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 |
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:00353034 | Colorectum | FAP | regulation of dephosphorylation | 36/2622 | 128/18723 | 2.22e-05 | 5.28e-04 | 36 |
GO:00323864 | Colorectum | FAP | regulation of intracellular transport | 75/2622 | 337/18723 | 2.38e-05 | 5.60e-04 | 75 |
GO:00331574 | Colorectum | FAP | regulation of intracellular protein transport | 55/2622 | 229/18723 | 3.20e-05 | 7.20e-04 | 55 |
GO:00345044 | Colorectum | FAP | protein localization to nucleus | 66/2622 | 290/18723 | 3.47e-05 | 7.64e-04 | 66 |
GO:00347641 | Colorectum | FAP | positive regulation of transmembrane transport | 53/2622 | 219/18723 | 3.54e-05 | 7.75e-04 | 53 |
GO:19023074 | Colorectum | FAP | positive regulation of sodium ion transmembrane transport | 11/2622 | 21/18723 | 3.61e-05 | 7.86e-04 | 11 |
GO:00019334 | Colorectum | FAP | negative regulation of protein phosphorylation | 75/2622 | 342/18723 | 4.02e-05 | 8.53e-04 | 75 |
GO:00459364 | Colorectum | FAP | negative regulation of phosphate metabolic process | 92/2622 | 441/18723 | 4.43e-05 | 9.26e-04 | 92 |
GO:00105634 | Colorectum | FAP | negative regulation of phosphorus metabolic process | 92/2622 | 442/18723 | 4.84e-05 | 9.91e-04 | 92 |
GO:00064693 | Colorectum | FAP | negative regulation of protein kinase activity | 51/2622 | 212/18723 | 5.82e-05 | 1.15e-03 | 51 |
GO:19001804 | Colorectum | FAP | regulation of protein localization to nucleus | 36/2622 | 136/18723 | 8.95e-05 | 1.58e-03 | 36 |
GO:00313964 | Colorectum | FAP | regulation of protein ubiquitination | 50/2622 | 210/18723 | 9.03e-05 | 1.59e-03 | 50 |
GO:00423264 | Colorectum | FAP | negative regulation of phosphorylation | 81/2622 | 385/18723 | 9.16e-05 | 1.59e-03 | 81 |
GO:20006514 | Colorectum | FAP | positive regulation of sodium ion transmembrane transporter activity | 9/2622 | 16/18723 | 9.19e-05 | 1.59e-03 | 9 |
GO:0035725 | Colorectum | FAP | sodium ion transmembrane transport | 44/2622 | 178/18723 | 9.31e-05 | 1.60e-03 | 44 |
GO:00228981 | Colorectum | FAP | regulation of transmembrane transporter activity | 62/2622 | 278/18723 | 1.09e-04 | 1.80e-03 | 62 |
GO:00324121 | Colorectum | FAP | regulation of ion transmembrane transporter activity | 60/2622 | 267/18723 | 1.12e-04 | 1.84e-03 | 60 |
GO:00324092 | Colorectum | FAP | regulation of transporter activity | 67/2622 | 310/18723 | 1.59e-04 | 2.43e-03 | 67 |
GO:00336733 | Colorectum | FAP | negative regulation of kinase activity | 54/2622 | 237/18723 | 1.66e-04 | 2.51e-03 | 54 |
GO:00467773 | Colorectum | FAP | protein autophosphorylation | 52/2622 | 227/18723 | 1.88e-04 | 2.76e-03 | 52 |
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 |
CHP1 | SNV | Missense_Mutation | rs79101281 | c.466N>A | p.Ala156Thr | p.A156T | Q99653 | protein_coding | tolerated(0.18) | benign(0.025) | TCGA-BH-A18G-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
CHP1 | deletion | Frame_Shift_Del | novel | c.298delN | p.Asp101MetfsTer2 | p.D101Mfs*2 | Q99653 | protein_coding | | | TCGA-D8-A27V-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | SD |
CHP1 | SNV | Missense_Mutation | | c.73N>T | p.His25Tyr | p.H25Y | Q99653 | protein_coding | deleterious(0.04) | benign(0.068) | TCGA-JW-A5VL-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
CHP1 | SNV | Missense_Mutation | novel | c.280N>A | p.Glu94Lys | p.E94K | Q99653 | protein_coding | tolerated(0.58) | benign(0.001) | TCGA-ZJ-AAXT-01 | Cervix | cervical & endocervical cancer | Female | <65 | III/IV | Unknown | Unknown | SD |
CHP1 | SNV | Missense_Mutation | rs767999244 | c.254G>A | p.Arg85Gln | p.R85Q | Q99653 | protein_coding | tolerated(0.09) | benign(0.154) | TCGA-EI-6917-01 | Colorectum | rectum adenocarcinoma | Male | <65 | III/IV | Chemotherapy | 5fluorouracil+oxaciplatina+l-folinian | SD |
CHP1 | SNV | Missense_Mutation | rs770704424 | c.419G>A | p.Arg140His | p.R140H | Q99653 | protein_coding | tolerated(0.32) | benign(0.006) | TCGA-EI-6917-01 | Colorectum | rectum adenocarcinoma | Male | <65 | III/IV | Chemotherapy | 5fluorouracil+oxaciplatina+l-folinian | SD |
CHP1 | SNV | Missense_Mutation | novel | c.580N>A | p.Leu194Ile | p.L194I | Q99653 | protein_coding | deleterious(0.02) | probably_damaging(0.966) | TCGA-A5-A0G2-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
CHP1 | SNV | Missense_Mutation | | c.329G>A | p.Ser110Asn | p.S110N | Q99653 | protein_coding | tolerated(0.09) | benign(0.007) | TCGA-A5-A0GP-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
CHP1 | SNV | Missense_Mutation | novel | c.580N>A | p.Leu194Ile | p.L194I | Q99653 | protein_coding | deleterious(0.02) | probably_damaging(0.966) | TCGA-B5-A1MR-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | III/IV | Unknown | Unknown | SD |
CHP1 | SNV | Missense_Mutation | | c.292N>G | p.Lys98Glu | p.K98E | Q99653 | protein_coding | tolerated(0.35) | benign(0) | TCGA-BS-A0UJ-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |