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| Open reading frame (ORF) annotation in the exon skipping event |
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| 3'-UTR located exon skipping events lost miRNA binding sites |
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| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
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Gene summary for PC |
 Gene summary |
| Gene information | Gene symbol | PC | Gene ID | 5091 |
| Gene name | pyruvate carboxylase | |
| Synonyms | PCB | |
| Cytomap | 11q13.2 | |
| Type of gene | protein-coding | |
| Description | pyruvate carboxylase, mitochondrialpyruvic carboxylase | |
| Modification date | 20200313 | |
| UniProtAcc | A0A024R5C5, | |
| Context |
| 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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Gene structures and expression levels for PC |
| 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. |
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ENSG00000173599
| 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. |
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| Tissue type | DEG direction | ENST | Transcript info. | Base mean exp. | log2FC(AD/control) | P-value | Adjc. p-value |
| HCC | DOWN | ENST00000557201.5 | HNRNPC-230:protein_coding:HNRNPC | 5.120225e+01 | -1.613164e+00 | 3.646710e-05 | 3.489625e-03 |
| PG | UP | ENST00000484700.2 | GYPC-205:lncRNA:GYPC | 4.581542e+00 | 9.944685e-01 | 1.779463e-08 | 3.846792e-06 |
| PG | UP | ENST00000553444.1 | HNRNPC-206:retained_intron:HNRNPC | 4.978943e+01 | 1.202471e+00 | 2.417871e-03 | 2.731539e-02 |
| PG | UP | ENST00000511155.1 | XPC-207:protein_coding:XPC | 3.999421e+00 | 2.143119e+00 | 2.608016e-03 | 2.885148e-02 |
| CB | UP | ENST00000508624.5 | APC-208:nonsense_mediated_decay:APC | 1.459357e+01 | 1.852309e+00 | 4.868908e-12 | 5.505151e-10 |
| CB | DOWN | ENST00000553444.1 | HNRNPC-206:retained_intron:HNRNPC | 1.685981e+02 | -2.842080e+00 | 2.381952e-11 | 1.965298e-09 |
| CB | UP | ENST00000530259.1 | PC-210:retained_intron:PC | 3.033482e+01 | 8.414628e-01 | 3.038632e-11 | 2.386448e-09 |
| CB | UP | ENST00000505350.1 | APC-205:nonsense_mediated_decay:APC | 2.680520e+01 | 8.709307e-01 | 9.148470e-11 | 5.875339e-09 |
| CB | DOWN | ENST00000449098.5 | HNRNPC-204:protein_coding:HNRNPC | 3.502490e+02 | -2.033851e+00 | 8.259174e-10 | 3.725269e-08 |
| CB | UP | ENST00000554383.5 | HNRNPC-209:protein_coding:HNRNPC | 5.169810e+01 | 1.047428e+00 | 1.032472e-08 | 3.088877e-07 |
| CB | UP | ENST00000507379.5 | APC-206:protein_coding:APC | 1.118735e+01 | 1.294714e+00 | 3.862322e-08 | 9.482382e-07 |
| CB | DOWN | ENST00000318561.7 | SFTPC-201:protein_coding:SFTPC | 9.506512e+00 | -1.101430e+00 | 1.154528e-07 | 2.399640e-06 |
| CB | UP | ENST00000374018.5 | SNRPC-203:protein_coding:SNRPC | 7.662706e+01 | 8.528957e-01 | 1.837501e-07 | 3.555505e-06 |
| CB | DOWN | ENST00000524255.5 | SFTPC-210:protein_coding:SFTPC | 5.074192e+00 | -1.309962e+00 | 4.892667e-07 | 8.167272e-06 |
| CB | UP | ENST00000555611.5 | CIPC-206:protein_coding:CIPC | 3.492153e+00 | 1.102485e+00 | 5.194851e-07 | 8.586793e-06 |
| CB | UP | ENST00000508376.6 | APC-207:protein_coding:APC | 1.777846e+03 | 1.481424e+00 | 2.926185e-06 | 3.735992e-05 |
| CB | UP | ENST00000528403.6 | PC-207:protein_coding:PC | 1.269764e+01 | 1.126651e+00 | 3.301044e-06 | 4.142920e-05 |
| CB | DOWN | ENST00000253801.7 | G6PC-201:protein_coding:G6PC | 3.034812e+00 | -8.252487e-01 | 9.937599e-05 | 7.365137e-04 |
| CB | UP | ENST00000476581.6 | XPC-205:nonsense_mediated_decay:XPC | 2.660497e+01 | 1.004798e+00 | 1.469801e-04 | 1.028350e-03 |
| CB | UP | ENST00000509732.5 | APC-209:protein_coding:APC | 2.018260e+00 | 9.192945e-01 | 1.659211e-04 | 1.136808e-03 |
| CB | DOWN | ENST00000299022.10 | LIPC-201:protein_coding:LIPC | 2.490980e+00 | -1.244558e+00 | 3.073838e-04 | 1.910901e-03 |
| CB | DOWN | ENST00000535237.2 | GOPC-203:protein_coding:GOPC | 4.263075e+02 | -1.739470e+00 | 4.618365e-04 | 2.693691e-03 |
| CB | UP | ENST00000504915.2 | APC-203:protein_coding:APC | 4.038372e+00 | 8.958076e-01 | 1.130235e-03 | 5.729101e-03 |
| TC | DOWN | ENST00000553444.1 | HNRNPC-206:retained_intron:HNRNPC | 1.029205e+02 | -3.351429e+00 | 1.763938e-17 | 2.726294e-14 |
| TC | UP | ENST00000554383.5 | HNRNPC-209:protein_coding:HNRNPC | 5.922212e+01 | 1.059435e+00 | 1.678255e-12 | 5.814965e-10 |
| TC | UP | ENST00000508624.5 | APC-208:nonsense_mediated_decay:APC | 7.393828e+00 | 1.197580e+00 | 1.578822e-05 | 3.725792e-04 |
| TC | DOWN | ENST00000449098.5 | HNRNPC-204:protein_coding:HNRNPC | 2.039967e+02 | -1.599581e+00 | 3.285969e-05 | 6.633472e-04 |
| TC | UP | ENST00000508376.6 | APC-207:protein_coding:APC | 1.163962e+03 | 9.297386e-01 | 1.238460e-04 | 1.919522e-03 |
| TC | DOWN | ENST00000535237.2 | GOPC-203:protein_coding:GOPC | 1.362100e+02 | -2.546122e+00 | 2.220498e-03 | 1.816274e-02 |
| Landscape of isoform expressions across multiple brain tissues between AD and control. |
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Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for PC |
| Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap). |
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| All exon skipping events in AD cohorts. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon |
| exon_skip_13185 | chr11 | 66952430:66952468:66954249:66954436:66957869:66957996 | 66954249:66954436 |
| exon_skip_136138 | chr11 | 66851040:66851280:66851790:66851946:66852439:66852638 | 66851790:66851946 |
| exon_skip_136351 | chr11 | 66952430:66952468:66954249:66954436:66958322:66958344 | 66954249:66954436 |
| exon_skip_170670 | chr11 | 66948358:66948449:66949957:66950707:66952430:66952468 | 66949957:66950707 |
| exon_skip_220964 | chr11 | 66852778:66852836:66853239:66853383:66863774:66863956 | 66853239:66853383 |
| exon_skip_229835 | chr11 | 66952430:66952468:66957740:66957996:66958322:66958344 | 66957740:66957996 |
| exon_skip_245059 | chr11 | 66872024:66872159:66948088:66948203:66952430:66952468 | 66948088:66948203 |
| exon_skip_2672 | chr11 | 66954253:66954436:66957869:66957996:66958322:66958344 | 66957869:66957996 |
| exon_skip_53900 | chr11 | 66852778:66852836:66853239:66853451:66863774:66863956 | 66853239:66853451 |
| exon_skip_65902 | chr11 | 66872024:66872159:66952430:66952468:66957740:66957797 | 66952430:66952468 |
| exon_skip_66538 | chr11 | 66872024:66872159:66952430:66952468:66957740:66957996 | 66952430:66952468 |
| exon_skip_6801 | chr11 | 66954249:66954436:66957869:66957996:66958322:66958344 | 66957869:66957996 |
| exon_skip_68188 | chr11 | 66851040:66851280:66851790:66851851:66852439:66852638 | 66851790:66851851 |
| exon_skip_90789 | chr11 | 66849937:66850116:66850220:66850464:66850674:66850923 | 66850220:66850464 |
| 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 |
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Open reading frame (ORF) annotation in the exon skipping event for PC |
| 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 |
| ENST00000393960 | 66954249 | 66954436 | 3UTR-3UTR |
| ENST00000393955 | 66850220 | 66850464 | Frame-shift |
| ENST00000393958 | 66850220 | 66850464 | Frame-shift |
| ENST00000393960 | 66850220 | 66850464 | Frame-shift |
| 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 |
| ENST00000393960 | 66954249 | 66954436 | 3UTR-3UTR |
| 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 |
| ENST00000393960 | 66954249 | 66954436 | 3UTR-3UTR |
| ENST00000393955 | 66851790 | 66851946 | Frame-shift |
| ENST00000393958 | 66851790 | 66851946 | Frame-shift |
| ENST00000393960 | 66851790 | 66851946 | Frame-shift |
| ENST00000393955 | 66853239 | 66853383 | Frame-shift |
| ENST00000393958 | 66853239 | 66853383 | Frame-shift |
| ENST00000393960 | 66853239 | 66853383 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for PC |
p-ENSG00000173599_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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
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3'-UTR located exon skipping events that lost miRNA binding sites in PC |
| 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 |
| Mayo | ENST00000393960 | 66954249 | 66954436 | hsa-miR-6749-5p | chr11:66954389-66954396 | 8mer-1a | chr11:66954375-66954396 | 172.00 | -35.20 |
| Mayo | ENST00000393960 | 66954249 | 66954436 | hsa-miR-9898 | chr11:66954335-66954342 | 8mer-1a | chr11:66954325-66954350 | 144.00 | -17.22 |
| Mayo | ENST00000393960 | 66954249 | 66954436 | hsa-miR-3059-5p | chr11:66954343-66954350 | 8mer-1a | chr11:66954343-66954364 | 153.00 | -8.32 |
| Mayo | ENST00000393960 | 66954249 | 66954436 | hsa-miR-6881-3p | chr11:66954342-66954349 | 8mer-1a | chr11:66954325-66954350 | 144.00 | -17.22 |
| Mayo | ENST00000393960 | 66954249 | 66954436 | hsa-miR-4517 | chr11:66954288-66954295 | 8mer-1a | chr11:66954286-66954305 | 161.00 | -13.18 |
| Mayo | ENST00000393960 | 66954249 | 66954436 | hsa-miR-3138 | chr11:66954411-66954418 | 8mer-1a | chr11:66954395-66954418 | 161.00 | -27.37 |
| Mayo | ENST00000393960 | 66954249 | 66954436 | hsa-miR-3977 | chr11:66954316-66954323 | 8mer-1a | chr11:66954306-66954328 | 154.00 | -12.83 |
| Mayo | ENST00000393960 | 66954249 | 66954436 | hsa-miR-3147 | chr11:66954273-66954280 | 8mer-1a | chr11:66954271-66954295 | 147.00 | -13.12 |
| Mayo | ENST00000393960 | 66954249 | 66954436 | hsa-miR-3926 | chr11:66954362-66954369 | 8mer-1a | chr11:66954360-66954385 | 168.00 | -25.10 |
| Mayo | ENST00000393960 | 66954249 | 66954436 | hsa-miR-10400-3p | chr11:66954271-66954278 | 8mer-1a | chr11:66954271-66954295 | 147.00 | -13.12 |
| Mayo | ENST00000393960 | 66954249 | 66954436 | hsa-miR-4674 | chr11:66954271-66954278 | 8mer-1a | chr11:66954271-66954295 | 147.00 | -13.12 |
| MSBB | ENST00000393960 | 66954249 | 66954436 | hsa-miR-6749-5p | chr11:66954389-66954396 | 8mer-1a | chr11:66954375-66954396 | 172.00 | -35.20 |
| MSBB | ENST00000393960 | 66954249 | 66954436 | hsa-miR-9898 | chr11:66954335-66954342 | 8mer-1a | chr11:66954325-66954350 | 144.00 | -17.22 |
| MSBB | ENST00000393960 | 66954249 | 66954436 | hsa-miR-3059-5p | chr11:66954343-66954350 | 8mer-1a | chr11:66954343-66954364 | 153.00 | -8.32 |
| MSBB | ENST00000393960 | 66954249 | 66954436 | hsa-miR-6881-3p | chr11:66954342-66954349 | 8mer-1a | chr11:66954325-66954350 | 144.00 | -17.22 |
| MSBB | ENST00000393960 | 66954249 | 66954436 | hsa-miR-4517 | chr11:66954288-66954295 | 8mer-1a | chr11:66954286-66954305 | 161.00 | -13.18 |
| MSBB | ENST00000393960 | 66954249 | 66954436 | hsa-miR-3138 | chr11:66954411-66954418 | 8mer-1a | chr11:66954395-66954418 | 161.00 | -27.37 |
| MSBB | ENST00000393960 | 66954249 | 66954436 | hsa-miR-3977 | chr11:66954316-66954323 | 8mer-1a | chr11:66954306-66954328 | 154.00 | -12.83 |
| MSBB | ENST00000393960 | 66954249 | 66954436 | hsa-miR-3147 | chr11:66954273-66954280 | 8mer-1a | chr11:66954271-66954295 | 147.00 | -13.12 |
| MSBB | ENST00000393960 | 66954249 | 66954436 | hsa-miR-3926 | chr11:66954362-66954369 | 8mer-1a | chr11:66954360-66954385 | 168.00 | -25.10 |
| MSBB | ENST00000393960 | 66954249 | 66954436 | hsa-miR-10400-3p | chr11:66954271-66954278 | 8mer-1a | chr11:66954271-66954295 | 147.00 | -13.12 |
| MSBB | ENST00000393960 | 66954249 | 66954436 | hsa-miR-4674 | chr11:66954271-66954278 | 8mer-1a | chr11:66954271-66954295 | 147.00 | -13.12 |
| ROSMAP | ENST00000393960 | 66954249 | 66954436 | hsa-miR-6749-5p | chr11:66954389-66954396 | 8mer-1a | chr11:66954375-66954396 | 172.00 | -35.20 |
| ROSMAP | ENST00000393960 | 66954249 | 66954436 | hsa-miR-9898 | chr11:66954335-66954342 | 8mer-1a | chr11:66954325-66954350 | 144.00 | -17.22 |
| ROSMAP | ENST00000393960 | 66954249 | 66954436 | hsa-miR-3059-5p | chr11:66954343-66954350 | 8mer-1a | chr11:66954343-66954364 | 153.00 | -8.32 |
| ROSMAP | ENST00000393960 | 66954249 | 66954436 | hsa-miR-6881-3p | chr11:66954342-66954349 | 8mer-1a | chr11:66954325-66954350 | 144.00 | -17.22 |
| ROSMAP | ENST00000393960 | 66954249 | 66954436 | hsa-miR-4517 | chr11:66954288-66954295 | 8mer-1a | chr11:66954286-66954305 | 161.00 | -13.18 |
| ROSMAP | ENST00000393960 | 66954249 | 66954436 | hsa-miR-3138 | chr11:66954411-66954418 | 8mer-1a | chr11:66954395-66954418 | 161.00 | -27.37 |
| ROSMAP | ENST00000393960 | 66954249 | 66954436 | hsa-miR-3977 | chr11:66954316-66954323 | 8mer-1a | chr11:66954306-66954328 | 154.00 | -12.83 |
| ROSMAP | ENST00000393960 | 66954249 | 66954436 | hsa-miR-3147 | chr11:66954273-66954280 | 8mer-1a | chr11:66954271-66954295 | 147.00 | -13.12 |
| ROSMAP | ENST00000393960 | 66954249 | 66954436 | hsa-miR-3926 | chr11:66954362-66954369 | 8mer-1a | chr11:66954360-66954385 | 168.00 | -25.10 |
| ROSMAP | ENST00000393960 | 66954249 | 66954436 | hsa-miR-10400-3p | chr11:66954271-66954278 | 8mer-1a | chr11:66954271-66954295 | 147.00 | -13.12 |
| ROSMAP | ENST00000393960 | 66954249 | 66954436 | hsa-miR-4674 | chr11:66954271-66954278 | 8mer-1a | chr11:66954271-66954295 | 147.00 | -13.12 |
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SNVs in the skipped exons for PC |
| - 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 |
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AD stage-associated exon skippint events for PC |
| 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 |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for PC |
| sQTL information located at the skipped exons. |
| Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
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Correlation with RNA binding proteins (RBPs) for PC |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| HCC | MATR3 | exon_skip_136351 | 4.307042e-01 | 1.274856e-13 |
| HCC | TRA2A | exon_skip_136351 | 4.264318e-01 | 2.347967e-13 |
| HCC | HNRNPD | exon_skip_136351 | 4.131495e-01 | 1.485106e-12 |
| HCC | NUP42 | exon_skip_136351 | 4.078132e-01 | 3.046395e-12 |
| IFG | EWSR1 | exon_skip_136351 | 4.105879e-01 | 2.998394e-02 |
| IFG | ESRP2 | exon_skip_136351 | -4.088164e-01 | 3.077097e-02 |
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RelatedDrugs for PC |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
| P11498 | approved|investigational|nutraceutical | DB00121 | Biotin | small molecule | P11498 |
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RelatedDiseases for PC |
| 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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