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:0007565 | Liver | Cirrhotic | female pregnancy | 65/4634 | 193/18723 | 3.21e-03 | 1.80e-02 | 65 |
GO:00106327 | Liver | Cirrhotic | regulation of epithelial cell migration | 93/4634 | 292/18723 | 3.46e-03 | 1.92e-02 | 93 |
GO:00106317 | Liver | Cirrhotic | epithelial cell migration | 110/4634 | 357/18723 | 5.14e-03 | 2.65e-02 | 110 |
GO:0007566 | Liver | Cirrhotic | embryo implantation | 22/4634 | 53/18723 | 5.36e-03 | 2.73e-02 | 22 |
GO:00901327 | Liver | Cirrhotic | epithelium migration | 110/4634 | 360/18723 | 6.79e-03 | 3.35e-02 | 110 |
GO:004586011 | Liver | Cirrhotic | positive regulation of protein kinase activity | 117/4634 | 386/18723 | 7.07e-03 | 3.41e-02 | 117 |
GO:0001765 | Liver | Cirrhotic | membrane raft assembly | 7/4634 | 11/18723 | 7.11e-03 | 3.41e-02 | 7 |
GO:00901307 | Liver | Cirrhotic | tissue migration | 111/4634 | 365/18723 | 7.66e-03 | 3.61e-02 | 111 |
GO:00315792 | Liver | Cirrhotic | membrane raft organization | 12/4634 | 25/18723 | 9.84e-03 | 4.42e-02 | 12 |
GO:0044706 | Liver | Cirrhotic | multi-multicellular organism process | 70/4634 | 220/18723 | 1.03e-02 | 4.61e-02 | 70 |
GO:001648221 | Liver | HCC | cytosolic transport | 117/7958 | 168/18723 | 8.83e-13 | 4.48e-11 | 117 |
GO:007265921 | Liver | HCC | protein localization to plasma membrane | 177/7958 | 284/18723 | 1.02e-11 | 4.18e-10 | 177 |
GO:199077821 | Liver | HCC | protein localization to cell periphery | 200/7958 | 333/18723 | 6.07e-11 | 2.23e-09 | 200 |
GO:190290322 | Liver | HCC | regulation of supramolecular fiber organization | 224/7958 | 383/18723 | 1.54e-10 | 5.33e-09 | 224 |
GO:000701522 | Liver | HCC | actin filament organization | 252/7958 | 442/18723 | 3.83e-10 | 1.25e-08 | 252 |
GO:190290522 | Liver | HCC | positive regulation of supramolecular fiber organization | 131/7958 | 209/18723 | 2.85e-09 | 7.69e-08 | 131 |
GO:009892711 | Liver | HCC | vesicle-mediated transport between endosomal compartments | 32/7958 | 43/18723 | 2.16e-05 | 2.30e-04 | 32 |
GO:004502211 | Liver | HCC | early endosome to late endosome transport | 30/7958 | 40/18723 | 3.04e-05 | 3.12e-04 | 30 |
GO:001081022 | Liver | HCC | regulation of cell-substrate adhesion | 123/7958 | 221/18723 | 5.15e-05 | 4.90e-04 | 123 |
GO:004409111 | Liver | HCC | membrane biogenesis | 37/7958 | 55/18723 | 1.79e-04 | 1.41e-03 | 37 |
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 |