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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 RASEF |
 Gene summary |
| Gene information | Gene symbol | RASEF | Gene ID | 158158 |
| Gene name | RAS and EF-hand domain containing | |
| Synonyms | RAB45 | |
| Cytomap | 9q21.32 | |
| Type of gene | protein-coding | |
| Description | ras and EF-hand domain-containing proteinras-related protein Rab-45 | |
| Modification date | 20180519 | |
| UniProtAcc | Q8IZ41 | |
| Context | PubMed: RASEF [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 RASEF 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 RASEF |
| 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 RASEF |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_504461 | 9 | 85605305:85605382:85607820:85607940:85611926:85612041 | 85607820:85607940 | ENSG00000165105.9 | ENST00000376447.3 |
| exon_skip_504464 | 9 | 85615083:85615231:85615347:85615485:85615810:85616045 | 85615347:85615485 | ENSG00000165105.9 | ENST00000376447.3 |
| exon_skip_504465 | 9 | 85620330:85620415:85622351:85622420:85624555:85624671 | 85622351:85622420 | ENSG00000165105.9 | ENST00000376447.3 |
| exon_skip_504469 | 9 | 85624555:85624671:85627348:85627426:85630719:85630815 | 85627348:85627426 | ENSG00000165105.9 | ENST00000376447.3 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for RASEF |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_504465 | 9 | 85620330:85620415:85622351:85622420:85624555:85624671 | 85622351:85622420 | ENSG00000165105.9 | ENST00000376447.3 |
| exon_skip_504469 | 9 | 85624555:85624671:85627348:85627426:85630719:85630815 | 85627348:85627426 | ENSG00000165105.9 | ENST00000376447.3 |
| 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 RASEF |
| 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 |
| ENST00000376447 | 85607820 | 85607940 | In-frame |
| ENST00000376447 | 85615347 | 85615485 | In-frame |
| ENST00000376447 | 85622351 | 85622420 | In-frame |
| ENST00000376447 | 85627348 | 85627426 | 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 |
| ENST00000376447 | 85622351 | 85622420 | In-frame |
| ENST00000376447 | 85627348 | 85627426 | In-frame |
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Infer the effects of exon skipping event on protein functional features for RASEF |
| 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 |
| ENST00000376447 | 5593 | 740 | 85627348 | 85627426 | 1027 | 1104 | 255 | 281 |
| ENST00000376447 | 5593 | 740 | 85622351 | 85622420 | 1221 | 1289 | 320 | 342 |
| ENST00000376447 | 5593 | 740 | 85615347 | 85615485 | 1699 | 1836 | 479 | 525 |
| ENST00000376447 | 5593 | 740 | 85607820 | 85607940 | 2182 | 2301 | 640 | 680 |
| 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 |
| ENST00000376447 | 5593 | 740 | 85627348 | 85627426 | 1027 | 1104 | 255 | 281 |
| ENST00000376447 | 5593 | 740 | 85622351 | 85622420 | 1221 | 1289 | 320 | 342 |
| 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 |
| Q8IZ41 | 255 | 281 | 190 | 740 | Alternative sequence | ID=VSP_027767;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q8IZ41 | 255 | 281 | 1 | 740 | Chain | ID=PRO_0000299577;Note=Ras and EF-hand domain-containing protein |
| Q8IZ41 | 255 | 281 | 175 | 356 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q8IZ41 | 255 | 281 | 262 | 262 | Natural variant | ID=VAR_034858;Note=R->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16015647;Dbxref=dbSNP:rs4146960,PMID:16015647 |
| Q8IZ41 | 320 | 342 | 190 | 740 | Alternative sequence | ID=VSP_027767;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q8IZ41 | 320 | 342 | 1 | 740 | Chain | ID=PRO_0000299577;Note=Ras and EF-hand domain-containing protein |
| Q8IZ41 | 320 | 342 | 175 | 356 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q8IZ41 | 479 | 525 | 190 | 740 | Alternative sequence | ID=VSP_027767;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q8IZ41 | 479 | 525 | 1 | 740 | Chain | ID=PRO_0000299577;Note=Ras and EF-hand domain-containing protein |
| Q8IZ41 | 640 | 680 | 190 | 740 | Alternative sequence | ID=VSP_027767;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q8IZ41 | 640 | 680 | 649 | 654 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2P5S |
| Q8IZ41 | 640 | 680 | 1 | 740 | Chain | ID=PRO_0000299577;Note=Ras and EF-hand domain-containing protein |
| Q8IZ41 | 640 | 680 | 632 | 642 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2P5S |
| Q8IZ41 | 640 | 680 | 656 | 658 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2P5S |
| Q8IZ41 | 640 | 680 | 659 | 664 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2P5S |
| Q8IZ41 | 640 | 680 | 672 | 682 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2P5S |
| Q8IZ41 | 640 | 680 | 654 | 657 | Nucleotide binding | Note=GTP;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| 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 |
| Q8IZ41 | 255 | 281 | 190 | 740 | Alternative sequence | ID=VSP_027767;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q8IZ41 | 255 | 281 | 1 | 740 | Chain | ID=PRO_0000299577;Note=Ras and EF-hand domain-containing protein |
| Q8IZ41 | 255 | 281 | 175 | 356 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q8IZ41 | 255 | 281 | 262 | 262 | Natural variant | ID=VAR_034858;Note=R->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16015647;Dbxref=dbSNP:rs4146960,PMID:16015647 |
| Q8IZ41 | 320 | 342 | 190 | 740 | Alternative sequence | ID=VSP_027767;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q8IZ41 | 320 | 342 | 1 | 740 | Chain | ID=PRO_0000299577;Note=Ras and EF-hand domain-containing protein |
| Q8IZ41 | 320 | 342 | 175 | 356 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
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SNVs in the skipped exons for RASEF |
| - 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_504461 | 85607821 | 85607940 | 85607900 | 85607900 | Frame_Shift_Del | T | - | p.N654fs |
| LIHC | TCGA-BC-A112-01 | exon_skip_504464 | 85615348 | 85615485 | 85615415 | 85615416 | Frame_Shift_Ins | - | G | p.R503fs |
| UCEC | TCGA-AP-A056-01 | exon_skip_504464 | 85615348 | 85615485 | 85615382 | 85615382 | Nonsense_Mutation | G | T | p.S514* |
| UCEC | TCGA-AP-A051-01 | exon_skip_504465 | 85622352 | 85622420 | 85622386 | 85622386 | Nonsense_Mutation | G | A | p.R332* |
| SKCM | TCGA-EE-A2MT-06 | exon_skip_504469 | 85627349 | 85627426 | 85627427 | 85627427 | Splice_Site | C | T | . |
| - 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 |
| SUDHL16_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 85607821 | 85607940 | 85607860 | 85607860 | Missense_Mutation | T | G | p.Q667H |
| OVMIU_OVARY | 85607821 | 85607940 | 85607916 | 85607916 | Missense_Mutation | T | C | p.I649V |
| KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 85607821 | 85607940 | 85607919 | 85607919 | Missense_Mutation | G | T | p.P648T |
| SMZ1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 85607821 | 85607940 | 85607926 | 85607926 | Missense_Mutation | C | A | p.E645D |
| SNU869_BILIARY_TRACT | 85607821 | 85607940 | 85607929 | 85607929 | Missense_Mutation | A | T | p.H644Q |
| SNUC5_LARGE_INTESTINE | 85615348 | 85615485 | 85615355 | 85615355 | Missense_Mutation | G | A | p.S523L |
| AMO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 85615348 | 85615485 | 85615373 | 85615373 | Missense_Mutation | T | A | p.K517M |
| IHH4_THYROID | 85615348 | 85615485 | 85615428 | 85615428 | Missense_Mutation | C | A | p.D499Y |
| EKVX_LUNG | 85615348 | 85615485 | 85615472 | 85615472 | Missense_Mutation | C | A | p.R484M |
| DIPG007_CENTRAL_NERVOUS_SYSTEM | 85627349 | 85627426 | 85627372 | 85627372 | Missense_Mutation | T | C | p.K274E |
| SW684_SOFT_TISSUE | 85627349 | 85627426 | 85627423 | 85627423 | Missense_Mutation | C | T | p.E257K |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for RASEF |
| 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 RASEF |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for RASEF |
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RelatedDrugs for RASEF |
| 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 RASEF |
| 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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