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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 PTPRQ |
 Gene summary |
| Gene information | Gene symbol | PTPRQ | Gene ID | 374462 |
| Gene name | protein tyrosine phosphatase, receptor type Q | |
| Synonyms | DFNA73|DFNB84|DFNB84A|PTPGMC1|R-PTP-Q | |
| Cytomap | 12q21.31 | |
| Type of gene | protein-coding | |
| Description | phosphatidylinositol phosphatase PTPRQphosphotidylinositol phosphatase PTPRQprotein-tyrosine phosphatase, receptor-type, expressed by glomerular mesangial cells | |
| Modification date | 20180519 | |
| UniProtAcc | Q9UMZ3 | |
| Context | PubMed: PTPRQ [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 |
| PTPRQ | GO:0045598 | regulation of fat cell differentiation | 19351528 |
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Exon skipping events across known transcript of Ensembl for PTPRQ 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 PTPRQ |
| Expression levels of gene isoforms across TCGA. |
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| Expression levels of gene isoforms across GTEx. |
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Exon skipping events with PSIs in TCGA for PTPRQ |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_85633 | 12 | 80816423:80816554:80816724:80816928:80818217:80818368 | 80816724:80816928 | ENSG00000139304.8 | ENST00000551042.1 |
| exon_skip_85635 | 12 | 80821236:80821331:80828715:80828881:80837531:80837692 | 80828715:80828881 | ENSG00000139304.8 | ENST00000551573.1,ENST00000551042.1 |
| exon_skip_85636 | 12 | 80828715:80828881:80829904:80830162:80837531:80837692 | 80829904:80830162 | ENSG00000139304.8 | ENST00000547376.1 |
| exon_skip_85637 | 12 | 80933554:80933723:80935333:80935624:80935867:80936143 | 80935333:80935624 | ENSG00000139304.8 | ENST00000266688.5 |
| exon_skip_85641 | 12 | 80935333:80935624:80935867:80936143:80936508:80936660 | 80935867:80936143 | ENSG00000139304.8 | ENST00000266688.5 |
| exon_skip_85642 | 12 | 80940334:80940476:80943243:80943513:80981907:80982231 | 80943243:80943513 | ENSG00000139304.8 | ENST00000266688.5 |
| exon_skip_85643 | 12 | 81013932:81014155:81015839:81015913:81025970:81026070 | 81015839:81015913 | ENSG00000139304.8 | ENST00000266688.5 |
| exon_skip_85647 | 12 | 81028723:81028852:81042675:81042702:81043366:81043448 | 81042675:81042702 | ENSG00000139304.8 | ENST00000266688.5 |
| exon_skip_85649 | 12 | 81062785:81062920:81063117:81063243:81064122:81064271 | 81063117:81063243 | ENSG00000139304.8 | ENST00000266688.5 |
| exon_skip_85651 | 12 | 81064122:81064271:81066947:81067083:81072380:81072504 | 81066947:81067083 | ENSG00000139304.8 | ENST00000266688.5 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for PTPRQ |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_85633 | 12 | 80816423:80816554:80816724:80816928:80818217:80818368 | 80816724:80816928 | ENSG00000139304.8 | ENST00000551042.1 |
| exon_skip_85634 | 12 | 80816724:80816928:80817476:80817613:80818217:80818368 | 80817476:80817613 | ENSG00000139304.8 | ENST00000547376.1 |
| exon_skip_85635 | 12 | 80821236:80821331:80828715:80828881:80837531:80837692 | 80828715:80828881 | ENSG00000139304.8 | ENST00000551042.1,ENST00000551573.1 |
| exon_skip_85636 | 12 | 80828715:80828881:80829904:80830162:80837531:80837692 | 80829904:80830162 | ENSG00000139304.8 | ENST00000547376.1 |
| exon_skip_85637 | 12 | 80933554:80933723:80935333:80935624:80935867:80936143 | 80935333:80935624 | ENSG00000139304.8 | ENST00000266688.5 |
| exon_skip_85641 | 12 | 80935333:80935624:80935867:80936143:80936508:80936660 | 80935867:80936143 | ENSG00000139304.8 | ENST00000266688.5 |
| exon_skip_85642 | 12 | 80940334:80940476:80943243:80943513:80981907:80982231 | 80943243:80943513 | ENSG00000139304.8 | ENST00000266688.5 |
| exon_skip_85643 | 12 | 81013932:81014155:81015839:81015913:81025970:81026070 | 81015839:81015913 | ENSG00000139304.8 | ENST00000266688.5 |
| exon_skip_85647 | 12 | 81028723:81028852:81042675:81042702:81043366:81043448 | 81042675:81042702 | ENSG00000139304.8 | ENST00000266688.5 |
| exon_skip_85649 | 12 | 81062785:81062920:81063117:81063243:81064122:81064271 | 81063117:81063243 | ENSG00000139304.8 | ENST00000266688.5 |
| exon_skip_85651 | 12 | 81064122:81064271:81066947:81067083:81072380:81072504 | 81066947:81067083 | ENSG00000139304.8 | ENST00000266688.5 |
| PSI values of skipped exons in GTEx. |
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| * Skipped exon sequences. |
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Open reading frame (ORF) annotation in the exon skipping event for PTPRQ |
| 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 PTPRQ |
| 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 PTPRQ |
| - Lollipop plot for presenting exon skipping associated SNVs. * Click on the image to enlarge it in a new window. |
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| - 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_85641 | 80935868 | 80936143 | 80935896 | 80935896 | Frame_Shift_Del | T | - | p.T1154fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_85641 | 80935868 | 80936143 | 80935900 | 80935900 | Frame_Shift_Del | A | - | p.K1156fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_85641 | 80935868 | 80936143 | 80935939 | 80935939 | Frame_Shift_Del | C | - | p.P1170fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_85641 | 80935868 | 80936143 | 80936071 | 80936071 | Frame_Shift_Del | T | - | p.F1214fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_85642 | 80943244 | 80943513 | 80943318 | 80943318 | Frame_Shift_Del | A | - | p.K1361fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_85642 | 80943244 | 80943513 | 80943379 | 80943379 | Frame_Shift_Del | T | - | p.V1380fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_85642 | 80943244 | 80943513 | 80943384 | 80943384 | Frame_Shift_Del | C | - | p.P1382fs |
| COAD | TCGA-DM-A28H-01 | exon_skip_85642 | 80943244 | 80943513 | 80943433 | 80943433 | Frame_Shift_Del | A | - | p.Y1230fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_85643 | 81015840 | 81015913 | 81015894 | 81015894 | Frame_Shift_Del | T | - | p.S1885fs |
| BRCA | TCGA-C8-A12M-01 | exon_skip_85637 | 80935334 | 80935624 | 80935456 | 80935456 | Nonsense_Mutation | C | T | p.Q1093* |
| UCEC | TCGA-D1-A167-01 | exon_skip_85642 | 80943244 | 80943513 | 80943267 | 80943267 | Nonsense_Mutation | C | T | p.Q1347* |
| UCEC | TCGA-D1-A17Q-01 | exon_skip_85651 | 81066948 | 81067083 | 81067061 | 81067061 | Nonsense_Mutation | G | T | p.E2089* |
| LIHC | TCGA-UB-A7MB-01 | exon_skip_85647 | 81042676 | 81042702 | 81042674 | 81042674 | Splice_Site | A | T | . |
| ESCA | TCGA-JY-A93D-01 | exon_skip_85649 | 81063118 | 81063243 | 81063245 | 81063246 | Splice_Site | - | A | e46+2 |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
| - 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 |
| ISHIKAWAHERAKLIO02ER_ENDOMETRIUM | 80935334 | 80935624 | 80935340 | 80935340 | Frame_Shift_Del | A | - | p.E1050fs |
| C33A_CERVIX | 80935334 | 80935624 | 80935348 | 80935348 | Missense_Mutation | G | A | p.V1053I |
| OVK18_OVARY | 80935334 | 80935624 | 80935357 | 80935357 | Missense_Mutation | C | A | p.L1056M |
| MM386_SKIN | 80935334 | 80935624 | 80935376 | 80935376 | Missense_Mutation | C | T | p.S1062L |
| DMS153_LUNG | 80935334 | 80935624 | 80935384 | 80935384 | Missense_Mutation | G | T | p.A1065S |
| HT115_LARGE_INTESTINE | 80935334 | 80935624 | 80935442 | 80935442 | Missense_Mutation | T | G | p.V1084G |
| SNU407_LARGE_INTESTINE | 80935334 | 80935624 | 80935468 | 80935468 | Missense_Mutation | C | T | p.R1093C |
| CASKI_CERVIX | 80935334 | 80935624 | 80935510 | 80935510 | Missense_Mutation | T | C | p.Y1107H |
| MM426_SKIN | 80935334 | 80935624 | 80935525 | 80935525 | Missense_Mutation | G | A | p.E1112K |
| FLO1_OESOPHAGUS | 80935868 | 80936143 | 80935966 | 80935966 | Missense_Mutation | A | C | p.I1178L |
| HCT15_LARGE_INTESTINE | 80943244 | 80943513 | 80943414 | 80943414 | Missense_Mutation | C | A | p.L1392I |
| SNU475_LIVER | 80943244 | 80943513 | 80943444 | 80943444 | Missense_Mutation | G | A | p.V1402I |
| NCIH1436_LUNG | 80943244 | 80943513 | 80943495 | 80943495 | Missense_Mutation | A | C | p.S1419R |
| HS746T_STOMACH | 81015840 | 81015913 | 81015866 | 81015866 | Missense_Mutation | T | A | p.M1876K |
| HMY1_SKIN | 81042676 | 81042702 | 81042696 | 81042696 | Missense_Mutation | C | T | p.S1975F |
| RPMI8866_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 81063118 | 81063243 | 81063140 | 81063140 | Missense_Mutation | C | G | p.P2113R |
| LS411N_LARGE_INTESTINE | 81063118 | 81063243 | 81063147 | 81063147 | Missense_Mutation | C | G | p.D2115E |
| EN_ENDOMETRIUM | 81063118 | 81063243 | 81063151 | 81063151 | Missense_Mutation | A | G | p.K2117E |
| SNU175_LARGE_INTESTINE | 81063118 | 81063243 | 81063184 | 81063184 | Missense_Mutation | A | G | p.T2128A |
| COLO794_SKIN | 81066948 | 81067083 | 81066962 | 81066962 | Missense_Mutation | G | A | p.R2202K |
| COLO800_SKIN | 81066948 | 81067083 | 81066962 | 81066962 | Missense_Mutation | G | A | p.R2202K |
| SW684_SOFT_TISSUE | 81066948 | 81067083 | 81067015 | 81067015 | Missense_Mutation | G | A | p.D2220N |
| NCIH446_LUNG | 81066948 | 81067083 | 81067021 | 81067021 | Missense_Mutation | G | T | p.V2222L |
| HO1U1_UPPER_AERODIGESTIVE_TRACT | 81066948 | 81067083 | 81067045 | 81067045 | Missense_Mutation | G | A | p.E2230K |
| A172_CENTRAL_NERVOUS_SYSTEM | 81066948 | 81067083 | 81067046 | 81067046 | Missense_Mutation | A | C | p.E2230A |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for PTPRQ |
| 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 PTPRQ |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for PTPRQ |
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RelatedDrugs for PTPRQ |
| 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 PTPRQ |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| PTPRQ | C3150654 | DEAFNESS, AUTOSOMAL RECESSIVE 84A | 1 | CTD_human;UNIPROT |
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