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:00300104 | Colorectum | CRC | establishment of cell polarity | 40/2078 | 143/18723 | 2.09e-08 | 3.23e-06 | 40 |
GO:00160554 | Colorectum | CRC | Wnt signaling pathway | 88/2078 | 444/18723 | 3.91e-08 | 5.28e-06 | 88 |
GO:01987384 | Colorectum | CRC | cell-cell signaling by wnt | 88/2078 | 446/18723 | 4.85e-08 | 6.04e-06 | 88 |
GO:00301114 | Colorectum | CRC | regulation of Wnt signaling pathway | 68/2078 | 328/18723 | 2.41e-07 | 2.27e-05 | 68 |
GO:00605603 | Colorectum | CRC | developmental growth involved in morphogenesis | 53/2078 | 234/18723 | 2.88e-07 | 2.54e-05 | 53 |
GO:00315324 | Colorectum | CRC | actin cytoskeleton reorganization | 31/2078 | 107/18723 | 3.36e-07 | 2.83e-05 | 31 |
GO:00420605 | Colorectum | CRC | wound healing | 80/2078 | 422/18723 | 1.06e-06 | 6.54e-05 | 80 |
GO:00109754 | Colorectum | CRC | regulation of neuron projection development | 82/2078 | 445/18723 | 2.51e-06 | 1.19e-04 | 82 |
GO:00313464 | Colorectum | CRC | positive regulation of cell projection organization | 67/2078 | 353/18723 | 7.45e-06 | 2.72e-04 | 67 |
GO:00608284 | Colorectum | CRC | regulation of canonical Wnt signaling pathway | 52/2078 | 253/18723 | 7.85e-06 | 2.85e-04 | 52 |
GO:00600704 | Colorectum | CRC | canonical Wnt signaling pathway | 59/2078 | 303/18723 | 1.15e-05 | 3.74e-04 | 59 |
GO:00301773 | Colorectum | CRC | positive regulation of Wnt signaling pathway | 33/2078 | 140/18723 | 2.01e-05 | 5.90e-04 | 33 |
GO:00016552 | Colorectum | CRC | urogenital system development | 62/2078 | 338/18723 | 4.67e-05 | 1.10e-03 | 62 |
GO:00720011 | Colorectum | CRC | renal system development | 56/2078 | 302/18723 | 7.85e-05 | 1.63e-03 | 56 |
GO:00018221 | Colorectum | CRC | kidney development | 54/2078 | 293/18723 | 1.23e-04 | 2.40e-03 | 54 |
GO:00605623 | Colorectum | CRC | epithelial tube morphogenesis | 58/2078 | 325/18723 | 1.74e-04 | 3.10e-03 | 58 |
GO:00902633 | Colorectum | CRC | positive regulation of canonical Wnt signaling pathway | 24/2078 | 106/18723 | 4.89e-04 | 7.00e-03 | 24 |
GO:00351483 | Colorectum | CRC | tube formation | 30/2078 | 148/18723 | 7.75e-04 | 9.87e-03 | 30 |
GO:00219153 | Colorectum | CRC | neural tube development | 30/2078 | 152/18723 | 1.21e-03 | 1.38e-02 | 30 |
GO:00901623 | Colorectum | CRC | establishment of epithelial cell polarity | 10/2078 | 31/18723 | 1.37e-03 | 1.50e-02 | 10 |
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 |