 28920019 | Missense_Mutation | C | T | p.G386R |
| LNCAPCLONEFGC_PROSTATE | 28919930 | 28920085 | 28920039 | 28920039 | Missense_Mutation | C | T | p.R379Q |
| NCIH128_LUNG | 28922405 | 28922500 | 28922463 | 28922463 | Missense_Mutation | C | T | p.R311H |
| PFSK1_CENTRAL_NERVOUS_SYSTEM | 28935724 | 28935936 | 28935859 | 28935859 | Missense_Mutation | G | T | p.L47M |
| KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 28916718 | 28916834 | 28916738 | 28916738 | Nonsense_Mutation | G | A | p.R530* |
| 22RV1_PROSTATE | 28922405 | 28922500 | 28922406 | 28922406 | Splice_Site | T | C | p.Q330R |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for RABEP2 |
| 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 RABEP2 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for RABEP2 |
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RelatedDrugs for RABEP2 |
| 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 RABEP2 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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