|
Open reading frame (ORF) annotation in the exon skipping event | |
3'-UTR located exon skipping events lost miRNA binding sites | |
Splicing Quantitative Trait Loci (sQTLs) in the skipped exons | |
Gene summary for PCM1 |
Gene summary |
Gene information | Gene symbol | PCM1 | Gene ID | 5108 |
Gene name | pericentriolar material 1 | |
Synonyms | PTC4|RET/PCM-1 | |
Cytomap | 8p22 | |
Type of gene | protein-coding | |
Description | pericentriolar material 1 proteinPCM-1hPCM-1pericentriolar material 1, PCM1 | |
Modification date | 20200327 | |
UniProtAcc | ||
Context |
Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
Gene | GO ID | GO term | PubMed ID |
Top |
Gene structures and expression levels for PCM1 |
Skipped exons in the ROSMAP, MSBB, and Mayo 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. |
Differentially expressed gene analysis across multiple brain tissues between AD and control. |
Tissue type | DEG direction | Base mean exp. | log2FC(AD/control) | P-value | Adj. p-value |
Differentially expressed isoform analysis across multiple brain tissues between AD and control. |
Tissue type | DEG direction | ENST | Transcript info. | Base mean exp. | log2FC(AD/control) | P-value | Adjc. p-value |
CB | UP | ENST00000518537.5 | PCM1-206:protein_coding:PCM1 | 7.274300e+01 | 8.694476e-01 | 1.050169e-09 | 4.549617e-08 |
CB | UP | ENST00000518762.1 | PCM1-207:lncRNA:PCM1 | 9.502447e+00 | 1.873275e+00 | 8.535431e-08 | 1.854635e-06 |
CB | UP | ENST00000518930.1 | PCM1-209:lncRNA:PCM1 | 1.225107e+00 | 1.595654e+00 | 1.106409e-04 | 8.061299e-04 |
CB | UP | ENST00000325083.12 | PCM1-201:protein_coding:PCM1 | 2.115214e+02 | 1.341868e+00 | 1.263867e-04 | 9.032918e-04 |
CB | UP | ENST00000523055.5 | PCM1-218:protein_coding:PCM1 | 8.016451e+00 | 8.545209e-01 | 5.795324e-04 | 3.264516e-03 |
CB | UP | ENST00000517836.5 | PCM1-205:retained_intron:PCM1 | 1.335903e+01 | 9.555814e-01 | 8.337498e-03 | 2.993688e-02 |
TC | UP | ENST00000523055.5 | PCM1-218:protein_coding:PCM1 | 6.840447e+00 | 9.247261e-01 | 1.650182e-04 | 2.399729e-03 |
Landscape of isoform expressions across multiple brain tissues between AD and control. |
Top |
Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for PCM1 |
Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap). |
All exon skipping events in AD cohorts. |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon |
exon_skip_104846 | chr8 | 17962073:17962174:17963101:17963291:17964568:17964770 | 17963101:17963291 |
exon_skip_106232 | chr8 | 17972673:17972687:17980591:17980755:17983233:17983281 | 17980591:17980755 |
exon_skip_121226 | chr8 | 17923028:17923188:17924713:17924780:17935589:17935706 | 17924713:17924780 |
exon_skip_122688 | chr8 | 18013882:18014036:18014584:18014840:18025361:18025453 | 18014584:18014840 |
exon_skip_124337 | chr8 | 18013988:18014036:18014584:18014840:18025361:18025453 | 18014584:18014840 |
exon_skip_131723 | chr8 | 17924744:17924780:17934706:17934858:17935589:17935706 | 17934706:17934858 |
exon_skip_139306 | chr8 | 17938740:17939009:17939691:17939861:17947186:17947363 | 17939691:17939861 |
exon_skip_150531 | chr8 | 17934706:17934858:17935589:17935706:17937134:17937321 | 17935589:17935706 |
exon_skip_162394 | chr8 | 17980591:17980755:17983233:17983289:17985447:17985619 | 17983233:17983289 |
exon_skip_174944 | chr8 | 17923028:17923188:17935589:17935706:17937134:17937321 | 17935589:17935706 |
exon_skip_183324 | chr8 | 17993483:17993619:18006263:18006397:18009547:18009665 | 18006263:18006397 |
exon_skip_186534 | chr8 | 17966980:17967170:17969577:17969748:17972329:17972642 | 17969577:17969748 |
exon_skip_187043 | chr8 | 17960315:17960444:17962034:17962174:17963101:17963291 | 17962034:17962174 |
exon_skip_189935 | chr8 | 17972673:17972687:17980591:17980755:17985447:17985515 | 17980591:17980755 |
exon_skip_202517 | chr8 | 17952970:17953186:17955470:17955653:17956604:17956777 | 17955470:17955653 |
exon_skip_219059 | chr8 | 17960315:17960444:17962034:17962174:17964568:17964768 | 17962034:17962174 |
exon_skip_220869 | chr8 | 17980591:17980755:17983233:17983289:17985447:17985456 | 17983233:17983289 |
exon_skip_221094 | chr8 | 17980591:17980755:17983233:17983289:17985447:17985515 | 17983233:17983289 |
exon_skip_230781 | chr8 | 17939809:17939861:17940042:17940158:17947186:17947363 | 17940042:17940158 |
exon_skip_235282 | chr8 | 17980221:17980755:17982540:17982637:17983233:17983281 | 17982540:17982637 |
exon_skip_242636 | chr8 | 17947186:17947363:17950615:17950724:17952970:17953035 | 17950615:17950724 |
exon_skip_25782 | chr8 | 17993553:17993619:18006263:18006397:18009547:18009665 | 18006263:18006397 |
exon_skip_266732 | chr8 | 17962034:17962174:17963101:17963291:17964568:17964768 | 17963101:17963291 |
exon_skip_270302 | chr8 | 17960317:17960444:17962034:17962174:17963101:17963291 | 17962034:17962174 |
exon_skip_276761 | chr8 | 17972673:17972687:17980591:17980755:17985447:17985619 | 17980591:17980755 |
exon_skip_284030 | chr8 | 17923028:17923188:17924713:17924780:17934706:17934858 | 17924713:17924780 |
exon_skip_286214 | chr8 | 18014584:18014840:18025361:18025453:18025544:18025611 | 18025361:18025453 |
exon_skip_45360 | chr8 | 17956604:17956777:17957264:17957421:17957540:17957775 | 17957264:17957421 |
exon_skip_45602 | chr8 | 17939691:17939861:17940042:17940158:17947186:17947363 | 17940042:17940158 |
exon_skip_4610 | chr8 | 18009547:18009744:18010609:18010668:18011237:18011257 | 18010609:18010668 |
exon_skip_61127 | chr8 | 17972673:17972687:17980591:17980755:17985447:17985456 | 17980591:17980755 |
exon_skip_66329 | chr8 | 17965999:17966218:17966328:17966473:17966980:17967170 | 17966328:17966473 |
exon_skip_70678 | chr8 | 17962034:17962174:17963101:17963291:17964568:17964607 | 17963101:17963291 |
Differentially expressed PSI values of individual exon skipping events in multiple brain tissues between AD and control. |
Exon skipping information | Tissue type | Avg(PSIs) in AD | Avg(PSIs) in control | Difference (PSI) | Adj. p-value |
Top |
Open reading frame (ORF) annotation in the exon skipping event for PCM1 |
Open reading frame (ORF) of individual exon skipping events in ROSMAP based on the Ensembl gene structure combined from isoforms. |
ENST | Start of skipped exon | End of skipped exon | ORF |
ENST00000325083 | 17950615 | 17950724 | Frame-shift |
ENST00000325083 | 17963101 | 17963291 | Frame-shift |
ENST00000325083 | 17966328 | 17966473 | Frame-shift |
ENST00000325083 | 18014584 | 18014840 | Frame-shift |
ENST00000325083 | 17962034 | 17962174 | In-frame |
ENST00000325083 | 17980591 | 17980755 | In-frame |
ENST00000325083 | 18006263 | 18006397 | In-frame |
Open reading frame (ORF) of individual exon skipping events in MSBB based on the Ensembl gene structure combined from isoforms. |
ENST | Start of skipped exon | End of skipped exon | ORF |
ENST00000325083 | 17950615 | 17950724 | Frame-shift |
ENST00000325083 | 17963101 | 17963291 | Frame-shift |
ENST00000325083 | 17966328 | 17966473 | Frame-shift |
ENST00000325083 | 18014584 | 18014840 | Frame-shift |
ENST00000325083 | 17962034 | 17962174 | In-frame |
ENST00000325083 | 17980591 | 17980755 | In-frame |
ENST00000325083 | 18006263 | 18006397 | In-frame |
Open reading frame (ORF) of individual exon skipping events in Mayo based on the Ensembl gene structure combined from isoforms. |
ENST | Start of skipped exon | End of skipped exon | ORF |
ENST00000325083 | 17950615 | 17950724 | Frame-shift |
ENST00000325083 | 17955470 | 17955653 | Frame-shift |
ENST00000325083 | 17957264 | 17957421 | Frame-shift |
ENST00000325083 | 17963101 | 17963291 | Frame-shift |
ENST00000325083 | 17966328 | 17966473 | Frame-shift |
ENST00000325083 | 17969577 | 17969748 | Frame-shift |
ENST00000325083 | 18014584 | 18014840 | Frame-shift |
ENST00000325083 | 17939691 | 17939861 | In-frame |
ENST00000325083 | 17962034 | 17962174 | In-frame |
ENST00000325083 | 17980591 | 17980755 | In-frame |
ENST00000325083 | 18006263 | 18006397 | In-frame |
ENST00000325083 | 18010609 | 18010668 | In-frame |
ENST00000325083 | 18025361 | 18025453 | In-frame |
Top |
Infer the effects of exon skipping event on protein functional features for PCM1 |
p-ENSG00000078674_img4.png |
Loci of skipped exons in ROSMAP 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 |
ENST00000325083 | 6837 | 2024 | 17962034 | 17962174 | 2763 | 2902 | 774 | 821 |
ENST00000325083 | 6837 | 2024 | 17980591 | 17980755 | 4384 | 4547 | 1315 | 1369 |
ENST00000325083 | 6837 | 2024 | 18006263 | 18006397 | 5268 | 5401 | 1609 | 1654 |
Loci of skipped exons in MSBB 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 |
ENST00000325083 | 6837 | 2024 | 17962034 | 17962174 | 2763 | 2902 | 774 | 821 |
ENST00000325083 | 6837 | 2024 | 17980591 | 17980755 | 4384 | 4547 | 1315 | 1369 |
ENST00000325083 | 6837 | 2024 | 18006263 | 18006397 | 5268 | 5401 | 1609 | 1654 |
Loci of skipped exons in Mayo 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 |
ENST00000325083 | 6837 | 2024 | 17939691 | 17939861 | 1053 | 1222 | 204 | 261 |
ENST00000325083 | 6837 | 2024 | 17962034 | 17962174 | 2763 | 2902 | 774 | 821 |
ENST00000325083 | 6837 | 2024 | 17980591 | 17980755 | 4384 | 4547 | 1315 | 1369 |
ENST00000325083 | 6837 | 2024 | 18006263 | 18006397 | 5268 | 5401 | 1609 | 1654 |
ENST00000325083 | 6837 | 2024 | 18010609 | 18010668 | 5601 | 5659 | 1720 | 1740 |
ENST00000325083 | 6837 | 2024 | 18025361 | 18025453 | 6282 | 6373 | 1947 | 1978 |
Lost protein functional features of individual exon skipping events in ROSMAP. |
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 |
Q15154 | 774 | 821 | 492 | 2024 | Alternative sequence | ID=VSP_022610;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
Q15154 | 774 | 821 | 2 | 2024 | Chain | ID=PRO_0000274037;Note=Pericentriolar material 1 protein |
Q15154 | 1315 | 1369 | 492 | 2024 | Alternative sequence | ID=VSP_022610;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
Q15154 | 1315 | 1369 | 1315 | 1370 | Alternative sequence | ID=VSP_022611;Note=In isoform 2 and isoform 4. RYESASMSSTCEPCKSRNRHSAQTEEPVQAKVFSRKNHEQLEKIIKCNRSTEISSE->K;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
Q15154 | 1315 | 1369 | 2 | 2024 | Chain | ID=PRO_0000274037;Note=Pericentriolar material 1 protein |
Q15154 | 1315 | 1369 | 1318 | 1318 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q9R0L6 |
Q15154 | 1315 | 1369 | 1320 | 1320 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q9R0L6 |
Q15154 | 1315 | 1369 | 1326 | 1326 | Natural variant | ID=VAR_047382;Note=E->D;Dbxref=dbSNP:rs34932823 |
Q15154 | 1315 | 1369 | 1279 | 1799 | Region | Note=Interaction with HAP1;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9361024;Dbxref=PMID:9361024 |
Q15154 | 1315 | 1369 | 1342 | 1342 | Sequence conflict | Note=V->L;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
Q15154 | 1315 | 1369 | 1314 | 1315 | Site | Note=Breakpoint for translocation to form PCM1-JAK2 fusion protein |
Q15154 | 1315 | 1369 | 1369 | 1370 | Site | Note=Breakpoint for translocation to form PCM1-JAK2 fusion protein |
Q15154 | 1609 | 1654 | 492 | 2024 | Alternative sequence | ID=VSP_022610;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
Q15154 | 1609 | 1654 | 2 | 2024 | Chain | ID=PRO_0000274037;Note=Pericentriolar material 1 protein |
Q15154 | 1609 | 1654 | 1279 | 1799 | Region | Note=Interaction with HAP1;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9361024;Dbxref=PMID:9361024 |
Q15154 | 1609 | 1654 | 1609 | 1610 | Site | Note=Breakpoint for translocation to form PCM1-RET fusion protein |
Lost protein functional features of individual exon skipping events in MSBB. |
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 |
Q15154 | 774 | 821 | 492 | 2024 | Alternative sequence | ID=VSP_022610;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
Q15154 | 774 | 821 | 2 | 2024 | Chain | ID=PRO_0000274037;Note=Pericentriolar material 1 protein |
Q15154 | 1315 | 1369 | 492 | 2024 | Alternative sequence | ID=VSP_022610;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
Q15154 | 1315 | 1369 | 1315 | 1370 | Alternative sequence | ID=VSP_022611;Note=In isoform 2 and isoform 4. RYESASMSSTCEPCKSRNRHSAQTEEPVQAKVFSRKNHEQLEKIIKCNRSTEISSE->K;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
Q15154 | 1315 | 1369 | 2 | 2024 | Chain | ID=PRO_0000274037;Note=Pericentriolar material 1 protein |
Q15154 | 1315 | 1369 | 1318 | 1318 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q9R0L6 |
Q15154 | 1315 | 1369 | 1320 | 1320 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q9R0L6 |
Q15154 | 1315 | 1369 | 1326 | 1326 | Natural variant | ID=VAR_047382;Note=E->D;Dbxref=dbSNP:rs34932823 |
Q15154 | 1315 | 1369 | 1279 | 1799 | Region | Note=Interaction with HAP1;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9361024;Dbxref=PMID:9361024 |
Q15154 | 1315 | 1369 | 1342 | 1342 | Sequence conflict | Note=V->L;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
Q15154 | 1315 | 1369 | 1314 | 1315 | Site | Note=Breakpoint for translocation to form PCM1-JAK2 fusion protein |
Q15154 | 1315 | 1369 | 1369 | 1370 | Site | Note=Breakpoint for translocation to form PCM1-JAK2 fusion protein |
Q15154 | 1609 | 1654 | 492 | 2024 | Alternative sequence | ID=VSP_022610;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
Q15154 | 1609 | 1654 | 2 | 2024 | Chain | ID=PRO_0000274037;Note=Pericentriolar material 1 protein |
Q15154 | 1609 | 1654 | 1279 | 1799 | Region | Note=Interaction with HAP1;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9361024;Dbxref=PMID:9361024 |
Q15154 | 1609 | 1654 | 1609 | 1610 | Site | Note=Breakpoint for translocation to form PCM1-RET fusion protein |
Lost protein functional features of individual exon skipping events in Mayo. |
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 |
Q15154 | 204 | 261 | 2 | 2024 | Chain | ID=PRO_0000274037;Note=Pericentriolar material 1 protein |
Q15154 | 204 | 261 | 218 | 301 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
Q15154 | 774 | 821 | 492 | 2024 | Alternative sequence | ID=VSP_022610;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
Q15154 | 774 | 821 | 2 | 2024 | Chain | ID=PRO_0000274037;Note=Pericentriolar material 1 protein |
Q15154 | 1315 | 1369 | 492 | 2024 | Alternative sequence | ID=VSP_022610;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
Q15154 | 1315 | 1369 | 1315 | 1370 | Alternative sequence | ID=VSP_022611;Note=In isoform 2 and isoform 4. RYESASMSSTCEPCKSRNRHSAQTEEPVQAKVFSRKNHEQLEKIIKCNRSTEISSE->K;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
Q15154 | 1315 | 1369 | 2 | 2024 | Chain | ID=PRO_0000274037;Note=Pericentriolar material 1 protein |
Q15154 | 1315 | 1369 | 1318 | 1318 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q9R0L6 |
Q15154 | 1315 | 1369 | 1320 | 1320 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q9R0L6 |
Q15154 | 1315 | 1369 | 1326 | 1326 | Natural variant | ID=VAR_047382;Note=E->D;Dbxref=dbSNP:rs34932823 |
Q15154 | 1315 | 1369 | 1279 | 1799 | Region | Note=Interaction with HAP1;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9361024;Dbxref=PMID:9361024 |
Q15154 | 1315 | 1369 | 1342 | 1342 | Sequence conflict | Note=V->L;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
Q15154 | 1315 | 1369 | 1314 | 1315 | Site | Note=Breakpoint for translocation to form PCM1-JAK2 fusion protein |
Q15154 | 1315 | 1369 | 1369 | 1370 | Site | Note=Breakpoint for translocation to form PCM1-JAK2 fusion protein |
Q15154 | 1609 | 1654 | 492 | 2024 | Alternative sequence | ID=VSP_022610;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
Q15154 | 1609 | 1654 | 2 | 2024 | Chain | ID=PRO_0000274037;Note=Pericentriolar material 1 protein |
Q15154 | 1609 | 1654 | 1279 | 1799 | Region | Note=Interaction with HAP1;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9361024;Dbxref=PMID:9361024 |
Q15154 | 1609 | 1654 | 1609 | 1610 | Site | Note=Breakpoint for translocation to form PCM1-RET fusion protein |
Q15154 | 1720 | 1740 | 492 | 2024 | Alternative sequence | ID=VSP_022610;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
Q15154 | 1720 | 1740 | 2 | 2024 | Chain | ID=PRO_0000274037;Note=Pericentriolar material 1 protein |
Q15154 | 1720 | 1740 | 1730 | 1730 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:17081983,ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:21406692,ECO:0000244|PubMed:23186163;Dbxref=PMID:1 |
Q15154 | 1720 | 1740 | 1279 | 1799 | Region | Note=Interaction with HAP1;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9361024;Dbxref=PMID:9361024 |
Q15154 | 1947 | 1978 | 492 | 2024 | Alternative sequence | ID=VSP_022610;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
Q15154 | 1947 | 1978 | 1838 | 1947 | Alternative sequence | ID=VSP_059401;Note=In isoform 4. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
Q15154 | 1947 | 1978 | 2 | 2024 | Chain | ID=PRO_0000274037;Note=Pericentriolar material 1 protein |
Q15154 | 1947 | 1978 | 1958 | 1958 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:21406692;Dbxref=PMID:21406692 |
Q15154 | 1947 | 1978 | 1977 | 1977 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:19690332,ECO:0000244|PubMed:23186163;Dbxref=PMID:19690332,PMID:23186163 |
Q15154 | 1947 | 1978 | 1913 | 2024 | Region | Note=Interaction with BBS4;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15107855;Dbxref=PMID:15107855 |
Q15154 | 1947 | 1978 | 1947 | 1948 | Site | Note=Breakpoint for translocation to form PCM1-JAK2 fusion protein |
Top |
3'-UTR located exon skipping events that lost miRNA binding sites in PCM1 |
3'-UTR exon skipping evnets lost miRNA binding. |
Tissue type | ENST | Exon skip start | Exon skip end | microRNA | Binding site by TargetScan | Binding type by TargetScan | Bdinding site by miRanda | Score of miRanda | Energy by miRanda |
Top |
SNVs in the skipped exons for PCM1 |
- Differential PSIs between mutated versus non-mutated samples. |
- Depth of Coverage in the skipped exon of the mutated samples. |
- Sashimi plot in the skipped exon of the mutated samples. |
- Non-synonymous mutations located in the skipped exons. |
Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
- 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 |
Top |
AD stage-associated exon skippint events for PCM1 |
Associated exon skipping events with Braak staging or Clinical Dementia Rating (CDR). |
AD stage info | Cohort | Tissue | SE id | Coefficient | P-value | Chromosome | Strand | E1 start | E1 end | Skipped start | Skipped end | E2 start | E2 end |
ADstage | MSBB | IFG | exon_skip_266732 | -4.699848e-01 | 1.161603e-02 | chr8 | + | 17962034 | 17962174 | 17963101 | 17963291 | 17964568 | 17964768 |
Top |
Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for PCM1 |
sQTL information located at the skipped exons. |
Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
TC | exon_skip_121226 | rs850845 | chr8:17851395 | 1.757940e-08 | 9.402105e-06 |
TC | exon_skip_121226 | rs2653426 | chr8:17896952 | 1.757940e-08 | 9.402105e-06 |
TC | exon_skip_121226 | rs432070 | chr8:17901480 | 1.757940e-08 | 9.402105e-06 |
TC | exon_skip_121226 | rs426372 | chr8:17905856 | 1.757940e-08 | 9.402105e-06 |
TC | exon_skip_121226 | rs439968 | chr8:17911684 | 1.757940e-08 | 9.402105e-06 |
TC | exon_skip_121226 | rs439511 | chr8:17987938 | 1.757940e-08 | 9.402105e-06 |
TC | exon_skip_121226 | rs2237848 | chr8:18017095 | 6.448902e-06 | 1.708522e-03 |
TC | exon_skip_45602 | rs12056521 | chr8:17965790 | 7.385740e-05 | 1.282829e-02 |
TC | exon_skip_45602 | rs12056629 | chr8:18003354 | 7.385740e-05 | 1.282829e-02 |
HCC | exon_skip_121226 | rs439511 | chr8:17987938 | 2.646559e-13 | 1.428293e-10 |
HCC | exon_skip_121226 | rs423944 | chr8:17891184 | 1.141898e-10 | 3.942452e-08 |
HCC | exon_skip_121226 | rs2653426 | chr8:17896952 | 1.141898e-10 | 3.942452e-08 |
HCC | exon_skip_121226 | rs393221 | chr8:17898159 | 1.141898e-10 | 3.942452e-08 |
HCC | exon_skip_121226 | rs377085 | chr8:17899893 | 1.141898e-10 | 3.942452e-08 |
HCC | exon_skip_121226 | rs426354 | chr8:17900087 | 1.141898e-10 | 3.942452e-08 |
HCC | exon_skip_121226 | rs426680 | chr8:17900244 | 1.141898e-10 | 3.942452e-08 |
HCC | exon_skip_121226 | rs418656 | chr8:17900298 | 1.141898e-10 | 3.942452e-08 |
HCC | exon_skip_121226 | rs432070 | chr8:17901480 | 1.141898e-10 | 3.942452e-08 |
HCC | exon_skip_121226 | rs365338 | chr8:17904763 | 1.141898e-10 | 3.942452e-08 |
HCC | exon_skip_121226 | rs402227 | chr8:17905137 | 1.141898e-10 | 3.942452e-08 |
HCC | exon_skip_121226 | rs426372 | chr8:17905856 | 1.141898e-10 | 3.942452e-08 |
HCC | exon_skip_121226 | rs392939 | chr8:17905893 | 1.141898e-10 | 3.942452e-08 |
HCC | exon_skip_121226 | rs365509 | chr8:17906849 | 1.141898e-10 | 3.942452e-08 |
HCC | exon_skip_121226 | rs850845 | chr8:17851395 | 1.086383e-09 | 3.216238e-07 |
HCC | exon_skip_121226 | rs11987695 | chr8:17923576 | 2.406009e-09 | 6.691459e-07 |
HCC | exon_skip_121226 | rs3850746 | chr8:17930027 | 2.406009e-09 | 6.691459e-07 |
HCC | exon_skip_121226 | rs2237848 | chr8:18017095 | 4.162356e-09 | 1.101995e-06 |
HCC | exon_skip_121226 | rs392989 | chr8:17906086 | 6.612733e-08 | 1.375208e-05 |
HCC | exon_skip_121226 | rs2517297 | chr8:17876103 | 8.454268e-06 | 1.087760e-03 |
HCC | exon_skip_121226 | rs9325823 | chr8:17878362 | 7.267096e-05 | 6.986012e-03 |
HCC | exon_skip_121226 | rs3853531 | chr8:17891411 | 7.267096e-05 | 6.986012e-03 |
HCC | exon_skip_121226 | rs2157650 | chr8:17847863 | 7.607451e-05 | 7.242055e-03 |
HCC | exon_skip_121226 | rs6586661 | chr8:17855611 | 8.125303e-05 | 7.678029e-03 |
HCC | exon_skip_121226 | rs6586662 | chr8:17855681 | 8.125303e-05 | 7.678029e-03 |
PCC | exon_skip_121226 | rs439511 | chr8:17987938 | 1.331366e-05 | 3.251656e-03 |
PCC | exon_skip_121226 | rs850845 | chr8:17851395 | 2.437076e-05 | 5.467248e-03 |
PCC | exon_skip_121226 | rs423944 | chr8:17891184 | 7.074857e-05 | 1.314276e-02 |
PCC | exon_skip_121226 | rs2653426 | chr8:17896952 | 7.074857e-05 | 1.314276e-02 |
PCC | exon_skip_121226 | rs393221 | chr8:17898159 | 7.074857e-05 | 1.314276e-02 |
PCC | exon_skip_121226 | rs377085 | chr8:17899893 | 7.074857e-05 | 1.314276e-02 |
PCC | exon_skip_121226 | rs426354 | chr8:17900087 | 7.074857e-05 | 1.314276e-02 |
PCC | exon_skip_121226 | rs426680 | chr8:17900244 | 7.074857e-05 | 1.314276e-02 |
PCC | exon_skip_121226 | rs418656 | chr8:17900298 | 7.074857e-05 | 1.314276e-02 |
PCC | exon_skip_121226 | rs432070 | chr8:17901480 | 7.074857e-05 | 1.314276e-02 |
PCC | exon_skip_121226 | rs365338 | chr8:17904763 | 7.074857e-05 | 1.314276e-02 |
PCC | exon_skip_121226 | rs402227 | chr8:17905137 | 7.074857e-05 | 1.314276e-02 |
PCC | exon_skip_121226 | rs392939 | chr8:17905893 | 7.074857e-05 | 1.314276e-02 |
PCC | exon_skip_121226 | rs392989 | chr8:17906086 | 7.074857e-05 | 1.314276e-02 |
PCC | exon_skip_121226 | rs365509 | chr8:17906849 | 7.074857e-05 | 1.314276e-02 |
PCC | exon_skip_121226 | rs426372 | chr8:17905856 | 7.074857e-05 | 1.314276e-02 |
PCC | exon_skip_45602 | rs208021 | chr8:18021883 | 1.466658e-04 | 2.347753e-02 |
PCC | exon_skip_121226 | rs2237848 | chr8:18017095 | 3.305523e-04 | 4.405938e-02 |
DLPFC | exon_skip_121226 | rs850845 | chr8:17851395 | 3.031751e-06 | 3.897170e-04 |
DLPFC | exon_skip_121226 | rs392989 | chr8:17906086 | 6.948472e-06 | 8.139506e-04 |
DLPFC | exon_skip_121226 | rs423944 | chr8:17891184 | 1.068907e-05 | 1.194337e-03 |
DLPFC | exon_skip_121226 | rs2653426 | chr8:17896952 | 1.068907e-05 | 1.194337e-03 |
DLPFC | exon_skip_121226 | rs393221 | chr8:17898159 | 1.068907e-05 | 1.194337e-03 |
DLPFC | exon_skip_121226 | rs377085 | chr8:17899893 | 1.068907e-05 | 1.194337e-03 |
DLPFC | exon_skip_121226 | rs426354 | chr8:17900087 | 1.068907e-05 | 1.194337e-03 |
DLPFC | exon_skip_121226 | rs426680 | chr8:17900244 | 1.068907e-05 | 1.194337e-03 |
DLPFC | exon_skip_121226 | rs418656 | chr8:17900298 | 1.068907e-05 | 1.194337e-03 |
DLPFC | exon_skip_121226 | rs432070 | chr8:17901480 | 1.068907e-05 | 1.194337e-03 |
DLPFC | exon_skip_121226 | rs365338 | chr8:17904763 | 1.068907e-05 | 1.194337e-03 |
DLPFC | exon_skip_121226 | rs402227 | chr8:17905137 | 1.068907e-05 | 1.194337e-03 |
DLPFC | exon_skip_121226 | rs392939 | chr8:17905893 | 1.068907e-05 | 1.194337e-03 |
DLPFC | exon_skip_121226 | rs365509 | chr8:17906849 | 1.068907e-05 | 1.194337e-03 |
DLPFC | exon_skip_121226 | rs426372 | chr8:17905856 | 1.068907e-05 | 1.194337e-03 |
DLPFC | exon_skip_121226 | rs11987695 | chr8:17923576 | 4.570281e-05 | 4.279335e-03 |
DLPFC | exon_skip_121226 | rs3850746 | chr8:17930027 | 4.570281e-05 | 4.279335e-03 |
DLPFC | exon_skip_121226 | rs2237848 | chr8:18017095 | 4.751029e-05 | 4.433666e-03 |
DLPFC | exon_skip_121226 | rs439511 | chr8:17987938 | 5.472927e-05 | 5.009393e-03 |
Top |
Correlation with RNA binding proteins (RBPs) for PCM1 |
Correlated RBP and related information. |
Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
CB | ELAVL1 | exon_skip_213066 | 5.266485e-01 | 2.702574e-12 |
CB | MATR3 | exon_skip_213066 | 4.684458e-01 | 1.018856e-09 |
CB | SRSF4 | exon_skip_213066 | 5.095183e-01 | 1.742369e-11 |
CB | RBM41 | exon_skip_213066 | 4.434498e-01 | 9.427055e-09 |
DLPFC | SRSF11 | exon_skip_213066 | -4.718617e-01 | 1.189085e-17 |
FL | RALYL | exon_skip_213066 | 4.450864e-01 | 5.035294e-11 |
HCC | MSI1 | exon_skip_45602 | -4.176935e-01 | 1.068857e-12 |
IFG | CNOT4 | exon_skip_121226 | 4.457238e-01 | 1.744623e-02 |
IFG | UNK | exon_skip_121226 | 5.014389e-01 | 6.559332e-03 |
IFG | RBM4B | exon_skip_121226 | 4.134578e-01 | 2.874357e-02 |
IFG | ENOX1 | exon_skip_276761 | 5.186833e-01 | 4.685588e-03 |
IFG | SFPQ | exon_skip_162394 | 5.072020e-01 | 5.873006e-03 |
IFG | SF1 | exon_skip_162394 | 4.207939e-01 | 2.576080e-02 |
IFG | PABPC5 | exon_skip_162394 | 4.205967e-01 | 2.583753e-02 |
Top |
RelatedDrugs for PCM1 |
Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
Top |
RelatedDiseases for PCM1 |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |