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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 EFTUD2 |
 Gene summary |
| Gene information | Gene symbol | EFTUD2 | Gene ID | 9343 |
| Gene name | elongation factor Tu GTP binding domain containing 2 | |
| Synonyms | MFDGA|MFDM|SNRNP116|Snrp116|Snu114|U5-116KD | |
| Cytomap | 17q21.31 | |
| Type of gene | protein-coding | |
| Description | 116 kDa U5 small nuclear ribonucleoprotein componentSNU114 homologU5 snRNP-specific protein, 116 kDaelongation factor Tu GTP-binding domain-containing protein 2hSNU114 | |
| Modification date | 20180523 | |
| UniProtAcc | Q15029 | |
| Context | PubMed: EFTUD2 [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 |
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Exon skipping events across known transcript of Ensembl for EFTUD2 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 EFTUD2 |
| 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 EFTUD2 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_290592 | 17 | 42928624:42928737:42929077:42929185:42929776:42929930 | 42929077:42929185 | ENSG00000108883.8 | ENST00000589769.1,ENST00000591382.1,ENST00000592576.1,ENST00000402521.3,ENST00000590367.1,ENST00000590977.1,ENST00000426333.2,ENST00000586276.1 |
| exon_skip_290593 | 17 | 42929077:42929185:42929776:42929930:42930663:42930758 | 42929776:42929930 | ENSG00000108883.8 | ENST00000591382.1,ENST00000592576.1,ENST00000402521.3,ENST00000590367.1,ENST00000426333.2,ENST00000586276.1 |
| exon_skip_290594 | 17 | 42929077:42929185:42929776:42929930:42930884:42931003 | 42929776:42929930 | ENSG00000108883.8 | ENST00000589769.1,ENST00000590977.1 |
| exon_skip_290598 | 17 | 42929776:42929930:42930663:42930758:42930884:42931003 | 42930663:42930758 | ENSG00000108883.8 | ENST00000591382.1,ENST00000592576.1,ENST00000402521.3,ENST00000590367.1,ENST00000426333.2,ENST00000586276.1 |
| exon_skip_290606 | 17 | 42932342:42932372:42934442:42934525:42936447:42936549 | 42934442:42934525 | ENSG00000108883.8 | ENST00000591382.1,ENST00000592576.1,ENST00000402521.3,ENST00000590367.1,ENST00000590977.1,ENST00000426333.2,ENST00000586276.1 |
| exon_skip_290608 | 17 | 42934442:42934525:42936447:42936549:42937272:42937413 | 42936447:42936549 | ENSG00000108883.8 | ENST00000591382.1,ENST00000592576.1,ENST00000402521.3,ENST00000590367.1,ENST00000426333.2,ENST00000586276.1 |
| exon_skip_290612 | 17 | 42936447:42936549:42937272:42937413:42937799:42937911 | 42937272:42937413 | ENSG00000108883.8 | ENST00000591382.1,ENST00000592576.1,ENST00000402521.3,ENST00000590367.1,ENST00000426333.2 |
| exon_skip_290616 | 17 | 42937821:42937911:42940080:42940274:42941022:42941150 | 42940080:42940274 | ENSG00000108883.8 | ENST00000591382.1,ENST00000585616.1,ENST00000592576.1,ENST00000402521.3,ENST00000590367.1,ENST00000426333.2 |
| exon_skip_290619 | 17 | 42945654:42945718:42949813:42949938:42953301:42953468 | 42949813:42949938 | ENSG00000108883.8 | ENST00000591382.1,ENST00000592576.1,ENST00000402521.3,ENST00000426333.2 |
| exon_skip_290621 | 17 | 42953456:42953468:42956923:42957006:42957921:42957998 | 42956923:42957006 | ENSG00000108883.8 | ENST00000591382.1,ENST00000593200.1,ENST00000592576.1,ENST00000402521.3,ENST00000588374.1,ENST00000426333.2 |
| exon_skip_290622 | 17 | 42962654:42962702:42963952:42964118:42971784:42971865 | 42963952:42964118 | ENSG00000108883.8 | ENST00000593072.1,ENST00000591382.1,ENST00000589825.1,ENST00000592701.1,ENST00000592576.1,ENST00000426333.2 |
| exon_skip_290625 | 17 | 42964030:42964118:42971612:42971893:42976736:42976771 | 42971612:42971893 | ENSG00000108883.8 | ENST00000592408.1 |
| exon_skip_290626 | 17 | 42964030:42964118:42971784:42971893:42976736:42976771 | 42971784:42971893 | ENSG00000108883.8 | ENST00000589825.1,ENST00000592576.1 |
| exon_skip_290628 | 17 | 42971784:42971893:42973193:42973357:42976342:42976409 | 42973193:42973357 | ENSG00000108883.8 | ENST00000592701.1 |
| exon_skip_290630 | 17 | 42971784:42971893:42976342:42976409:42976736:42976771 | 42976342:42976409 | ENSG00000108883.8 | ENST00000593072.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for EFTUD2 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_290592 | 17 | 42928624:42928737:42929077:42929185:42929776:42929930 | 42929077:42929185 | ENSG00000108883.8 | ENST00000426333.2,ENST00000586276.1,ENST00000592576.1,ENST00000590367.1,ENST00000591382.1,ENST00000590977.1,ENST00000402521.3,ENST00000589769.1 |
| exon_skip_290593 | 17 | 42929077:42929185:42929776:42929930:42930663:42930758 | 42929776:42929930 | ENSG00000108883.8 | ENST00000426333.2,ENST00000586276.1,ENST00000592576.1,ENST00000590367.1,ENST00000591382.1,ENST00000402521.3 |
| exon_skip_290594 | 17 | 42929077:42929185:42929776:42929930:42930884:42931003 | 42929776:42929930 | ENSG00000108883.8 | ENST00000590977.1,ENST00000589769.1 |
| exon_skip_290598 | 17 | 42929776:42929930:42930663:42930758:42930884:42931003 | 42930663:42930758 | ENSG00000108883.8 | ENST00000426333.2,ENST00000586276.1,ENST00000592576.1,ENST00000590367.1,ENST00000591382.1,ENST00000402521.3 |
| exon_skip_290606 | 17 | 42932342:42932372:42934442:42934525:42936447:42936549 | 42934442:42934525 | ENSG00000108883.8 | ENST00000426333.2,ENST00000586276.1,ENST00000592576.1,ENST00000590367.1,ENST00000591382.1,ENST00000590977.1,ENST00000402521.3 |
| exon_skip_290608 | 17 | 42934442:42934525:42936447:42936549:42937272:42937413 | 42936447:42936549 | ENSG00000108883.8 | ENST00000426333.2,ENST00000586276.1,ENST00000592576.1,ENST00000590367.1,ENST00000591382.1,ENST00000402521.3 |
| exon_skip_290612 | 17 | 42936447:42936549:42937272:42937413:42937799:42937911 | 42937272:42937413 | ENSG00000108883.8 | ENST00000426333.2,ENST00000592576.1,ENST00000590367.1,ENST00000591382.1,ENST00000402521.3 |
| exon_skip_290616 | 17 | 42937821:42937911:42940080:42940274:42941022:42941150 | 42940080:42940274 | ENSG00000108883.8 | ENST00000426333.2,ENST00000592576.1,ENST00000590367.1,ENST00000591382.1,ENST00000402521.3,ENST00000585616.1 |
| exon_skip_290619 | 17 | 42945654:42945718:42949813:42949938:42953301:42953468 | 42949813:42949938 | ENSG00000108883.8 | ENST00000426333.2,ENST00000592576.1,ENST00000591382.1,ENST00000402521.3 |
| exon_skip_290621 | 17 | 42953456:42953468:42956923:42957006:42957921:42957998 | 42956923:42957006 | ENSG00000108883.8 | ENST00000426333.2,ENST00000592576.1,ENST00000591382.1,ENST00000402521.3,ENST00000593200.1,ENST00000588374.1 |
| exon_skip_290622 | 17 | 42962654:42962702:42963952:42964118:42971784:42971865 | 42963952:42964118 | ENSG00000108883.8 | ENST00000426333.2,ENST00000592576.1,ENST00000591382.1,ENST00000593072.1,ENST00000589825.1,ENST00000592701.1 |
| exon_skip_290625 | 17 | 42964030:42964118:42971612:42971893:42976736:42976771 | 42971612:42971893 | ENSG00000108883.8 | ENST00000592408.1 |
| exon_skip_290626 | 17 | 42964030:42964118:42971784:42971893:42976736:42976771 | 42971784:42971893 | ENSG00000108883.8 | ENST00000592576.1,ENST00000589825.1 |
| exon_skip_290628 | 17 | 42971784:42971893:42973193:42973357:42976342:42976409 | 42973193:42973357 | ENSG00000108883.8 | ENST00000592701.1 |
| exon_skip_290630 | 17 | 42971784:42971893:42976342:42976409:42976736:42976771 | 42976342:42976409 | ENSG00000108883.8 | ENST00000593072.1 |
| 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 EFTUD2 |
| 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 |
| ENST00000426333 | 42929776 | 42929930 | Frame-shift |
| ENST00000591382 | 42929776 | 42929930 | Frame-shift |
| ENST00000426333 | 42930663 | 42930758 | Frame-shift |
| ENST00000591382 | 42930663 | 42930758 | Frame-shift |
| ENST00000426333 | 42934442 | 42934525 | Frame-shift |
| ENST00000591382 | 42934442 | 42934525 | Frame-shift |
| ENST00000426333 | 42940080 | 42940274 | Frame-shift |
| ENST00000591382 | 42940080 | 42940274 | Frame-shift |
| ENST00000426333 | 42949813 | 42949938 | Frame-shift |
| ENST00000591382 | 42949813 | 42949938 | Frame-shift |
| ENST00000426333 | 42956923 | 42957006 | Frame-shift |
| ENST00000591382 | 42956923 | 42957006 | Frame-shift |
| ENST00000426333 | 42963952 | 42964118 | Frame-shift |
| ENST00000591382 | 42963952 | 42964118 | Frame-shift |
| ENST00000426333 | 42929077 | 42929185 | In-frame |
| ENST00000591382 | 42929077 | 42929185 | In-frame |
| ENST00000426333 | 42936447 | 42936549 | In-frame |
| ENST00000591382 | 42936447 | 42936549 | In-frame |
| ENST00000426333 | 42937272 | 42937413 | In-frame |
| ENST00000591382 | 42937272 | 42937413 | 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 |
| ENST00000426333 | 42929776 | 42929930 | Frame-shift |
| ENST00000591382 | 42929776 | 42929930 | Frame-shift |
| ENST00000426333 | 42930663 | 42930758 | Frame-shift |
| ENST00000591382 | 42930663 | 42930758 | Frame-shift |
| ENST00000426333 | 42934442 | 42934525 | Frame-shift |
| ENST00000591382 | 42934442 | 42934525 | Frame-shift |
| ENST00000426333 | 42940080 | 42940274 | Frame-shift |
| ENST00000591382 | 42940080 | 42940274 | Frame-shift |
| ENST00000426333 | 42949813 | 42949938 | Frame-shift |
| ENST00000591382 | 42949813 | 42949938 | Frame-shift |
| ENST00000426333 | 42956923 | 42957006 | Frame-shift |
| ENST00000591382 | 42956923 | 42957006 | Frame-shift |
| ENST00000426333 | 42963952 | 42964118 | Frame-shift |
| ENST00000591382 | 42963952 | 42964118 | Frame-shift |
| ENST00000426333 | 42929077 | 42929185 | In-frame |
| ENST00000591382 | 42929077 | 42929185 | In-frame |
| ENST00000426333 | 42936447 | 42936549 | In-frame |
| ENST00000591382 | 42936447 | 42936549 | In-frame |
| ENST00000426333 | 42937272 | 42937413 | In-frame |
| ENST00000591382 | 42937272 | 42937413 | In-frame |
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Infer the effects of exon skipping event on protein functional features for EFTUD2 |
| 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 |
| ENST00000426333 | 4565 | 972 | 42937272 | 42937413 | 2018 | 2158 | 573 | 620 |
| ENST00000591382 | 3692 | 972 | 42937272 | 42937413 | 2118 | 2258 | 573 | 620 |
| ENST00000426333 | 4565 | 972 | 42936447 | 42936549 | 2159 | 2260 | 620 | 654 |
| ENST00000591382 | 3692 | 972 | 42936447 | 42936549 | 2259 | 2360 | 620 | 654 |
| ENST00000426333 | 4565 | 972 | 42929077 | 42929185 | 3014 | 3121 | 905 | 941 |
| ENST00000591382 | 3692 | 972 | 42929077 | 42929185 | 3114 | 3221 | 905 | 941 |
| 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 |
| ENST00000426333 | 4565 | 972 | 42937272 | 42937413 | 2018 | 2158 | 573 | 620 |
| ENST00000591382 | 3692 | 972 | 42937272 | 42937413 | 2118 | 2258 | 573 | 620 |
| ENST00000426333 | 4565 | 972 | 42936447 | 42936549 | 2159 | 2260 | 620 | 654 |
| ENST00000591382 | 3692 | 972 | 42936447 | 42936549 | 2259 | 2360 | 620 | 654 |
| ENST00000426333 | 4565 | 972 | 42929077 | 42929185 | 3014 | 3121 | 905 | 941 |
| ENST00000591382 | 3692 | 972 | 42929077 | 42929185 | 3114 | 3221 | 905 | 941 |
| 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 |
| Q15029 | 573 | 620 | 1 | 972 | Chain | ID=PRO_0000091563;Note=116 kDa U5 small nuclear ribonucleoprotein component |
| Q15029 | 573 | 620 | 1 | 972 | Chain | ID=PRO_0000091563;Note=116 kDa U5 small nuclear ribonucleoprotein component |
| Q15029 | 573 | 620 | 619 | 619 | Sequence conflict | Note=T->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q15029 | 573 | 620 | 619 | 619 | Sequence conflict | Note=T->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q15029 | 620 | 654 | 1 | 972 | Chain | ID=PRO_0000091563;Note=116 kDa U5 small nuclear ribonucleoprotein component |
| Q15029 | 620 | 654 | 1 | 972 | Chain | ID=PRO_0000091563;Note=116 kDa U5 small nuclear ribonucleoprotein component |
| Q15029 | 620 | 654 | 637 | 637 | Natural variant | ID=VAR_067582;Note=In MFDM. L->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22305528;Dbxref=dbSNP:rs387906879,PMID:22305528 |
| Q15029 | 620 | 654 | 637 | 637 | Natural variant | ID=VAR_067582;Note=In MFDM. L->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22305528;Dbxref=dbSNP:rs387906879,PMID:22305528 |
| Q15029 | 905 | 941 | 1 | 972 | Chain | ID=PRO_0000091563;Note=116 kDa U5 small nuclear ribonucleoprotein component |
| Q15029 | 905 | 941 | 1 | 972 | Chain | ID=PRO_0000091563;Note=116 kDa U5 small nuclear ribonucleoprotein component |
| 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 |
| Q15029 | 573 | 620 | 1 | 972 | Chain | ID=PRO_0000091563;Note=116 kDa U5 small nuclear ribonucleoprotein component |
| Q15029 | 573 | 620 | 1 | 972 | Chain | ID=PRO_0000091563;Note=116 kDa U5 small nuclear ribonucleoprotein component |
| Q15029 | 573 | 620 | 619 | 619 | Sequence conflict | Note=T->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q15029 | 573 | 620 | 619 | 619 | Sequence conflict | Note=T->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q15029 | 620 | 654 | 1 | 972 | Chain | ID=PRO_0000091563;Note=116 kDa U5 small nuclear ribonucleoprotein component |
| Q15029 | 620 | 654 | 1 | 972 | Chain | ID=PRO_0000091563;Note=116 kDa U5 small nuclear ribonucleoprotein component |
| Q15029 | 620 | 654 | 637 | 637 | Natural variant | ID=VAR_067582;Note=In MFDM. L->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22305528;Dbxref=dbSNP:rs387906879,PMID:22305528 |
| Q15029 | 620 | 654 | 637 | 637 | Natural variant | ID=VAR_067582;Note=In MFDM. L->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22305528;Dbxref=dbSNP:rs387906879,PMID:22305528 |
| Q15029 | 905 | 941 | 1 | 972 | Chain | ID=PRO_0000091563;Note=116 kDa U5 small nuclear ribonucleoprotein component |
| Q15029 | 905 | 941 | 1 | 972 | Chain | ID=PRO_0000091563;Note=116 kDa U5 small nuclear ribonucleoprotein component |
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SNVs in the skipped exons for EFTUD2 |
| - 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-A1EG-01 | exon_skip_290592 | 42929078 | 42929185 | 42929092 | 42929092 | Frame_Shift_Del | T | - | p.T937fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_290593 exon_skip_290594 | 42929777 | 42929930 | 42929803 | 42929803 | Frame_Shift_Del | A | - | p.S897fs |
| SKCM | TCGA-EE-A2MT-06 | exon_skip_290593 exon_skip_290594 | 42929777 | 42929930 | 42929896 | 42929896 | Frame_Shift_Del | A | - | p.S856fs |
| SKCM | TCGA-EE-A2MT-06 | exon_skip_290593 exon_skip_290594 | 42929777 | 42929930 | 42929896 | 42929896 | Frame_Shift_Del | A | - | p.S866fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_290593 exon_skip_290594 | 42929777 | 42929930 | 42929901 | 42929901 | Frame_Shift_Del | G | - | p.P864fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_290619 | 42949814 | 42949938 | 42949882 | 42949882 | Frame_Shift_Del | A | - | p.F309fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_290619 | 42949814 | 42949938 | 42949903 | 42949903 | Frame_Shift_Del | G | - | p.P302fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_290619 | 42949814 | 42949938 | 42949907 | 42949907 | Frame_Shift_Del | A | - | p.S301fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_290622 | 42963953 | 42964118 | 42964066 | 42964066 | Frame_Shift_Del | G | - | p.P53fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_290625 | 42971613 | 42971893 | 42971839 | 42971839 | Frame_Shift_Del | A | - | p.L17fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_290626 | 42971785 | 42971893 | 42971839 | 42971839 | Frame_Shift_Del | A | - | p.L17fs |
| SKCM | TCGA-ER-A19T-01 | exon_skip_290592 | 42929078 | 42929185 | 42929088 | 42929089 | Frame_Shift_Ins | - | G | p.P938fs |
| ACC | TCGA-OR-A5KB-01 | exon_skip_290598 | 42930664 | 42930758 | 42930702 | 42930703 | Frame_Shift_Ins | - | TC | p.D806fs |
| ACC | TCGA-OR-A5KB-01 | exon_skip_290598 | 42930664 | 42930758 | 42930702 | 42930703 | Frame_Shift_Ins | - | TC | p.D841fs |
| ACC | TCGA-OR-A5KB-01 | exon_skip_290598 | 42930664 | 42930758 | 42930702 | 42930703 | Frame_Shift_Ins | - | TC | p.V841fs |
| SARC | TCGA-HB-A43Z-01 | exon_skip_290593 exon_skip_290594 | 42929777 | 42929930 | 42929917 | 42929917 | Nonsense_Mutation | G | A | p.Q859* |
| BLCA | TCGA-GU-AATP-01 | exon_skip_290598 | 42930664 | 42930758 | 42930716 | 42930716 | Nonsense_Mutation | G | A | p.Q837* |
| THYM | TCGA-X7-A8DF-01 | exon_skip_290625 | 42971613 | 42971893 | 42971805 | 42971805 | Nonsense_Mutation | C | A | p.E29X |
| THYM | TCGA-X7-A8DF-01 | exon_skip_290626 | 42971785 | 42971893 | 42971805 | 42971805 | Nonsense_Mutation | C | A | p.E29X |
| LIHC | TCGA-EP-A2KA-01 | exon_skip_290612 | 42937273 | 42937413 | 42937415 | 42937415 | Splice_Site | T | C | . |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-X7-A8DF-01 |
| Cancer type: THYM | |
| ESID: exon_skip_290626 | |
| Skipped exon start: 42971785 | |
| Skipped exon end: 42971893 | |
| Mutation start: 42971805 | |
| Mutation end: 42971805 | |
| Mutation type: Nonsense_Mutation | |
| Reference seq: C | |
| Mutation seq: A | |
| AAchange: p.E29X | |
| Sample: TCGA-X7-A8DF-01 |
| Cancer type: THYM | |
| ESID: exon_skip_290625 | |
| Skipped exon start: 42971613 | |
| Skipped exon end: 42971893 | |
| Mutation start: 42971805 | |
| Mutation end: 42971805 | |
| Mutation type: Nonsense_Mutation | |
| Reference seq: C | |
| Mutation seq: A | |
| AAchange: p.E29X | |
exon_skip_124365_THYM_TCGA-X7-A8DF-01.png | |
exon_skip_290625_THYM_TCGA-X7-A8DF-01.png | |
exon_skip_32096_THYM_TCGA-X7-A8DF-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 |
| T3M10_LUNG | 42929078 | 42929185 | 42929099 | 42929099 | Missense_Mutation | C | A | p.M934I |
| LN428_CENTRAL_NERVOUS_SYSTEM | 42929078 | 42929185 | 42929146 | 42929146 | Missense_Mutation | G | A | p.R919C |
