|
||||||
|
 | |
| |
| |
| |
| Open reading frame (ORF) annotation in the exon skipping event |
| |
| |
| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
| Splicing Quantitative Trait Methylation (sQTM) in the skipped exon |
| |
|
Gene summary for PELP1 |
 Gene summary |
| Gene information | Gene symbol | PELP1 | Gene ID | 27043 |
| Gene name | proline, glutamate and leucine rich protein 1 | |
| Synonyms | MNAR|P160 | |
| Cytomap | 17p13.2 | |
| Type of gene | protein-coding | |
| Description | proline-, glutamic acid- and leucine-rich protein 1modulator of non-genomic activity of estrogen receptorproline and glutamic acid rich nuclear proteintranscription factor HMX3 | |
| Modification date | 20180519 | |
| UniProtAcc | Q8IZL8 | |
| Context | PubMed: PELP1 [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 |
| PELP1 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 17505058 |
| PELP1 | GO:0071391 | cellular response to estrogen stimulus | 17505058 |
Top |
Exon skipping events across known transcript of Ensembl for PELP1 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. |
 |
Top |
Gene isoform structures and expression levels for PELP1 |
| Expression levels of gene isoforms across TCGA. |
 |
| Expression levels of gene isoforms across GTEx. |
 |
Top |
Exon skipping events with PSIs in TCGA for PELP1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_285731 | 17 | 4576544:4576751:4576913:4576969:4577804:4577964 | 4576913:4576969 | ENSG00000141456.10 | ENST00000436683.2,ENST00000574876.1,ENST00000572293.1,ENST00000573523.1,ENST00000575329.1,ENST00000301396.4 |
| exon_skip_285734 | 17 | 4579091:4579179:4579330:4579457:4579651:4579802 | 4579330:4579457 | ENSG00000141456.10 | ENST00000436683.2,ENST00000574876.1,ENST00000572293.1,ENST00000573523.1,ENST00000575329.1,ENST00000269230.7,ENST00000301396.4 |
| exon_skip_285738 | 17 | 4579795:4579802:4580047:4580107:4585796:4585868 | 4580047:4580107 | ENSG00000141456.10 | ENST00000436683.2,ENST00000570571.1,ENST00000574876.1,ENST00000572293.1,ENST00000573523.1,ENST00000575329.1,ENST00000269230.7,ENST00000570387.1,ENST00000301396.4 |
| exon_skip_285740 | 17 | 4586097:4586247:4586324:4586406:4594182:4594288 | 4586324:4586406 | ENSG00000141456.10 | ENST00000436683.2,ENST00000575329.1 |
| PSI values of skipped exons in TCGA. |
 |
Top |
Exon skipping events with PSIs in GTEx for PELP1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_285731 | 17 | 4576544:4576751:4576913:4576969:4577804:4577964 | 4576913:4576969 | ENSG00000141456.10 | ENST00000574876.1,ENST00000572293.1,ENST00000301396.4,ENST00000573523.1,ENST00000575329.1,ENST00000436683.2 |
| exon_skip_285734 | 17 | 4579091:4579179:4579330:4579457:4579651:4579802 | 4579330:4579457 | ENSG00000141456.10 | ENST00000574876.1,ENST00000572293.1,ENST00000301396.4,ENST00000269230.7,ENST00000573523.1,ENST00000575329.1,ENST00000436683.2 |
| exon_skip_285738 | 17 | 4579795:4579802:4580047:4580107:4585796:4585868 | 4580047:4580107 | ENSG00000141456.10 | ENST00000574876.1,ENST00000572293.1,ENST00000301396.4,ENST00000269230.7,ENST00000573523.1,ENST00000575329.1,ENST00000436683.2,ENST00000570571.1,ENST00000570387.1 |
| PSI values of skipped exons in GTEx. |
 |
| * Skipped exon sequences. |
Top |
Open reading frame (ORF) annotation in the exon skipping event for PELP1 |
| 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 |
| ENST00000574876 | 4576913 | 4576969 | Frame-shift |
| ENST00000574876 | 4579330 | 4579457 | Frame-shift |
| ENST00000574876 | 4580047 | 4580107 | 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 |
| ENST00000574876 | 4576913 | 4576969 | Frame-shift |
| ENST00000574876 | 4579330 | 4579457 | Frame-shift |
| ENST00000574876 | 4580047 | 4580107 | In-frame |
Top |
Infer the effects of exon skipping event on protein functional features for PELP1 |
| Exon skipping at the protein sequence level and followed lost functional features. * Click on the image to enlarge it in a new window. |
 |
| 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 |
| ENST00000574876 | 3483 | 1130 | 4580047 | 4580107 | 661 | 720 | 214 | 234 |
| 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 |
| ENST00000574876 | 3483 | 1130 | 4580047 | 4580107 | 661 | 720 | 214 | 234 |
| 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 |
| Q8IZL8 | 214 | 234 | 2 | 1130 | Chain | ID=PRO_0000252135;Note=Proline-%2C glutamic acid- and leucine-rich protein 1 |
| 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 |
| Q8IZL8 | 214 | 234 | 2 | 1130 | Chain | ID=PRO_0000252135;Note=Proline-%2C glutamic acid- and leucine-rich protein 1 |
Top |
SNVs in the skipped exons for PELP1 |
| - Lollipop plot for presenting exon skipping associated SNVs. * Click on the image to enlarge it in a new window. |
 |
| - 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 |
| PRAD | TCGA-YL-A8SQ-01 | exon_skip_285738 | 4580048 | 4580107 | 4580059 | 4580059 | Frame_Shift_Del | G | - | p.Q231fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_285738 | 4580048 | 4580107 | 4580087 | 4580087 | Frame_Shift_Del | A | - | p.F221fs |
| - 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 |
| NCIH1793_LUNG | 4579331 | 4579457 | 4579364 | 4579364 | Missense_Mutation | G | A | p.S316L |
| HEC108_ENDOMETRIUM | 4579331 | 4579457 | 4579376 | 4579376 | Missense_Mutation | C | T | p.R312Q |
| HCT15_LARGE_INTESTINE | 4579331 | 4579457 | 4579377 | 4579377 | Missense_Mutation | G | A | p.R312W |
| MAC2A_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 4579331 | 4579457 | 4579389 | 4579389 | Missense_Mutation | G | A | p.L308F |
| EN_ENDOMETRIUM | 4579331 | 4579457 | 4579394 | 4579394 | Missense_Mutation | T | C | p.H306R |
| SNU1040_LARGE_INTESTINE | 4579331 | 4579457 | 4579416 | 4579416 | Missense_Mutation | A | G | p.S299P |
| FTC238_THYROID | 4579331 | 4579457 | 4579454 | 4579454 | Missense_Mutation | G | T | p.P286H |
Top |
Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for PELP1 |
| 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 |
Top |
Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for PELP1 |
Top |
Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for PELP1 |
Top |
RelatedDrugs for PELP1 |
| 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 |
Top |
RelatedDiseases for PELP1 |
| 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)
|