Tissue | Expression Dynamics | Abbreviation |
Breast | | IDC: Invasive ductal carcinoma |
DCIS: Ductal carcinoma in situ |
Precancer(BRCA1-mut): Precancerous lesion from BRCA1 mutation carriers |
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 |
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 |
GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:0090092 | Colorectum | FAP | regulation of transmembrane receptor protein serine/threonine kinase signaling pathway | 52/2622 | 256/18723 | 3.33e-03 | 2.44e-02 | 52 |
GO:00432545 | Colorectum | CRC | regulation of protein-containing complex assembly | 87/2078 | 428/18723 | 1.38e-08 | 2.67e-06 | 87 |
GO:00071783 | Colorectum | CRC | transmembrane receptor protein serine/threonine kinase signaling pathway | 66/2078 | 355/18723 | 1.74e-05 | 5.28e-04 | 66 |
GO:00715592 | Colorectum | CRC | response to transforming growth factor beta | 51/2078 | 256/18723 | 2.33e-05 | 6.65e-04 | 51 |
GO:00715602 | Colorectum | CRC | cellular response to transforming growth factor beta stimulus | 49/2078 | 250/18723 | 5.17e-05 | 1.19e-03 | 49 |
GO:00313335 | Colorectum | CRC | negative regulation of protein-containing complex assembly | 31/2078 | 141/18723 | 1.42e-04 | 2.62e-03 | 31 |
GO:00071792 | Colorectum | CRC | transforming growth factor beta receptor signaling pathway | 39/2078 | 198/18723 | 2.58e-04 | 4.19e-03 | 39 |
GO:00900921 | Colorectum | CRC | regulation of transmembrane receptor protein serine/threonine kinase signaling pathway | 46/2078 | 256/18723 | 6.66e-04 | 8.77e-03 | 46 |
GO:00487622 | Colorectum | CRC | mesenchymal cell differentiation | 42/2078 | 236/18723 | 1.35e-03 | 1.50e-02 | 42 |
GO:00170151 | Colorectum | CRC | regulation of transforming growth factor beta receptor signaling pathway | 26/2078 | 128/18723 | 1.63e-03 | 1.70e-02 | 26 |
GO:00604851 | Colorectum | CRC | mesenchyme development | 49/2078 | 291/18723 | 1.94e-03 | 1.96e-02 | 49 |
GO:00018371 | Colorectum | CRC | epithelial to mesenchymal transition | 30/2078 | 157/18723 | 2.06e-03 | 2.05e-02 | 30 |
GO:19038441 | Colorectum | CRC | regulation of cellular response to transforming growth factor beta stimulus | 26/2078 | 131/18723 | 2.29e-03 | 2.20e-02 | 26 |
GO:00019335 | Colorectum | CRC | negative regulation of protein phosphorylation | 55/2078 | 342/18723 | 3.05e-03 | 2.72e-02 | 55 |
GO:00459365 | Colorectum | CRC | negative regulation of phosphate metabolic process | 68/2078 | 441/18723 | 3.15e-03 | 2.78e-02 | 68 |
GO:00105635 | Colorectum | CRC | negative regulation of phosphorus metabolic process | 68/2078 | 442/18723 | 3.33e-03 | 2.85e-02 | 68 |
GO:00423265 | Colorectum | CRC | negative regulation of phosphorylation | 59/2078 | 385/18723 | 6.45e-03 | 4.67e-02 | 59 |
GO:004325416 | Endometrium | AEH | regulation of protein-containing complex assembly | 83/2100 | 428/18723 | 3.90e-07 | 1.63e-05 | 83 |
GO:00715596 | Endometrium | AEH | response to transforming growth factor beta | 53/2100 | 256/18723 | 7.01e-06 | 1.69e-04 | 53 |
GO:00071787 | Endometrium | AEH | transmembrane receptor protein serine/threonine kinase signaling pathway | 67/2100 | 355/18723 | 1.28e-05 | 2.80e-04 | 67 |
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 |
LDLRAD4 | SNV | Missense_Mutation | | c.99C>A | p.Asn33Lys | p.N33K | O15165 | protein_coding | deleterious_low_confidence(0.01) | possibly_damaging(0.451) | TCGA-D8-A1JS-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | tamoxiphen | SD |
LDLRAD4 | SNV | Missense_Mutation | | c.643N>A | p.Asp215Asn | p.D215N | O15165 | protein_coding | deleterious(0) | probably_damaging(0.998) | TCGA-C5-A1BQ-01 | Cervix | cervical & endocervical cancer | Female | >=65 | III/IV | Chemotherapy | cisplatin | CR |
LDLRAD4 | SNV | Missense_Mutation | novel | c.161N>T | p.Pro54Leu | p.P54L | O15165 | protein_coding | deleterious(0.03) | probably_damaging(0.998) | TCGA-5M-AAT6-01 | Colorectum | colon adenocarcinoma | Female | <65 | III/IV | Unknown | Unknown | PD |
LDLRAD4 | SNV | Missense_Mutation | | c.791N>A | p.Gly264Asp | p.G264D | O15165 | protein_coding | deleterious_low_confidence(0) | probably_damaging(0.965) | TCGA-AA-3672-01 | Colorectum | colon adenocarcinoma | Female | >=65 | III/IV | Unknown | Unknown | SD |
LDLRAD4 | SNV | Missense_Mutation | | c.665C>T | p.Ala222Val | p.A222V | O15165 | protein_coding | tolerated_low_confidence(0.06) | benign(0.021) | TCGA-D5-6930-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD |
LDLRAD4 | SNV | Missense_Mutation | | c.493N>A | p.Glu165Lys | p.E165K | O15165 | protein_coding | tolerated(0.05) | benign(0.306) | TCGA-EI-6917-01 | Colorectum | rectum adenocarcinoma | Male | <65 | III/IV | Chemotherapy | 5fluorouracil+oxaciplatina+l-folinian | SD |
LDLRAD4 | SNV | Missense_Mutation | novel | c.833G>A | p.Gly278Asp | p.G278D | O15165 | protein_coding | deleterious_low_confidence(0) | probably_damaging(1) | TCGA-A5-A2K5-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
LDLRAD4 | SNV | Missense_Mutation | novel | c.329N>C | p.Leu110Pro | p.L110P | O15165 | protein_coding | deleterious(0.04) | benign(0.037) | TCGA-AJ-A8CT-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
LDLRAD4 | SNV | Missense_Mutation | | c.619N>A | p.Ala207Thr | p.A207T | O15165 | protein_coding | deleterious(0) | probably_damaging(0.998) | TCGA-AP-A051-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
LDLRAD4 | SNV | Missense_Mutation | novel | c.280C>T | p.Arg94Trp | p.R94W | O15165 | protein_coding | tolerated(0.16) | benign(0.006) | TCGA-AP-A1DK-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |