Tissue | Expression Dynamics | Abbreviation |
Colorectum (GSE201348) | | FAP: Familial adenomatous polyposis |
CRC: Colorectal cancer |
Colorectum (HTA11) | | AD: Adenomas |
SER: Sessile serrated lesions |
MSI-H: Microsatellite-high colorectal cancer |
MSS: Microsatellite stable colorectal cancer |
Esophagus | | ESCC: Esophageal squamous cell carcinoma |
HGIN: High-grade intraepithelial neoplasias |
LGIN: Low-grade intraepithelial neoplasias |
Lung | | AAH: Atypical adenomatous hyperplasia |
AIS: Adenocarcinoma in situ |
IAC: Invasive lung adenocarcinoma |
MIA: Minimally invasive adenocarcinoma |
Oral Cavity | | EOLP: Erosive Oral lichen planus |
LP: leukoplakia |
NEOLP: Non-erosive oral lichen planus |
OSCC: Oral squamous cell carcinoma |
Skin | | AK: Actinic keratosis |
cSCC: Cutaneous squamous cell carcinoma |
SCCIS:squamous cell carcinoma in situ |
Thyroid | | ATC: Anaplastic thyroid cancer |
HT: Hashimoto's thyroiditis |
PTC: Papillary thyroid cancer |
GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:0007163 | Colorectum | AD | establishment or maintenance of cell polarity | 77/3918 | 218/18723 | 5.72e-07 | 2.08e-05 | 77 |
GO:0042060 | Colorectum | AD | wound healing | 128/3918 | 422/18723 | 2.73e-06 | 7.89e-05 | 128 |
GO:0030111 | Colorectum | AD | regulation of Wnt signaling pathway | 102/3918 | 328/18723 | 8.51e-06 | 2.03e-04 | 102 |
GO:0016055 | Colorectum | AD | Wnt signaling pathway | 130/3918 | 444/18723 | 1.60e-05 | 3.37e-04 | 130 |
GO:0198738 | Colorectum | AD | cell-cell signaling by wnt | 130/3918 | 446/18723 | 2.02e-05 | 4.10e-04 | 130 |
GO:0031532 | Colorectum | AD | actin cytoskeleton reorganization | 41/3918 | 107/18723 | 2.81e-05 | 5.28e-04 | 41 |
GO:0010975 | Colorectum | AD | regulation of neuron projection development | 129/3918 | 445/18723 | 2.88e-05 | 5.37e-04 | 129 |
GO:0030010 | Colorectum | AD | establishment of cell polarity | 50/3918 | 143/18723 | 6.90e-05 | 1.11e-03 | 50 |
GO:0031346 | Colorectum | AD | positive regulation of cell projection organization | 104/3918 | 353/18723 | 8.26e-05 | 1.30e-03 | 104 |
GO:0060070 | Colorectum | AD | canonical Wnt signaling pathway | 90/3918 | 303/18723 | 1.76e-04 | 2.38e-03 | 90 |
GO:0060828 | Colorectum | AD | regulation of canonical Wnt signaling pathway | 77/3918 | 253/18723 | 2.19e-04 | 2.87e-03 | 77 |
GO:0045197 | Colorectum | AD | establishment or maintenance of epithelial cell apical/basal polarity | 20/3918 | 44/18723 | 2.26e-04 | 2.94e-03 | 20 |
GO:0035088 | Colorectum | AD | establishment or maintenance of apical/basal cell polarity | 21/3918 | 49/18723 | 4.31e-04 | 4.82e-03 | 21 |
GO:0061245 | Colorectum | AD | establishment or maintenance of bipolar cell polarity | 21/3918 | 49/18723 | 4.31e-04 | 4.82e-03 | 21 |
GO:0060562 | Colorectum | AD | epithelial tube morphogenesis | 93/3918 | 325/18723 | 5.65e-04 | 6.00e-03 | 93 |
GO:0014020 | Colorectum | AD | primary neural tube formation | 33/3918 | 94/18723 | 1.02e-03 | 9.50e-03 | 33 |
GO:0001841 | Colorectum | AD | neural tube formation | 35/3918 | 102/18723 | 1.16e-03 | 1.05e-02 | 35 |
GO:0030177 | Colorectum | AD | positive regulation of Wnt signaling pathway | 45/3918 | 140/18723 | 1.23e-03 | 1.09e-02 | 45 |
GO:0001843 | Colorectum | AD | neural tube closure | 30/3918 | 88/18723 | 2.83e-03 | 2.12e-02 | 30 |
GO:0060606 | Colorectum | AD | tube closure | 30/3918 | 89/18723 | 3.42e-03 | 2.49e-02 | 30 |
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 |
PTK7 | SNV | Missense_Mutation | | c.1028C>A | p.Ala343Asp | p.A343D | Q13308 | protein_coding | deleterious(0.01) | possibly_damaging(0.471) | TCGA-A2-A0D2-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | SD |
PTK7 | SNV | Missense_Mutation | novel | c.2262N>A | p.Met754Ile | p.M754I | Q13308 | protein_coding | deleterious(0.04) | benign(0.067) | TCGA-A7-A6VX-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | docetaxel | CR |
PTK7 | SNV | Missense_Mutation | | c.2124G>T | p.Lys708Asn | p.K708N | Q13308 | protein_coding | deleterious(0.04) | benign(0.082) | TCGA-A8-A0A9-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | anastrozole | SD |
PTK7 | SNV | Missense_Mutation | rs374956441 | c.493C>T | p.Arg165Trp | p.R165W | Q13308 | protein_coding | deleterious(0) | probably_damaging(0.983) | TCGA-AC-A23H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
PTK7 | SNV | Missense_Mutation | novel | c.2578N>C | p.Lys860Gln | p.K860Q | Q13308 | protein_coding | deleterious(0) | possibly_damaging(0.734) | TCGA-B6-A0IN-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | PD |
PTK7 | SNV | Missense_Mutation | | c.2317G>A | p.Glu773Lys | p.E773K | Q13308 | protein_coding | deleterious(0.03) | benign(0.119) | TCGA-D8-A1JN-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Hormone Therapy | anastrozolum | SD |
PTK7 | SNV | Missense_Mutation | novel | c.1769N>T | p.Ala590Val | p.A590V | Q13308 | protein_coding | deleterious(0.01) | possibly_damaging(0.475) | TCGA-E9-A228-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | SD |
PTK7 | SNV | Missense_Mutation | rs767634504 | c.581N>T | p.Thr194Met | p.T194M | Q13308 | protein_coding | deleterious(0.03) | benign(0.104) | TCGA-S3-AA14-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | CR |
PTK7 | insertion | In_Frame_Ins | novel | c.2208_2209insGATCTGGGCCCAAACAGAGTCCGGTTTGGCAGACGTGGAATGTCA | p.Lys736_Arg737insAspLeuGlyProAsnArgValArgPheGlyArgArgGlyMetSer | p.K736_R737insDLGPNRVRFGRRGMS | Q13308 | protein_coding | | | TCGA-AO-A0J9-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | cyclophosphamide | PD |
PTK7 | insertion | Frame_Shift_Ins | novel | c.2577_2578insCTTCC | p.Lys860LeufsTer4 | p.K860Lfs*4 | Q13308 | protein_coding | | | TCGA-B6-A0IN-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | PD |