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 |
Oral Cavity | | EOLP: Erosive Oral lichen planus |
LP: leukoplakia |
NEOLP: Non-erosive oral lichen planus |
OSCC: Oral squamous cell carcinoma |
GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:00510982 | Colorectum | MSS | regulation of binding | 113/3467 | 363/18723 | 3.55e-09 | 2.41e-07 | 113 |
GO:00516562 | Colorectum | MSS | establishment of organelle localization | 115/3467 | 390/18723 | 7.30e-08 | 3.67e-06 | 115 |
GO:00160502 | Colorectum | MSS | vesicle organization | 93/3467 | 300/18723 | 1.04e-07 | 4.97e-06 | 93 |
GO:00420602 | Colorectum | MSS | wound healing | 119/3467 | 422/18723 | 5.93e-07 | 2.24e-05 | 119 |
GO:00315322 | Colorectum | MSS | actin cytoskeleton reorganization | 41/3467 | 107/18723 | 1.21e-06 | 4.06e-05 | 41 |
GO:00513482 | Colorectum | MSS | negative regulation of transferase activity | 80/3467 | 268/18723 | 4.06e-06 | 1.17e-04 | 80 |
GO:00433932 | Colorectum | MSS | regulation of protein binding | 62/3467 | 196/18723 | 6.44e-06 | 1.69e-04 | 62 |
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:00516502 | Colorectum | MSS | establishment of vesicle localization | 51/3467 | 161/18723 | 3.92e-05 | 7.45e-04 | 51 |
GO:00019332 | Colorectum | MSS | negative regulation of protein phosphorylation | 93/3467 | 342/18723 | 4.54e-05 | 8.35e-04 | 93 |
GO:00508782 | Colorectum | MSS | regulation of body fluid levels | 99/3467 | 379/18723 | 1.40e-04 | 2.07e-03 | 99 |
GO:00516482 | Colorectum | MSS | vesicle localization | 53/3467 | 177/18723 | 1.47e-04 | 2.16e-03 | 53 |
GO:00336732 | Colorectum | MSS | negative regulation of kinase activity | 66/3467 | 237/18723 | 2.63e-04 | 3.54e-03 | 66 |
GO:00719002 | Colorectum | MSS | regulation of protein serine/threonine kinase activity | 93/3467 | 359/18723 | 2.98e-04 | 3.91e-03 | 93 |
GO:00064692 | Colorectum | MSS | negative regulation of protein kinase activity | 60/3467 | 212/18723 | 3.08e-04 | 4.02e-03 | 60 |
GO:19035321 | Colorectum | MSS | positive regulation of secretion by cell | 74/3467 | 282/18723 | 7.93e-04 | 8.36e-03 | 74 |
GO:00510472 | Colorectum | MSS | positive regulation of secretion | 80/3467 | 310/18723 | 8.55e-04 | 8.75e-03 | 80 |
GO:00163582 | Colorectum | MSS | dendrite development | 65/3467 | 243/18723 | 9.41e-04 | 9.50e-03 | 65 |
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 |
DTNBP1 | SNV | Missense_Mutation | novel | c.469A>G | p.Asn157Asp | p.N157D | Q96EV8 | protein_coding | tolerated(0.35) | benign(0.001) | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
DTNBP1 | deletion | Frame_Shift_Del | novel | c.597delN | p.Phe199LeufsTer27 | p.F199Lfs*27 | Q96EV8 | protein_coding | | | TCGA-D8-A27V-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | SD |
DTNBP1 | SNV | Missense_Mutation | rs75704383 | c.532N>A | p.Ala178Thr | p.A178T | Q96EV8 | protein_coding | tolerated(0.52) | benign(0.005) | TCGA-AA-3715-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | PD |
DTNBP1 | SNV | Missense_Mutation | | c.955N>C | p.Val319Leu | p.V319L | Q96EV8 | protein_coding | deleterious(0) | benign(0.187) | TCGA-NH-A8F7-06 | Colorectum | NA | NA | NA | NA | NA | NA | NA |
DTNBP1 | SNV | Missense_Mutation | novel | c.400N>T | p.His134Tyr | p.H134Y | Q96EV8 | protein_coding | tolerated(1) | benign(0) | TCGA-A5-A0G1-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
DTNBP1 | SNV | Missense_Mutation | novel | c.1046N>A | p.Ser349Asn | p.S349N | Q96EV8 | protein_coding | deleterious_low_confidence(0) | probably_damaging(0.986) | TCGA-A5-A1OF-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
DTNBP1 | SNV | Missense_Mutation | rs774300249 | c.325G>A | p.Ala109Thr | p.A109T | Q96EV8 | protein_coding | tolerated(0.35) | benign(0.215) | TCGA-AJ-A3EK-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Chemotherapy | carboplatin | CR |
DTNBP1 | SNV | Missense_Mutation | rs781381233 | c.887C>T | p.Pro296Leu | p.P296L | Q96EV8 | protein_coding | tolerated(0.18) | benign(0.183) | TCGA-AJ-A3EL-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
DTNBP1 | SNV | Missense_Mutation | novel | c.788N>G | p.Asn263Ser | p.N263S | Q96EV8 | protein_coding | tolerated(0.5) | benign(0.07) | TCGA-AP-A0LM-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | cisplatin | SD |
DTNBP1 | SNV | Missense_Mutation | | c.295G>A | p.Glu99Lys | p.E99K | Q96EV8 | protein_coding | tolerated(0.05) | benign(0.053) | TCGA-AX-A05Z-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | adriamycin | SD |