|
||||||
|
 | |
| |
| |
| |
| 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 EIF5B |
 Gene summary |
| Gene information | Gene symbol | EIF5B | Gene ID | 9669 |
| Gene name | eukaryotic translation initiation factor 5B | |
| Synonyms | IF2 | |
| Cytomap | 2q11.2 | |
| Type of gene | protein-coding | |
| Description | eukaryotic translation initiation factor 5BeIF-5Btranslation initiation factor IF-2translation initiation factor IF2 | |
| Modification date | 20180523 | |
| UniProtAcc | O60841 | |
| Context | PubMed: EIF5B [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 |
| EIF5B | GO:0006446 | regulation of translational initiation | 10432305 |
Top |
Exon skipping events across known transcript of Ensembl for EIF5B 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 EIF5B |
| Expression levels of gene isoforms across TCGA. |
 |
| Expression levels of gene isoforms across GTEx. |
 |
Top |
Exon skipping events with PSIs in TCGA for EIF5B |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_328003 | 2 | 99976698:99976824:99976927:99977012:99977610:99978283 | 99976927:99977012 | ENSG00000158417.6 | ENST00000289371.6 |
| exon_skip_328008 | 2 | 99976927:99977012:99977610:99978283:99980107:99980325 | 99977610:99978283 | ENSG00000158417.6 | ENST00000289371.6 |
| exon_skip_328010 | 2 | 99984955:99985054:99985854:99985944:99988118:99988193 | 99985854:99985944 | ENSG00000158417.6 | ENST00000289371.6 |
| exon_skip_328023 | 2 | 99985854:99985944:99988118:99988193:99992809:99993099 | 99988118:99988193 | ENSG00000158417.6 | ENST00000289371.6 |
| exon_skip_328031 | 2 | 99999242:99999384:100006180:100006312:100006681:100006864 | 100006180:100006312 | ENSG00000158417.6 | ENST00000289371.6 |
| exon_skip_328036 | 2 | 100006180:100006312:100006681:100006864:100007006:100007153 | 100006681:100006864 | ENSG00000158417.6 | ENST00000289371.6,ENST00000470868.1 |
| exon_skip_328037 | 2 | 100006681:100006864:100007006:100007168:100009429:100009561 | 100007006:100007168 | ENSG00000158417.6 | ENST00000289371.6 |
| exon_skip_328042 | 2 | 100011271:100011346:100013222:100013361:100015210:100015372 | 100013222:100013361 | ENSG00000158417.6 | ENST00000494190.1,ENST00000289371.6 |
| PSI values of skipped exons in TCGA. |
 |
Top |
Exon skipping events with PSIs in GTEx for EIF5B |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_328003 | 2 | 99976698:99976824:99976927:99977012:99977610:99978283 | 99976927:99977012 | ENSG00000158417.6 | ENST00000289371.6 |
| exon_skip_328008 | 2 | 99976927:99977012:99977610:99978283:99980107:99980325 | 99977610:99978283 | ENSG00000158417.6 | ENST00000289371.6 |
| exon_skip_328010 | 2 | 99984955:99985054:99985854:99985944:99988118:99988193 | 99985854:99985944 | ENSG00000158417.6 | ENST00000289371.6 |
| exon_skip_328023 | 2 | 99985854:99985944:99988118:99988193:99992809:99993099 | 99988118:99988193 | ENSG00000158417.6 | ENST00000289371.6 |
| exon_skip_328031 | 2 | 99999242:99999384:100006180:100006312:100006681:100006864 | 100006180:100006312 | ENSG00000158417.6 | ENST00000289371.6 |
| exon_skip_328036 | 2 | 100006180:100006312:100006681:100006864:100007006:100007153 | 100006681:100006864 | ENSG00000158417.6 | ENST00000289371.6,ENST00000470868.1 |
| exon_skip_328037 | 2 | 100006681:100006864:100007006:100007168:100009429:100009561 | 100007006:100007168 | ENSG00000158417.6 | ENST00000289371.6 |
| exon_skip_328042 | 2 | 100011271:100011346:100013222:100013361:100015210:100015372 | 100013222:100013361 | ENSG00000158417.6 | ENST00000289371.6,ENST00000494190.1 |
| PSI values of skipped exons in GTEx. |
 |
| * Skipped exon sequences. |
Top |
Open reading frame (ORF) annotation in the exon skipping event for EIF5B |
| 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 |
| ENST00000289371 | 99976927 | 99977012 | Frame-shift |
| ENST00000289371 | 99977610 | 99978283 | Frame-shift |
| ENST00000289371 | 100013222 | 100013361 | Frame-shift |
| ENST00000289371 | 99985854 | 99985944 | In-frame |
| ENST00000289371 | 99988118 | 99988193 | In-frame |
| ENST00000289371 | 100006180 | 100006312 | In-frame |
| ENST00000289371 | 100006681 | 100006864 | In-frame |
| ENST00000289371 | 100007006 | 100007168 | 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 |
| ENST00000289371 | 99976927 | 99977012 | Frame-shift |
| ENST00000289371 | 99977610 | 99978283 | Frame-shift |
| ENST00000289371 | 100013222 | 100013361 | Frame-shift |
| ENST00000289371 | 99985854 | 99985944 | In-frame |
| ENST00000289371 | 99988118 | 99988193 | In-frame |
| ENST00000289371 | 100006180 | 100006312 | In-frame |
| ENST00000289371 | 100006681 | 100006864 | In-frame |
| ENST00000289371 | 100007006 | 100007168 | In-frame |
Top |
Infer the effects of exon skipping event on protein functional features for EIF5B |
| 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 |
| ENST00000289371 | 5794 | 1220 | 99985854 | 99985944 | 1590 | 1679 | 462 | 492 |
| ENST00000289371 | 5794 | 1220 | 99988118 | 99988193 | 1680 | 1754 | 492 | 517 |
| ENST00000289371 | 5794 | 1220 | 100006180 | 100006312 | 2474 | 2605 | 757 | 801 |
| ENST00000289371 | 5794 | 1220 | 100006681 | 100006864 | 2606 | 2788 | 801 | 862 |
| ENST00000289371 | 5794 | 1220 | 100007006 | 100007168 | 2789 | 2950 | 862 | 916 |
| 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 |
| ENST00000289371 | 5794 | 1220 | 99985854 | 99985944 | 1590 | 1679 | 462 | 492 |
| ENST00000289371 | 5794 | 1220 | 99988118 | 99988193 | 1680 | 1754 | 492 | 517 |
| ENST00000289371 | 5794 | 1220 | 100006180 | 100006312 | 2474 | 2605 | 757 | 801 |
| ENST00000289371 | 5794 | 1220 | 100006681 | 100006864 | 2606 | 2788 | 801 | 862 |
| ENST00000289371 | 5794 | 1220 | 100007006 | 100007168 | 2789 | 2950 | 862 | 916 |
| 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 |
| O60841 | 462 | 492 | 1 | 1220 | Chain | ID=PRO_0000137294;Note=Eukaryotic translation initiation factor 5B |
| O60841 | 462 | 492 | 491 | 496 | Compositional bias | Note=Poly-Glu |
| O60841 | 492 | 517 | 1 | 1220 | Chain | ID=PRO_0000137294;Note=Eukaryotic translation initiation factor 5B |
| O60841 | 492 | 517 | 491 | 496 | Compositional bias | Note=Poly-Glu |
| O60841 | 492 | 517 | 498 | 498 | Modified residue | Note=Phosphothreonine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:21406692;Dbxref=PMID:21406692 |
| O60841 | 757 | 801 | 1 | 1220 | Chain | ID=PRO_0000137294;Note=Eukaryotic translation initiation factor 5B |
| O60841 | 757 | 801 | 629 | 846 | Domain | Note=tr-type G;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01059 |
| O60841 | 757 | 801 | 759 | 759 | Mutagenesis | Note=Loss of activity%3B both in vivo and in vitro. D->N;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10200264;Dbxref=PMID:10200264 |
| O60841 | 757 | 801 | 756 | 759 | Region | Note=G4;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01059 |
| O60841 | 801 | 862 | 1 | 1220 | Chain | ID=PRO_0000137294;Note=Eukaryotic translation initiation factor 5B |
| O60841 | 801 | 862 | 629 | 846 | Domain | Note=tr-type G;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01059 |
| O60841 | 801 | 862 | 824 | 826 | Region | Note=G5;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01059 |
| O60841 | 862 | 916 | 1 | 1220 | Chain | ID=PRO_0000137294;Note=Eukaryotic translation initiation factor 5B |
| O60841 | 862 | 916 | 894 | 894 | Sequence conflict | Note=E->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 |
| O60841 | 462 | 492 | 1 | 1220 | Chain | ID=PRO_0000137294;Note=Eukaryotic translation initiation factor 5B |
| O60841 | 462 | 492 | 491 | 496 | Compositional bias | Note=Poly-Glu |
| O60841 | 492 | 517 | 1 | 1220 | Chain | ID=PRO_0000137294;Note=Eukaryotic translation initiation factor 5B |
| O60841 | 492 | 517 | 491 | 496 | Compositional bias | Note=Poly-Glu |
| O60841 | 492 | 517 | 498 | 498 | Modified residue | Note=Phosphothreonine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:21406692;Dbxref=PMID:21406692 |
| O60841 | 757 | 801 | 1 | 1220 | Chain | ID=PRO_0000137294;Note=Eukaryotic translation initiation factor 5B |
| O60841 | 757 | 801 | 629 | 846 | Domain | Note=tr-type G;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01059 |
| O60841 | 757 | 801 | 759 | 759 | Mutagenesis | Note=Loss of activity%3B both in vivo and in vitro. D->N;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10200264;Dbxref=PMID:10200264 |
| O60841 | 757 | 801 | 756 | 759 | Region | Note=G4;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01059 |
| O60841 | 801 | 862 | 1 | 1220 | Chain | ID=PRO_0000137294;Note=Eukaryotic translation initiation factor 5B |
| O60841 | 801 | 862 | 629 | 846 | Domain | Note=tr-type G;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01059 |
| O60841 | 801 | 862 | 824 | 826 | Region | Note=G5;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01059 |
| O60841 | 862 | 916 | 1 | 1220 | Chain | ID=PRO_0000137294;Note=Eukaryotic translation initiation factor 5B |
| O60841 | 862 | 916 | 894 | 894 | Sequence conflict | Note=E->K;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
Top |
SNVs in the skipped exons for EIF5B |
| - 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. |
EIF5B_LIHC_exon_skip_328008_psi_boxplot.png |
EIF5B_STAD_exon_skip_328008_psi_boxplot.png |
| - 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_328031 | 100006181 | 100006312 | 100006202 | 100006202 | Frame_Shift_Del | A | - | p.K766fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_328031 | 100006181 | 100006312 | 100006258 | 100006258 | Frame_Shift_Del | A | - | p.T783fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_328037 | 100007007 | 100007168 | 100007067 | 100007067 | Frame_Shift_Del | A | - | p.K883fs |
| LIHC | TCGA-BC-A110-01 | exon_skip_328008 | 99977611 | 99978283 | 99977650 | 99977650 | Frame_Shift_Del | A | - | p.K99fs |
| LIHC | TCGA-FV-A23B-01 | exon_skip_328008 | 99977611 | 99978283 | 99977650 | 99977650 | Frame_Shift_Del | A | - | p.K99fs |
| STAD | TCGA-BR-4184-01 | exon_skip_328008 | 99977611 | 99978283 | 99977650 | 99977650 | Frame_Shift_Del | A | - | p.D95fs |
| STAD | TCGA-CG-5721-01 | exon_skip_328008 | 99977611 | 99978283 | 99977650 | 99977650 | Frame_Shift_Del | A | - | p.D95fs |
| STAD | TCGA-HF-A5NB-01 | exon_skip_328008 | 99977611 | 99978283 | 99977650 | 99977650 | Frame_Shift_Del | A | - | p.D95fs |
| STAD | TCGA-HF-A5NB-01 | exon_skip_328008 | 99977611 | 99978283 | 99977650 | 99977650 | Frame_Shift_Del | A | - | p.K99fs |
| UCEC | TCGA-BG-A0LX-01 | exon_skip_328008 | 99977611 | 99978283 | 99977806 | 99977806 | Frame_Shift_Del | A | - | p.K148fs |
| STAD | TCGA-HU-8602-01 | exon_skip_328008 | 99977611 | 99978283 | 99977878 | 99977878 | Frame_Shift_Del | A | - | p.K172fs |
| STAD | TCGA-HU-8602-01 | exon_skip_328008 | 99977611 | 99978283 | 99977878 | 99977878 | Frame_Shift_Del | A | - | p.S171fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_328008 | 99977611 | 99978283 | 99977955 | 99977955 | Frame_Shift_Del | A | - | p.R197fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_328008 | 99977611 | 99978283 | 99978101 | 99978101 | Frame_Shift_Del | A | - | p.E246fs |
| STAD | TCGA-BR-8372-01 | exon_skip_328008 | 99977611 | 99978283 | 99977650 | 99977651 | Frame_Shift_Ins | - | A | p.D95fs |
| STAD | TCGA-CG-5728-01 | exon_skip_328008 | 99977611 | 99978283 | 99977650 | 99977651 | Frame_Shift_Ins | - | A | p.D95fs |
| STAD | TCGA-HU-A4GT-01 | exon_skip_328008 | 99977611 | 99978283 | 99977673 | 99977674 | Frame_Shift_Ins | - | A | p.G103fs |
| STAD | TCGA-HU-A4GT-01 | exon_skip_328008 | 99977611 | 99978283 | 99977674 | 99977675 | Frame_Shift_Ins | - | A | p.G103fs |
| CESC | TCGA-JW-A5VL-01 | exon_skip_328042 | 100013223 | 100013361 | 100013320 | 100013320 | Nonsense_Mutation | C | T | p.Q1118* |
| READ | TCGA-F5-6814-01 | exon_skip_328003 | 99976928 | 99977012 | 99976947 | 99976947 | Nonsense_Mutation | G | T | p.E61X |
| SKCM | TCGA-D3-A3C7-06 | exon_skip_328008 | 99977611 | 99978283 | 99977974 | 99977974 | Nonsense_Mutation | C | T | p.Q204* |
| COAD | TCGA-AZ-6598-01 | exon_skip_328023 | 99988119 | 99988193 | 99988117 | 99988119 | Splice_Site | AGA | - | . |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-HF-A5NB-01 |
| Cancer type: STAD | |
| ESID: exon_skip_328008 | |
| Skipped exon start: 99977611 | |
| Skipped exon end: 99978283 | |
| Mutation start: 99977650 | |
| Mutation end: 99977650 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: A | |
| Mutation seq: - | |
| AAchange: p.D95fs | |
| Sample: TCGA-HF-A5NB-01 |
| Cancer type: STAD | |
| ESID: exon_skip_328008 | |
| Skipped exon start: 99977611 | |
| Skipped exon end: 99978283 | |
| Mutation start: 99977650 | |
| Mutation end: 99977650 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: A | |
| Mutation seq: - | |
| AAchange: p.K99fs | |
exon_skip_141199_STAD_TCGA-HF-A5NB-01.png | |
exon_skip_20156_STAD_TCGA-HF-A5NB-01.png | |
exon_skip_309972_STAD_TCGA-HF-A5NB-01.png | |
exon_skip_314760_STAD_TCGA-HF-A5NB-01.png | |
exon_skip_314762_STAD_TCGA-HF-A5NB-01.png | |
exon_skip_328008_STAD_TCGA-HF-A5NB-01.png | |
exon_skip_328488_STAD_TCGA-HF-A5NB-01.png | |
exon_skip_343108_STAD_TCGA-HF-A5NB-01.png | |
exon_skip_348822_STAD_TCGA-HF-A5NB-01.png | |
exon_skip_390969_STAD_TCGA-HF-A5NB-01.png | |
exon_skip_39582_STAD_TCGA-HF-A5NB-01.png | |
exon_skip_428975_STAD_TCGA-HF-A5NB-01.png | |
exon_skip_470473_STAD_TCGA-HF-A5NB-01.png | |
exon_skip_93891_STAD_TCGA-HF-A5NB-01.png | |
 | Sample: TCGA-HU-A4GT-01 |
| Cancer type: STAD | |
| ESID: exon_skip_328008 | |
| Skipped exon start: 99977611 | |
| Skipped exon end: 99978283 | |
| Mutation start: 99977673 | |
| Mutation end: 99977674 | |
| Mutation type: Frame_Shift_Ins | |
| Reference seq: - | |
| Mutation seq: A | |
| AAchange: p.G103fs | |
| Sample: TCGA-HU-A4GT-01 |
| Cancer type: STAD | |
| ESID: exon_skip_328008 | |
| Skipped exon start: 99977611 | |
| Skipped exon end: 99978283 | |
| Mutation start: 99977674 | |
| Mutation end: 99977675 | |
| Mutation type: Frame_Shift_Ins | |
| Reference seq: - | |
| Mutation seq: A | |
| AAchange: p.G103fs | |
exon_skip_121685_STAD_TCGA-HU-A4GT-01.png | |
exon_skip_135112_STAD_TCGA-HU-A4GT-01.png | |
exon_skip_135114_STAD_TCGA-HU-A4GT-01.png | |
exon_skip_295812_STAD_TCGA-HU-A4GT-01.png | |
exon_skip_310114_STAD_TCGA-HU-A4GT-01.png | |
exon_skip_314971_STAD_TCGA-HU-A4GT-01.png | |
exon_skip_328008_STAD_TCGA-HU-A4GT-01.png | |
exon_skip_347979_STAD_TCGA-HU-A4GT-01.png | |
exon_skip_347981_STAD_TCGA-HU-A4GT-01.png | |
exon_skip_45131_STAD_TCGA-HU-A4GT-01.png | |
exon_skip_45132_STAD_TCGA-HU-A4GT-01.png | |
exon_skip_65658_STAD_TCGA-HU-A4GT-01.png | |
exon_skip_86427_STAD_TCGA-HU-A4GT-01.png | |
 | Sample: TCGA-CG-5721-01 |
| Cancer type: STAD | |
| ESID: exon_skip_328008 | |
| Skipped exon start: 99977611 | |
| Skipped exon end: 99978283 | |
| Mutation start: 99977650 | |
| Mutation end: 99977650 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: A | |
| Mutation seq: - | |
| AAchange: p.D95fs | |
exon_skip_107493_STAD_TCGA-CG-5721-01.png | |
exon_skip_107867_STAD_TCGA-CG-5721-01.png | |
exon_skip_123973_STAD_TCGA-CG-5721-01.png | |
exon_skip_124728_STAD_TCGA-CG-5721-01.png | |
exon_skip_20583_STAD_TCGA-CG-5721-01.png | |
exon_skip_284550_STAD_TCGA-CG-5721-01.png | |
exon_skip_287086_STAD_TCGA-CG-5721-01.png | |
exon_skip_287092_STAD_TCGA-CG-5721-01.png | |
exon_skip_328008_STAD_TCGA-CG-5721-01.png | |
exon_skip_347989_STAD_TCGA-CG-5721-01.png | |
exon_skip_360357_STAD_TCGA-CG-5721-01.png | |
exon_skip_360359_STAD_TCGA-CG-5721-01.png | |
exon_skip_361242_STAD_TCGA-CG-5721-01.png | |
exon_skip_363554_STAD_TCGA-CG-5721-01.png | |
exon_skip_370065_STAD_TCGA-CG-5721-01.png | |
exon_skip_377240_STAD_TCGA-CG-5721-01.png | |
exon_skip_378735_STAD_TCGA-CG-5721-01.png | |
exon_skip_41850_STAD_TCGA-CG-5721-01.png | |
exon_skip_425098_STAD_TCGA-CG-5721-01.png | |
exon_skip_443908_STAD_TCGA-CG-5721-01.png | |
exon_skip_449553_STAD_TCGA-CG-5721-01.png | |
exon_skip_452918_STAD_TCGA-CG-5721-01.png | |
exon_skip_454809_STAD_TCGA-CG-5721-01.png | |
exon_skip_462689_STAD_TCGA-CG-5721-01.png | |
exon_skip_482821_STAD_TCGA-CG-5721-01.png | |
exon_skip_482822_STAD_TCGA-CG-5721-01.png | |
exon_skip_487878_STAD_TCGA-CG-5721-01.png | |
exon_skip_502793_STAD_TCGA-CG-5721-01.png | |
exon_skip_508189_STAD_TCGA-CG-5721-01.png | |
exon_skip_516607_STAD_TCGA-CG-5721-01.png | |
exon_skip_54935_STAD_TCGA-CG-5721-01.png | |
exon_skip_96977_STAD_TCGA-CG-5721-01.png | |
| - 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 |
| IM95_STOMACH | 100006181 | 100006312 | 100006247 | 100006247 | Frame_Shift_Del | A | - | p.K781fs |
| SNUC2A_LARGE_INTESTINE | 99977611 | 99978283 | 99977650 | 99977650 | Frame_Shift_Del | A | - | p.K99fs |
| COLO684_ENDOMETRIUM | 99977611 | 99978283 | 99977650 | 99977650 | Frame_Shift_Del | A | - | p.K99fs |
| SNUC2B_LARGE_INTESTINE | 99977611 | 99978283 | 99977650 | 99977650 | Frame_Shift_Del | A | - | p.K99fs |
| KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 99977611 | 99978283 | 99977674 | 99977674 | Frame_Shift_Del | A | - | p.K105fs |
| ISHIKAWAHERAKLIO02ER_ENDOMETRIUM | 99977611 | 99978283 | 99977806 | 99977806 | Frame_Shift_Del | A | - | p.K149fs |
| HEC108_ENDOMETRIUM | 99977611 | 99978283 | 99977878 | 99977878 | Frame_Shift_Del | A | - | p.K173fs |
| CCK81_LARGE_INTESTINE | 99977611 | 99978283 | 99977649 | 99977650 | Frame_Shift_Ins | - | A | p.K96fs |
| SNU1040_LARGE_INTESTINE | 99977611 | 99978283 | 99977805 | 99977806 | Frame_Shift_Ins | - | A | p.K148fs |
| SNU175_LARGE_INTESTINE | 99977611 | 99978283 | 99977964 | 99977965 | Frame_Shift_Ins | - | A | p.K201fs |
| COV644_OVARY | 99977611 | 99978283 | 99978083 | 99978084 | Frame_Shift_Ins | - | A | p.RK240fs |
| NCIH3122_LUNG | 99977611 | 99978283 | 99978083 | 99978084 | Frame_Shift_Ins | - | A | p.RK240fs |
| SW1573_LUNG | 99977611 | 99978283 | 99978083 | 99978084 | Frame_Shift_Ins | - | A | p.RK240fs |
| YD8_UPPER_AERODIGESTIVE_TRACT | 100006181 | 100006312 | 100006286 | 100006286 | Missense_Mutation | G | A | p.A793T |
| TE9_OESOPHAGUS | 100006181 | 100006312 | 100006289 | 100006289 | Missense_Mutation | A | G | p.I794V |
| TE9_OESOPHAGUS | 100006181 | 100006312 | 100006289 | 100006290 | Missense_Mutation | AT | GC | p.I794A |
| TE9_OESOPHAGUS | 100006181 | 100006312 | 100006290 | 100006290 | Missense_Mutation | T | C | p.I794T |
| M14_SKIN | 100006181 | 100006312 | 100006292 | 100006292 | Missense_Mutation | A | G | p.I795V |
| MDAMB435S_SKIN | 100006181 | 100006312 | 100006292 | 100006292 | Missense_Mutation | A | G | p.I795V |
| RL952_ENDOMETRIUM | 100006682 | 100006864 | 100006784 | 100006784 | Missense_Mutation | T | C | p.Y836H |
| EN_ENDOMETRIUM | 100006682 | 100006864 | 100006806 | 100006806 | Missense_Mutation | A | G | p.Q843R |
| HCT116_LARGE_INTESTINE | 100007007 | 100007168 | 100007061 | 100007061 | Missense_Mutation | C | T | p.R881C |
| ECC12_STOMACH | 100007007 | 100007168 | 100007061 | 100007061 | Missense_Mutation | C | T | p.R881C |
| SNU324_PANCREAS | 100007007 | 100007168 | 100007082 | 100007082 | Missense_Mutation | A | C | p.I888L |
| TCCPAN2_PANCREAS | 100013223 | 100013361 | 100013237 | 100013237 | Missense_Mutation | T | A | p.F1090Y |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 100013223 | 100013361 | 100013250 | 100013250 | Missense_Mutation | A | G | p.I1094M |
| SNUC4_LARGE_INTESTINE | 100013223 | 100013361 | 100013264 | 100013264 | Missense_Mutation | A | C | p.Q1099P |
| HCC44_LUNG | 100013223 | 100013361 | 100013282 | 100013282 | Missense_Mutation | G | A | p.R1105Q |
| JHUEM7_ENDOMETRIUM | 100013223 | 100013361 | 100013288 | 100013288 | Missense_Mutation | C | T | p.P1107L |
| CW9019_SOFT_TISSUE | 100013223 | 100013361 | 100013306 | 100013306 | Missense_Mutation | C | T | p.T1113M |
| H4_CENTRAL_NERVOUS_SYSTEM | 99977611 | 99978283 | 99977647 | 99977647 | Missense_Mutation | G | A | p.D95N |
| BE2M17_AUTONOMIC_GANGLIA | 99977611 | 99978283 | 99977647 | 99977647 | Missense_Mutation | G | T | p.D95Y |
| SNU1196_BILIARY_TRACT | 99977611 | 99978283 | 99977791 | 99977791 | Missense_Mutation | T | C | p.F143L |
| JHUEM7_ENDOMETRIUM | 99977611 | 99978283 | 99977794 | 99977794 | Missense_Mutation | A | G | p.N144D |
| SNU520_STOMACH | 99977611 | 99978283 | 99977894 | 99977894 | Missense_Mutation | G | A | p.R177H |
| SW837_LARGE_INTESTINE | 99977611 | 99978283 | 99977937 | 99977937 | Missense_Mutation | T | A | p.D191E |
| CTV1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 99977611 | 99978283 | 99977947 | 99977947 | Missense_Mutation | C | A | p.Q195K |
| NH12_AUTONOMIC_GANGLIA | 99977611 | 99978283 | 99977956 | 99977956 | Missense_Mutation | A | G | p.K198E |
| RF48_STOMACH | 99977611 | 99978283 | 99977974 | 99977974 | Missense_Mutation | C | G | p.Q204E |
| HEC108_ENDOMETRIUM | 99977611 | 99978283 | 99978004 | 99978004 | Missense_Mutation | A | G | p.S214G |
| SN12C_KIDNEY | 99977611 | 99978283 | 99978028 | 99978028 | Missense_Mutation | T | G | p.S222A |
| EJM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 99977611 | 99978283 | 99978029 | 99978029 | Missense_Mutation | C | G | p.S222C |
| EJM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 99977611 | 99978283 | 99978052 | 99978052 | Missense_Mutation | C | G | p.Q230E |
| LS411N_LARGE_INTESTINE | 99977611 | 99978283 | 99978062 | 99978062 | Missense_Mutation | C | T | p.A233V |
| SKUT1_SOFT_TISSUE | 99977611 | 99978283 | 99978076 | 99978076 | Missense_Mutation | C | T | p.R238C |
| HT115_LARGE_INTESTINE | 99977611 | 99978283 | 99978079 | 99978079 | Missense_Mutation | G | A | p.E239K |
| AN3CA_ENDOMETRIUM | 99977611 | 99978283 | 99978103 | 99978103 | Missense_Mutation | A | G | p.K247E |
| SF126_CENTRAL_NERVOUS_SYSTEM | 99977611 | 99978283 | 99978116 | 99978116 | Missense_Mutation | G | A | p.R251Q |
| CCK81_LARGE_INTESTINE | 99977611 | 99978283 | 99978135 | 99978135 | Missense_Mutation | A | C | p.E257D |
| HT115_LARGE_INTESTINE | 99985855 | 99985944 | 99985870 | 99985870 | Missense_Mutation | A | G | p.E468G |
| 201T_LUNG | 99988119 | 99988193 | 99988134 | 99988134 | Missense_Mutation | C | G | p.T498S |
| LS180_LARGE_INTESTINE | 99988119 | 99988193 | 99988137 | 99988137 | Missense_Mutation | A | T | p.E499V |
| ESS1_ENDOMETRIUM | 100013223 | 100013361 | 100013268 | 100013268 | Nonsense_Mutation | C | A | p.Y1100* |
Top |
Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for EIF5B |
| 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 |
Top |
Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for EIF5B |
Top |
Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for EIF5B |
Top |
RelatedDrugs for EIF5B |
| 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 EIF5B |
| 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)
|