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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 EIF4A3 |
 Gene summary |
| Gene information | Gene symbol | EIF4A3 | Gene ID | 9775 |
| Gene name | eukaryotic translation initiation factor 4A3 | |
| Synonyms | DDX48|Fal1|MUK34|NMP265|NUK34|RCPS|eIF4AIII | |
| Cytomap | 17q25.3 | |
| Type of gene | protein-coding | |
| Description | eukaryotic initiation factor 4A-IIIATP-dependent RNA helicase DDX48ATP-dependent RNA helicase eIF4A-3DEAD (Asp-Glu-Ala-Asp) box polypeptide 48DEAD box protein 48NMP 265eIF-4A-IIIeIF4A-IIIeukaryotic initiation factor 4A-like NUK-34eukaryotic trans | |
| Modification date | 20180522 | |
| UniProtAcc | P38919 | |
| Context | PubMed: EIF4A3 [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 |
| EIF4A3 | GO:0017148 | negative regulation of translation | 10523622 |
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Exon skipping events across known transcript of Ensembl for EIF4A3 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 EIF4A3 |
| 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 EIF4A3 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_294234 | 17 | 78109802:78109930:78110026:78110134:78111184:78111300 | 78110026:78110134 | ENSG00000141543.5 | ENST00000576573.1,ENST00000269349.3 |
| exon_skip_294235 | 17 | 78112819:78112961:78113468:78113549:78113806:78113939 | 78113468:78113549 | ENSG00000141543.5 | ENST00000269349.3 |
| exon_skip_294237 | 17 | 78113873:78113939:78115117:78115180:78115580:78115647 | 78115117:78115180 | ENSG00000141543.5 | ENST00000269349.3 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for EIF4A3 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_294234 | 17 | 78109802:78109930:78110026:78110134:78111184:78111300 | 78110026:78110134 | ENSG00000141543.5 | ENST00000269349.3,ENST00000576573.1 |
| exon_skip_294235 | 17 | 78112819:78112961:78113468:78113549:78113806:78113939 | 78113468:78113549 | ENSG00000141543.5 | ENST00000269349.3 |
| exon_skip_294237 | 17 | 78113873:78113939:78115117:78115180:78115580:78115647 | 78115117:78115180 | ENSG00000141543.5 | ENST00000269349.3 |
| 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 EIF4A3 |
| 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 |
| ENST00000269349 | 78110026 | 78110134 | In-frame |
| ENST00000269349 | 78113468 | 78113549 | In-frame |
| ENST00000269349 | 78115117 | 78115180 | 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 |
| ENST00000269349 | 78110026 | 78110134 | In-frame |
| ENST00000269349 | 78113468 | 78113549 | In-frame |
| ENST00000269349 | 78115117 | 78115180 | In-frame |
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Infer the effects of exon skipping event on protein functional features for EIF4A3 |
| 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 |
| ENST00000269349 | 1751 | 411 | 78115117 | 78115180 | 532 | 594 | 103 | 124 |
| ENST00000269349 | 1751 | 411 | 78113468 | 78113549 | 728 | 808 | 168 | 195 |
| ENST00000269349 | 1751 | 411 | 78110026 | 78110134 | 1206 | 1313 | 328 | 363 |
| 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 |
| ENST00000269349 | 1751 | 411 | 78115117 | 78115180 | 532 | 594 | 103 | 124 |
| ENST00000269349 | 1751 | 411 | 78113468 | 78113549 | 728 | 808 | 168 | 195 |
| ENST00000269349 | 1751 | 411 | 78110026 | 78110134 | 1206 | 1313 | 328 | 363 |
| 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 |
| P38919 | 103 | 124 | 102 | 104 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2J0U |
| P38919 | 103 | 124 | 109 | 112 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4C9B |
| P38919 | 103 | 124 | 1 | 411 | Chain | ID=PRO_0000423267;Note=Eukaryotic initiation factor 4A-III |
| P38919 | 103 | 124 | 2 | 411 | Chain | ID=PRO_0000054942;Note=Eukaryotic initiation factor 4A-III%2C N-terminally processed |
| P38919 | 103 | 124 | 69 | 239 | Domain | Note=Helicase ATP-binding;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00541 |
| P38919 | 103 | 124 | 116 | 129 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4C9B |
| P38919 | 103 | 124 | 124 | 124 | Modified residue | Note=N6-acetyllysine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P60842 |
| P38919 | 168 | 195 | 183 | 186 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4C9B |
| P38919 | 168 | 195 | 1 | 411 | Chain | ID=PRO_0000423267;Note=Eukaryotic initiation factor 4A-III |
| P38919 | 168 | 195 | 2 | 411 | Chain | ID=PRO_0000054942;Note=Eukaryotic initiation factor 4A-III%2C N-terminally processed |
| P38919 | 168 | 195 | 69 | 239 | Domain | Note=Helicase ATP-binding;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00541 |
| P38919 | 168 | 195 | 164 | 172 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4C9B |
| P38919 | 168 | 195 | 189 | 195 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4C9B |
| P38919 | 168 | 195 | 187 | 190 | Motif | Note=DEAD box;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| P38919 | 328 | 363 | 329 | 333 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4C9B |
| P38919 | 328 | 363 | 338 | 340 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2J0S |
| P38919 | 328 | 363 | 346 | 353 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4C9B |
| P38919 | 328 | 363 | 356 | 358 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4C9B |
| P38919 | 328 | 363 | 342 | 342 | Binding site | Note=ATP;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000244|PDB:2HYI,ECO:0000244|PDB:2J0Q,ECO:0000244|PDB:2J0S,ECO:0000244|PDB:2XB2,ECO:0000244|PDB:3EX7,ECO:0000269|PubMed:169 |
| P38919 | 328 | 363 | 1 | 411 | Chain | ID=PRO_0000423267;Note=Eukaryotic initiation factor 4A-III |
| P38919 | 328 | 363 | 2 | 411 | Chain | ID=PRO_0000054942;Note=Eukaryotic initiation factor 4A-III%2C N-terminally processed |
| P38919 | 328 | 363 | 250 | 411 | Domain | Note=Helicase C-terminal;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00542 |
| P38919 | 328 | 363 | 335 | 337 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2J0S |
| P38919 | 328 | 363 | 360 | 365 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4C9B |
| P38919 | 328 | 363 | 334 | 334 | Mutagenesis | Note=Reduced incorporation into EJCs. T->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23236153;Dbxref=PMID:23236153 |
| 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 |
| P38919 | 103 | 124 | 102 | 104 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2J0U |
| P38919 | 103 | 124 | 109 | 112 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4C9B |
| P38919 | 103 | 124 | 1 | 411 | Chain | ID=PRO_0000423267;Note=Eukaryotic initiation factor 4A-III |
| P38919 | 103 | 124 | 2 | 411 | Chain | ID=PRO_0000054942;Note=Eukaryotic initiation factor 4A-III%2C N-terminally processed |
| P38919 | 103 | 124 | 69 | 239 | Domain | Note=Helicase ATP-binding;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00541 |
| P38919 | 103 | 124 | 116 | 129 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4C9B |
| P38919 | 103 | 124 | 124 | 124 | Modified residue | Note=N6-acetyllysine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P60842 |
| P38919 | 168 | 195 | 183 | 186 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4C9B |
| P38919 | 168 | 195 | 1 | 411 | Chain | ID=PRO_0000423267;Note=Eukaryotic initiation factor 4A-III |
| P38919 | 168 | 195 | 2 | 411 | Chain | ID=PRO_0000054942;Note=Eukaryotic initiation factor 4A-III%2C N-terminally processed |
| P38919 | 168 | 195 | 69 | 239 | Domain | Note=Helicase ATP-binding;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00541 |
| P38919 | 168 | 195 | 164 | 172 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4C9B |
| P38919 | 168 | 195 | 189 | 195 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4C9B |
| P38919 | 168 | 195 | 187 | 190 | Motif | Note=DEAD box;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| P38919 | 328 | 363 | 329 | 333 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4C9B |
| P38919 | 328 | 363 | 338 | 340 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2J0S |
| P38919 | 328 | 363 | 346 | 353 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4C9B |
| P38919 | 328 | 363 | 356 | 358 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4C9B |
| P38919 | 328 | 363 | 342 | 342 | Binding site | Note=ATP;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000244|PDB:2HYI,ECO:0000244|PDB:2J0Q,ECO:0000244|PDB:2J0S,ECO:0000244|PDB:2XB2,ECO:0000244|PDB:3EX7,ECO:0000269|PubMed:169 |
| P38919 | 328 | 363 | 1 | 411 | Chain | ID=PRO_0000423267;Note=Eukaryotic initiation factor 4A-III |
| P38919 | 328 | 363 | 2 | 411 | Chain | ID=PRO_0000054942;Note=Eukaryotic initiation factor 4A-III%2C N-terminally processed |
| P38919 | 328 | 363 | 250 | 411 | Domain | Note=Helicase C-terminal;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00542 |
| P38919 | 328 | 363 | 335 | 337 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2J0S |
| P38919 | 328 | 363 | 360 | 365 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4C9B |
| P38919 | 328 | 363 | 334 | 334 | Mutagenesis | Note=Reduced incorporation into EJCs. T->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23236153;Dbxref=PMID:23236153 |
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SNVs in the skipped exons for EIF4A3 |
| - 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_294234 | 78110027 | 78110134 | 78110098 | 78110098 | Frame_Shift_Del | C | - | p.G340fs |
| BLCA | TCGA-DK-A6AW-01 | exon_skip_294234 | 78110027 | 78110134 | 78110043 | 78110043 | Nonsense_Mutation | C | A | p.E359* |
| UCEC | TCGA-AP-A0LM-01 | exon_skip_294234 | 78110027 | 78110134 | 78110133 | 78110133 | Nonsense_Mutation | G | A | p.R329* |
| - 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 |
| SNU349_KIDNEY | 78110027 | 78110134 | 78110064 | 78110064 | Missense_Mutation | A | G | p.Y352H |
| HEC1_ENDOMETRIUM | 78110027 | 78110134 | 78110102 | 78110102 | Missense_Mutation | C | A | p.R339M |
| HEC1B_ENDOMETRIUM | 78110027 | 78110134 | 78110102 | 78110102 | Missense_Mutation | C | A | p.R339M |
| KMH2_THYROID | 78113469 | 78113549 | 78113540 | 78113540 | Missense_Mutation | C | G | p.R172P |
| NCIH630_LARGE_INTESTINE | 78113469 | 78113549 | 78113540 | 78113540 | Missense_Mutation | C | T | p.R172H |
| RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 78115118 | 78115180 | 78115168 | 78115168 | Missense_Mutation | G | C | p.Q108E |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for EIF4A3 |
| 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 EIF4A3 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for EIF4A3 |
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RelatedDrugs for EIF4A3 |
| 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 EIF4A3 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| EIF4A3 | C1849348 | Richieri Costa Pereira syndrome | 1 | ORPHANET;UNIPROT |
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