|
||||||
|
 | |
| |
| |
| |
| 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 PARD3 |
 Gene summary |
| Gene information | Gene symbol | PARD3 | Gene ID | 56288 |
| Gene name | par-3 family cell polarity regulator | |
| Synonyms | ASIP|Baz|PAR3|PAR3alpha|PARD-3|PARD3A|PPP1R118|SE2-5L16|SE2-5LT1|SE2-5T2 | |
| Cytomap | 10p11.22-p11.21 | |
| Type of gene | protein-coding | |
| Description | partitioning defective 3 homologCTCL tumor antigen se2-5PAR3-alphaatypical PKC isotype-specific interacting proteinbazookapar-3 family cell polarity regulator alphapar-3 partitioning defective 3 homologprotein phosphatase 1, regulatory subunit 118 | |
| Modification date | 20180523 | |
| UniProtAcc | Q8TEW0 | |
| Context | PubMed: PARD3 [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 |
Top |
Exon skipping events across known transcript of Ensembl for PARD3 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 PARD3 |
| Expression levels of gene isoforms across TCGA. |
 |
| Expression levels of gene isoforms across GTEx. |
 |
Top |
Exon skipping events with PSIs in TCGA for PARD3 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_48695 | 10 | 34398488:34400490:34408540:34408668:34420390:34420511 | 34408540:34408668 | ENSG00000148498.11 | ENST00000374789.3,ENST00000374794.3,ENST00000545693.1,ENST00000545260.1,ENST00000346874.4,ENST00000350537.4,ENST00000374788.3,ENST00000374790.3 |
| exon_skip_48697 | 10 | 34408540:34408668:34420390:34420511:34558584:34558827 | 34420390:34420511 | ENSG00000148498.11 | ENST00000374789.3,ENST00000374794.3,ENST00000545693.1,ENST00000545260.1,ENST00000346874.4,ENST00000350537.4,ENST00000374788.3,ENST00000374790.3 |
| exon_skip_48698 | 10 | 34420390:34420511:34558584:34558827:34573062:34573173 | 34558584:34558827 | ENSG00000148498.11 | ENST00000374789.3,ENST00000545693.1,ENST00000545260.1,ENST00000350537.4,ENST00000374788.3,ENST00000374790.3 |
| exon_skip_48699 | 10 | 34420390:34420511:34558584:34558827:34606034:34606260 | 34558584:34558827 | ENSG00000148498.11 | ENST00000374794.3,ENST00000346874.4 |
| exon_skip_48705 | 10 | 34558714:34558827:34573062:34573173:34606034:34606260 | 34573062:34573173 | ENSG00000148498.11 | ENST00000374789.3,ENST00000466092.1,ENST00000545693.1,ENST00000545260.1,ENST00000350537.4,ENST00000374788.3,ENST00000374790.3 |
| exon_skip_48713 | 10 | 34620044:34620272:34625126:34625171:34626202:34626354 | 34625126:34625171 | ENSG00000148498.11 | ENST00000374789.3,ENST00000340077.5,ENST00000545693.1,ENST00000346874.4,ENST00000374788.3,ENST00000374790.3 |
| exon_skip_48714 | 10 | 34620044:34620272:34625126:34625171:34626205:34626354 | 34625126:34625171 | ENSG00000148498.11 | ENST00000544292.1 |
| exon_skip_48715 | 10 | 34620044:34620272:34625126:34625171:34626292:34626354 | 34625126:34625171 | ENSG00000148498.11 | ENST00000374776.1,ENST00000374773.1,ENST00000545260.1,ENST00000350537.4 |
| exon_skip_48716 | 10 | 34648998:34649187:34661425:34661464:34663801:34663930 | 34661425:34661464 | ENSG00000148498.11 | ENST00000374789.3,ENST00000340077.5,ENST00000374773.1,ENST00000346874.4,ENST00000374788.3 |
| exon_skip_48718 | 10 | 34648998:34649187:34663801:34663930:34666894:34667028 | 34663801:34663930 | ENSG00000148498.11 | ENST00000374776.1,ENST00000374794.3,ENST00000545693.1,ENST00000545260.1,ENST00000544292.1,ENST00000350537.4,ENST00000374790.3 |
| exon_skip_48719 | 10 | 34661425:34661464:34663801:34663930:34666894:34667034 | 34663801:34663930 | ENSG00000148498.11 | ENST00000374789.3,ENST00000340077.5,ENST00000374773.1,ENST00000346874.4,ENST00000374788.3 |
| exon_skip_48720 | 10 | 34671467:34671850:34673056:34673182:34688257:34688341 | 34673056:34673182 | ENSG00000148498.11 | ENST00000374789.3,ENST00000374776.1,ENST00000374794.3,ENST00000340077.5,ENST00000545693.1,ENST00000374773.1,ENST00000545260.1,ENST00000346874.4,ENST00000544292.1,ENST00000350537.4,ENST00000374788.3,ENST00000374790.3 |
| exon_skip_48721 | 10 | 34673056:34673182:34688257:34688341:34690753:34690845 | 34688257:34688341 | ENSG00000148498.11 | ENST00000374789.3,ENST00000374776.1,ENST00000374794.3,ENST00000340077.5,ENST00000545693.1,ENST00000374773.1,ENST00000545260.1,ENST00000346874.4,ENST00000544292.1,ENST00000350537.4,ENST00000374788.3,ENST00000374790.3 |
| exon_skip_48728 | 10 | 34690753:34690845:34739244:34739376:34759012:34759191 | 34739244:34739376 | ENSG00000148498.11 | ENST00000374789.3,ENST00000374776.1,ENST00000340077.5,ENST00000545693.1,ENST00000374773.1,ENST00000346874.4,ENST00000350537.4,ENST00000374788.3 |
| exon_skip_48731 | 10 | 34690753:34690845:34759012:34759191:34805906:34806087 | 34759012:34759191 | ENSG00000148498.11 | ENST00000374794.3,ENST00000545260.1,ENST00000374790.3 |
| exon_skip_48735 | 10 | 34739244:34739376:34759012:34759191:34805906:34806087 | 34759012:34759191 | ENSG00000148498.11 | ENST00000374789.3,ENST00000374776.1,ENST00000340077.5,ENST00000545693.1,ENST00000374773.1,ENST00000346874.4,ENST00000350537.4,ENST00000374788.3 |
| exon_skip_48739 | 10 | 34759012:34759191:34805906:34806087:34985245:34985347 | 34805906:34806087 | ENSG00000148498.11 | ENST00000374789.3,ENST00000374776.1,ENST00000374794.3,ENST00000340077.5,ENST00000545693.1,ENST00000374773.1,ENST00000545260.1,ENST00000346874.4,ENST00000350537.4,ENST00000374788.3,ENST00000374790.3 |
| exon_skip_48742 | 10 | 34805906:34806087:34985245:34985347:35103803:35104249 | 34985245:34985347 | ENSG00000148498.11 | ENST00000374789.3,ENST00000374776.1,ENST00000374794.3,ENST00000340077.5,ENST00000374773.1,ENST00000545260.1,ENST00000346874.4,ENST00000350537.4,ENST00000374788.3,ENST00000374790.3 |
| PSI values of skipped exons in TCGA. |
 |
Top |
Exon skipping events with PSIs in GTEx for PARD3 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_48695 | 10 | 34398488:34400490:34408540:34408668:34420390:34420511 | 34408540:34408668 | ENSG00000148498.11 | ENST00000545693.1,ENST00000545260.1,ENST00000374789.3,ENST00000374788.3,ENST00000346874.4,ENST00000374794.3,ENST00000350537.4,ENST00000374790.3 |
| exon_skip_48697 | 10 | 34408540:34408668:34420390:34420511:34558584:34558827 | 34420390:34420511 | ENSG00000148498.11 | ENST00000545693.1,ENST00000545260.1,ENST00000374789.3,ENST00000374788.3,ENST00000346874.4,ENST00000374794.3,ENST00000350537.4,ENST00000374790.3 |
| exon_skip_48698 | 10 | 34420390:34420511:34558584:34558827:34573062:34573173 | 34558584:34558827 | ENSG00000148498.11 | ENST00000545693.1,ENST00000545260.1,ENST00000374789.3,ENST00000374788.3,ENST00000350537.4,ENST00000374790.3 |
| exon_skip_48699 | 10 | 34420390:34420511:34558584:34558827:34606034:34606260 | 34558584:34558827 | ENSG00000148498.11 | ENST00000346874.4,ENST00000374794.3 |
| exon_skip_48705 | 10 | 34558714:34558827:34573062:34573173:34606034:34606260 | 34573062:34573173 | ENSG00000148498.11 | ENST00000545693.1,ENST00000545260.1,ENST00000374789.3,ENST00000374788.3,ENST00000350537.4,ENST00000374790.3,ENST00000466092.1 |
| exon_skip_48713 | 10 | 34620044:34620272:34625126:34625171:34626202:34626354 | 34625126:34625171 | ENSG00000148498.11 | ENST00000545693.1,ENST00000374789.3,ENST00000374788.3,ENST00000346874.4,ENST00000374790.3,ENST00000340077.5 |
| exon_skip_48714 | 10 | 34620044:34620272:34625126:34625171:34626205:34626354 | 34625126:34625171 | ENSG00000148498.11 | ENST00000544292.1 |
| exon_skip_48715 | 10 | 34620044:34620272:34625126:34625171:34626292:34626354 | 34625126:34625171 | ENSG00000148498.11 | ENST00000545260.1,ENST00000350537.4,ENST00000374776.1,ENST00000374773.1 |
| exon_skip_48716 | 10 | 34648998:34649187:34661425:34661464:34663801:34663930 | 34661425:34661464 | ENSG00000148498.11 | ENST00000374789.3,ENST00000374788.3,ENST00000346874.4,ENST00000340077.5,ENST00000374773.1 |
| exon_skip_48718 | 10 | 34648998:34649187:34663801:34663930:34666894:34667028 | 34663801:34663930 | ENSG00000148498.11 | ENST00000545693.1,ENST00000545260.1,ENST00000374794.3,ENST00000350537.4,ENST00000374790.3,ENST00000374776.1,ENST00000544292.1 |
| exon_skip_48719 | 10 | 34661425:34661464:34663801:34663930:34666894:34667034 | 34663801:34663930 | ENSG00000148498.11 | ENST00000374789.3,ENST00000374788.3,ENST00000346874.4,ENST00000340077.5,ENST00000374773.1 |
| exon_skip_48720 | 10 | 34671467:34671850:34673056:34673182:34688257:34688341 | 34673056:34673182 | ENSG00000148498.11 | ENST00000545693.1,ENST00000545260.1,ENST00000374789.3,ENST00000374788.3,ENST00000346874.4,ENST00000374794.3,ENST00000350537.4,ENST00000374790.3,ENST00000374776.1,ENST00000340077.5,ENST00000374773.1,ENST00000544292.1 |
| exon_skip_48721 | 10 | 34673056:34673182:34688257:34688341:34690753:34690845 | 34688257:34688341 | ENSG00000148498.11 | ENST00000545693.1,ENST00000545260.1,ENST00000374789.3,ENST00000374788.3,ENST00000346874.4,ENST00000374794.3,ENST00000350537.4,ENST00000374790.3,ENST00000374776.1,ENST00000340077.5,ENST00000374773.1,ENST00000544292.1 |
| exon_skip_48728 | 10 | 34690753:34690845:34739244:34739376:34759012:34759191 | 34739244:34739376 | ENSG00000148498.11 | ENST00000545693.1,ENST00000374789.3,ENST00000374788.3,ENST00000346874.4,ENST00000350537.4,ENST00000374776.1,ENST00000340077.5,ENST00000374773.1 |
| exon_skip_48731 | 10 | 34690753:34690845:34759012:34759191:34805906:34806087 | 34759012:34759191 | ENSG00000148498.11 | ENST00000545260.1,ENST00000374794.3,ENST00000374790.3 |
| exon_skip_48735 | 10 | 34739244:34739376:34759012:34759191:34805906:34806087 | 34759012:34759191 | ENSG00000148498.11 | ENST00000545693.1,ENST00000374789.3,ENST00000374788.3,ENST00000346874.4,ENST00000350537.4,ENST00000374776.1,ENST00000340077.5,ENST00000374773.1 |
| exon_skip_48739 | 10 | 34759012:34759191:34805906:34806087:34985245:34985347 | 34805906:34806087 | ENSG00000148498.11 | ENST00000545693.1,ENST00000545260.1,ENST00000374789.3,ENST00000374788.3,ENST00000346874.4,ENST00000374794.3,ENST00000350537.4,ENST00000374790.3,ENST00000374776.1,ENST00000340077.5,ENST00000374773.1 |
| exon_skip_48742 | 10 | 34805906:34806087:34985245:34985347:35103803:35104249 | 34985245:34985347 | ENSG00000148498.11 | ENST00000545260.1,ENST00000374789.3,ENST00000374788.3,ENST00000346874.4,ENST00000374794.3,ENST00000350537.4,ENST00000374790.3,ENST00000374776.1,ENST00000340077.5,ENST00000374773.1 |
| PSI values of skipped exons in GTEx. |
 |
| * Skipped exon sequences. |
Top |
Open reading frame (ORF) annotation in the exon skipping event for PARD3 |
| 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 |
| ENST00000374789 | 34408540 | 34408668 | Frame-shift |
| ENST00000374789 | 34420390 | 34420511 | Frame-shift |
| ENST00000374789 | 34759012 | 34759191 | Frame-shift |
| ENST00000374789 | 34805906 | 34806087 | Frame-shift |
| ENST00000374789 | 34558584 | 34558827 | In-frame |
| ENST00000374789 | 34573062 | 34573173 | In-frame |
| ENST00000374789 | 34625126 | 34625171 | In-frame |
| ENST00000374789 | 34661425 | 34661464 | In-frame |
| ENST00000374789 | 34663801 | 34663930 | In-frame |
| ENST00000374789 | 34673056 | 34673182 | In-frame |
| ENST00000374789 | 34688257 | 34688341 | In-frame |
| ENST00000374789 | 34739244 | 34739376 | In-frame |
| ENST00000374789 | 34985245 | 34985347 | 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 |
| ENST00000374789 | 34408540 | 34408668 | Frame-shift |
| ENST00000374789 | 34420390 | 34420511 | Frame-shift |
| ENST00000374789 | 34759012 | 34759191 | Frame-shift |
| ENST00000374789 | 34805906 | 34806087 | Frame-shift |
| ENST00000374789 | 34558584 | 34558827 | In-frame |
| ENST00000374789 | 34573062 | 34573173 | In-frame |
| ENST00000374789 | 34625126 | 34625171 | In-frame |
| ENST00000374789 | 34661425 | 34661464 | In-frame |
| ENST00000374789 | 34663801 | 34663930 | In-frame |
| ENST00000374789 | 34673056 | 34673182 | In-frame |
| ENST00000374789 | 34688257 | 34688341 | In-frame |
| ENST00000374789 | 34739244 | 34739376 | In-frame |
| ENST00000374789 | 34985245 | 34985347 | In-frame |
Top |
Infer the effects of exon skipping event on protein functional features for PARD3 |
| 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 |
| ENST00000374789 | 6022 | 1356 | 34985245 | 34985347 | 447 | 548 | 40 | 74 |
| ENST00000374789 | 6022 | 1356 | 34739244 | 34739376 | 909 | 1040 | 194 | 238 |
| ENST00000374789 | 6022 | 1356 | 34688257 | 34688341 | 1133 | 1216 | 269 | 296 |
| ENST00000374789 | 6022 | 1356 | 34673056 | 34673182 | 1217 | 1342 | 297 | 338 |
| ENST00000374789 | 6022 | 1356 | 34663801 | 34663930 | 1866 | 1994 | 513 | 556 |
| ENST00000374789 | 6022 | 1356 | 34661425 | 34661464 | 1995 | 2033 | 556 | 569 |
| ENST00000374789 | 6022 | 1356 | 34625126 | 34625171 | 2896 | 2940 | 856 | 871 |
| ENST00000374789 | 6022 | 1356 | 34573062 | 34573173 | 3401 | 3511 | 1025 | 1061 |
| ENST00000374789 | 6022 | 1356 | 34558584 | 34558827 | 3512 | 3754 | 1062 | 1142 |
| 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 |
| ENST00000374789 | 6022 | 1356 | 34985245 | 34985347 | 447 | 548 | 40 | 74 |
| ENST00000374789 | 6022 | 1356 | 34739244 | 34739376 | 909 | 1040 | 194 | 238 |
| ENST00000374789 | 6022 | 1356 | 34688257 | 34688341 | 1133 | 1216 | 269 | 296 |
| ENST00000374789 | 6022 | 1356 | 34673056 | 34673182 | 1217 | 1342 | 297 | 338 |
| ENST00000374789 | 6022 | 1356 | 34663801 | 34663930 | 1866 | 1994 | 513 | 556 |
| ENST00000374789 | 6022 | 1356 | 34661425 | 34661464 | 1995 | 2033 | 556 | 569 |
| ENST00000374789 | 6022 | 1356 | 34625126 | 34625171 | 2896 | 2940 | 856 | 871 |
| ENST00000374789 | 6022 | 1356 | 34573062 | 34573173 | 3401 | 3511 | 1025 | 1061 |
| ENST00000374789 | 6022 | 1356 | 34558584 | 34558827 | 3512 | 3754 | 1062 | 1142 |
| 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 |
Top |
SNVs in the skipped exons for PARD3 |
| - 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 |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_48699 exon_skip_48698 | 34558585 | 34558827 | 34558628 | 34558628 | Frame_Shift_Del | G | - | p.Q1129fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_48705 | 34573063 | 34573173 | 34573121 | 34573121 | Frame_Shift_Del | T | - | p.I1043fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_48718 exon_skip_48719 | 34663802 | 34663930 | 34663882 | 34663882 | Frame_Shift_Del | G | - | p.L531fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_48720 | 34673057 | 34673182 | 34673119 | 34673119 | Frame_Shift_Del | A | - | p.F318fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_48720 | 34673057 | 34673182 | 34673119 | 34673119 | Frame_Shift_Del | A | - | p.F318fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_48721 | 34688258 | 34688341 | 34688314 | 34688314 | Frame_Shift_Del | G | - | p.P278fs |
| STAD | TCGA-D7-A4YV-01 | exon_skip_48731 exon_skip_48735 | 34759013 | 34759191 | 34759114 | 34759114 | Frame_Shift_Del | A | - | p.S161fs |
| ESCA | TCGA-L5-A88T-01 | exon_skip_48742 | 34985246 | 34985347 | 34985330 | 34985331 | Frame_Shift_Ins | - | A | p.Q47fs |
| ESCA | TCGA-L5-A88T-01 | exon_skip_48742 | 34985246 | 34985347 | 34985330 | 34985331 | Frame_Shift_Ins | - | A | p.T46fs |
| SKCM | TCGA-DA-A95Z-06 | exon_skip_48697 | 34420391 | 34420511 | 34420456 | 34420456 | Nonsense_Mutation | G | A | p.Q1162* |
| BLCA | TCGA-DK-A2I4-01 | exon_skip_48697 | 34420391 | 34420511 | 34420503 | 34420503 | Nonsense_Mutation | G | C | p.S1146* |
| BLCA | TCGA-DK-A6B6-01 | exon_skip_48699 exon_skip_48698 | 34558585 | 34558827 | 34558670 | 34558670 | Nonsense_Mutation | G | A | p.Q1115* |
| SKCM | TCGA-QB-A6FS-06 | exon_skip_48699 exon_skip_48698 | 34558585 | 34558827 | 34558811 | 34558811 | Nonsense_Mutation | G | A | p.R1031X |
| SKCM | TCGA-QB-A6FS-06 | exon_skip_48699 exon_skip_48698 | 34558585 | 34558827 | 34558811 | 34558811 | Nonsense_Mutation | G | A | p.R1068* |
| SKCM | TCGA-W3-A824-06 | exon_skip_48699 exon_skip_48698 | 34558585 | 34558827 | 34558811 | 34558811 | Nonsense_Mutation | G | A | p.R1068* |
| SKCM | TCGA-EE-A2MC-06 | exon_skip_48705 | 34573063 | 34573173 | 34573160 | 34573160 | Nonsense_Mutation | G | A | p.R1030* |
| UCEC | TCGA-BS-A0UV-01 | exon_skip_48705 | 34573063 | 34573173 | 34573160 | 34573160 | Nonsense_Mutation | G | A | p.R1030* |
| ESCA | TCGA-JY-A6FE-01 | exon_skip_48714 exon_skip_48715 exon_skip_48713 | 34625127 | 34625171 | 34625163 | 34625163 | Nonsense_Mutation | C | A | p.E860* |
| ESCA | TCGA-JY-A6FE-01 | exon_skip_48714 exon_skip_48715 exon_skip_48713 | 34625127 | 34625171 | 34625163 | 34625163 | Nonsense_Mutation | C | A | p.E860X |
| BLCA | TCGA-DK-A6AW-01 | exon_skip_48721 | 34688258 | 34688341 | 34688322 | 34688322 | Nonsense_Mutation | C | A | p.E276* |
| LUAD | TCGA-69-7979-01 | exon_skip_48721 | 34688258 | 34688341 | 34688331 | 34688331 | Nonsense_Mutation | T | A | p.K273* |
| LUSC | TCGA-22-1011-01 | exon_skip_48731 exon_skip_48735 | 34759013 | 34759191 | 34759074 | 34759074 | Nonsense_Mutation | G | C | p.S174* |
| BLCA | TCGA-XF-A9T5-01 | exon_skip_48731 exon_skip_48735 | 34759013 | 34759191 | 34759174 | 34759174 | Nonsense_Mutation | G | A | p.R141* |
| BLCA | TCGA-GV-A3JZ-01 | exon_skip_48739 | 34805907 | 34806087 | 34805961 | 34805961 | Nonsense_Mutation | G | A | p.Q117* |
| BLCA | TCGA-SY-A9G5-01 | exon_skip_48739 | 34805907 | 34806087 | 34805961 | 34805961 | Nonsense_Mutation | G | A | p.Q117* |
| CESC | TCGA-IR-A3LH-01 | exon_skip_48739 | 34805907 | 34806087 | 34805961 | 34805961 | Nonsense_Mutation | G | A | p.Q117* |
| UCEC | TCGA-BS-A0UV-01 | exon_skip_48728 | 34739245 | 34739376 | 34739377 | 34739377 | Splice_Site | C | A | e5-1 |
| STAD | TCGA-B7-5816-01 | exon_skip_48731 exon_skip_48735 | 34759013 | 34759191 | 34759011 | 34759011 | Splice_Site | A | G | . |
| STAD | TCGA-B7-5816-01 | exon_skip_48731 exon_skip_48735 | 34759013 | 34759191 | 34759011 | 34759011 | Splice_Site | A | G | p.K194_splice |
| SKCM | TCGA-D3-A1Q3-06 | exon_skip_48731 exon_skip_48735 | 34759013 | 34759191 | 34759192 | 34759192 | Splice_Site | C | T | . |
| UCEC | TCGA-B5-A0JY-01 | exon_skip_48731 exon_skip_48735 | 34759013 | 34759191 | 34759192 | 34759192 | Splice_Site | C | A | e4-1 |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-W3-A824-06 |
| Cancer type: SKCM | |
| ESID: exon_skip_48698 | |
| Skipped exon start: 34558585 | |
| Skipped exon end: 34558827 | |
| Mutation start: 34558811 | |
| Mutation end: 34558811 | |
| Mutation type: Nonsense_Mutation | |
| Reference seq: G | |
| Mutation seq: A | |
| AAchange: p.R1068* | |
exon_skip_48699_SKCM_TCGA-W3-A824-06.png | |
| - 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 |
| LNCAPCLONEFGC_PROSTATE | 34673057 | 34673182 | 34673119 | 34673119 | Frame_Shift_Del | A | - | p.F318fs |
| NCIH1869_LUNG | 34408541 | 34408668 | 34408573 | 34408573 | Missense_Mutation | C | A | p.Q1215H |
| HEC151_ENDOMETRIUM | 34408541 | 34408668 | 34408587 | 34408587 | Missense_Mutation | G | A | p.R1211C |
| NCIH1618_LUNG | 34408541 | 34408668 | 34408619 | 34408619 | Missense_Mutation | T | A | p.E1200V |
| HEC151_ENDOMETRIUM | 34408541 | 34408668 | 34408645 | 34408645 | Missense_Mutation | C | A | p.Q1191H |
| HCT15_LARGE_INTESTINE | 34420391 | 34420511 | 34420407 | 34420407 | Missense_Mutation | C | A | p.S1178I |
| TCCSUP_URINARY_TRACT | 34420391 | 34420511 | 34420426 | 34420426 | Missense_Mutation | C | A | p.D1172Y |
| TCCSUP_URINARY_TRACT | 34420391 | 34420511 | 34420438 | 34420438 | Missense_Mutation | C | T | p.E1168K |
| LNCAPCLONEFGC_PROSTATE | 34420391 | 34420511 | 34420483 | 34420483 | Missense_Mutation | G | A | p.R1153W |
| SUPHD1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 34558585 | 34558827 | 34558655 | 34558655 | Missense_Mutation | C | T | p.G1120R |
| EVSAT_BREAST | 34558585 | 34558827 | 34558748 | 34558748 | Missense_Mutation | T | C | p.T1089A |
| M14_SKIN | 34558585 | 34558827 | 34558762 | 34558763 | Missense_Mutation | TG | CT | p.Q1084R |
| MDAMB435S_SKIN | 34558585 | 34558827 | 34558762 | 34558762 | Missense_Mutation | T | C | p.Q1084R |
| MDAMB435S_SKIN | 34558585 | 34558827 | 34558763 | 34558763 | Missense_Mutation | G | T | p.Q1084K |
| ISTSL1_LUNG | 34558585 | 34558827 | 34558810 | 34558810 | Missense_Mutation | C | A | p.R1068L |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 34625127 | 34625171 | 34625132 | 34625132 | Missense_Mutation | T | C | p.K870R |
| DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 34625127 | 34625171 | 34625132 | 34625132 | Missense_Mutation | T | C | p.K870R |
| OCIAML5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 34625127 | 34625171 | 34625132 | 34625132 | Missense_Mutation | T | C | p.K870R |
| OACP4C_OESOPHAGUS | 34661426 | 34661464 | 34661436 | 34661436 | Missense_Mutation | G | A | p.P566L |
| NCIH650_LUNG | 34663802 | 34663930 | 34663804 | 34663804 | Missense_Mutation | G | C | p.L556V |
| LS180_LARGE_INTESTINE | 34663802 | 34663930 | 34663827 | 34663827 | Missense_Mutation | T | G | p.E548A |
| SNU1040_LARGE_INTESTINE | 34663802 | 34663930 | 34663833 | 34663833 | Missense_Mutation | C | T | p.R546H |
| HCT15_LARGE_INTESTINE | 34663802 | 34663930 | 34663884 | 34663884 | Missense_Mutation | G | A | p.S529L |
| BICR10_UPPER_AERODIGESTIVE_TRACT | 34663802 | 34663930 | 34663912 | 34663912 | Missense_Mutation | C | A | p.V520L |
| OVTOKO_OVARY | 34673057 | 34673182 | 34673061 | 34673061 | Missense_Mutation | C | G | p.E338Q |
| SARC9371_BONE | 34673057 | 34673182 | 34673065 | 34673065 | Missense_Mutation | T | A | p.R336S |
| KP3_PANCREAS | 34688258 | 34688341 | 34688267 | 34688267 | Missense_Mutation | C | T | p.R294Q |
| NCIH211_LUNG | 34688258 | 34688341 | 34688309 | 34688309 | Missense_Mutation | T | A | p.D280V |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 34688258 | 34688341 | 34688322 | 34688322 | Missense_Mutation | C | G | p.E276Q |
| DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 34688258 | 34688341 | 34688322 | 34688322 | Missense_Mutation | C | G | p.E276Q |
| NCIH650_LUNG | 34739245 | 34739376 | 34739315 | 34739315 | Missense_Mutation | C | T | p.R215K |
| LS411N_LARGE_INTESTINE | 34739245 | 34739376 | 34739348 | 34739348 | Missense_Mutation | C | A | p.R204L |
| 2313287_STOMACH | 34759013 | 34759191 | 34759062 | 34759062 | Missense_Mutation | C | T | p.G178D |
| SNGM_ENDOMETRIUM | 34759013 | 34759191 | 34759080 | 34759080 | Missense_Mutation | C | T | p.R172H |
| WM278_SKIN | 34759013 | 34759191 | 34759186 | 34759186 | Missense_Mutation | G | A | p.P137S |
| SNU1040_LARGE_INTESTINE | 34805907 | 34806087 | 34806011 | 34806011 | Missense_Mutation | C | A | p.S100I |
| SNUC4_LARGE_INTESTINE | 34805907 | 34806087 | 34806051 | 34806051 | Missense_Mutation | C | T | p.G87R |
| NCIH835_LUNG | 34805907 | 34806087 | 34806072 | 34806072 | Missense_Mutation | C | G | p.D80H |
| LNCAPCLONEFGC_PROSTATE | 34558585 | 34558827 | 34558811 | 34558811 | Nonsense_Mutation | G | A | p.R1068* |
| SW684_SOFT_TISSUE | 34558585 | 34558827 | 34558811 | 34558811 | Nonsense_Mutation | G | A | p.R1068* |
| SNU81_LARGE_INTESTINE | 34661426 | 34661464 | 34661431 | 34661431 | Nonsense_Mutation | C | A | p.E568* |
| SNU175_LARGE_INTESTINE | 34408541 | 34408668 | 34408541 | 34408541 | Splice_Site | C | T | p.R1226Q |
Top |
Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for PARD3 |
| 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 PARD3 |
Top |
Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for PARD3 |
Top |
RelatedDrugs for PARD3 |
| 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 PARD3 |
| 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)
|