|
||||||
|
 | |
| |
| |
| |
| 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 PQLC1 |
 Gene summary |
| Gene information | Gene symbol | PQLC1 | Gene ID | 80148 |
| Gene name | PQ loop repeat containing 1 | |
| Synonyms | - | |
| Cytomap | 18q23 | |
| Type of gene | protein-coding | |
| Description | PQ-loop repeat-containing protein 1 | |
| Modification date | 20180519 | |
| UniProtAcc | Q8N2U9 | |
| Context | PubMed: PQLC1 [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 PQLC1 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 PQLC1 |
| Expression levels of gene isoforms across TCGA. |
 |
| Expression levels of gene isoforms across GTEx. |
 |
Top |
Exon skipping events with PSIs in TCGA for PQLC1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_300018 | 18 | 77664140:77664183:77679183:77679400:77690227:77690311 | 77679183:77679400 | ENSG00000122490.14 | ENST00000466449.1,ENST00000589000.1 |
| exon_skip_300019 | 18 | 77664140:77664183:77679183:77679400:77693968:77694016 | 77679183:77679400 | ENSG00000122490.14 | ENST00000351365.3,ENST00000397778.2,ENST00000409073.1 |
| exon_skip_300022 | 18 | 77664140:77664183:77679183:77679400:77703328:77703462 | 77679183:77679400 | ENSG00000122490.14 | ENST00000357575.4 |
| exon_skip_300040 | 18 | 77664140:77664183:77703328:77703462:77710723:77710817 | 77703328:77703462 | ENSG00000122490.14 | ENST00000590381.1 |
| exon_skip_300051 | 18 | 77679343:77679400:77690227:77690311:77693968:77694016 | 77690227:77690311 | ENSG00000122490.14 | ENST00000466449.1,ENST00000589000.1 |
| exon_skip_300052 | 18 | 77679343:77679400:77690227:77690311:77703328:77703462 | 77690227:77690311 | ENSG00000122490.14 | ENST00000591964.1 |
| exon_skip_300058 | 18 | 77679343:77679400:77693968:77694022:77703328:77703462 | 77693968:77694022 | ENSG00000122490.14 | ENST00000351365.3,ENST00000494607.1,ENST00000397778.2,ENST00000409073.1 |
| exon_skip_300065 | 18 | 77679343:77679400:77703328:77703462:77710723:77710817 | 77703328:77703462 | ENSG00000122490.14 | ENST00000357575.4 |
| exon_skip_300068 | 18 | 77684956:77685053:77690227:77690311:77693968:77694022 | 77690227:77690311 | ENSG00000122490.14 | ENST00000593030.2 |
| exon_skip_300073 | 18 | 77690227:77690311:77693968:77694022:77703328:77703462 | 77693968:77694022 | ENSG00000122490.14 | ENST00000466449.1,ENST00000593030.2 |
| exon_skip_300089 | 18 | 77703374:77703462:77707266:77707341:77710723:77710817 | 77707266:77707341 | ENSG00000122490.14 | ENST00000478144.1 |
| exon_skip_300090 | 18 | 77703374:77703462:77709518:77709636:77710723:77710817 | 77709518:77709636 | ENSG00000122490.14 | ENST00000591964.1 |
| exon_skip_300091 | 18 | 77703374:77703462:77709518:77709655:77710723:77710817 | 77709518:77709655 | ENSG00000122490.14 | ENST00000589452.1,ENST00000474967.1 |
| exon_skip_300093 | 18 | 77703374:77703462:77709686:77709838:77710723:77710817 | 77709686:77709838 | ENSG00000122490.14 | ENST00000351365.3,ENST00000409073.1 |
| exon_skip_300094 | 18 | 77703328:77703462:77710723:77711025:77711580:77711603 | 77710723:77711025 | ENSG00000122490.14 | ENST00000397778.2,ENST00000590381.1,ENST00000593030.2 |
| PSI values of skipped exons in TCGA. |
 |
Top |
Exon skipping events with PSIs in GTEx for PQLC1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_300018 | 18 | 77664140:77664183:77679183:77679400:77690227:77690311 | 77679183:77679400 | ENSG00000122490.14 | ENST00000466449.1,ENST00000589000.1 |
| exon_skip_300019 | 18 | 77664140:77664183:77679183:77679400:77693968:77694016 | 77679183:77679400 | ENSG00000122490.14 | ENST00000397778.2,ENST00000351365.3,ENST00000409073.1 |
| exon_skip_300020 | 18 | 77664140:77664183:77679183:77679400:77701506:77701750 | 77679183:77679400 | ENSG00000122490.14 | ENST00000469369.1 |
| exon_skip_300022 | 18 | 77664140:77664183:77679183:77679400:77703328:77703462 | 77679183:77679400 | ENSG00000122490.14 | ENST00000357575.4 |
| exon_skip_300040 | 18 | 77664140:77664183:77703328:77703462:77710723:77710817 | 77703328:77703462 | ENSG00000122490.14 | ENST00000590381.1 |
| exon_skip_300051 | 18 | 77679343:77679400:77690227:77690311:77693968:77694016 | 77690227:77690311 | ENSG00000122490.14 | ENST00000466449.1,ENST00000589000.1 |
| exon_skip_300052 | 18 | 77679343:77679400:77690227:77690311:77703328:77703462 | 77690227:77690311 | ENSG00000122490.14 | ENST00000591964.1 |
| exon_skip_300058 | 18 | 77679343:77679400:77693968:77694022:77703328:77703462 | 77693968:77694022 | ENSG00000122490.14 | ENST00000397778.2,ENST00000351365.3,ENST00000409073.1,ENST00000494607.1 |
| exon_skip_300065 | 18 | 77679343:77679400:77703328:77703462:77710723:77710817 | 77703328:77703462 | ENSG00000122490.14 | ENST00000357575.4 |
| exon_skip_300068 | 18 | 77684956:77685053:77690227:77690311:77693968:77694022 | 77690227:77690311 | ENSG00000122490.14 | ENST00000593030.2 |
| exon_skip_300073 | 18 | 77690227:77690311:77693968:77694022:77703328:77703462 | 77693968:77694022 | ENSG00000122490.14 | ENST00000466449.1,ENST00000593030.2 |
| exon_skip_300089 | 18 | 77703374:77703462:77707266:77707341:77710723:77710817 | 77707266:77707341 | ENSG00000122490.14 | ENST00000478144.1 |
| exon_skip_300090 | 18 | 77703374:77703462:77709518:77709636:77710723:77710817 | 77709518:77709636 | ENSG00000122490.14 | ENST00000591964.1 |
| exon_skip_300091 | 18 | 77703374:77703462:77709518:77709655:77710723:77710817 | 77709518:77709655 | ENSG00000122490.14 | ENST00000474967.1,ENST00000589452.1 |
| exon_skip_300093 | 18 | 77703374:77703462:77709686:77709838:77710723:77710817 | 77709686:77709838 | ENSG00000122490.14 | ENST00000351365.3,ENST00000409073.1 |
| exon_skip_300094 | 18 | 77703328:77703462:77710723:77711025:77711580:77711603 | 77710723:77711025 | ENSG00000122490.14 | ENST00000397778.2,ENST00000590381.1,ENST00000593030.2 |
| PSI values of skipped exons in GTEx. |
 |
| * Skipped exon sequences. |
Top |
Open reading frame (ORF) annotation in the exon skipping event for PQLC1 |
| 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 |
| ENST00000397778 | 77710723 | 77711025 | 3UTR-3CDS |
| ENST00000397778 | 77679183 | 77679400 | Frame-shift |
| ENST00000397778 | 77693968 | 77694022 | 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 |
| ENST00000397778 | 77710723 | 77711025 | 3UTR-3CDS |
| ENST00000397778 | 77679183 | 77679400 | Frame-shift |
| ENST00000397778 | 77693968 | 77694022 | In-frame |
Top |
Infer the effects of exon skipping event on protein functional features for PQLC1 |
| 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 |
| ENST00000397778 | 2572 | 271 | 77693968 | 77694022 | 521 | 574 | 112 | 130 |
| 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 |
| ENST00000397778 | 2572 | 271 | 77693968 | 77694022 | 521 | 574 | 112 | 130 |
| 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 |
| Q8N2U9 | 112 | 130 | 113 | 130 | Alternative sequence | ID=VSP_024145;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q8N2U9 | 112 | 130 | 114 | 132 | Alternative sequence | ID=VSP_043275;Note=In isoform 3. ADSKDEEVKVAPRRSFLDF->SRWCSCGPVVTPSRRPTSC;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q8N2U9 | 112 | 130 | 1 | 271 | Chain | ID=PRO_0000282430;Note=PQ-loop repeat-containing 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 |
| Q8N2U9 | 112 | 130 | 113 | 130 | Alternative sequence | ID=VSP_024145;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q8N2U9 | 112 | 130 | 114 | 132 | Alternative sequence | ID=VSP_043275;Note=In isoform 3. ADSKDEEVKVAPRRSFLDF->SRWCSCGPVVTPSRRPTSC;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q8N2U9 | 112 | 130 | 1 | 271 | Chain | ID=PRO_0000282430;Note=PQ-loop repeat-containing protein 1 |
Top |
SNVs in the skipped exons for PQLC1 |
| - 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-G3-A3CJ-01 | exon_skip_300073 exon_skip_300058 | 77693969 | 77694022 | 77693985 | 77693985 | Frame_Shift_Del | G | - | p.P125fs |
| ESCA | TCGA-R6-A6L6-01 | exon_skip_300019 exon_skip_300018 exon_skip_300022 | 77679184 | 77679400 | 77679354 | 77679354 | Nonsense_Mutation | G | T | p.Y146* |
| ESCA | TCGA-R6-A6L6-01 | exon_skip_300019 exon_skip_300018 exon_skip_300022 | 77679184 | 77679400 | 77679354 | 77679354 | Nonsense_Mutation | G | T | p.Y146X |
| BLCA | TCGA-XF-A9T0-01 | exon_skip_300019 exon_skip_300018 exon_skip_300022 | 77679184 | 77679400 | 77679372 | 77679372 | Nonsense_Mutation | C | T | p.W140* |
| OV | TCGA-24-2260-01 | exon_skip_300094 | 77710724 | 77711025 | 77710724 | 77710724 | Nonsense_Mutation | C | T | p.W68_splice |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-G3-A3CJ-01 |
| Cancer type: LIHC | |
| ESID: exon_skip_300058 | |
| Skipped exon start: 77693969 | |
| Skipped exon end: 77694022 | |
| Mutation start: 77693985 | |
| Mutation end: 77693985 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: G | |
| Mutation seq: - | |
| AAchange: p.P125fs | |
exon_skip_101516_LIHC_TCGA-G3-A3CJ-01.png | |
exon_skip_106378_LIHC_TCGA-G3-A3CJ-01.png | |
exon_skip_106524_LIHC_TCGA-G3-A3CJ-01.png | |
exon_skip_109529_LIHC_TCGA-G3-A3CJ-01.png | |
exon_skip_109778_LIHC_TCGA-G3-A3CJ-01.png | |
exon_skip_11286_LIHC_TCGA-G3-A3CJ-01.png | |
exon_skip_11289_LIHC_TCGA-G3-A3CJ-01.png | |
exon_skip_11349_LIHC_TCGA-G3-A3CJ-01.png | |
exon_skip_113894_LIHC_TCGA-G3-A3CJ-01.png | |
exon_skip_113898_LIHC_TCGA-G3-A3CJ-01.png | |
exon_skip_11611_LIHC_TCGA-G3-A3CJ-01.png | |
exon_skip_11615_LIHC_TCGA-G3-A3CJ-01.png | |
exon_skip_11638_LIHC_TCGA-G3-A3CJ-01.png | |
exon_skip_11641_LIHC_TCGA-G3-A3CJ-01.png | |
exon_skip_11926_LIHC_TCGA-G3-A3CJ-01.png | |
exon_skip_11933_LIHC_TCGA-G3-A3CJ-01.png | |
exon_skip_11937_LIHC_TCGA-G3-A3CJ-01.png | |
exon_skip_11939_LIHC_TCGA-G3-A3CJ-01.png | |
exon_skip_124065_LIHC_TCGA-G3-A3CJ-01.png | |
exon_skip_124066_LIHC_TCGA-G3-A3CJ-01.png | |
exon_skip_124693_LIHC_TCGA-G3-A3CJ-01.png | |
exon_skip_126824_LIHC_TCGA-G3-A3CJ-01.png | |
exon_skip_126833_LIHC_TCGA-G3-A3CJ-01.png | |
exon_skip_126836_LIHC_TCGA-G3-A3CJ-01.png | |
exon_skip_1268_LIHC_TCGA-G3-A3CJ-01.png | |
exon_skip_1270_LIHC_TCGA-G3-A3CJ-01.png | |
exon_skip_127101_LIHC_TCGA-G3-A3CJ-01.png | |
exon_skip_1274_LIHC_TCGA-G3-A3CJ-01.png | |
exon_skip_128729_LIHC_TCGA-G3-A3CJ-01.png | |
exon_skip_129795_LIHC_TCGA-G3-A3CJ-01.png | |
exon_skip_129799_LIHC_TCGA-G3-A3CJ-01.png | |
exon_skip_131401_LIHC_TCGA-G3-A3CJ-01.png | |
exon_skip_131474_LIHC_TCGA-G3-A3CJ-01.png | |
exon_skip_135545_LIHC_TCGA-G3-A3CJ-01.png | |
exon_skip_135553_LIHC_TCGA-G3-A3CJ-01.png | |
exon_skip_13626_LIHC_TCGA-G3-A3CJ-01.png | |
exon_skip_138373_LIHC_TCGA-G3-A3CJ-01.png | |
exon_skip_138676_LIHC_TCGA-G3-A3CJ-01.png | |
exon_skip_141657_LIHC_TCGA-G3-A3CJ-01.png | |
exon_skip_143515_LIHC_TCGA-G3-A3CJ-01.png | |
exon_skip_143728_LIHC_TCGA-G3-A3CJ-01.png | |
exon_skip_14564_LIHC_TCGA-G3-A3CJ-01.png | |
exon_skip_149490_LIHC_TCGA-G3-A3CJ-01.png | |
exon_skip_153354_LIHC_TCGA-G3-A3CJ-01.png | |
exon_skip_1873_LIHC_TCGA-G3-A3CJ-01.png | |
exon_skip_1874_LIHC_TCGA-G3-A3CJ-01.png | |
exon_skip_24442_LIHC_TCGA-G3-A3CJ-01.png | |
exon_skip_284510_LIHC_TCGA-G3-A3CJ-01.png | |
exon_skip_289275_LIHC_TCGA-G3-A3CJ-01.png | |
exon_skip_289905_LIHC_TCGA-G3-A3CJ-01.png | |
exon_skip_291218_LIHC_TCGA-G3-A3CJ-01.png | |
exon_skip_293221_LIHC_TCGA-G3-A3CJ-01.png | |
exon_skip_293223_LIHC_TCGA-G3-A3CJ-01.png | |
exon_skip_300058_LIHC_TCGA-G3-A3CJ-01.png | |
exon_skip_300676_LIHC_TCGA-G3-A3CJ-01.png | |
exon_skip_302253_LIHC_TCGA-G3-A3CJ-01.png | |
exon_skip_302693_LIHC_TCGA-G3-A3CJ-01.png | |
exon_skip_305815_LIHC_TCGA-G3-A3CJ-01.png | |
exon_skip_30789_LIHC_TCGA-G3-A3CJ-01.png | |
exon_skip_30792_LIHC_TCGA-G3-A3CJ-01.png | |
exon_skip_309404_LIHC_TCGA-G3-A3CJ-01.png | |
exon_skip_309486_LIHC_TCGA-G3-A3CJ-01.png | |
exon_skip_309505_LIHC_TCGA-G3-A3CJ-01.png | |
exon_skip_309539_LIHC_TCGA-G3-A3CJ-01.png | |
exon_skip_311823_LIHC_TCGA-G3-A3CJ-01.png | |
exon_skip_313290_LIHC_TCGA-G3-A3CJ-01.png | |
exon_skip_315285_LIHC_TCGA-G3-A3CJ-01.png | |
exon_skip_315286_LIHC_TCGA-G3-A3CJ-01.png | |
exon_skip_316122_LIHC_TCGA-G3-A3CJ-01.png | |
exon_skip_325693_LIHC_TCGA-G3-A3CJ-01.png | |
exon_skip_327441_LIHC_TCGA-G3-A3CJ-01.png | |
exon_skip_327550_LIHC_TCGA-G3-A3CJ-01.png | |
exon_skip_329666_LIHC_TCGA-G3-A3CJ-01.png | |
exon_skip_329933_LIHC_TCGA-G3-A3CJ-01.png | |
exon_skip_331517_LIHC_TCGA-G3-A3CJ-01.png | |
exon_skip_354387_LIHC_TCGA-G3-A3CJ-01.png | |
exon_skip_354396_LIHC_TCGA-G3-A3CJ-01.png | |
exon_skip_356468_LIHC_TCGA-G3-A3CJ-01.png | |
exon_skip_365019_LIHC_TCGA-G3-A3CJ-01.png | |
exon_skip_365023_LIHC_TCGA-G3-A3CJ-01.png | |
exon_skip_371589_LIHC_TCGA-G3-A3CJ-01.png | |
exon_skip_375393_LIHC_TCGA-G3-A3CJ-01.png | |
exon_skip_380574_LIHC_TCGA-G3-A3CJ-01.png | |
exon_skip_382000_LIHC_TCGA-G3-A3CJ-01.png | |
exon_skip_382738_LIHC_TCGA-G3-A3CJ-01.png | |
exon_skip_385031_LIHC_TCGA-G3-A3CJ-01.png | |
exon_skip_387684_LIHC_TCGA-G3-A3CJ-01.png | |
exon_skip_421130_LIHC_TCGA-G3-A3CJ-01.png | |
exon_skip_421131_LIHC_TCGA-G3-A3CJ-01.png | |
exon_skip_421134_LIHC_TCGA-G3-A3CJ-01.png | |
exon_skip_426528_LIHC_TCGA-G3-A3CJ-01.png | |
exon_skip_426530_LIHC_TCGA-G3-A3CJ-01.png | |
exon_skip_427391_LIHC_TCGA-G3-A3CJ-01.png | |
exon_skip_430528_LIHC_TCGA-G3-A3CJ-01.png | |
exon_skip_433436_LIHC_TCGA-G3-A3CJ-01.png | |
exon_skip_433655_LIHC_TCGA-G3-A3CJ-01.png | |
exon_skip_434375_LIHC_TCGA-G3-A3CJ-01.png | |
exon_skip_43567_LIHC_TCGA-G3-A3CJ-01.png | |
exon_skip_436327_LIHC_TCGA-G3-A3CJ-01.png | |
exon_skip_436618_LIHC_TCGA-G3-A3CJ-01.png | |
exon_skip_444593_LIHC_TCGA-G3-A3CJ-01.png | |
exon_skip_445559_LIHC_TCGA-G3-A3CJ-01.png | |
exon_skip_447600_LIHC_TCGA-G3-A3CJ-01.png | |
exon_skip_452739_LIHC_TCGA-G3-A3CJ-01.png | |
exon_skip_4535_LIHC_TCGA-G3-A3CJ-01.png | |
exon_skip_457245_LIHC_TCGA-G3-A3CJ-01.png | |
exon_skip_45824_LIHC_TCGA-G3-A3CJ-01.png | |
exon_skip_464169_LIHC_TCGA-G3-A3CJ-01.png | |
exon_skip_464999_LIHC_TCGA-G3-A3CJ-01.png | |
exon_skip_466343_LIHC_TCGA-G3-A3CJ-01.png | |
exon_skip_467017_LIHC_TCGA-G3-A3CJ-01.png | |
exon_skip_468347_LIHC_TCGA-G3-A3CJ-01.png | |
exon_skip_470485_LIHC_TCGA-G3-A3CJ-01.png | |
exon_skip_478117_LIHC_TCGA-G3-A3CJ-01.png | |
exon_skip_483502_LIHC_TCGA-G3-A3CJ-01.png | |
exon_skip_483618_LIHC_TCGA-G3-A3CJ-01.png | |
exon_skip_483622_LIHC_TCGA-G3-A3CJ-01.png | |
exon_skip_492152_LIHC_TCGA-G3-A3CJ-01.png | |
exon_skip_499409_LIHC_TCGA-G3-A3CJ-01.png | |
exon_skip_502144_LIHC_TCGA-G3-A3CJ-01.png | |
exon_skip_504288_LIHC_TCGA-G3-A3CJ-01.png | |
exon_skip_504556_LIHC_TCGA-G3-A3CJ-01.png | |
exon_skip_506095_LIHC_TCGA-G3-A3CJ-01.png | |
exon_skip_506097_LIHC_TCGA-G3-A3CJ-01.png | |
exon_skip_507316_LIHC_TCGA-G3-A3CJ-01.png | |
exon_skip_507513_LIHC_TCGA-G3-A3CJ-01.png | |
exon_skip_55516_LIHC_TCGA-G3-A3CJ-01.png | |
exon_skip_57597_LIHC_TCGA-G3-A3CJ-01.png | |
exon_skip_57603_LIHC_TCGA-G3-A3CJ-01.png | |
exon_skip_5818_LIHC_TCGA-G3-A3CJ-01.png | |
exon_skip_5861_LIHC_TCGA-G3-A3CJ-01.png | |
exon_skip_58894_LIHC_TCGA-G3-A3CJ-01.png | |
exon_skip_59476_LIHC_TCGA-G3-A3CJ-01.png | |
exon_skip_60476_LIHC_TCGA-G3-A3CJ-01.png | |
exon_skip_67293_LIHC_TCGA-G3-A3CJ-01.png | |
exon_skip_67402_LIHC_TCGA-G3-A3CJ-01.png | |
exon_skip_69019_LIHC_TCGA-G3-A3CJ-01.png | |
exon_skip_71100_LIHC_TCGA-G3-A3CJ-01.png | |
exon_skip_73796_LIHC_TCGA-G3-A3CJ-01.png | |
exon_skip_84528_LIHC_TCGA-G3-A3CJ-01.png | |
exon_skip_86050_LIHC_TCGA-G3-A3CJ-01.png | |
exon_skip_86051_LIHC_TCGA-G3-A3CJ-01.png | |
exon_skip_86135_LIHC_TCGA-G3-A3CJ-01.png | |
exon_skip_87721_LIHC_TCGA-G3-A3CJ-01.png | |
exon_skip_93891_LIHC_TCGA-G3-A3CJ-01.png | |
exon_skip_94866_LIHC_TCGA-G3-A3CJ-01.png | |
exon_skip_96453_LIHC_TCGA-G3-A3CJ-01.png | |
exon_skip_98550_LIHC_TCGA-G3-A3CJ-01.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 | 77679184 | 77679400 | 77679205 | 77679205 | Missense_Mutation | T | C | p.H196R |
| SNU719_STOMACH | 77693969 | 77694022 | 77693975 | 77693975 | Missense_Mutation | A | C | p.F129V |
| KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 77703329 | 77703462 | 77703332 | 77703332 | Missense_Mutation | T | C | p.T112A |
| OMC1_CERVIX | 77703329 | 77703462 | 77703371 | 77703371 | Missense_Mutation | G | A | p.R99C |
| K2_SKIN | 77703329 | 77703462 | 77703431 | 77703431 | Missense_Mutation | A | C | p.W79G |
| LOVO_LARGE_INTESTINE | 77710724 | 77711025 | 77710737 | 77710737 | Missense_Mutation | G | A | p.R64W |
| NCIH596_LUNG | 77710724 | 77711025 | 77710770 | 77710770 | Missense_Mutation | C | G | p.V53L |
| NCIH2126_LUNG | 77710724 | 77711025 | 77710803 | 77710803 | Missense_Mutation | T | C | p.R42G |
| SCLC22H_LUNG | 77710724 | 77711025 | 77710842 | 77710842 | Missense_Mutation | C | A | p.G29W |
| SCLC21H_LUNG | 77710724 | 77711025 | 77710842 | 77710842 | Missense_Mutation | C | A | p.G29W |
| LOVO_LARGE_INTESTINE | 77710724 | 77711025 | 77710902 | 77710902 | Missense_Mutation | G | A | p.L9F |
Top |
Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for PQLC1 |
| 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 |
| exon_skip_300094 | 18 | 77703328:77703462:77710723:77711025:77711580:77711603 | 77710723:77711025 | ENST00000397778.2,ENST00000590381.1,ENST00000593030.2 | HNSC | rs2012676 | chr18:77710980 | G/A | 2.10e-03 |
| exon_skip_300094 | 18 | 77703328:77703462:77710723:77711025:77711580:77711603 | 77710723:77711025 | ENST00000397778.2,ENST00000590381.1,ENST00000593030.2 | LIHC | rs2012676 | chr18:77710980 | G/A | 3.80e-04 |
| exon_skip_300094 | 18 | 77703328:77703462:77710723:77711025:77711580:77711603 | 77710723:77711025 | ENST00000397778.2,ENST00000590381.1,ENST00000593030.2 | LIHC | rs2012676 | chr18:77710980 | G/A | 3.82e-04 |
| exon_skip_300093 | 18 | 77703374:77703462:77709686:77709838:77710723:77710817 | 77709686:77709838 | ENST00000351365.3,ENST00000409073.1 | HNSC | rs9965386 | chr18:77709831 | C/T | 2.19e-03 |
| exon_skip_300093 | 18 | 77703374:77703462:77709686:77709838:77710723:77710817 | 77709686:77709838 | ENST00000351365.3,ENST00000409073.1 | KIRC | rs62101202 | chr18:77709709 | T/C | 3.39e-03 |
| exon_skip_300093 | 18 | 77703374:77703462:77709686:77709838:77710723:77710817 | 77709686:77709838 | ENST00000351365.3,ENST00000409073.1 | LIHC | rs9965386 | chr18:77709831 | C/T | 3.21e-04 |
| exon_skip_300093 | 18 | 77703374:77703462:77709686:77709838:77710723:77710817 | 77709686:77709838 | ENST00000351365.3,ENST00000409073.1 | LIHC | rs9965386 | chr18:77709831 | C/T | 3.24e-04 |
| exon_skip_300093 | 18 | 77703374:77703462:77709686:77709838:77710723:77710817 | 77709686:77709838 | ENST00000351365.3,ENST00000409073.1 | LIHC | rs62101202 | chr18:77709709 | T/C | 6.67e-04 |
| exon_skip_300093 | 18 | 77703374:77703462:77709686:77709838:77710723:77710817 | 77709686:77709838 | ENST00000351365.3,ENST00000409073.1 | LUSC | rs62101202 | chr18:77709709 | T/C | 4.09e-06 |
| exon_skip_300093 | 18 | 77703374:77703462:77709686:77709838:77710723:77710817 | 77709686:77709838 | ENST00000351365.3,ENST00000409073.1 | STAD | rs62101202 | chr18:77709709 | T/C | 4.16e-04 |
| exon_skip_300093 | 18 | 77703374:77703462:77709686:77709838:77710723:77710817 | 77709686:77709838 | ENST00000351365.3,ENST00000409073.1 | UCS | rs9965386 | chr18:77709831 | C/T | 1.02e-05 |
Top |
Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for PQLC1 |
Top |
Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for PQLC1 |
Top |
RelatedDrugs for PQLC1 |
| 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 PQLC1 |
| 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)
|