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 |
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 |
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:0072659 | Colorectum | AD | protein localization to plasma membrane | 122/3918 | 284/18723 | 2.86e-17 | 1.49e-14 | 122 |
GO:1990778 | Colorectum | AD | protein localization to cell periphery | 129/3918 | 333/18723 | 5.51e-14 | 1.15e-11 | 129 |
GO:1905475 | Colorectum | AD | regulation of protein localization to membrane | 73/3918 | 175/18723 | 3.37e-10 | 2.93e-08 | 73 |
GO:0045216 | Colorectum | AD | cell-cell junction organization | 80/3918 | 200/18723 | 5.57e-10 | 4.58e-08 | 80 |
GO:1903076 | Colorectum | AD | regulation of protein localization to plasma membrane | 48/3918 | 104/18723 | 7.17e-09 | 4.36e-07 | 48 |
GO:1904375 | Colorectum | AD | regulation of protein localization to cell periphery | 54/3918 | 125/18723 | 1.52e-08 | 9.00e-07 | 54 |
GO:0043112 | Colorectum | AD | receptor metabolic process | 62/3918 | 166/18723 | 8.18e-07 | 2.85e-05 | 62 |
GO:0007409 | Colorectum | AD | axonogenesis | 122/3918 | 418/18723 | 3.36e-05 | 6.15e-04 | 122 |
GO:0061564 | Colorectum | AD | axon development | 132/3918 | 467/18723 | 8.40e-05 | 1.31e-03 | 132 |
GO:0006898 | Colorectum | AD | receptor-mediated endocytosis | 76/3918 | 244/18723 | 1.07e-04 | 1.59e-03 | 76 |
GO:0030100 | Colorectum | AD | regulation of endocytosis | 67/3918 | 211/18723 | 1.42e-04 | 2.01e-03 | 67 |
GO:1903077 | Colorectum | AD | negative regulation of protein localization to plasma membrane | 13/3918 | 24/18723 | 3.45e-04 | 4.03e-03 | 13 |
GO:0010720 | Colorectum | AD | positive regulation of cell development | 87/3918 | 298/18723 | 4.17e-04 | 4.71e-03 | 87 |
GO:1904376 | Colorectum | AD | negative regulation of protein localization to cell periphery | 13/3918 | 26/18723 | 9.41e-04 | 8.92e-03 | 13 |
GO:1903828 | Colorectum | AD | negative regulation of cellular protein localization | 39/3918 | 117/18723 | 1.18e-03 | 1.06e-02 | 39 |
GO:0034332 | Colorectum | AD | adherens junction organization | 20/3918 | 49/18723 | 1.23e-03 | 1.09e-02 | 20 |
GO:0050767 | Colorectum | AD | regulation of neurogenesis | 99/3918 | 364/18723 | 2.35e-03 | 1.82e-02 | 99 |
GO:0048259 | Colorectum | AD | regulation of receptor-mediated endocytosis | 35/3918 | 110/18723 | 4.85e-03 | 3.27e-02 | 35 |
GO:0099072 | Colorectum | AD | regulation of postsynaptic membrane neurotransmitter receptor levels | 22/3918 | 62/18723 | 5.72e-03 | 3.64e-02 | 22 |
GO:0099003 | Colorectum | AD | vesicle-mediated transport in synapse | 57/3918 | 200/18723 | 6.53e-03 | 4.06e-02 | 57 |
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 |
NUMB | SNV | Missense_Mutation | novel | c.203N>T | p.Glu68Val | p.E68V | P49757 | protein_coding | tolerated(0.17) | probably_damaging(0.939) | TCGA-A8-A06P-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Unspecific | | SD |
NUMB | SNV | Missense_Mutation | | c.1813N>A | p.Glu605Lys | p.E605K | P49757 | protein_coding | tolerated_low_confidence(0.46) | benign(0.017) | TCGA-AC-A23H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
NUMB | SNV | Missense_Mutation | rs755122928 | c.1174N>T | p.Arg392Cys | p.R392C | P49757 | protein_coding | deleterious(0) | probably_damaging(0.959) | TCGA-AN-A0AK-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
NUMB | SNV | Missense_Mutation | | c.1457N>T | p.Ala486Val | p.A486V | P49757 | protein_coding | tolerated(0.43) | benign(0.027) | TCGA-AO-A0J9-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | cyclophosphamide | PD |
NUMB | SNV | Missense_Mutation | | c.1876A>C | p.Lys626Gln | p.K626Q | P49757 | protein_coding | deleterious(0) | possibly_damaging(0.811) | TCGA-D8-A1JP-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | tamoxiphen | SD |
NUMB | SNV | Missense_Mutation | | c.601A>T | p.Thr201Ser | p.T201S | P49757 | protein_coding | tolerated(0.44) | possibly_damaging(0.692) | TCGA-E9-A1NF-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | PD |
NUMB | SNV | Missense_Mutation | | c.1024N>A | p.Glu342Lys | p.E342K | P49757 | protein_coding | deleterious(0.05) | benign(0.24) | TCGA-C5-A1MH-01 | Cervix | cervical & endocervical cancer | Female | >=65 | III/IV | Chemotherapy | cisplatin | PD |
NUMB | SNV | Missense_Mutation | rs774508876 | c.874N>T | p.Arg292Cys | p.R292C | P49757 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-EA-A3HS-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
NUMB | SNV | Missense_Mutation | rs149035382 | c.1175G>A | p.Arg392His | p.R392H | P49757 | protein_coding | tolerated(0.08) | probably_damaging(0.959) | TCGA-A6-5665-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
NUMB | SNV | Missense_Mutation | | c.514C>T | p.Arg172Trp | p.R172W | P49757 | protein_coding | deleterious(0) | probably_damaging(0.997) | TCGA-A6-6141-01 | Colorectum | colon adenocarcinoma | Male | <65 | I/II | Chemotherapy | 5-fu | SD |