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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 EIF1 |
 Gene summary |
| Gene information | Gene symbol | EIF1 | Gene ID | 10209 |
| Gene name | eukaryotic translation initiation factor 1 | |
| Synonyms | A121|EIF-1|EIF1A|ISO1|SUI1 | |
| Cytomap | 17q21.2 | |
| Type of gene | protein-coding | |
| Description | eukaryotic translation initiation factor 1protein translation factor SUI1 homologsui1iso1 | |
| Modification date | 20180523 | |
| UniProtAcc | P41567 | |
| Context | PubMed: EIF1 [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 |
| EIF1 | GO:0006446 | regulation of translational initiation | 22156057 |
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Exon skipping events across known transcript of Ensembl for EIF1 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 EIF1 |
| 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 EIF1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_152496 | 17 | 39845241:39845321:39846029:39846193:39846339:39846441 | 39846029:39846193 | ENSG00000173812.6 | ENST00000469257.1,ENST00000591776.1 |
| exon_skip_152504 | 17 | 39846342:39846441:39847033:39847071:39847154:39847464 | 39847033:39847071 | ENSG00000173812.6 | ENST00000591776.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for EIF1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_152496 | 17 | 39845241:39845321:39846029:39846193:39846339:39846441 | 39846029:39846193 | ENSG00000173812.6 | ENST00000591776.1,ENST00000469257.1 |
| exon_skip_152504 | 17 | 39846342:39846441:39847033:39847071:39847154:39847464 | 39847033:39847071 | ENSG00000173812.6 | ENST00000591776.1 |
| 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 EIF1 |
| 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 |
| ENST00000469257 | 39846029 | 39846193 | 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 |
| ENST00000469257 | 39846029 | 39846193 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for EIF1 |
| 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 EIF1 |
| - 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_152496 | 39846030 | 39846193 | 39846035 | 39846035 | Frame_Shift_Del | T | - | p.F13fs |
| UCS | TCGA-N9-A4Q7-01 | exon_skip_152496 | 39846030 | 39846193 | 39846029 | 39846029 | Splice_Site | G | C | . |
| HNSC | TCGA-BA-4077-01 | exon_skip_152504 | 39847034 | 39847071 | 39847033 | 39847033 | Splice_Site | G | A | p.I100_splice |
| - 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 |
| SNU1040_LARGE_INTESTINE | 39847034 | 39847071 | 39847073 | 39847073 | Frame_Shift_Del | T | - | p.F113fs |
| DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 39846030 | 39846193 | 39846045 | 39846046 | Frame_Shift_Ins | - | AAGT | p.-18fs |
| NCIH2110_LUNG | 39846030 | 39846193 | 39846041 | 39846041 | Missense_Mutation | G | A | p.D15N |
| REH_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 39846030 | 39846193 | 39846072 | 39846072 | Missense_Mutation | C | T | p.A25V |
| RH30_SOFT_TISSUE | 39846030 | 39846193 | 39846120 | 39846120 | Missense_Mutation | G | A | p.R41K |
| SJRH30_SOFT_TISSUE | 39846030 | 39846193 | 39846120 | 39846120 | Missense_Mutation | G | A | p.R41K |
| HCC1599_BREAST | 39847034 | 39847071 | 39847038 | 39847038 | Missense_Mutation | G | C | p.G101A |
| OCIAML5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 39847034 | 39847071 | 39847065 | 39847065 | Missense_Mutation | T | C | p.V110A |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for EIF1 |
| 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 EIF1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for EIF1 |
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RelatedDrugs for EIF1 |
| 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 EIF1 |
| 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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