GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:0060828 | Colorectum | AD | regulation of canonical Wnt signaling pathway | 77/3918 | 253/18723 | 2.19e-04 | 2.87e-03 | 77 |
GO:0050878 | Colorectum | AD | regulation of body fluid levels | 108/3918 | 379/18723 | 2.54e-04 | 3.20e-03 | 108 |
GO:0006469 | Colorectum | AD | negative regulation of protein kinase activity | 65/3918 | 212/18723 | 5.21e-04 | 5.62e-03 | 65 |
GO:0033673 | Colorectum | AD | negative regulation of kinase activity | 71/3918 | 237/18723 | 6.18e-04 | 6.47e-03 | 71 |
GO:0031345 | Colorectum | AD | negative regulation of cell projection organization | 58/3918 | 186/18723 | 6.37e-04 | 6.58e-03 | 58 |
GO:0030032 | Colorectum | AD | lamellipodium assembly | 26/3918 | 72/18723 | 2.12e-03 | 1.68e-02 | 26 |
GO:0010977 | Colorectum | AD | negative regulation of neuron projection development | 43/3918 | 137/18723 | 2.60e-03 | 1.97e-02 | 43 |
GO:0061318 | Colorectum | AD | renal filtration cell differentiation | 10/3918 | 20/18723 | 3.67e-03 | 2.60e-02 | 10 |
GO:0072112 | Colorectum | AD | glomerular visceral epithelial cell differentiation | 10/3918 | 20/18723 | 3.67e-03 | 2.60e-02 | 10 |
GO:0072073 | Colorectum | AD | kidney epithelium development | 42/3918 | 136/18723 | 4.02e-03 | 2.80e-02 | 42 |
GO:0050808 | Colorectum | AD | synapse organization | 112/3918 | 426/18723 | 4.25e-03 | 2.92e-02 | 112 |
GO:0003014 | Colorectum | AD | renal system process | 35/3918 | 110/18723 | 4.85e-03 | 3.27e-02 | 35 |
GO:0007411 | Colorectum | AD | axon guidance | 64/3918 | 227/18723 | 5.41e-03 | 3.55e-02 | 64 |
GO:0050807 | Colorectum | AD | regulation of synapse organization | 60/3918 | 211/18723 | 5.67e-03 | 3.64e-02 | 60 |
GO:0072311 | Colorectum | AD | glomerular epithelial cell differentiation | 10/3918 | 21/18723 | 5.71e-03 | 3.64e-02 | 10 |
GO:0097485 | Colorectum | AD | neuron projection guidance | 64/3918 | 228/18723 | 6.02e-03 | 3.78e-02 | 64 |
GO:00452161 | Colorectum | SER | cell-cell junction organization | 63/2897 | 200/18723 | 9.15e-09 | 7.80e-07 | 63 |
GO:00108101 | Colorectum | SER | regulation of cell-substrate adhesion | 64/2897 | 221/18723 | 2.34e-07 | 1.29e-05 | 64 |
GO:00070431 | Colorectum | SER | cell-cell junction assembly | 45/2897 | 146/18723 | 2.23e-06 | 9.31e-05 | 45 |
GO:00343291 | Colorectum | SER | cell junction assembly | 100/2897 | 420/18723 | 4.23e-06 | 1.61e-04 | 100 |
Hugo Symbol | Variant Class | Variant Classification | dbSNP RS | HGVSc | HGVSp | HGVSp Short | SWISSPROT | BIOTYPE | SIFT | PolyPhen | Tumor Sample Barcode | Tissue | Histology | Sex | Age | Stage | Therapy Types | Drugs | Outcome |
PTPRO | SNV | Missense_Mutation | | c.295N>C | p.Val99Leu | p.V99L | Q16827 | protein_coding | tolerated_low_confidence(0.22) | benign(0.005) | TCGA-A2-A04P-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | taxol | PD |
PTPRO | SNV | Missense_Mutation | rs761583283 | c.128C>T | p.Ser43Leu | p.S43L | Q16827 | protein_coding | deleterious_low_confidence(0) | possibly_damaging(0.456) | TCGA-AC-A23C-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | chemo | CR |
PTPRO | SNV | Missense_Mutation | novel | c.2467N>C | p.Ile823Leu | p.I823L | Q16827 | protein_coding | deleterious(0.01) | benign(0.13) | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
PTPRO | SNV | Missense_Mutation | | c.1798C>A | p.Pro600Thr | p.P600T | Q16827 | protein_coding | deleterious(0) | probably_damaging(0.96) | TCGA-AR-A1AH-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unspecific | | PD |
PTPRO | SNV | Missense_Mutation | | c.1810N>C | p.Tyr604His | p.Y604H | Q16827 | protein_coding | deleterious(0.03) | possibly_damaging(0.853) | TCGA-B6-A0I6-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | PD |
PTPRO | SNV | Missense_Mutation | | c.1444N>C | p.Glu482Gln | p.E482Q | Q16827 | protein_coding | deleterious(0) | probably_damaging(0.996) | TCGA-LD-A74U-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Chemotherapy | taxotere | SD |
PTPRO | insertion | In_Frame_Ins | novel | c.1004_1005insGTTCATGGAAGAGGTGATAATGGAACTGCTATTTGAAGAACAAGT | p.Ser335_Gly336insPheMetGluGluValIleMetGluLeuLeuPheGluGluGlnVal | p.S335_G336insFMEEVIMELLFEEQV | Q16827 | protein_coding | | | TCGA-BH-A0B8-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | arimidex | SD |
PTPRO | SNV | Missense_Mutation | rs763453061 | c.214N>C | p.Glu72Gln | p.E72Q | Q16827 | protein_coding | tolerated_low_confidence(0.24) | benign(0.01) | TCGA-EK-A3GK-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
PTPRO | SNV | Missense_Mutation | rs724159880 | c.1444N>A | p.Glu482Lys | p.E482K | Q16827 | protein_coding | deleterious(0) | probably_damaging(0.984) | TCGA-EK-A3GK-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
PTPRO | SNV | Missense_Mutation | | c.2730G>T | p.Lys910Asn | p.K910N | Q16827 | protein_coding | deleterious(0) | probably_damaging(0.997) | TCGA-FU-A3HZ-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |