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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 PHF13 |
 Gene summary |
| Gene information | Gene symbol | PHF13 | Gene ID | 148479 |
| Gene name | PHD finger protein 13 | |
| Synonyms | PHF5|SPOC1 | |
| Cytomap | 1p36.31 | |
| Type of gene | protein-coding | |
| Description | PHD finger protein 13PHD zinc finger protein PHF5survival time-associated PHD finger protein in ovarian cancer 1survival time-associated PHD protein in ovarian cancer | |
| Modification date | 20180523 | |
| UniProtAcc | Q86YI8 | |
| Context | PubMed: PHF13 [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 PHF13 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 PHF13 |
| 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 PHF13 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_828 | 1 | 6676816:6676918:6679862:6680397:6681470:6684093 | 6679862:6680397 | ENSG00000116273.5 | ENST00000377648.4 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for PHF13 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| 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 PHF13 |
| 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 |
| ENST00000377648 | 6679862 | 6680397 | 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 |
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Infer the effects of exon skipping event on protein functional features for PHF13 |
| 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 PHF13 |
| - 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 |
| LIHC | TCGA-ES-A2HT-01 | exon_skip_828 | 6679863 | 6680397 | 6679883 | 6679883 | Frame_Shift_Del | C | - | p.S54fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_828 | 6679863 | 6680397 | 6679883 | 6679883 | Frame_Shift_Del | C | - | p.S54fs |
| HNSC | TCGA-CN-5369-01 | exon_skip_828 | 6679863 | 6680397 | 6680128 | 6680128 | Frame_Shift_Del | G | - | p.R136fs |
| STAD | TCGA-BR-8363-01 | exon_skip_828 | 6679863 | 6680397 | 6680128 | 6680128 | Frame_Shift_Del | G | - | p.R136fs |
| UCEC | TCGA-BS-A0U8-01 | exon_skip_828 | 6679863 | 6680397 | 6680128 | 6680128 | Frame_Shift_Del | G | - | p.R136fs |
| LGG | TCGA-HT-8564-01 | exon_skip_828 | 6679863 | 6680397 | 6680127 | 6680128 | Frame_Shift_Ins | - | G | p.G136fs |
| STAD | TCGA-BR-4184-01 | exon_skip_828 | 6679863 | 6680397 | 6680127 | 6680128 | Frame_Shift_Ins | - | G | p.R136fs |
| LGG | TCGA-DU-6392-01 | exon_skip_828 | 6679863 | 6680397 | 6680296 | 6680297 | Frame_Shift_Ins | - | A | p.K192fs |
| UCEC | TCGA-AX-A0J0-01 | exon_skip_828 | 6679863 | 6680397 | 6680292 | 6680292 | Nonsense_Mutation | G | T | p.E191* |
| LUAD | TCGA-44-6774-01 | exon_skip_828 | 6679863 | 6680397 | 6680330 | 6680331 | Nonsense_Mutation | GG | TT | p.203_204QG>H* |
| SKCM | TCGA-EE-A2MR-06 | exon_skip_828 | 6679863 | 6680397 | 6680349 | 6680349 | Nonsense_Mutation | C | T | p.R210* |
| SKCM | TCGA-EE-A2MR-06 | exon_skip_828 | 6679863 | 6680397 | 6680349 | 6680349 | Nonsense_Mutation | C | T | p.R210X |
| UCEC | TCGA-AP-A0LT-01 | exon_skip_828 | 6679863 | 6680397 | 6680349 | 6680349 | Nonsense_Mutation | C | T | p.R210* |
| - 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 |
| HEC59_ENDOMETRIUM | 6679863 | 6680397 | 6679953 | 6679953 | Missense_Mutation | G | A | p.A78T |
| RT4_URINARY_TRACT | 6679863 | 6680397 | 6680010 | 6680010 | Missense_Mutation | C | G | p.L97V |
| TE10_OESOPHAGUS | 6679863 | 6680397 | 6680120 | 6680120 | Missense_Mutation | G | C | p.E133D |
| NCIH2171_LUNG | 6679863 | 6680397 | 6680260 | 6680260 | Missense_Mutation | C | T | p.S180F |
| NCIBL2171_MATCHED_NORMAL_TISSUE | 6679863 | 6680397 | 6680260 | 6680260 | Missense_Mutation | C | T | p.S180F |
| RCK8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 6679863 | 6680397 | 6680326 | 6680326 | Missense_Mutation | G | A | p.R202Q |
| HEC1A_ENDOMETRIUM | 6679863 | 6680397 | 6680019 | 6680019 | Nonsense_Mutation | C | T | p.R100* |
| HEC1_ENDOMETRIUM | 6679863 | 6680397 | 6680019 | 6680019 | Nonsense_Mutation | C | T | p.R100* |
| HEC1B_ENDOMETRIUM | 6679863 | 6680397 | 6680019 | 6680019 | Nonsense_Mutation | C | T | p.R100* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for PHF13 |
| 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 PHF13 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for PHF13 |
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RelatedDrugs for PHF13 |
| 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 PHF13 |
| 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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