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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 PTPN11 |
 Gene summary |
| Gene information | Gene symbol | PTPN11 | Gene ID | 5781 |
| Gene name | protein tyrosine phosphatase, non-receptor type 11 | |
| Synonyms | BPTP3|CFC|JMML|METCDS|NS1|PTP-1D|PTP2C|SH-PTP2|SH-PTP3|SHP2 | |
| Cytomap | 12q24.13 | |
| Type of gene | protein-coding | |
| Description | tyrosine-protein phosphatase non-receptor type 11PTP-2Cprotein-tyrosine phosphatase 1Dprotein-tyrosine phosphatase 2C | |
| Modification date | 20180527 | |
| UniProtAcc | Q06124 | |
| Context | PubMed: PTPN11 [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 |
| PTPN11 | GO:0035335 | peptidyl-tyrosine dephosphorylation | 15133037 |
| PTPN11 | GO:0038127 | ERBB signaling pathway | 15133037 |
| PTPN11 | GO:0043254 | regulation of protein complex assembly | 7493946 |
| PTPN11 | GO:0048013 | ephrin receptor signaling pathway | 10655584 |
| PTPN11 | GO:2001275 | positive regulation of glucose import in response to insulin stimulus | 7493946 |
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Exon skipping events across known transcript of Ensembl for PTPN11 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 PTPN11 |
| 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 PTPN11 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_87208 | 12 | 112856717:112856929:112884079:112884202:112888121:112888316 | 112884079:112884202 | ENSG00000179295.11 | ENST00000351677.2,ENST00000392597.1 |
| exon_skip_87210 | 12 | 112884079:112884202:112888121:112888316:112890998:112891191 | 112888121:112888316 | ENSG00000179295.11 | ENST00000351677.2,ENST00000392597.1 |
| exon_skip_87212 | 12 | 112888124:112888316:112890998:112891191:112892367:112892484 | 112890998:112891191 | ENSG00000179295.11 | ENST00000351677.2,ENST00000392597.1 |
| exon_skip_87213 | 12 | 112892367:112892484:112893753:112893867:112910747:112910844 | 112893753:112893867 | ENSG00000179295.11 | ENST00000351677.2,ENST00000392597.1 |
| exon_skip_87216 | 12 | 112919877:112920009:112924278:112924433:112926246:112926314 | 112924278:112924433 | ENSG00000179295.11 | ENST00000351677.2 |
| exon_skip_87217 | 12 | 112926827:112926979:112939947:112940060:112942498:112942600 | 112939947:112940060 | ENSG00000179295.11 | ENST00000351677.2 |
| exon_skip_87220 | 12 | 112939947:112940060:112942498:112942600:112943628:112947717 | 112942498:112942600 | ENSG00000179295.11 | ENST00000351677.2 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for PTPN11 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_87208 | 12 | 112856717:112856929:112884079:112884202:112888121:112888316 | 112884079:112884202 | ENSG00000179295.11 | ENST00000392597.1,ENST00000351677.2 |
| exon_skip_87210 | 12 | 112884079:112884202:112888121:112888316:112890998:112891191 | 112888121:112888316 | ENSG00000179295.11 | ENST00000392597.1,ENST00000351677.2 |
| exon_skip_87212 | 12 | 112888124:112888316:112890998:112891191:112892367:112892484 | 112890998:112891191 | ENSG00000179295.11 | ENST00000392597.1,ENST00000351677.2 |
| exon_skip_87213 | 12 | 112892367:112892484:112893753:112893867:112910747:112910844 | 112893753:112893867 | ENSG00000179295.11 | ENST00000392597.1,ENST00000351677.2 |
| exon_skip_87216 | 12 | 112919877:112920009:112924278:112924433:112926246:112926314 | 112924278:112924433 | ENSG00000179295.11 | ENST00000351677.2 |
| exon_skip_87217 | 12 | 112926827:112926979:112939947:112940060:112942498:112942600 | 112939947:112940060 | ENSG00000179295.11 | ENST00000351677.2 |
| exon_skip_87220 | 12 | 112939947:112940060:112942498:112942600:112943628:112947717 | 112942498:112942600 | ENSG00000179295.11 | ENST00000351677.2 |
| 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 PTPN11 |
| 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 PTPN11 |
| 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 PTPN11 |
| - 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-A3A1-01 | exon_skip_87212 | 112890999 | 112891191 | 112891112 | 112891112 | Frame_Shift_Del | T | - | p.L149fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_87213 | 112893754 | 112893867 | 112893850 | 112893850 | Frame_Shift_Del | T | - | p.F247fs |
| LUSC | TCGA-46-6025-01 | exon_skip_87213 | 112893754 | 112893867 | 112893784 | 112893784 | Nonsense_Mutation | G | T | p.E225* |
| - 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 |
| OVK18_OVARY | 112884080 | 112884202 | 112884149 | 112884149 | Frame_Shift_Del | T | - | p.S28fs |
| VMCUB1_URINARY_TRACT | 112884080 | 112884202 | 112884098 | 112884098 | Missense_Mutation | C | G | p.I11M |
| HCC1171_LUNG | 112884080 | 112884202 | 112884198 | 112884198 | Missense_Mutation | G | C | p.V45L |
| ZR7530_BREAST | 112888122 | 112888316 | 112888124 | 112888124 | Missense_Mutation | G | A | p.R47K |
| HCC2998_LARGE_INTESTINE | 112888122 | 112888316 | 112888145 | 112888145 | Missense_Mutation | T | C | p.I54T |
| NCIH661_LUNG | 112888122 | 112888316 | 112888157 | 112888157 | Missense_Mutation | A | G | p.N58S |
| U937_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 112888122 | 112888316 | 112888162 | 112888162 | Missense_Mutation | G | C | p.G60R |
| TUR_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 112888122 | 112888316 | 112888162 | 112888162 | Missense_Mutation | G | C | p.G60R |
| IGROV1_OVARY | 112888122 | 112888316 | 112888168 | 112888168 | Missense_Mutation | T | C | p.Y62H |
| LN229_CENTRAL_NERVOUS_SYSTEM | 112888122 | 112888316 | 112888198 | 112888198 | Missense_Mutation | G | T | p.A72S |
| GDM1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 112888122 | 112888316 | 112888198 | 112888198 | Missense_Mutation | G | T | p.A72S |
| TC106_BONE | 112888122 | 112888316 | 112888199 | 112888199 | Missense_Mutation | C | A | p.A72D |
| HNT34_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 112888122 | 112888316 | 112888199 | 112888199 | Missense_Mutation | C | T | p.A72V |
| NCIH211_LUNG | 112888122 | 112888316 | 112888211 | 112888211 | Missense_Mutation | A | G | p.E76G |
| SN12C_KIDNEY | 112888122 | 112888316 | 112888300 | 112888300 | Missense_Mutation | G | T | p.D106Y |
| MFE296_ENDOMETRIUM | 112890999 | 112891191 | 112891091 | 112891091 | Missense_Mutation | G | A | p.S142N |
| DBTRG05MG_CENTRAL_NERVOUS_SYSTEM | 112890999 | 112891191 | 112891181 | 112891181 | Missense_Mutation | T | C | p.I172T |
| VMCUB1_URINARY_TRACT | 112942499 | 112942600 | 112942519 | 112942519 | Missense_Mutation | G | C | p.R578T |
| COLO680N_OESOPHAGUS | 112942499 | 112942600 | 112942533 | 112942533 | Missense_Mutation | G | A | p.V583M |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for PTPN11 |
| 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 PTPN11 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for PTPN11 |
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RelatedDrugs for PTPN11 |
| 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 PTPN11 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| PTPN11 | C0028326 | Noonan Syndrome | 24 | CTD_human;ORPHANET;UNIPROT |
| PTPN11 | C0175704 | LEOPARD Syndrome | 10 | CTD_human;ORPHANET;UNIPROT |
| PTPN11 | C0349639 | Juvenile Myelomonocytic Leukemia | 4 | CTD_human;HPO;ORPHANET;UNIPROT |
| PTPN11 | C0014084 | Enchondromatosis | 2 | CTD_human;HPO |
| PTPN11 | C0001418 | Adenocarcinoma | 1 | CTD_human |
| PTPN11 | C0004114 | Astrocytoma | 1 | CTD_human |
| PTPN11 | C0007137 | Squamous cell carcinoma | 1 | CTD_human |
| PTPN11 | C0015306 | Hereditary Multiple Exostoses | 1 | CTD_human |
| PTPN11 | C0023418 | leukemia | 1 | CTD_human |
| PTPN11 | C0027819 | Neuroblastoma | 1 | CTD_human |
| PTPN11 | C0029423 | Cartilaginous exostosis | 1 | CTD_human |
| PTPN11 | C0587248 | Costello syndrome (disorder) | 1 | CTD_human |
| PTPN11 | C1275081 | Cardio-facio-cutaneous syndrome | 1 | CTD_human |
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