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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 EXOC3L4 |
 Gene summary |
| Gene information | Gene symbol | EXOC3L4 | Gene ID | 91828 |
| Gene name | exocyst complex component 3 like 4 | |
| Synonyms | C14orf73 | |
| Cytomap | 14q32.32 | |
| Type of gene | protein-coding | |
| Description | exocyst complex component 3-like protein 4SEC6-like protein C14orf73 | |
| Modification date | 20180523 | |
| UniProtAcc | Q17RC7 | |
| Context | PubMed: EXOC3L4 [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 EXOC3L4 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 EXOC3L4 |
| 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 EXOC3L4 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_110281 | 14 | 103570686:103570726:103571074:103571175:103571328:103571409 | 103571074:103571175 | ENSG00000205436.3 | ENST00000380069.3 |
| exon_skip_110285 | 14 | 103573852:103573880:103573967:103574120:103574732:103574854 | 103573967:103574120 | ENSG00000205436.3 | ENST00000560304.1,ENST00000559661.1,ENST00000560925.1,ENST00000380069.3 |
| exon_skip_110288 | 14 | 103574732:103574854:103576367:103576521:103576696:103576896 | 103576367:103576521 | ENSG00000205436.3 | ENST00000560304.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for EXOC3L4 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_110281 | 14 | 103570686:103570726:103571074:103571175:103571328:103571409 | 103571074:103571175 | ENSG00000205436.3 | ENST00000380069.3 |
| exon_skip_110285 | 14 | 103573852:103573880:103573967:103574120:103574732:103574854 | 103573967:103574120 | ENSG00000205436.3 | ENST00000380069.3,ENST00000560925.1,ENST00000559661.1,ENST00000560304.1 |
| exon_skip_110288 | 14 | 103574732:103574854:103576367:103576521:103576696:103576896 | 103576367:103576521 | ENSG00000205436.3 | ENST00000560304.1 |
| 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 EXOC3L4 |
| 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 |
| ENST00000380069 | 103571074 | 103571175 | Frame-shift |
| ENST00000380069 | 103573967 | 103574120 | 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 |
| ENST00000380069 | 103571074 | 103571175 | Frame-shift |
| ENST00000380069 | 103573967 | 103574120 | In-frame |
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Infer the effects of exon skipping event on protein functional features for EXOC3L4 |
| 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 |
| ENST00000380069 | 2310 | 722 | 103573967 | 103574120 | 1778 | 1930 | 567 | 618 |
| 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 |
| ENST00000380069 | 2310 | 722 | 103573967 | 103574120 | 1778 | 1930 | 567 | 618 |
| 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 |
| Q17RC7 | 567 | 618 | 1 | 722 | Chain | ID=PRO_0000274380;Note=Exocyst complex component 3-like protein 4 |
| 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 |
| Q17RC7 | 567 | 618 | 1 | 722 | Chain | ID=PRO_0000274380;Note=Exocyst complex component 3-like protein 4 |
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SNVs in the skipped exons for EXOC3L4 |
| - 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 |
| LGG | TCGA-P5-A72W-01 | exon_skip_110281 | 103571075 | 103571175 | 103571146 | 103571146 | Frame_Shift_Del | C | - | p.C452fs |
| UCS | TCGA-N7-A4Y0-01 | exon_skip_110285 | 103573968 | 103574120 | 103573972 | 103573973 | Frame_Shift_Del | CT | - | p.T569fs |
| - 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 |
| HCT116_LARGE_INTESTINE | 103571075 | 103571175 | 103571099 | 103571099 | Missense_Mutation | G | A | p.A437T |
| MKN74_STOMACH | 103571075 | 103571175 | 103571139 | 103571139 | Missense_Mutation | G | C | p.R450P |
| MFE296_ENDOMETRIUM | 103573968 | 103574120 | 103574032 | 103574032 | Missense_Mutation | G | A | p.R589Q |
| KYSE70_OESOPHAGUS | 103576368 | 103576521 | 103576399 | 103576399 | Missense_Mutation | C | T | p.R670C |
| H9_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 103576368 | 103576521 | 103576418 | 103576418 | Missense_Mutation | G | A | p.R676Q |
| NCIH1105_LUNG | 103573968 | 103574120 | 103574004 | 103574004 | Nonsense_Mutation | G | T | p.E580* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for EXOC3L4 |
| 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 EXOC3L4 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for EXOC3L4 |
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RelatedDrugs for EXOC3L4 |
| 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 EXOC3L4 |
| 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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