Tissue | Expression Dynamics | Abbreviation |
Breast | | IDC: Invasive ductal carcinoma |
DCIS: Ductal carcinoma in situ |
Precancer(BRCA1-mut): Precancerous lesion from BRCA1 mutation carriers |
Cervix | | CC: Cervix cancer |
HSIL_HPV: HPV-infected high-grade squamous intraepithelial lesions |
N_HPV: HPV-infected normal cervix |
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 |
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:00440915 | Cervix | N_HPV | membrane biogenesis | 6/534 | 55/18723 | 4.64e-03 | 3.47e-02 | 6 |
GO:00435341 | Cervix | N_HPV | blood vessel endothelial cell migration | 12/534 | 176/18723 | 4.70e-03 | 3.51e-02 | 12 |
GO:000195413 | Cervix | N_HPV | positive regulation of cell-matrix adhesion | 6/534 | 58/18723 | 6.04e-03 | 4.17e-02 | 6 |
GO:000716013 | Cervix | N_HPV | cell-matrix adhesion | 14/534 | 233/18723 | 7.21e-03 | 4.74e-02 | 14 |
GO:0072659 | Colorectum | AD | protein localization to plasma membrane | 122/3918 | 284/18723 | 2.86e-17 | 1.49e-14 | 122 |
GO:0007015 | Colorectum | AD | actin filament organization | 167/3918 | 442/18723 | 1.65e-16 | 7.94e-14 | 167 |
GO:1990778 | Colorectum | AD | protein localization to cell periphery | 129/3918 | 333/18723 | 5.51e-14 | 1.15e-11 | 129 |
GO:0016482 | Colorectum | AD | cytosolic transport | 68/3918 | 168/18723 | 6.00e-09 | 3.72e-07 | 68 |
GO:0010811 | Colorectum | AD | positive regulation of cell-substrate adhesion | 53/3918 | 123/18723 | 2.30e-08 | 1.27e-06 | 53 |
GO:0010810 | Colorectum | AD | regulation of cell-substrate adhesion | 81/3918 | 221/18723 | 4.80e-08 | 2.55e-06 | 81 |
GO:0031589 | Colorectum | AD | cell-substrate adhesion | 116/3918 | 363/18723 | 4.68e-07 | 1.76e-05 | 116 |
GO:0001952 | Colorectum | AD | regulation of cell-matrix adhesion | 50/3918 | 128/18723 | 2.05e-06 | 6.05e-05 | 50 |
GO:0001954 | Colorectum | AD | positive regulation of cell-matrix adhesion | 27/3918 | 58/18723 | 1.12e-05 | 2.55e-04 | 27 |
GO:0001667 | Colorectum | AD | ameboidal-type cell migration | 137/3918 | 475/18723 | 2.17e-05 | 4.33e-04 | 137 |
GO:0007160 | Colorectum | AD | cell-matrix adhesion | 75/3918 | 233/18723 | 3.56e-05 | 6.45e-04 | 75 |
GO:0090132 | Colorectum | AD | epithelium migration | 105/3918 | 360/18723 | 1.18e-04 | 1.73e-03 | 105 |
GO:0010632 | Colorectum | AD | regulation of epithelial cell migration | 88/3918 | 292/18723 | 1.19e-04 | 1.75e-03 | 88 |
GO:0033674 | Colorectum | AD | positive regulation of kinase activity | 131/3918 | 467/18723 | 1.28e-04 | 1.85e-03 | 131 |
GO:0010631 | Colorectum | AD | epithelial cell migration | 104/3918 | 357/18723 | 1.33e-04 | 1.90e-03 | 104 |
GO:0071709 | Colorectum | AD | membrane assembly | 22/3918 | 50/18723 | 2.00e-04 | 2.66e-03 | 22 |
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 |
EMP2 | insertion | In_Frame_Ins | novel | c.444_445insCTTGTAATCCCA | p.Val148_Ala149insLeuValIlePro | p.V148_A149insLVIP | P54851 | protein_coding | | | TCGA-A2-A0CM-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | PD |
EMP2 | insertion | Frame_Shift_Ins | novel | c.204_205insGCAGCCGCGC | p.Ile69AlafsTer56 | p.I69Afs*56 | P54851 | protein_coding | | | TCGA-B6-A0IA-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
EMP2 | insertion | Frame_Shift_Ins | novel | c.202_203insGGAGGAGGGAGAATTTGGAAAGGAGAAAT | p.Met68ArgfsTer11 | p.M68Rfs*11 | P54851 | protein_coding | | | TCGA-B6-A0IA-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
EMP2 | SNV | Missense_Mutation | rs587777482 | c.28G>A | p.Ala10Thr | p.A10T | P54851 | protein_coding | tolerated(0.08) | benign(0.146) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
EMP2 | SNV | Missense_Mutation | rs370673124 | c.359N>A | p.Arg120His | p.R120H | P54851 | protein_coding | tolerated(0.34) | benign(0.027) | TCGA-AA-3713-01 | Colorectum | colon adenocarcinoma | Male | >=65 | III/IV | Chemotherapy | 5-fluorouracil | PR |
EMP2 | SNV | Missense_Mutation | | c.176N>A | p.Ser59Tyr | p.S59Y | P54851 | protein_coding | deleterious(0.04) | possibly_damaging(0.837) | TCGA-AA-3713-01 | Colorectum | colon adenocarcinoma | Male | >=65 | III/IV | Chemotherapy | 5-fluorouracil | PR |
EMP2 | SNV | Missense_Mutation | rs587777482 | c.28G>A | p.Ala10Thr | p.A10T | P54851 | protein_coding | tolerated(0.08) | benign(0.146) | TCGA-AD-6895-01 | Colorectum | colon adenocarcinoma | Male | >=65 | III/IV | Unknown | Unknown | SD |
EMP2 | SNV | Missense_Mutation | rs587777482 | c.28G>A | p.Ala10Thr | p.A10T | P54851 | protein_coding | tolerated(0.08) | benign(0.146) | TCGA-AP-A051-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
EMP2 | SNV | Missense_Mutation | | c.418N>A | p.Gly140Ser | p.G140S | P54851 | protein_coding | deleterious(0) | probably_damaging(0.99) | TCGA-AX-A0J1-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
EMP2 | SNV | Missense_Mutation | rs562241873 | c.232N>A | p.Ala78Thr | p.A78T | P54851 | protein_coding | deleterious(0.01) | possibly_damaging(0.456) | TCGA-AX-A0J1-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |