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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 EIF5 |
 Gene summary |
| Gene information | Gene symbol | EIF5 | Gene ID | 1983 |
| Gene name | eukaryotic translation initiation factor 5 | |
| Synonyms | EIF-5|EIF-5A | |
| Cytomap | 14q32.32 | |
| Type of gene | protein-coding | |
| Description | eukaryotic translation initiation factor 5 | |
| Modification date | 20180522 | |
| UniProtAcc | P55010 | |
| Context | PubMed: EIF5 [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 |
| EIF5 | GO:0006446 | regulation of translational initiation | 22156057 |
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Exon skipping events across known transcript of Ensembl for EIF5 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 EIF5 |
| 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 EIF5 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_110351 | 14 | 103800528:103800597:103800725:103800934:103801989:103802181 | 103800725:103800934 | ENSG00000100664.6 | ENST00000216554.3,ENST00000559249.1 |
| exon_skip_110353 | 14 | 103802132:103802269:103802372:103802454:103803013:103803065 | 103802372:103802454 | ENSG00000100664.6 | ENST00000558265.1,ENST00000558316.1,ENST00000216554.3,ENST00000558551.1,ENST00000558506.1,ENST00000560338.1,ENST00000559532.1,ENST00000392715.2,ENST00000561325.1,ENST00000559130.1 |
| exon_skip_110354 | 14 | 103803100:103803186:103803452:103803564:103804663:103804685 | 103803452:103803564 | ENSG00000100664.6 | ENST00000558265.1,ENST00000216554.3,ENST00000558506.1,ENST00000561439.1,ENST00000392715.2 |
| exon_skip_110355 | 14 | 103805508:103805670:103805975:103806140:103806763:103806898 | 103805975:103806140 | ENSG00000100664.6 | ENST00000216554.3,ENST00000558506.1,ENST00000392715.2 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for EIF5 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_110351 | 14 | 103800528:103800597:103800725:103800934:103801989:103802181 | 103800725:103800934 | ENSG00000100664.6 | ENST00000216554.3,ENST00000559249.1 |
| exon_skip_110353 | 14 | 103802132:103802269:103802372:103802454:103803013:103803065 | 103802372:103802454 | ENSG00000100664.6 | ENST00000216554.3,ENST00000560338.1,ENST00000558316.1,ENST00000558265.1,ENST00000561325.1,ENST00000392715.2,ENST00000559130.1,ENST00000559532.1,ENST00000558506.1,ENST00000558551.1 |
| exon_skip_110354 | 14 | 103803100:103803186:103803452:103803564:103804663:103804685 | 103803452:103803564 | ENSG00000100664.6 | ENST00000216554.3,ENST00000558265.1,ENST00000392715.2,ENST00000558506.1,ENST00000561439.1 |
| exon_skip_110355 | 14 | 103805508:103805670:103805975:103806140:103806763:103806898 | 103805975:103806140 | ENSG00000100664.6 | ENST00000216554.3,ENST00000392715.2,ENST00000558506.1 |
| 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 EIF5 |
| 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 |
| ENST00000216554 | 103800725 | 103800934 | 5UTR-5UTR |
| ENST00000216554 | 103802372 | 103802454 | Frame-shift |
| ENST00000392715 | 103802372 | 103802454 | Frame-shift |
| ENST00000558506 | 103802372 | 103802454 | Frame-shift |
| ENST00000216554 | 103803452 | 103803564 | Frame-shift |
| ENST00000392715 | 103803452 | 103803564 | Frame-shift |
| ENST00000558506 | 103803452 | 103803564 | Frame-shift |
| ENST00000216554 | 103805975 | 103806140 | In-frame |
| ENST00000392715 | 103805975 | 103806140 | In-frame |
| ENST00000558506 | 103805975 | 103806140 | 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 |
| ENST00000216554 | 103800725 | 103800934 | 5UTR-5UTR |
| ENST00000216554 | 103802372 | 103802454 | Frame-shift |
| ENST00000392715 | 103802372 | 103802454 | Frame-shift |
| ENST00000558506 | 103802372 | 103802454 | Frame-shift |
| ENST00000216554 | 103803452 | 103803564 | Frame-shift |
| ENST00000392715 | 103803452 | 103803564 | Frame-shift |
| ENST00000558506 | 103803452 | 103803564 | Frame-shift |
| ENST00000216554 | 103805975 | 103806140 | In-frame |
| ENST00000392715 | 103805975 | 103806140 | In-frame |
| ENST00000558506 | 103805975 | 103806140 | In-frame |
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Infer the effects of exon skipping event on protein functional features for EIF5 |
| 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 |
| ENST00000216554 | 5962 | 431 | 103805975 | 103806140 | 1583 | 1747 | 302 | 357 |
| ENST00000392715 | 3434 | 431 | 103805975 | 103806140 | 1440 | 1604 | 302 | 357 |
| ENST00000558506 | 4401 | 431 | 103805975 | 103806140 | 1819 | 1983 | 302 | 357 |
| 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 |
| ENST00000216554 | 5962 | 431 | 103805975 | 103806140 | 1583 | 1747 | 302 | 357 |
| ENST00000392715 | 3434 | 431 | 103805975 | 103806140 | 1440 | 1604 | 302 | 357 |
| ENST00000558506 | 4401 | 431 | 103805975 | 103806140 | 1819 | 1983 | 302 | 357 |
| 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 |
| P55010 | 302 | 357 | 1 | 431 | Chain | ID=PRO_0000212516;Note=Eukaryotic translation initiation factor 5 |
| P55010 | 302 | 357 | 1 | 431 | Chain | ID=PRO_0000212516;Note=Eukaryotic translation initiation factor 5 |
| P55010 | 302 | 357 | 1 | 431 | Chain | ID=PRO_0000212516;Note=Eukaryotic translation initiation factor 5 |
| P55010 | 302 | 357 | 233 | 392 | Domain | Note=W2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00695 |
| P55010 | 302 | 357 | 233 | 392 | Domain | Note=W2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00695 |
| P55010 | 302 | 357 | 233 | 392 | Domain | Note=W2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00695 |
| P55010 | 302 | 357 | 297 | 304 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2IU1 |
| P55010 | 302 | 357 | 297 | 304 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2IU1 |
| P55010 | 302 | 357 | 297 | 304 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2IU1 |
| P55010 | 302 | 357 | 308 | 324 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2IU1 |
| P55010 | 302 | 357 | 308 | 324 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2IU1 |
| P55010 | 302 | 357 | 308 | 324 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2IU1 |
| P55010 | 302 | 357 | 326 | 329 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2IU1 |
| P55010 | 302 | 357 | 326 | 329 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2IU1 |
| P55010 | 302 | 357 | 326 | 329 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2IU1 |
| P55010 | 302 | 357 | 330 | 332 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2IU1 |
| P55010 | 302 | 357 | 330 | 332 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2IU1 |
| P55010 | 302 | 357 | 330 | 332 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2IU1 |
| P55010 | 302 | 357 | 333 | 342 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2IU1 |
| P55010 | 302 | 357 | 333 | 342 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2IU1 |
| P55010 | 302 | 357 | 333 | 342 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2IU1 |
| P55010 | 302 | 357 | 348 | 356 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2IU1 |
| P55010 | 302 | 357 | 348 | 356 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2IU1 |
| P55010 | 302 | 357 | 348 | 356 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2IU1 |
| P55010 | 302 | 357 | 311 | 311 | Sequence conflict | Note=Q->K;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| P55010 | 302 | 357 | 311 | 311 | Sequence conflict | Note=Q->K;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| P55010 | 302 | 357 | 311 | 311 | Sequence conflict | Note=Q->K;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| 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 |
| P55010 | 302 | 357 | 1 | 431 | Chain | ID=PRO_0000212516;Note=Eukaryotic translation initiation factor 5 |
| P55010 | 302 | 357 | 1 | 431 | Chain | ID=PRO_0000212516;Note=Eukaryotic translation initiation factor 5 |
| P55010 | 302 | 357 | 1 | 431 | Chain | ID=PRO_0000212516;Note=Eukaryotic translation initiation factor 5 |
| P55010 | 302 | 357 | 233 | 392 | Domain | Note=W2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00695 |
| P55010 | 302 | 357 | 233 | 392 | Domain | Note=W2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00695 |
| P55010 | 302 | 357 | 233 | 392 | Domain | Note=W2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00695 |
| P55010 | 302 | 357 | 297 | 304 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2IU1 |
| P55010 | 302 | 357 | 297 | 304 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2IU1 |
| P55010 | 302 | 357 | 297 | 304 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2IU1 |
| P55010 | 302 | 357 | 308 | 324 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2IU1 |
| P55010 | 302 | 357 | 308 | 324 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2IU1 |
| P55010 | 302 | 357 | 308 | 324 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2IU1 |
| P55010 | 302 | 357 | 326 | 329 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2IU1 |
| P55010 | 302 | 357 | 326 | 329 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2IU1 |
| P55010 | 302 | 357 | 326 | 329 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2IU1 |
| P55010 | 302 | 357 | 330 | 332 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2IU1 |
| P55010 | 302 | 357 | 330 | 332 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2IU1 |
| P55010 | 302 | 357 | 330 | 332 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2IU1 |
| P55010 | 302 | 357 | 333 | 342 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2IU1 |
| P55010 | 302 | 357 | 333 | 342 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2IU1 |
| P55010 | 302 | 357 | 333 | 342 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2IU1 |
| P55010 | 302 | 357 | 348 | 356 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2IU1 |
| P55010 | 302 | 357 | 348 | 356 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2IU1 |
| P55010 | 302 | 357 | 348 | 356 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2IU1 |
| P55010 | 302 | 357 | 311 | 311 | Sequence conflict | Note=Q->K;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| P55010 | 302 | 357 | 311 | 311 | Sequence conflict | Note=Q->K;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| P55010 | 302 | 357 | 311 | 311 | Sequence conflict | Note=Q->K;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
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SNVs in the skipped exons for EIF5 |
| - 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_110353 | 103802373 | 103802454 | 103802378 | 103802378 | Frame_Shift_Del | G | - | p.E26fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_110354 | 103803453 | 103803564 | 103803552 | 103803552 | Frame_Shift_Del | A | - | p.K143fs |
| HNSC | TCGA-CN-5369-01 | exon_skip_110355 | 103805976 | 103806140 | 103805991 | 103805991 | Frame_Shift_Del | A | - | p.K308fs |
| HNSC | TCGA-CN-5369-01 | exon_skip_110355 | 103805976 | 103806140 | 103805991 | 103805991 | Frame_Shift_Del | A | - | p.K309fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_110355 | 103805976 | 103806140 | 103805991 | 103805991 | Frame_Shift_Del | A | - | p.K309fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_110355 | 103805976 | 103806140 | 103805991 | 103805991 | Frame_Shift_Del | A | - | p.K309fs |
| LIHC | TCGA-DD-AAVZ-01 | exon_skip_110355 | 103805976 | 103806140 | 103806063 | 103806063 | Nonsense_Mutation | A | T | p.K332X |
| - 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 |
| EGI1_BILIARY_TRACT | 103802373 | 103802454 | 103802388 | 103802388 | Missense_Mutation | A | C | p.N30H |
| SNU81_LARGE_INTESTINE | 103802373 | 103802454 | 103802424 | 103802424 | Missense_Mutation | G | A | p.V42I |
| G292CLONEA141B1_BONE | 103802373 | 103802454 | 103802436 | 103802436 | Missense_Mutation | C | G | p.L46V |
| KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 103802373 | 103802454 | 103802451 | 103802451 | Missense_Mutation | A | G | p.T51A |
| UOK101_KIDNEY | 103803453 | 103803564 | 103803507 | 103803507 | Missense_Mutation | C | G | p.R128G |
| HEC251_ENDOMETRIUM | 103803453 | 103803564 | 103803532 | 103803532 | Missense_Mutation | A | C | p.K136T |
| NCIH630_LARGE_INTESTINE | 103803453 | 103803564 | 103803541 | 103803541 | Missense_Mutation | C | T | p.T139I |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for EIF5 |
| 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 |
| exon_skip_110351 | 14 | 103800528:103800597:103800725:103800934:103801989:103802181 | 103800725:103800934 | ENST00000216554.3,ENST00000559249.1 | COAD | rs111449916 | chr14:103800804 | C/T | 7.41e-04 |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for EIF5 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for EIF5 |
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RelatedDrugs for EIF5 |
| 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 EIF5 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| EIF5 | C0036341 | Schizophrenia | 1 | CTD_human |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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