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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 PHF6 |
 Gene summary |
| Gene information | Gene symbol | PHF6 | Gene ID | 84295 |
| Gene name | PHD finger protein 6 | |
| Synonyms | BFLS|BORJ|CENP-31 | |
| Cytomap | Xq26.2 | |
| Type of gene | protein-coding | |
| Description | PHD finger protein 6PHD-like zinc finger proteincentromere protein 31 | |
| Modification date | 20180519 | |
| UniProtAcc | Q8IWS0 | |
| Context | PubMed: PHF6 [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 |
| PHF6 | GO:0000122 | negative regulation of transcription by RNA polymerase II | 24554700 |
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Exon skipping events across known transcript of Ensembl for PHF6 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 PHF6 |
| 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 PHF6 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_512398 | X | 133507402:133507497:133511601:133511785:133527530:133527664 | 133511601:133511785 | ENSG00000156531.12 | ENST00000416404.2 |
| exon_skip_512399 | X | 133511601:133511785:133512034:133512136:133527530:133527664 | 133512034:133512136 | ENSG00000156531.12 | ENST00000332070.3,ENST00000394292.1,ENST00000370799.1,ENST00000370800.4,ENST00000370803.3 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for PHF6 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_512398 | X | 133507402:133507497:133511601:133511785:133527530:133527664 | 133511601:133511785 | ENSG00000156531.12 | ENST00000416404.2 |
| exon_skip_512399 | X | 133511601:133511785:133512034:133512136:133527530:133527664 | 133512034:133512136 | ENSG00000156531.12 | ENST00000370803.3,ENST00000332070.3,ENST00000394292.1,ENST00000370799.1,ENST00000370800.4 |
| 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 PHF6 |
| 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 |
| ENST00000332070 | 133512034 | 133512136 | In-frame |
| ENST00000370803 | 133512034 | 133512136 | 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 |
| ENST00000332070 | 133512034 | 133512136 | In-frame |
| ENST00000370803 | 133512034 | 133512136 | In-frame |
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Infer the effects of exon skipping event on protein functional features for PHF6 |
| 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 |
| ENST00000332070 | 4776 | 365 | 133512034 | 133512136 | 341 | 442 | 46 | 80 |
| ENST00000370803 | 4506 | 365 | 133512034 | 133512136 | 400 | 501 | 46 | 80 |
| 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 |
| ENST00000332070 | 4776 | 365 | 133512034 | 133512136 | 341 | 442 | 46 | 80 |
| ENST00000370803 | 4506 | 365 | 133512034 | 133512136 | 400 | 501 | 46 | 80 |
| 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 PHF6 |
| - 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 |
| UCEC | TCGA-B5-A11R-01 | exon_skip_512398 | 133511602 | 133511785 | 133511652 | 133511652 | Nonsense_Mutation | C | G | p.S2* |
| BLCA | TCGA-CU-A0YO-01 | exon_skip_512399 | 133512035 | 133512136 | 133512098 | 133512098 | Nonsense_Mutation | G | T | p.E68* |
| BLCA | TCGA-G2-A2ES-01 | exon_skip_512398 | 133511602 | 133511785 | 133511786 | 133511786 | Splice_Site | G | A | p.M46_splice |
| - 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 |
| DND41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 133511602 | 133511785 | 133511668 | 133511669 | Frame_Shift_Ins | - | A | p.K8fs |
| NCIH650_LUNG | 133511602 | 133511785 | 133511717 | 133511717 | Missense_Mutation | A | G | p.R24G |
| HCC2218_BREAST | 133512035 | 133512136 | 133512045 | 133512045 | Missense_Mutation | C | G | p.S50C |
| MFE296_ENDOMETRIUM | 133512035 | 133512136 | 133512119 | 133512119 | Missense_Mutation | A | G | p.K75E |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for PHF6 |
| 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 PHF6 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for PHF6 |
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RelatedDrugs for PHF6 |
| 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 PHF6 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| PHF6 | C0265339 | Borjeson-Forssman-Lehmann syndrome | 3 | CTD_human;ORPHANET;UNIPROT |
| PHF6 | C1961099 | Precursor T-Cell Lymphoblastic Leukemia-Lymphoma | 1 | CTD_human |
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