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 |
Endometrium | | AEH: Atypical endometrial hyperplasia |
EEC: Endometrioid Cancer |
Esophagus | | ESCC: Esophageal squamous cell carcinoma |
HGIN: High-grade intraepithelial neoplasias |
LGIN: Low-grade intraepithelial neoplasias |
GC | | CAG: Chronic atrophic gastritis |
CAG with IM: Chronic atrophic gastritis with intestinal metaplasia |
CSG: Chronic superficial gastritis |
GC: Gastric cancer |
SIM: Severe intestinal metaplasia |
WIM: Wild intestinal metaplasia |
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 |
Prostate | | BPH: Benign Prostatic Hyperplasia |
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:0031647 | Colorectum | AD | regulation of protein stability | 108/3918 | 298/18723 | 6.33e-10 | 5.08e-08 | 108 |
GO:0007409 | Colorectum | AD | axonogenesis | 122/3918 | 418/18723 | 3.36e-05 | 6.15e-04 | 122 |
GO:0044262 | Colorectum | AD | cellular carbohydrate metabolic process | 87/3918 | 283/18723 | 6.00e-05 | 1.01e-03 | 87 |
GO:0061564 | Colorectum | AD | axon development | 132/3918 | 467/18723 | 8.40e-05 | 1.31e-03 | 132 |
GO:0045995 | Colorectum | AD | regulation of embryonic development | 24/3918 | 64/18723 | 1.72e-03 | 1.43e-02 | 24 |
GO:0006486 | Colorectum | AD | protein glycosylation | 64/3918 | 226/18723 | 4.86e-03 | 3.27e-02 | 64 |
GO:0043413 | Colorectum | AD | macromolecule glycosylation | 64/3918 | 226/18723 | 4.86e-03 | 3.27e-02 | 64 |
GO:0070085 | Colorectum | AD | glycosylation | 67/3918 | 240/18723 | 5.78e-03 | 3.67e-02 | 67 |
GO:00316472 | Colorectum | MSS | regulation of protein stability | 103/3467 | 298/18723 | 2.52e-11 | 3.49e-09 | 103 |
GO:00074092 | Colorectum | MSS | axonogenesis | 105/3467 | 418/18723 | 4.32e-04 | 5.23e-03 | 105 |
GO:00615642 | Colorectum | MSS | axon development | 115/3467 | 467/18723 | 5.33e-04 | 6.00e-03 | 115 |
GO:0021955 | Colorectum | MSS | central nervous system neuron axonogenesis | 13/3467 | 35/18723 | 7.38e-03 | 4.68e-02 | 13 |
GO:00615643 | Colorectum | FAP | axon development | 106/2622 | 467/18723 | 1.98e-07 | 1.21e-05 | 106 |
GO:00074093 | Colorectum | FAP | axonogenesis | 97/2622 | 418/18723 | 2.20e-07 | 1.30e-05 | 97 |
GO:00316474 | Colorectum | FAP | regulation of protein stability | 70/2622 | 298/18723 | 6.60e-06 | 2.04e-04 | 70 |
GO:00442621 | Colorectum | FAP | cellular carbohydrate metabolic process | 66/2622 | 283/18723 | 1.53e-05 | 4.01e-04 | 66 |
GO:00064861 | Colorectum | FAP | protein glycosylation | 48/2622 | 226/18723 | 1.85e-03 | 1.57e-02 | 48 |
GO:00434131 | Colorectum | FAP | macromolecule glycosylation | 48/2622 | 226/18723 | 1.85e-03 | 1.57e-02 | 48 |
GO:0021700 | Colorectum | FAP | developmental maturation | 57/2622 | 280/18723 | 2.08e-03 | 1.72e-02 | 57 |
GO:00700851 | Colorectum | FAP | glycosylation | 50/2622 | 240/18723 | 2.30e-03 | 1.85e-02 | 50 |
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 |
B4GALT5 | SNV | Missense_Mutation | | c.415N>C | p.Glu139Gln | p.E139Q | O43286 | protein_coding | tolerated(1) | benign(0.009) | TCGA-A7-A26H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | anastrozole | PD |
B4GALT5 | SNV | Missense_Mutation | novel | c.68N>A | p.Ser23Tyr | p.S23Y | O43286 | protein_coding | deleterious(0.01) | benign(0.02) | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
B4GALT5 | SNV | Missense_Mutation | | c.1045N>C | p.Glu349Gln | p.E349Q | O43286 | protein_coding | tolerated(0.11) | possibly_damaging(0.459) | TCGA-AR-A0TX-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
B4GALT5 | SNV | Missense_Mutation | novel | c.790N>C | p.Tyr264His | p.Y264H | O43286 | protein_coding | deleterious(0) | probably_damaging(0.997) | TCGA-BH-A5IZ-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | CR |
B4GALT5 | SNV | Missense_Mutation | | c.641N>C | p.Phe214Ser | p.F214S | O43286 | protein_coding | deleterious(0) | possibly_damaging(0.723) | TCGA-C8-A26Z-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | CR |
B4GALT5 | SNV | Missense_Mutation | | c.901G>C | p.Asp301His | p.D301H | O43286 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-EW-A1J5-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | SD |
B4GALT5 | insertion | Frame_Shift_Ins | novel | c.566_567insTGTGGCCTTGGAGTCAAGAGACC | p.Gln189HisfsTer42 | p.Q189Hfs*42 | O43286 | protein_coding | | | TCGA-A8-A06O-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | letrozole | SD |
B4GALT5 | insertion | In_Frame_Ins | novel | c.945_946insTGTTGCATGTATTCTAACTCTGAGGCAGAA | p.Ser315_Arg316insCysCysMetTyrSerAsnSerGluAlaGlu | p.S315_R316insCCMYSNSEAE | O43286 | protein_coding | | | TCGA-A8-A07R-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Ancillary | zoledronic | SD |
B4GALT5 | insertion | Frame_Shift_Ins | novel | c.941_942insTTTCCATAAAACATATTTATATATTGTGATGAGGAGTA | p.Ser315PhefsTer43 | p.S315Ffs*43 | O43286 | protein_coding | | | TCGA-A8-A09B-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | 5-fluorouracil | SD |
B4GALT5 | insertion | Nonsense_Mutation | novel | c.1082_1083insGTGCAGGAACTCAGTTAAAATGCAGTTGAAGAATGTCATCTCCCGAATT | p.Tyr361Ter | p.Y361* | O43286 | protein_coding | | | TCGA-B6-A0RE-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |