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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 EEFSEC |
 Gene summary |
| Gene information | Gene symbol | EEFSEC | Gene ID | 60678 |
| Gene name | eukaryotic elongation factor, selenocysteine-tRNA specific | |
| Synonyms | EFSEC|SELB | |
| Cytomap | 3q21.3 | |
| Type of gene | protein-coding | |
| Description | selenocysteine-specific elongation factorelongation factor for selenoprotein translationelongation factor secselenocysteine (Sec)-specific eukaryotic elongation factor | |
| Modification date | 20180523 | |
| UniProtAcc | P57772 | |
| Context | PubMed: EEFSEC [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 EEFSEC 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 EEFSEC |
| 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 EEFSEC |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_377373 | 3 | 127872510:127872666:127965678:127965886:127980970:127981067 | 127965678:127965886 | ENSG00000132394.6 | ENST00000483457.1 |
| exon_skip_377375 | 3 | 127965678:127965886:127980970:127981067:128060075:128060351 | 127980970:127981067 | ENSG00000132394.6 | ENST00000483457.1 |
| exon_skip_377377 | 3 | 127980970:127981067:127983459:127983624:128060075:128060351 | 127983459:127983624 | ENSG00000132394.6 | ENST00000254730.6 |
| exon_skip_377383 | 3 | 127983459:127983624:128060075:128060732:128077059:128077216 | 128060075:128060732 | ENSG00000132394.6 | ENST00000254730.6 |
| exon_skip_377386 | 3 | 128060075:128060732:128077059:128077216:128126911:128127485 | 128077059:128077216 | ENSG00000132394.6 | ENST00000254730.6 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for EEFSEC |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_377373 | 3 | 127872510:127872666:127965678:127965886:127980970:127981067 | 127965678:127965886 | ENSG00000132394.6 | ENST00000483457.1 |
| exon_skip_377375 | 3 | 127965678:127965886:127980970:127981067:128060075:128060351 | 127980970:127981067 | ENSG00000132394.6 | ENST00000483457.1 |
| exon_skip_377377 | 3 | 127980970:127981067:127983459:127983624:128060075:128060351 | 127983459:127983624 | ENSG00000132394.6 | ENST00000254730.6 |
| exon_skip_377383 | 3 | 127983459:127983624:128060075:128060732:128077059:128077216 | 128060075:128060732 | ENSG00000132394.6 | ENST00000254730.6 |
| exon_skip_377386 | 3 | 128060075:128060732:128077059:128077216:128126911:128127485 | 128077059:128077216 | ENSG00000132394.6 | ENST00000254730.6 |
| 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 EEFSEC |
| 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 |
| 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 |
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Infer the effects of exon skipping event on protein functional features for EEFSEC |
| 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 EEFSEC |
| - 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. |
EEFSEC_HNSC_exon_skip_377383_psi_boxplot.png |
EEFSEC_LIHC_exon_skip_377383_psi_boxplot.png |
EEFSEC_STAD_exon_skip_377383_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-DD-A3A0-01 | exon_skip_377373 | 127965679 | 127965886 | 127965801 | 127965801 | Frame_Shift_Del | A | - | p.K147fs |
| PRAD | TCGA-XK-AAJA-01 | exon_skip_377373 | 127965679 | 127965886 | 127965801 | 127965801 | Frame_Shift_Del | A | - | p.K147fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_377375 | 127980971 | 127981067 | 127980978 | 127980978 | Frame_Shift_Del | G | - | p.G178fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_377375 | 127980971 | 127981067 | 127981010 | 127981010 | Frame_Shift_Del | G | - | p.P188fs |
| STAD | TCGA-HU-A4GQ-01 | exon_skip_377375 | 127980971 | 127981067 | 127981010 | 127981010 | Frame_Shift_Del | G | - | p.P188fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_377375 | 127980971 | 127981067 | 127981024 | 127981024 | Frame_Shift_Del | C | - | p.A193fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_377383 | 128060076 | 128060732 | 128060203 | 128060203 | Frame_Shift_Del | C | - | p.A305fs |
| LGG | TCGA-TQ-A7RR-01 | exon_skip_377383 | 128060076 | 128060732 | 128060266 | 128060266 | Frame_Shift_Del | G | - | p.R326fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_377386 | 128077060 | 128077216 | 128077185 | 128077185 | Frame_Shift_Del | C | - | p.G523fs |
| STAD | TCGA-BR-8372-01 | exon_skip_377383 | 128060076 | 128060732 | 128060202 | 128060203 | Frame_Shift_Ins | - | C | p.A305fs |
| STAD | TCGA-BR-8372-01 | exon_skip_377383 | 128060076 | 128060732 | 128060203 | 128060204 | Frame_Shift_Ins | - | C | p.A305fs |
| SKCM | TCGA-EE-A3AG-06 | exon_skip_377383 | 128060076 | 128060732 | 128060522 | 128060522 | Nonsense_Mutation | G | A | p.W411* |
| SKCM | TCGA-EE-A3AG-06 | exon_skip_377383 | 128060076 | 128060732 | 128060522 | 128060522 | Nonsense_Mutation | G | A | p.W411X |
| HNSC | TCGA-CR-7402-01 | exon_skip_377383 | 128060076 | 128060732 | 128060074 | 128060074 | Splice_Site | A | T | p.V263_splice |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-CR-7402-01 |
| Cancer type: HNSC | |
| ESID: exon_skip_377383 | |
| Skipped exon start: 128060076 | |
| Skipped exon end: 128060732 | |
| Mutation start: 128060074 | |
| Mutation end: 128060074 | |
| Mutation type: Splice_Site | |
| Reference seq: A | |
| Mutation seq: T | |
| AAchange: p.V263_splice | |
exon_skip_314127_HNSC_TCGA-CR-7402-01.png | |
exon_skip_377383_HNSC_TCGA-CR-7402-01.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 |
| NCIH1184_LUNG | 127980971 | 127981067 | 127981009 | 127981010 | Frame_Shift_Ins | - | G | p.PG188fs |
| OCIAML2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 128077060 | 128077216 | 128077110 | 128077111 | Frame_Shift_Ins | - | A | p.N499fs |
| SNU719_STOMACH | 127965679 | 127965886 | 127965688 | 127965688 | Missense_Mutation | T | G | p.I109S |
| HCC2998_LARGE_INTESTINE | 127965679 | 127965886 | 127965847 | 127965847 | Missense_Mutation | A | C | p.K162T |
| HCC1359_LUNG | 127980971 | 127981067 | 127980996 | 127980996 | Missense_Mutation | G | A | p.V184M |
| HCC2108_LUNG | 127980971 | 127981067 | 127981023 | 127981023 | Missense_Mutation | G | C | p.A193P |
| GP5D_LARGE_INTESTINE | 127983460 | 127983624 | 127983494 | 127983494 | Missense_Mutation | A | G | p.D219G |
| JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 127983460 | 127983624 | 127983518 | 127983518 | Missense_Mutation | C | T | p.S227F |
| SNU81_LARGE_INTESTINE | 127983460 | 127983624 | 127983521 | 127983521 | Missense_Mutation | T | C | p.V228A |
| FTC238_THYROID | 128060076 | 128060732 | 128060115 | 128060115 | Missense_Mutation | C | T | p.P276S |
| JEG3_PLACENTA | 128060076 | 128060732 | 128060230 | 128060230 | Missense_Mutation | C | T | p.A314V |
| RF48_STOMACH | 128060076 | 128060732 | 128060368 | 128060368 | Missense_Mutation | A | G | p.Q360R |
| HCC2998_LARGE_INTESTINE | 128060076 | 128060732 | 128060396 | 128060396 | Missense_Mutation | C | A | p.F369L |
| NCIH28_PLEURA | 128060076 | 128060732 | 128060400 | 128060400 | Missense_Mutation | C | G | p.Q371E |
| SNU1040_LARGE_INTESTINE | 128060076 | 128060732 | 128060454 | 128060454 | Missense_Mutation | A | G | p.T389A |
| HDLM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 128060076 | 128060732 | 128060529 | 128060529 | Missense_Mutation | G | T | p.V414L |
| WM1799_SKIN | 128060076 | 128060732 | 128060584 | 128060584 | Missense_Mutation | G | A | p.R432K |
| NCIH630_LARGE_INTESTINE | 128060076 | 128060732 | 128060587 | 128060587 | Missense_Mutation | T | C | p.L433P |
| PC3_PROSTATE | 128060076 | 128060732 | 128060616 | 128060616 | Missense_Mutation | C | T | p.R443W |
| PC3JPC3_LUNG | 128060076 | 128060732 | 128060616 | 128060616 | Missense_Mutation | C | T | p.R443W |
| UACC893_BREAST | 128060076 | 128060732 | 128060718 | 128060718 | Missense_Mutation | G | A | p.G477S |
| MEC1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 128060076 | 128060732 | 128060724 | 128060724 | Missense_Mutation | G | T | p.V479L |
| SN12C_KIDNEY | 128077060 | 128077216 | 128077077 | 128077077 | Missense_Mutation | T | A | p.S487R |
| M14_SKIN | 128077060 | 128077216 | 128077091 | 128077091 | Missense_Mutation | C | T | p.S492F |
| MDAMB435S_SKIN | 128077060 | 128077216 | 128077091 | 128077091 | Missense_Mutation | C | T | p.S492F |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for EEFSEC |
| 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_377377 | 3 | 127980970:127981067:127983459:127983624:128060075:128060351 | 127983459:127983624 | ENST00000254730.6 | THCA | rs2811544 | chr3:127983495 | T/C | 1.38e-04 |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for EEFSEC |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for EEFSEC |
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RelatedDrugs for EEFSEC |
| 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 EEFSEC |
| 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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