|
||||||
|
 | |
| |
| |
| |
| Open reading frame (ORF) annotation in the exon skipping event |
| |
| |
| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
| Splicing Quantitative Trait Methylation (sQTM) in the skipped exon |
| |
|
Gene summary for EIF4ENIF1 |
 Gene summary |
| Gene information | Gene symbol | EIF4ENIF1 | Gene ID | 56478 |
| Gene name | eukaryotic translation initiation factor 4E nuclear import factor 1 | |
| Synonyms | 4E-T|Clast4 | |
| Cytomap | 22q12.2 | |
| Type of gene | protein-coding | |
| Description | eukaryotic translation initiation factor 4E transporter2610509L04RikeIF4E transporter | |
| Modification date | 20180522 | |
| UniProtAcc | Q9NRA8 | |
| Context | PubMed: EIF4ENIF1 [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 |
Top |
Exon skipping events across known transcript of Ensembl for EIF4ENIF1 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. |
 |
Top |
Gene isoform structures and expression levels for EIF4ENIF1 |
| Expression levels of gene isoforms across TCGA. |
 |
| Expression levels of gene isoforms across GTEx. |
 |
Top |
Exon skipping events with PSIs in TCGA for EIF4ENIF1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_368764 | 22 | 31838947:31839080:31840591:31840676:31843411:31843551 | 31840591:31840676 | ENSG00000184708.13 | ENST00000397525.1,ENST00000344710.5,ENST00000382180.2,ENST00000397523.1,ENST00000495101.1,ENST00000330125.5 |
| exon_skip_368765 | 22 | 31840617:31840676:31842923:31842994:31843411:31843551 | 31842923:31842994 | ENSG00000184708.13 | ENST00000445424.1 |
| exon_skip_368766 | 22 | 31840617:31840676:31843411:31843551:31844138:31844218 | 31843411:31843551 | ENSG00000184708.13 | ENST00000397525.1,ENST00000418321.1,ENST00000382180.2,ENST00000397523.1,ENST00000330125.5 |
| exon_skip_368767 | 22 | 31840617:31840676:31843411:31843554:31844138:31844218 | 31843411:31843554 | ENSG00000184708.13 | ENST00000487671.1,ENST00000344710.5,ENST00000495101.1 |
| exon_skip_368771 | 22 | 31843411:31843554:31844138:31844218:31845333:31845369 | 31844138:31844218 | ENSG00000184708.13 | ENST00000487671.1,ENST00000344710.5,ENST00000495101.1 |
| exon_skip_368772 | 22 | 31845333:31845517:31846274:31846346:31850129:31850263 | 31846274:31846346 | ENSG00000184708.13 | ENST00000397525.1,ENST00000330125.5 |
| exon_skip_368773 | 22 | 31851121:31851301:31851837:31851973:31854460:31854636 | 31851837:31851973 | ENSG00000184708.13 | ENST00000397525.1,ENST00000344710.5,ENST00000397523.1,ENST00000330125.5 |
| exon_skip_368774 | 22 | 31851837:31851973:31854460:31854636:31858917:31859119 | 31854460:31854636 | ENSG00000184708.13 | ENST00000397525.1,ENST00000397523.1,ENST00000330125.5 |
| exon_skip_368775 | 22 | 31854460:31854636:31858917:31859119:31859666:31859953 | 31858917:31859119 | ENSG00000184708.13 | ENST00000397525.1,ENST00000397523.1,ENST00000330125.5 |
| exon_skip_368778 | 22 | 31858917:31859119:31859666:31859953:31864160:31864288 | 31859666:31859953 | ENSG00000184708.13 | ENST00000397525.1,ENST00000397523.1,ENST00000330125.5 |
| exon_skip_368779 | 22 | 31859685:31859953:31864160:31864288:31867829:31867903 | 31864160:31864288 | ENSG00000184708.13 | ENST00000397525.1,ENST00000397523.1,ENST00000423097.1,ENST00000330125.5 |
| exon_skip_368781 | 22 | 31864267:31864288:31867829:31867903:31884608:31884731 | 31867829:31867903 | ENSG00000184708.13 | ENST00000397525.1,ENST00000344710.5,ENST00000397520.1,ENST00000397518.1,ENST00000397523.1,ENST00000423097.1,ENST00000330125.5 |
| PSI values of skipped exons in TCGA. |
 |
Top |
Exon skipping events with PSIs in GTEx for EIF4ENIF1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_368764 | 22 | 31838947:31839080:31840591:31840676:31843411:31843551 | 31840591:31840676 | ENSG00000184708.13 | ENST00000344710.5,ENST00000495101.1,ENST00000397525.1,ENST00000330125.5,ENST00000397523.1,ENST00000382180.2 |
| exon_skip_368765 | 22 | 31840617:31840676:31842923:31842994:31843411:31843551 | 31842923:31842994 | ENSG00000184708.13 | ENST00000445424.1 |
| exon_skip_368766 | 22 | 31840617:31840676:31843411:31843551:31844138:31844218 | 31843411:31843551 | ENSG00000184708.13 | ENST00000397525.1,ENST00000330125.5,ENST00000397523.1,ENST00000382180.2,ENST00000418321.1 |
| exon_skip_368767 | 22 | 31840617:31840676:31843411:31843554:31844138:31844218 | 31843411:31843554 | ENSG00000184708.13 | ENST00000344710.5,ENST00000495101.1,ENST00000487671.1 |
| exon_skip_368771 | 22 | 31843411:31843554:31844138:31844218:31845333:31845369 | 31844138:31844218 | ENSG00000184708.13 | ENST00000344710.5,ENST00000495101.1,ENST00000487671.1 |
| exon_skip_368772 | 22 | 31845333:31845517:31846274:31846346:31850129:31850263 | 31846274:31846346 | ENSG00000184708.13 | ENST00000397525.1,ENST00000330125.5 |
| exon_skip_368773 | 22 | 31851121:31851301:31851837:31851973:31854460:31854636 | 31851837:31851973 | ENSG00000184708.13 | ENST00000344710.5,ENST00000397525.1,ENST00000330125.5,ENST00000397523.1 |
| exon_skip_368774 | 22 | 31851837:31851973:31854460:31854636:31858917:31859119 | 31854460:31854636 | ENSG00000184708.13 | ENST00000397525.1,ENST00000330125.5,ENST00000397523.1 |
| exon_skip_368775 | 22 | 31854460:31854636:31858917:31859119:31859666:31859953 | 31858917:31859119 | ENSG00000184708.13 | ENST00000397525.1,ENST00000330125.5,ENST00000397523.1 |
| exon_skip_368778 | 22 | 31858917:31859119:31859666:31859953:31864160:31864288 | 31859666:31859953 | ENSG00000184708.13 | ENST00000397525.1,ENST00000330125.5,ENST00000397523.1 |
| exon_skip_368779 | 22 | 31859685:31859953:31864160:31864288:31867829:31867903 | 31864160:31864288 | ENSG00000184708.13 | ENST00000397525.1,ENST00000330125.5,ENST00000397523.1,ENST00000423097.1 |
| exon_skip_368781 | 22 | 31864267:31864288:31867829:31867903:31884608:31884731 | 31867829:31867903 | ENSG00000184708.13 | ENST00000344710.5,ENST00000397525.1,ENST00000330125.5,ENST00000397523.1,ENST00000423097.1,ENST00000397518.1,ENST00000397520.1 |
| PSI values of skipped exons in GTEx. |
 |
| * Skipped exon sequences. |
Top |
Open reading frame (ORF) annotation in the exon skipping event for EIF4ENIF1 |
| 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 |
| ENST00000330125 | 31840591 | 31840676 | Frame-shift |
| ENST00000397525 | 31840591 | 31840676 | Frame-shift |
| ENST00000330125 | 31843411 | 31843551 | Frame-shift |
| ENST00000397525 | 31843411 | 31843551 | Frame-shift |
| ENST00000330125 | 31851837 | 31851973 | Frame-shift |
| ENST00000397525 | 31851837 | 31851973 | Frame-shift |
| ENST00000330125 | 31854460 | 31854636 | Frame-shift |
| ENST00000397525 | 31854460 | 31854636 | Frame-shift |
| ENST00000330125 | 31858917 | 31859119 | Frame-shift |
| ENST00000397525 | 31858917 | 31859119 | Frame-shift |
| ENST00000330125 | 31859666 | 31859953 | Frame-shift |
| ENST00000397525 | 31859666 | 31859953 | Frame-shift |
| ENST00000330125 | 31864160 | 31864288 | Frame-shift |
| ENST00000397525 | 31864160 | 31864288 | Frame-shift |
| ENST00000330125 | 31867829 | 31867903 | Frame-shift |
| ENST00000397525 | 31867829 | 31867903 | Frame-shift |
| ENST00000330125 | 31846274 | 31846346 | In-frame |
| ENST00000397525 | 31846274 | 31846346 | 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 |
| ENST00000330125 | 31840591 | 31840676 | Frame-shift |
| ENST00000397525 | 31840591 | 31840676 | Frame-shift |
| ENST00000330125 | 31843411 | 31843551 | Frame-shift |
| ENST00000397525 | 31843411 | 31843551 | Frame-shift |
| ENST00000330125 | 31851837 | 31851973 | Frame-shift |
| ENST00000397525 | 31851837 | 31851973 | Frame-shift |
| ENST00000330125 | 31854460 | 31854636 | Frame-shift |
| ENST00000397525 | 31854460 | 31854636 | Frame-shift |
| ENST00000330125 | 31858917 | 31859119 | Frame-shift |
| ENST00000397525 | 31858917 | 31859119 | Frame-shift |
| ENST00000330125 | 31859666 | 31859953 | Frame-shift |
| ENST00000397525 | 31859666 | 31859953 | Frame-shift |
| ENST00000330125 | 31864160 | 31864288 | Frame-shift |
| ENST00000397525 | 31864160 | 31864288 | Frame-shift |
| ENST00000330125 | 31867829 | 31867903 | Frame-shift |
| ENST00000397525 | 31867829 | 31867903 | Frame-shift |
| ENST00000330125 | 31846274 | 31846346 | In-frame |
| ENST00000397525 | 31846274 | 31846346 | In-frame |
Top |
Infer the effects of exon skipping event on protein functional features for EIF4ENIF1 |
| Exon skipping at the protein sequence level and followed lost functional features. * Click on the image to enlarge it in a new window. |
 |
| 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 |
| ENST00000330125 | 3561 | 985 | 31846274 | 31846346 | 1588 | 1659 | 504 | 528 |
| ENST00000397525 | 3712 | 985 | 31846274 | 31846346 | 1737 | 1808 | 504 | 528 |
| 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 |
| ENST00000330125 | 3561 | 985 | 31846274 | 31846346 | 1588 | 1659 | 504 | 528 |
| ENST00000397525 | 3712 | 985 | 31846274 | 31846346 | 1737 | 1808 | 504 | 528 |
| 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 |
| Q9NRA8 | 504 | 528 | 493 | 504 | Alternative sequence | ID=VSP_003784;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q9NRA8 | 504 | 528 | 493 | 504 | Alternative sequence | ID=VSP_003784;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q9NRA8 | 504 | 528 | 1 | 985 | Chain | ID=PRO_0000064381;Note=Eukaryotic translation initiation factor 4E transporter |
| Q9NRA8 | 504 | 528 | 1 | 985 | Chain | ID=PRO_0000064381;Note=Eukaryotic translation initiation factor 4E transporter |
| Q9NRA8 | 504 | 528 | 513 | 513 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:23186163;Dbxref=PMID:20068231,PMID:23186163 |
| Q9NRA8 | 504 | 528 | 513 | 513 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:23186163;Dbxref=PMID:20068231,PMID:23186163 |
| 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 |
| Q9NRA8 | 504 | 528 | 493 | 504 | Alternative sequence | ID=VSP_003784;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q9NRA8 | 504 | 528 | 493 | 504 | Alternative sequence | ID=VSP_003784;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q9NRA8 | 504 | 528 | 1 | 985 | Chain | ID=PRO_0000064381;Note=Eukaryotic translation initiation factor 4E transporter |
| Q9NRA8 | 504 | 528 | 1 | 985 | Chain | ID=PRO_0000064381;Note=Eukaryotic translation initiation factor 4E transporter |
| Q9NRA8 | 504 | 528 | 513 | 513 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:23186163;Dbxref=PMID:20068231,PMID:23186163 |
| Q9NRA8 | 504 | 528 | 513 | 513 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:23186163;Dbxref=PMID:20068231,PMID:23186163 |
Top |
SNVs in the skipped exons for EIF4ENIF1 |
| - Lollipop plot for presenting exon skipping associated SNVs. * Click on the image to enlarge it in a new window. |
 |
| - 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-A1EG-01 | exon_skip_368778 | 31859667 | 31859953 | 31859707 | 31859707 | Frame_Shift_Del | T | - | p.D182fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_368778 | 31859667 | 31859953 | 31859712 | 31859712 | Frame_Shift_Del | C | - | p.L180fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_368778 | 31859667 | 31859953 | 31859717 | 31859717 | Frame_Shift_Del | C | - | p.D179fs |
| BRCA | TCGA-D8-A1XR-01 | exon_skip_368781 | 31867830 | 31867903 | 31867837 | 31867838 | Frame_Shift_Ins | - | T | p.Y54fs |
| UCEC | TCGA-D1-A17U-01 | exon_skip_368781 | 31867830 | 31867903 | 31867837 | 31867838 | Frame_Shift_Ins | - | T | p.K54fs |
| CHOL | TCGA-W5-AA38-01 | exon_skip_368774 | 31854461 | 31854636 | 31854517 | 31854517 | Nonsense_Mutation | C | A | p.G303* |
| CHOL | TCGA-W5-AA38-01 | exon_skip_368774 | 31854461 | 31854636 | 31854517 | 31854517 | Nonsense_Mutation | C | A | p.G303X |
| BLCA | TCGA-DK-A2I1-01 | exon_skip_368775 | 31858918 | 31859119 | 31859020 | 31859020 | Nonsense_Mutation | G | A | p.Q229* |
| HNSC | TCGA-MT-A67F-01 | exon_skip_368778 | 31859667 | 31859953 | 31859948 | 31859948 | Nonsense_Mutation | G | A | p.R102* |
| PAAD | TCGA-FZ-5923-01 | exon_skip_368778 | 31859667 | 31859953 | 31859948 | 31859948 | Nonsense_Mutation | G | A | p.R102* |
| - 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 |
| NCIH446_LUNG | 31859667 | 31859953 | 31859749 | 31859750 | Frame_Shift_Del | TT | - | p.K168fs |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 31867830 | 31867903 | 31867870 | 31867871 | Frame_Shift_Ins | - | GT | p.S44fs |
| HEC265_ENDOMETRIUM | 31840592 | 31840676 | 31840611 | 31840611 | Missense_Mutation | G | A | p.A685V |
| HLFA_FIBROBLAST | 31843412 | 31843554 | 31843478 | 31843478 | Missense_Mutation | G | T | p.A641E |
| HLFA_FIBROBLAST | 31843412 | 31843551 | 31843478 | 31843478 | Missense_Mutation | G | T | p.A641E |
| SW48_LARGE_INTESTINE | 31843412 | 31843554 | 31843523 | 31843523 | Missense_Mutation | G | A | p.A626V |
| SW48_LARGE_INTESTINE | 31843412 | 31843551 | 31843523 | 31843523 | Missense_Mutation | G | A | p.A626V |
| OVMIU_OVARY | 31851838 | 31851973 | 31851865 | 31851865 | Missense_Mutation | G | T | p.P358T |
| HCC1569_BREAST | 31851838 | 31851973 | 31851874 | 31851874 | Missense_Mutation | C | A | p.G355W |
| DMS153_LUNG | 31851838 | 31851973 | 31851964 | 31851964 | Missense_Mutation | C | G | p.D325H |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 31854461 | 31854636 | 31854512 | 31854512 | Missense_Mutation | G | T | p.D304E |
| NCIH716_LARGE_INTESTINE | 31854461 | 31854636 | 31854628 | 31854628 | Missense_Mutation | C | G | p.E266Q |
| DMS53_LUNG | 31858918 | 31859119 | 31858932 | 31858932 | Missense_Mutation | G | A | p.A258V |
| MEWO_SKIN | 31858918 | 31859119 | 31858932 | 31858932 | Missense_Mutation | G | A | p.A258V |
| LXF289_LUNG | 31858918 | 31859119 | 31858966 | 31858966 | Missense_Mutation | G | A | p.H247Y |
| OVCA420_OVARY | 31858918 | 31859119 | 31859098 | 31859098 | Missense_Mutation | G | A | p.R203C |
| KYSE30_OESOPHAGUS | 31858918 | 31859119 | 31859110 | 31859110 | Missense_Mutation | C | T | p.G199R |
| BFTC909_KIDNEY | 31859667 | 31859953 | 31859698 | 31859698 | Missense_Mutation | C | T | p.R185Q |
| HPBALL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 31859667 | 31859953 | 31859719 | 31859719 | Missense_Mutation | C | T | p.R178Q |
| 451LU_SKIN | 31859667 | 31859953 | 31859828 | 31859828 | Missense_Mutation | T | C | p.K142E |
| NCIH1563_LUNG | 31859667 | 31859953 | 31859842 | 31859842 | Missense_Mutation | C | T | p.G137E |
| DOTC24510_CERVIX | 31859667 | 31859953 | 31859933 | 31859933 | Missense_Mutation | C | G | p.E107Q |
| DG75_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 31864161 | 31864288 | 31864272 | 31864272 | Missense_Mutation | G | T | p.P63T |
| HCC1195_LUNG | 31867830 | 31867903 | 31867885 | 31867885 | Missense_Mutation | T | C | p.K39E |
Top |
Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for EIF4ENIF1 |
| 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_368778 | 22 | 31858917:31859119:31859666:31859953:31864160:31864288 | 31859666:31859953 | ENST00000397525.1,ENST00000397523.1,ENST00000330125.5 | LGG | rs5753627 | chr22:31859859 | A/G | 4.13e-04 |
| exon_skip_368778 | 22 | 31858917:31859119:31859666:31859953:31864160:31864288 | 31859666:31859953 | ENST00000397525.1,ENST00000397523.1,ENST00000330125.5 | LUAD | rs5753627 | chr22:31859859 | A/G | 2.36e-03 |
| exon_skip_368778 | 22 | 31858917:31859119:31859666:31859953:31864160:31864288 | 31859666:31859953 | ENST00000397525.1,ENST00000397523.1,ENST00000330125.5 | LUSC | rs5753627 | chr22:31859859 | A/G | 1.25e-03 |
| exon_skip_368778 | 22 | 31858917:31859119:31859666:31859953:31864160:31864288 | 31859666:31859953 | ENST00000397525.1,ENST00000397523.1,ENST00000330125.5 | PRAD | rs5753627 | chr22:31859859 | A/G | 1.24e-05 |
Top |
Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for EIF4ENIF1 |
Top |
Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for EIF4ENIF1 |
Top |
RelatedDrugs for EIF4ENIF1 |
| 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 |
Top |
RelatedDiseases for EIF4ENIF1 |
| 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)
|