Tissue | Expression Dynamics | Abbreviation |
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 |
Oral Cavity | | EOLP: Erosive Oral lichen planus |
LP: leukoplakia |
NEOLP: Non-erosive oral lichen planus |
OSCC: Oral squamous cell carcinoma |
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:001049826 | Esophagus | HGIN | proteasomal protein catabolic process | 139/2587 | 490/18723 | 1.20e-17 | 3.41e-15 | 139 |
GO:004316126 | Esophagus | HGIN | proteasome-mediated ubiquitin-dependent protein catabolic process | 114/2587 | 412/18723 | 7.00e-14 | 1.20e-11 | 114 |
GO:000734610 | Esophagus | HGIN | regulation of mitotic cell cycle | 98/2587 | 457/18723 | 4.39e-06 | 1.42e-04 | 98 |
GO:003009927 | Esophagus | HGIN | myeloid cell differentiation | 83/2587 | 381/18723 | 1.26e-05 | 3.52e-04 | 83 |
GO:003410127 | Esophagus | HGIN | erythrocyte homeostasis | 34/2587 | 129/18723 | 1.16e-04 | 2.43e-03 | 34 |
GO:003021826 | Esophagus | HGIN | erythrocyte differentiation | 31/2587 | 120/18723 | 3.35e-04 | 5.50e-03 | 31 |
GO:000226227 | Esophagus | HGIN | myeloid cell homeostasis | 37/2587 | 157/18723 | 6.63e-04 | 9.04e-03 | 37 |
GO:004887227 | Esophagus | HGIN | homeostasis of number of cells | 54/2587 | 272/18723 | 3.50e-03 | 3.23e-02 | 54 |
GO:0010498111 | Esophagus | ESCC | proteasomal protein catabolic process | 369/8552 | 490/18723 | 1.13e-41 | 1.80e-38 | 369 |
GO:0043161111 | Esophagus | ESCC | proteasome-mediated ubiquitin-dependent protein catabolic process | 312/8552 | 412/18723 | 3.53e-36 | 4.48e-33 | 312 |
GO:000734615 | Esophagus | ESCC | regulation of mitotic cell cycle | 293/8552 | 457/18723 | 8.00e-16 | 5.64e-14 | 293 |
GO:0030099111 | Esophagus | ESCC | myeloid cell differentiation | 232/8552 | 381/18723 | 1.22e-09 | 2.90e-08 | 232 |
GO:0002262111 | Esophagus | ESCC | myeloid cell homeostasis | 104/8552 | 157/18723 | 1.49e-07 | 2.36e-06 | 104 |
GO:0034101111 | Esophagus | ESCC | erythrocyte homeostasis | 88/8552 | 129/18723 | 1.81e-07 | 2.84e-06 | 88 |
GO:0048872111 | Esophagus | ESCC | homeostasis of number of cells | 163/8552 | 272/18723 | 1.40e-06 | 1.69e-05 | 163 |
GO:0030218111 | Esophagus | ESCC | erythrocyte differentiation | 80/8552 | 120/18723 | 2.69e-06 | 3.08e-05 | 80 |
GO:001049822 | Liver | HCC | proteasomal protein catabolic process | 351/7958 | 490/18723 | 6.92e-40 | 1.46e-36 | 351 |
GO:004316122 | Liver | HCC | proteasome-mediated ubiquitin-dependent protein catabolic process | 299/7958 | 412/18723 | 7.82e-36 | 8.27e-33 | 299 |
GO:000734611 | Liver | HCC | regulation of mitotic cell cycle | 255/7958 | 457/18723 | 4.96e-09 | 1.30e-07 | 255 |
GO:003410122 | Liver | HCC | erythrocyte homeostasis | 79/7958 | 129/18723 | 1.32e-05 | 1.47e-04 | 79 |
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 |
MAEA | SNV | Missense_Mutation | novel | c.287N>G | p.Ala96Gly | p.A96G | Q7L5Y9 | protein_coding | tolerated(0.31) | benign(0.009) | TCGA-BH-A0EE-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | docetaxel | SD |
MAEA | insertion | In_Frame_Ins | novel | c.272_273insAGCACAGGCCTGGAA | p.Ala91_Glu92insAlaGlnAlaTrpAsn | p.A91_E92insAQAWN | Q7L5Y9 | protein_coding | | | TCGA-AN-A0FF-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
MAEA | insertion | Nonsense_Mutation | novel | c.274_275insTTTCTATCTAGCCCGATTCATTTTT | p.Glu92ValfsTer4 | p.E92Vfs*4 | Q7L5Y9 | protein_coding | | | TCGA-AN-A0FF-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
MAEA | insertion | Frame_Shift_Ins | novel | c.285_286insACTTCCAAAGG | p.Ala96ThrfsTer37 | p.A96Tfs*37 | Q7L5Y9 | protein_coding | | | TCGA-BH-A0EE-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | docetaxel | SD |
MAEA | SNV | Missense_Mutation | novel | c.973G>A | p.Ala325Thr | p.A325T | Q7L5Y9 | protein_coding | deleterious(0.02) | benign(0.366) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
MAEA | SNV | Missense_Mutation | | c.520N>A | p.Glu174Lys | p.E174K | Q7L5Y9 | protein_coding | tolerated(0.13) | possibly_damaging(0.688) | TCGA-IR-A3LA-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
MAEA | SNV | Missense_Mutation | rs765652453 | c.371N>A | p.Arg124His | p.R124H | Q7L5Y9 | protein_coding | deleterious(0.03) | probably_damaging(0.972) | TCGA-AA-3715-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | PD |
MAEA | SNV | Missense_Mutation | rs765652453 | c.371N>A | p.Arg124His | p.R124H | Q7L5Y9 | protein_coding | deleterious(0.03) | probably_damaging(0.972) | TCGA-AA-A01R-01 | Colorectum | colon adenocarcinoma | Male | <65 | III/IV | Chemotherapy | 5-fluorouracil | PD |
MAEA | SNV | Missense_Mutation | | c.135N>G | p.Ser45Arg | p.S45R | Q7L5Y9 | protein_coding | tolerated(0.11) | possibly_damaging(0.449) | TCGA-AD-6895-01 | Colorectum | colon adenocarcinoma | Male | >=65 | III/IV | Unknown | Unknown | SD |
MAEA | SNV | Missense_Mutation | | c.746N>T | p.Thr249Met | p.T249M | Q7L5Y9 | protein_coding | deleterious(0.01) | possibly_damaging(0.838) | TCGA-CM-6171-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |