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![]() | Open reading frame (ORF) annotation in the exon skipping event |
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![]() | Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
![]() | Splicing Quantitative Trait Methylation (sQTM) in the skipped exon |
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Gene summary for PTPRC |
Gene summary |
| Gene information | Gene symbol | PTPRC | Gene ID | 5788 |
| Gene name | protein tyrosine phosphatase, receptor type C | |
| Synonyms | B220|CD45|CD45R|GP180|L-CA|LCA|LY5|T200 | |
| Cytomap | 1q31.3-q32.1 | |
| Type of gene | protein-coding | |
| Description | receptor-type tyrosine-protein phosphatase CCD45 antigenT200 glycoproteinT200 leukocyte common antigenprotein tyrosine phosphatase, receptor type, c polypeptide | |
| Modification date | 20180522 | |
| UniProtAcc | P08575 | |
| Context | PubMed: PTPRC [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 |
| PTPRC | GO:0006469 | negative regulation of protein kinase activity | 9197241 |
| PTPRC | GO:0050852 | T cell receptor signaling pathway | 10358156 |
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Exon skipping events across known transcript of Ensembl for PTPRC 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. |
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Gene isoform structures and expression levels for PTPRC |
Expression levels of gene isoforms across TCGA. |
Expression levels of gene isoforms across GTEx. |
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Exon skipping events with PSIs in TCGA for PTPRC |
Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_15182 | 1 | 198661475:198661502:198665840:198666038:198668692:198668749 | 198665840:198666038 | ENSG00000081237.14 | ENST00000352140.3,ENST00000367376.2,ENST00000529828.1,ENST00000442510.2,ENST00000418674.1 |
| exon_skip_15184 | 1 | 198661475:198661502:198668692:198668833:198671515:198671659 | 198668692:198668833 | ENSG00000081237.14 | ENST00000391970.3,ENST00000367367.4 |
| exon_skip_15185 | 1 | 198661475:198661502:198668692:198668833:198672426:198672475 | 198668692:198668833 | ENSG00000081237.14 | ENST00000427110.2,ENST00000530727.1,ENST00000462363.2 |
| exon_skip_15188 | 1 | 198666009:198666038:198668692:198668833:198672426:198672475 | 198668692:198668833 | ENSG00000081237.14 | ENST00000352140.3,ENST00000529828.1 |
| exon_skip_15189 | 1 | 198668692:198668833:198671515:198671659:198672426:198672475 | 198671515:198671659 | ENSG00000081237.14 | ENST00000367376.2,ENST00000442510.2,ENST00000391970.3,ENST00000367367.4 |
| exon_skip_15191 | 1 | 198677261:198677390:198678815:198678953:198682081:198682201 | 198678815:198678953 | ENSG00000081237.14 | ENST00000348564.6,ENST00000352140.3,ENST00000530727.1,ENST00000367376.2,ENST00000594404.1,ENST00000529828.1,ENST00000442510.2,ENST00000367367.4 |
| exon_skip_15194 | 1 | 198717237:198717328:198718544:198718678:198719620:198719755 | 198718544:198718678 | ENSG00000081237.14 | ENST00000348564.6,ENST00000352140.3,ENST00000367376.2,ENST00000594404.1,ENST00000442510.2 |
PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for PTPRC |
Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_15182 | 1 | 198661475:198661502:198665840:198666038:198668692:198668749 | 198665840:198666038 | ENSG00000081237.14 | ENST00000367376.2,ENST00000352140.3,ENST00000442510.2,ENST00000529828.1,ENST00000418674.1 |
| exon_skip_15184 | 1 | 198661475:198661502:198668692:198668833:198671515:198671659 | 198668692:198668833 | ENSG00000081237.14 | ENST00000367367.4,ENST00000391970.3 |
| exon_skip_15185 | 1 | 198661475:198661502:198668692:198668833:198672426:198672475 | 198668692:198668833 | ENSG00000081237.14 | ENST00000530727.1,ENST00000462363.2,ENST00000427110.2 |
| exon_skip_15188 | 1 | 198666009:198666038:198668692:198668833:198672426:198672475 | 198668692:198668833 | ENSG00000081237.14 | ENST00000352140.3,ENST00000529828.1 |
| exon_skip_15189 | 1 | 198668692:198668833:198671515:198671659:198672426:198672475 | 198671515:198671659 | ENSG00000081237.14 | ENST00000367376.2,ENST00000442510.2,ENST00000367367.4,ENST00000391970.3 |
| exon_skip_15191 | 1 | 198677261:198677390:198678815:198678953:198682081:198682201 | 198678815:198678953 | ENSG00000081237.14 | ENST00000367376.2,ENST00000352140.3,ENST00000594404.1,ENST00000530727.1,ENST00000442510.2,ENST00000367367.4,ENST00000348564.6,ENST00000529828.1 |
| exon_skip_15194 | 1 | 198717237:198717328:198718544:198718678:198719620:198719755 | 198718544:198718678 | ENSG00000081237.14 | ENST00000367376.2,ENST00000352140.3,ENST00000594404.1,ENST00000442510.2,ENST00000348564.6 |
PSI values of skipped exons in GTEx. |
| * Skipped exon sequences. |
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Open reading frame (ORF) annotation in the exon skipping event for PTPRC |
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 |
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 |
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Infer the effects of exon skipping event on protein functional features for PTPRC |
Exon skipping at the protein sequence level and followed lost functional features.* Click on the image to enlarge it in a new window. |
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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 |
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 |
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 |
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SNVs in the skipped exons for PTPRC |
- 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-A1EG-01 | exon_skip_15182 | 198665841 | 198666038 | 198665937 | 198665937 | Frame_Shift_Del | A | - | p.E64fs |
| LUAD | TCGA-50-5942-01 | exon_skip_15185 exon_skip_15184 exon_skip_15188 | 198668693 | 198668833 | 198668699 | 198668699 | Frame_Shift_Del | C | - | p.S100fs |
| LUAD | TCGA-50-5942-01 | exon_skip_15185 exon_skip_15184 exon_skip_15188 | 198668693 | 198668833 | 198668699 | 198668699 | Frame_Shift_Del | C | - | p.S101fs |
| CESC | TCGA-C5-A1MQ-01 | exon_skip_15185 exon_skip_15184 exon_skip_15188 | 198668693 | 198668833 | 198668775 | 198668790 | Frame_Shift_Del | CAGCGGCTCCGCCGCC | - | p.FSGSAA125fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_15185 exon_skip_15184 exon_skip_15188 | 198668693 | 198668833 | 198668796 | 198668796 | Frame_Shift_Del | A | - | p.A132fs |
| KIRP | TCGA-G7-6789-01 | exon_skip_15191 | 198678816 | 198678953 | 198678927 | 198678927 | Frame_Shift_Del | G | - | p.S380fs |
| KIRP | TCGA-G7-6789-01 | exon_skip_15191 | 198678816 | 198678953 | 198678927 | 198678927 | Frame_Shift_Del | G | - | p.S382fs |
| UCEC | TCGA-D1-A103-01 | exon_skip_15182 | 198665841 | 198666038 | 198665930 | 198665930 | Nonsense_Mutation | G | T | p.E62* |
| LUAD | TCGA-75-5126-01 | exon_skip_15185 exon_skip_15184 exon_skip_15188 | 198668693 | 198668833 | 198668740 | 198668740 | Nonsense_Mutation | C | T | p.Q114* |
| LUAD | TCGA-17-Z037-01 | exon_skip_15185 exon_skip_15184 exon_skip_15188 | 198668693 | 198668833 | 198668831 | 198668831 | Nonsense_Mutation | C | A | p.S144* |
| HNSC | TCGA-CV-7263-01 | exon_skip_15182 | 198665841 | 198666038 | 198665840 | 198665840 | Splice_Site | G | A | p.G32_splice |
| SKCM | TCGA-EE-A3JA-06 | exon_skip_15182 | 198665841 | 198666038 | 198665840 | 198665840 | Splice_Site | G | A | . |
- Depth of coverage in the three exons composing exon skipping event |
- 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 |
| NCIH2342_LUNG | 198668693 | 198668833 | 198668790 | 198668791 | Frame_Shift_Ins | - | A | p.N131fs |
| A431_SKIN | 198665841 | 198666038 | 198665925 | 198665925 | Missense_Mutation | C | T | p.T60I |
| HCC2998_LARGE_INTESTINE | 198665841 | 198666038 | 198665947 | 198665947 | Missense_Mutation | C | A | p.F67L |
| HCC1143_BREAST | 198665841 | 198666038 | 198665961 | 198665961 | Missense_Mutation | C | G | p.T72S |
| NCIH1869_LUNG | 198665841 | 198666038 | 198665964 | 198665964 | Missense_Mutation | C | G | p.S73C |
| SCC15_UPPER_AERODIGESTIVE_TRACT | 198665841 | 198666038 | 198665964 | 198665964 | Missense_Mutation | C | G | p.S73C |
| LOXIMVI_SKIN | 198665841 | 198666038 | 198665993 | 198665993 | Missense_Mutation | G | A | p.V83I |
| SARC9371_BONE | 198668693 | 198668833 | 198668717 | 198668717 | Missense_Mutation | A | T | p.H106L |
| CORL24_LUNG | 198668693 | 198668833 | 198668719 | 198668719 | Missense_Mutation | C | G | p.L107V |
| HS611T_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 198668693 | 198668833 | 198668731 | 198668731 | Missense_Mutation | G | T | p.A111S |
| COLO678_LARGE_INTESTINE | 198668693 | 198668833 | 198668785 | 198668785 | Missense_Mutation | G | C | p.A129P |
| HCT15_LARGE_INTESTINE | 198668693 | 198668833 | 198668785 | 198668785 | Missense_Mutation | G | C | p.A129P |
| LOVO_LARGE_INTESTINE | 198668693 | 198668833 | 198668785 | 198668785 | Missense_Mutation | G | C | p.A129P |
| LS1034_LARGE_INTESTINE | 198668693 | 198668833 | 198668785 | 198668785 | Missense_Mutation | G | C | p.A129P |
| NCIH2052_PLEURA | 198668693 | 198668833 | 198668785 | 198668785 | Missense_Mutation | G | C | p.A129P |
| MN60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 198668693 | 198668833 | 198668806 | 198668806 | Missense_Mutation | C | T | p.P136S |
| HEC151_ENDOMETRIUM | 198668693 | 198668833 | 198668824 | 198668824 | Missense_Mutation | G | A | p.A142T |
| C33A_CERVIX | 198671516 | 198671659 | 198671539 | 198671539 | Missense_Mutation | G | A | p.A153T |
| SNU1040_LARGE_INTESTINE | 198671516 | 198671659 | 198671624 | 198671624 | Missense_Mutation | G | A | p.R181H |
| SNUC1_LARGE_INTESTINE | 198671516 | 198671659 | 198671648 | 198671648 | Missense_Mutation | C | G | p.A189G |
| GP5D_LARGE_INTESTINE | 198678816 | 198678953 | 198678827 | 198678827 | Missense_Mutation | T | A | p.F347I |
| SNUC1_LARGE_INTESTINE | 198678816 | 198678953 | 198678879 | 198678879 | Missense_Mutation | A | C | p.K364T |
| HUH28_BILIARY_TRACT | 198678816 | 198678953 | 198678897 | 198678897 | Missense_Mutation | T | G | p.L370R |
| LK2_LUNG | 198678816 | 198678953 | 198678923 | 198678923 | Missense_Mutation | G | A | p.A379T |
| SNU81_LARGE_INTESTINE | 198678816 | 198678953 | 198678933 | 198678933 | Missense_Mutation | T | G | p.I382S |
| LAN6_AUTONOMIC_GANGLIA | 198678816 | 198678953 | 198678950 | 198678950 | Missense_Mutation | G | T | p.G388W |
| DV90_LUNG | 198718545 | 198718678 | 198718580 | 198718580 | Missense_Mutation | G | A | p.E990K |
| HEC251_ENDOMETRIUM | 198718545 | 198718678 | 198718668 | 198718668 | Missense_Mutation | C | A | p.S1019Y |
| HCC2450_LUNG | 198671516 | 198671659 | 198671657 | 198671657 | Nonsense_Mutation | C | G | p.S192* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for PTPRC |
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 |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for PTPRC |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for PTPRC |
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RelatedDrugs for PTPRC |
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 |
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RelatedDiseases for PTPRC |
Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| PTPRC | C0003873 | Rheumatoid Arthritis | 2 | CTD_human |
| PTPRC | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
| PTPRC | C0033975 | Psychotic Disorders | 1 | PSYGENET |
| PTPRC | C0035309 | Retinal Diseases | 1 | CTD_human |
| PTPRC | C0349204 | Nonorganic psychosis | 1 | PSYGENET |