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:00715606 | Endometrium | AEH | cellular response to transforming growth factor beta stimulus | 51/2100 | 250/18723 | 1.59e-05 | 3.32e-04 | 51 |
GO:00303364 | Endometrium | AEH | negative regulation of cell migration | 65/2100 | 344/18723 | 1.65e-05 | 3.42e-04 | 65 |
GO:20001464 | Endometrium | AEH | negative regulation of cell motility | 67/2100 | 359/18723 | 1.86e-05 | 3.77e-04 | 67 |
GO:00512714 | Endometrium | AEH | negative regulation of cellular component movement | 68/2100 | 367/18723 | 2.06e-05 | 4.11e-04 | 68 |
GO:00400134 | Endometrium | AEH | negative regulation of locomotion | 70/2100 | 391/18723 | 4.95e-05 | 8.05e-04 | 70 |
GO:004593616 | Endometrium | AEH | negative regulation of phosphate metabolic process | 77/2100 | 441/18723 | 5.13e-05 | 8.25e-04 | 77 |
GO:001056316 | Endometrium | AEH | negative regulation of phosphorus metabolic process | 77/2100 | 442/18723 | 5.54e-05 | 8.79e-04 | 77 |
GO:003133310 | Endometrium | AEH | negative regulation of protein-containing complex assembly | 32/2100 | 141/18723 | 7.22e-05 | 1.10e-03 | 32 |
GO:00487625 | Endometrium | AEH | mesenchymal cell differentiation | 46/2100 | 236/18723 | 1.27e-04 | 1.74e-03 | 46 |
GO:00604853 | Endometrium | AEH | mesenchyme development | 54/2100 | 291/18723 | 1.34e-04 | 1.83e-03 | 54 |
GO:00018375 | Endometrium | AEH | epithelial to mesenchymal transition | 33/2100 | 157/18723 | 2.64e-04 | 3.09e-03 | 33 |
GO:000193315 | Endometrium | AEH | negative regulation of protein phosphorylation | 60/2100 | 342/18723 | 2.89e-04 | 3.31e-03 | 60 |
GO:004232615 | Endometrium | AEH | negative regulation of phosphorylation | 65/2100 | 385/18723 | 4.93e-04 | 5.06e-03 | 65 |
GO:00071796 | Endometrium | AEH | transforming growth factor beta receptor signaling pathway | 38/2100 | 198/18723 | 6.41e-04 | 6.23e-03 | 38 |
GO:00900922 | Endometrium | AEH | regulation of transmembrane receptor protein serine/threonine kinase signaling pathway | 43/2100 | 256/18723 | 4.47e-03 | 2.93e-02 | 43 |
GO:004325417 | Endometrium | EEC | regulation of protein-containing complex assembly | 83/2168 | 428/18723 | 1.44e-06 | 4.64e-05 | 83 |
GO:200014613 | Endometrium | EEC | negative regulation of cell motility | 71/2168 | 359/18723 | 3.98e-06 | 1.04e-04 | 71 |
GO:005127113 | Endometrium | EEC | negative regulation of cellular component movement | 72/2168 | 367/18723 | 4.59e-06 | 1.15e-04 | 72 |
GO:007155914 | Endometrium | EEC | response to transforming growth factor beta | 54/2168 | 256/18723 | 8.25e-06 | 1.83e-04 | 54 |
GO:003033612 | Endometrium | EEC | negative regulation of cell migration | 67/2168 | 344/18723 | 1.24e-05 | 2.54e-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 |