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 |
Liver | | HCC: Hepatocellular carcinoma |
NAFLD: Non-alcoholic fatty liver disease |
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:0010563 | Colorectum | AD | negative regulation of phosphorus metabolic process | 130/3918 | 442/18723 | 1.26e-05 | 2.76e-04 | 130 |
GO:0045936 | Colorectum | AD | negative regulation of phosphate metabolic process | 129/3918 | 441/18723 | 1.81e-05 | 3.76e-04 | 129 |
GO:0051348 | Colorectum | AD | negative regulation of transferase activity | 85/3918 | 268/18723 | 2.07e-05 | 4.19e-04 | 85 |
GO:0042326 | Colorectum | AD | negative regulation of phosphorylation | 112/3918 | 385/18723 | 8.02e-05 | 1.27e-03 | 112 |
GO:0001933 | Colorectum | AD | negative regulation of protein phosphorylation | 101/3918 | 342/18723 | 9.39e-05 | 1.42e-03 | 101 |
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:0051651 | Colorectum | AD | maintenance of location in cell | 61/3918 | 214/18723 | 5.02e-03 | 3.37e-02 | 61 |
GO:0061099 | Colorectum | AD | negative regulation of protein tyrosine kinase activity | 13/3918 | 31/18723 | 6.53e-03 | 4.06e-02 | 13 |
GO:00513482 | Colorectum | MSS | negative regulation of transferase activity | 80/3467 | 268/18723 | 4.06e-06 | 1.17e-04 | 80 |
GO:00105632 | Colorectum | MSS | negative regulation of phosphorus metabolic process | 118/3467 | 442/18723 | 1.18e-05 | 2.77e-04 | 118 |
GO:00459362 | Colorectum | MSS | negative regulation of phosphate metabolic process | 117/3467 | 441/18723 | 1.74e-05 | 3.84e-04 | 117 |
GO:00423262 | Colorectum | MSS | negative regulation of phosphorylation | 103/3467 | 385/18723 | 3.76e-05 | 7.17e-04 | 103 |
GO:00019332 | Colorectum | MSS | negative regulation of protein phosphorylation | 93/3467 | 342/18723 | 4.54e-05 | 8.35e-04 | 93 |
GO:00336732 | Colorectum | MSS | negative regulation of kinase activity | 66/3467 | 237/18723 | 2.63e-04 | 3.54e-03 | 66 |
GO:00064692 | Colorectum | MSS | negative regulation of protein kinase activity | 60/3467 | 212/18723 | 3.08e-04 | 4.02e-03 | 60 |
GO:00516512 | Colorectum | MSS | maintenance of location in cell | 57/3467 | 214/18723 | 2.07e-03 | 1.76e-02 | 57 |
GO:00610991 | Colorectum | MSS | negative regulation of protein tyrosine kinase activity | 12/3467 | 31/18723 | 6.80e-03 | 4.39e-02 | 12 |
GO:00513484 | Colorectum | FAP | negative regulation of transferase activity | 63/2622 | 268/18723 | 1.82e-05 | 4.57e-04 | 63 |
GO:00019334 | Colorectum | FAP | negative regulation of protein phosphorylation | 75/2622 | 342/18723 | 4.02e-05 | 8.53e-04 | 75 |
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 |
IBTK | SNV | Missense_Mutation | novel | c.346G>T | p.Asp116Tyr | p.D116Y | Q9P2D0 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
IBTK | SNV | Missense_Mutation | rs757965458 | c.865N>A | p.Val289Ile | p.V289I | Q9P2D0 | protein_coding | tolerated(0.15) | possibly_damaging(0.906) | TCGA-AN-A0AK-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
IBTK | SNV | Missense_Mutation | | c.3443C>T | p.Ser1148Phe | p.S1148F | Q9P2D0 | protein_coding | deleterious(0.05) | possibly_damaging(0.526) | TCGA-BH-A0H5-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cytoxan | CR |
IBTK | SNV | Missense_Mutation | | c.3134N>T | p.Ser1045Phe | p.S1045F | Q9P2D0 | protein_coding | deleterious(0) | possibly_damaging(0.556) | TCGA-C8-A275-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
IBTK | SNV | Missense_Mutation | | c.1406N>C | p.Arg469Thr | p.R469T | Q9P2D0 | protein_coding | tolerated(0.06) | benign(0.094) | TCGA-E2-A10C-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cytoxan | SD |
IBTK | SNV | Missense_Mutation | rs772636120 | c.2201N>A | p.Ser734Asn | p.S734N | Q9P2D0 | protein_coding | tolerated(0.14) | possibly_damaging(0.448) | TCGA-GM-A2DO-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | CR |
IBTK | SNV | Missense_Mutation | novel | c.604N>C | p.Gly202Arg | p.G202R | Q9P2D0 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-GM-A5PV-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | taxotere | CR |
IBTK | SNV | Missense_Mutation | rs376596320 | c.467G>A | p.Gly156Asp | p.G156D | Q9P2D0 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
IBTK | SNV | Missense_Mutation | | c.106T>G | p.Phe36Val | p.F36V | Q9P2D0 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
IBTK | SNV | Missense_Mutation | | c.113N>G | p.Ser38Cys | p.S38C | Q9P2D0 | protein_coding | deleterious(0.02) | probably_damaging(0.949) | TCGA-EA-A50E-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | PD |