| FTC238_THYROID | 42929777 | 42929930 | 42929829 | 42929829 | Missense_Mutation | C | T | p.R888Q |
| FTC133_THYROID | 42929777 | 42929930 | 42929829 | 42929829 | Missense_Mutation | C | T | p.R888Q |
| HCT15_LARGE_INTESTINE | 42934443 | 42934525 | 42934518 | 42934518 | Missense_Mutation | T | C | p.D657G |
| HEC59_ENDOMETRIUM | 42936448 | 42936549 | 42936477 | 42936477 | Missense_Mutation | G | A | p.R645W |
| CCK81_LARGE_INTESTINE | 42936448 | 42936549 | 42936534 | 42936534 | Missense_Mutation | C | T | p.E626K |
| MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 42937273 | 42937413 | 42937310 | 42937310 | Missense_Mutation | C | T | p.R608H |
| SNU1040_LARGE_INTESTINE | 42937273 | 42937413 | 42937310 | 42937310 | Missense_Mutation | C | T | p.R608H |
| NCIH345_LUNG | 42937273 | 42937413 | 42937359 | 42937359 | Missense_Mutation | C | A | p.V592L |
| SNU175_LARGE_INTESTINE | 42937273 | 42937413 | 42937373 | 42937373 | Missense_Mutation | A | G | p.V587A |
| NCIH1930_LUNG | 42940081 | 42940274 | 42940151 | 42940151 | Missense_Mutation | T | A | p.N513Y |
| NCIH1155_LUNG | 42940081 | 42940274 | 42940180 | 42940180 | Missense_Mutation | G | A | p.A503V |
| SNUC5_LARGE_INTESTINE | 42940081 | 42940274 | 42940225 | 42940225 | Missense_Mutation | A | G | p.V488A |
| JHH7_LIVER | 42949814 | 42949938 | 42949832 | 42949832 | Missense_Mutation | T | A | p.I326F |
| MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 42949814 | 42949938 | 42949833 | 42949833 | Missense_Mutation | C | A | p.K325N |
| SW48_LARGE_INTESTINE | 42949814 | 42949938 | 42949847 | 42949847 | Missense_Mutation | C | T | p.G321S |
| SNU503_LARGE_INTESTINE | 42949814 | 42949938 | 42949852 | 42949852 | Missense_Mutation | G | A | p.T319M |
| HEC50B_ENDOMETRIUM | 42949814 | 42949938 | 42949888 | 42949888 | Missense_Mutation | A | G | p.V307A |
| HDLM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 42956924 | 42957006 | 42956946 | 42956946 | Missense_Mutation | A | C | p.L227R |
| HEC151_ENDOMETRIUM | 42963953 | 42964118 | 42963962 | 42963962 | Missense_Mutation | G | A | p.P88S |
| JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 42963953 | 42964118 | 42964079 | 42964079 | Missense_Mutation | C | T | p.D49N |
| TASK1_CENTRAL_NERVOUS_SYSTEM | 42963953 | 42964118 | 42964100 | 42964100 | Missense_Mutation | C | T | p.D42N |
| NCIH596_LUNG | 42971785 | 42971893 | 42971793 | 42971793 | Missense_Mutation | G | C | p.L33V |
| NCIH596_LUNG | 42971613 | 42971893 | 42971793 | 42971793 | Missense_Mutation | G | C | p.L33V |
| EN_ENDOMETRIUM | 42971785 | 42971893 | 42971835 | 42971835 | Missense_Mutation | A | G | p.S19P |
| EN_ENDOMETRIUM | 42971613 | 42971893 | 42971835 | 42971835 | Missense_Mutation | A | G | p.S19P |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for EFTUD2 |
| 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_290630 | 17 | 42971784:42971893:42976342:42976409:42976736:42976771 | 42976342:42976409 | ENST00000593072.1 | SARC | rs16939676 | chr17:42976347 | C/A | 1.25e-03 |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for EFTUD2 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for EFTUD2 |
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RelatedDrugs for EFTUD2 |
| 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 EFTUD2 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| EFTUD2 | C1864652 | Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate | 1 | ORPHANET;UNIPROT |
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