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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 PSD3 |
 Gene summary |
| Gene information | Gene symbol | PSD3 | Gene ID | 23362 |
| Gene name | pleckstrin and Sec7 domain containing 3 | |
| Synonyms | EFA6D|EFA6R|HCA67 | |
| Cytomap | 8p22 | |
| Type of gene | protein-coding | |
| Description | PH and SEC7 domain-containing protein 3ADP-ribosylation factor guanine nucleotide factor 6epididymis tissue protein Li 20mPexchange factor for ADP-ribosylation factor guanine nucleotide factor 6exchange factor for ADP-ribosylation factor guanine nucle | |
| Modification date | 20180523 | |
| UniProtAcc | Q9NYI0 | |
| Context | PubMed: PSD3 [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 PSD3 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 PSD3 |
| 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 PSD3 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_488568 | 8 | 18432637:18432795:18457873:18457944:18490122:18490316 | 18457873:18457944 | ENSG00000156011.12 | ENST00000327040.8,ENST00000523619.1,ENST00000440756.2,ENST00000286485.8,ENST00000428502.2,ENST00000518315.1 |
| exon_skip_488569 | 8 | 18513151:18513195:18622958:18623048:18656804:18656863 | 18622958:18623048 | ENSG00000156011.12 | ENST00000327040.8,ENST00000523619.1,ENST00000286485.8 |
| exon_skip_488571 | 8 | 18622958:18623048:18632336:18632448:18656804:18656863 | 18632336:18632448 | ENSG00000156011.12 | ENST00000518315.1 |
| exon_skip_488572 | 8 | 18658779:18658892:18659840:18659862:18662031:18662112 | 18659840:18659862 | ENSG00000156011.12 | ENST00000517971.1 |
| exon_skip_488573 | 8 | 18659785:18659862:18660671:18660789:18662031:18662112 | 18660671:18660789 | ENSG00000156011.12 | ENST00000521027.1 |
| exon_skip_488574 | 8 | 18729135:18730243:18793543:18793652:18871072:18871196 | 18793543:18793652 | ENSG00000156011.12 | ENST00000440756.2 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for PSD3 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_488568 | 8 | 18432637:18432795:18457873:18457944:18490122:18490316 | 18457873:18457944 | ENSG00000156011.12 | ENST00000327040.8,ENST00000440756.2,ENST00000286485.8,ENST00000428502.2,ENST00000523619.1,ENST00000518315.1 |
| exon_skip_488569 | 8 | 18513151:18513195:18622958:18623048:18656804:18656863 | 18622958:18623048 | ENSG00000156011.12 | ENST00000327040.8,ENST00000286485.8,ENST00000523619.1 |
| exon_skip_488571 | 8 | 18622958:18623048:18632336:18632448:18656804:18656863 | 18632336:18632448 | ENSG00000156011.12 | ENST00000518315.1 |
| exon_skip_488572 | 8 | 18658779:18658892:18659840:18659862:18662031:18662112 | 18659840:18659862 | ENSG00000156011.12 | ENST00000517971.1 |
| exon_skip_488573 | 8 | 18659785:18659862:18660671:18660789:18662031:18662112 | 18660671:18660789 | ENSG00000156011.12 | ENST00000521027.1 |
| exon_skip_488574 | 8 | 18729135:18730243:18793543:18793652:18871072:18871196 | 18793543:18793652 | ENSG00000156011.12 | ENST00000440756.2 |
| 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 PSD3 |
| 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 |
| ENST00000440756 | 18457873 | 18457944 | Frame-shift |
| ENST00000440756 | 18793543 | 18793652 | Frame-shift |
| 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 |
| ENST00000440756 | 18457873 | 18457944 | Frame-shift |
| ENST00000440756 | 18793543 | 18793652 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for PSD3 |
| 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 PSD3 |
| - 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 |
| BLCA | TCGA-4Z-AA7O-01 | exon_skip_488569 | 18622959 | 18623048 | 18623024 | 18623024 | Nonsense_Mutation | G | A | p.Q705* |
| SKCM | TCGA-D9-A4Z3-01 | exon_skip_488574 | 18793544 | 18793652 | 18793653 | 18793653 | Splice_Site | C | T | . |
| - 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 |
| RKO_LARGE_INTESTINE | 18622959 | 18623048 | 18623015 | 18623015 | Missense_Mutation | T | C | p.I706V |
| HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 18622959 | 18623048 | 18623030 | 18623030 | Missense_Mutation | T | G | p.T701P |
| EFO27_OVARY | 18793544 | 18793652 | 18793584 | 18793584 | Missense_Mutation | T | A | p.E30D |
| HEC265_ENDOMETRIUM | 18793544 | 18793652 | 18793630 | 18793630 | Missense_Mutation | T | C | p.N15S |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for PSD3 |
| 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 PSD3 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for PSD3 |
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RelatedDrugs for PSD3 |
| 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 PSD3 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| PSD3 | C0017638 | Glioma | 1 | CTD_human |
| PSD3 | C0036341 | Schizophrenia | 1 | PSYGENET |
| PSD3 | C0236733 | Amphetamine-Related Disorders | 1 | CTD_human |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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