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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 PLCXD1 |
 Gene summary |
| Gene information | Gene symbol | PLCXD1 | Gene ID | 55344 |
| Gene name | phosphatidylinositol specific phospholipase C X domain containing 1 | |
| Synonyms | LL0XNC01-136G2.1 | |
| Cytomap | Xp22.33 and Yp11.32-p11.31 | |
| Type of gene | protein-coding | |
| Description | PI-PLC X domain-containing protein 1 | |
| Modification date | 20180519 | |
| UniProtAcc | Q9NUJ7 | |
| Context | PubMed: PLCXD1 [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 PLCXD1 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 PLCXD1 |
| 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 PLCXD1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_508892 | X | 200833:200981:205399:205536:207314:207424 | 205399:205536 | ENSG00000182378.8 | ENST00000430923.2,ENST00000447472.1,ENST00000415337.1,ENST00000484611.2,ENST00000381663.3,ENST00000399012.1,ENST00000381657.2,ENST00000448477.1 |
| exon_skip_508893 | X | 207314:207443:208165:208321:209701:209885 | 208165:208321 | ENSG00000182378.8 | ENST00000381663.3,ENST00000399012.1,ENST00000381657.2 |
| exon_skip_508894 | X | 208165:208321:209701:209885:215763:216132 | 209701:209885 | ENSG00000182378.8 | ENST00000381663.3,ENST00000399012.1,ENST00000381657.2 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for PLCXD1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_508892 | X | 200833:200981:205399:205536:207314:207424 | 205399:205536 | ENSG00000182378.8 | ENST00000399012.1,ENST00000484611.2,ENST00000430923.2,ENST00000381657.2,ENST00000381663.3,ENST00000415337.1,ENST00000447472.1,ENST00000448477.1 |
| exon_skip_508893 | X | 207314:207443:208165:208321:209701:209885 | 208165:208321 | ENSG00000182378.8 | ENST00000399012.1,ENST00000381657.2,ENST00000381663.3 |
| exon_skip_508894 | X | 208165:208321:209701:209885:215763:216132 | 209701:209885 | ENSG00000182378.8 | ENST00000399012.1,ENST00000381657.2,ENST00000381663.3 |
| 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 PLCXD1 |
| 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 |
| ENST00000381657 | 205399 | 205536 | In-frame |
| ENST00000381663 | 205399 | 205536 | In-frame |
| ENST00000399012 | 205399 | 205536 | In-frame |
| ENST00000381657 | 208165 | 208321 | In-frame |
| ENST00000381663 | 208165 | 208321 | In-frame |
| ENST00000399012 | 208165 | 208321 | In-frame |
| ENST00000381657 | 209701 | 209885 | In-frame |
| ENST00000381663 | 209701 | 209885 | In-frame |
| ENST00000399012 | 209701 | 209885 | 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 |
| ENST00000381657 | 205399 | 205536 | In-frame |
| ENST00000381663 | 205399 | 205536 | In-frame |
| ENST00000399012 | 205399 | 205536 | In-frame |
| ENST00000381657 | 208165 | 208321 | In-frame |
| ENST00000381663 | 208165 | 208321 | In-frame |
| ENST00000399012 | 208165 | 208321 | In-frame |
| ENST00000381657 | 209701 | 209885 | In-frame |
| ENST00000381663 | 209701 | 209885 | In-frame |
| ENST00000399012 | 209701 | 209885 | In-frame |
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Infer the effects of exon skipping event on protein functional features for PLCXD1 |
| 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 PLCXD1 |
| - 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 |
| LUSC | TCGA-37-4133-01 | 205400 | 205536 | 205453 | 205453 | Nonsense_Mutation | G | T | p.E61* | |
| HNSC | TCGA-CR-7364-01 | exon_skip_508894 | 209702 | 209885 | 209702 | 209702 | Nonsense_Mutation | G | T | p.E184* |
| - 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 |
| L540_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 205400 | 205536 | 205418 | 205418 | Missense_Mutation | C | T | p.T49M |
| OVK18_OVARY | 205400 | 205536 | 205462 | 205462 | Missense_Mutation | C | T | p.R64W |
| T3M10_LUNG | 205400 | 205536 | 205532 | 205532 | Missense_Mutation | C | A | p.T87N |
| NCIH378_LUNG | 208166 | 208321 | 208194 | 208194 | Missense_Mutation | T | G | p.L141R |
| BFTC909_KIDNEY | 208166 | 208321 | 208215 | 208215 | Missense_Mutation | T | G | p.V148G |
| CAL54_KIDNEY | 208166 | 208321 | 208215 | 208215 | Missense_Mutation | T | G | p.V148G |
| ESO26_OESOPHAGUS | 208166 | 208321 | 208215 | 208215 | Missense_Mutation | T | G | p.V148G |
| NCIH2373_PLEURA | 208166 | 208321 | 208215 | 208215 | Missense_Mutation | T | G | p.V148G |
| RAJI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 209702 | 209885 | 209733 | 209733 | Missense_Mutation | G | A | p.R194Q |
| KURAMOCHI_OVARY | 209702 | 209885 | 209754 | 209754 | Missense_Mutation | C | G | p.S201C |
| LS123_LARGE_INTESTINE | 209702 | 209885 | 209799 | 209799 | Missense_Mutation | C | T | p.P216L |
| LN229_CENTRAL_NERVOUS_SYSTEM | 209702 | 209885 | 209823 | 209823 | Missense_Mutation | A | G | p.N224S |
| LS411N_LARGE_INTESTINE | 209702 | 209885 | 209874 | 209874 | Missense_Mutation | G | A | p.C241Y |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for PLCXD1 |
| 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 PLCXD1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for PLCXD1 |
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RelatedDrugs for PLCXD1 |
| 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 PLCXD1 |
| 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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