Tissue | Expression Dynamics | Abbreviation |
Breast | | IDC: Invasive ductal carcinoma |
DCIS: Ductal carcinoma in situ |
Precancer(BRCA1-mut): Precancerous lesion from BRCA1 mutation carriers |
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 |
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:0070265 | Breast | Precancer | necrotic cell death | 11/1080 | 62/18723 | 7.54e-04 | 9.01e-03 | 11 |
GO:00325358 | Breast | IDC | regulation of cellular component size | 45/1434 | 383/18723 | 2.72e-03 | 2.41e-02 | 45 |
GO:00702651 | Breast | IDC | necrotic cell death | 11/1434 | 62/18723 | 6.92e-03 | 4.79e-02 | 11 |
GO:003253514 | Breast | DCIS | regulation of cellular component size | 44/1390 | 383/18723 | 2.58e-03 | 2.30e-02 | 44 |
GO:00702652 | Breast | DCIS | necrotic cell death | 11/1390 | 62/18723 | 5.50e-03 | 4.01e-02 | 11 |
GO:003253510 | Endometrium | AEH | regulation of cellular component size | 78/2100 | 383/18723 | 1.10e-07 | 5.29e-06 | 78 |
GO:00083616 | Endometrium | AEH | regulation of cell size | 38/2100 | 181/18723 | 9.69e-05 | 1.40e-03 | 38 |
GO:003253516 | Endometrium | EEC | regulation of cellular component size | 79/2168 | 383/18723 | 1.98e-07 | 8.93e-06 | 79 |
GO:000836111 | Endometrium | EEC | regulation of cell size | 39/2168 | 181/18723 | 8.72e-05 | 1.24e-03 | 39 |
GO:003253520 | Esophagus | ESCC | regulation of cellular component size | 227/8552 | 383/18723 | 4.77e-08 | 8.60e-07 | 227 |
GO:00083619 | Esophagus | ESCC | regulation of cell size | 107/8552 | 181/18723 | 1.81e-04 | 1.16e-03 | 107 |
GO:00702654 | Esophagus | ESCC | necrotic cell death | 39/8552 | 62/18723 | 4.68e-03 | 1.82e-02 | 39 |
GO:00325356 | Liver | NAFLD | regulation of cellular component size | 55/1882 | 383/18723 | 4.31e-03 | 3.55e-02 | 55 |
GO:003253512 | Liver | Cirrhotic | regulation of cellular component size | 135/4634 | 383/18723 | 2.32e-06 | 4.26e-05 | 135 |
GO:003253522 | Liver | HCC | regulation of cellular component size | 217/7958 | 383/18723 | 1.28e-08 | 3.14e-07 | 217 |
GO:00083614 | Liver | HCC | regulation of cell size | 95/7958 | 181/18723 | 4.15e-03 | 1.81e-02 | 95 |
GO:003253519 | Oral cavity | OSCC | regulation of cellular component size | 201/7305 | 383/18723 | 4.80e-08 | 8.88e-07 | 201 |
GO:00083618 | Oral cavity | OSCC | regulation of cell size | 92/7305 | 181/18723 | 7.86e-04 | 4.26e-03 | 92 |
GO:00702653 | Oral cavity | OSCC | necrotic cell death | 34/7305 | 62/18723 | 8.23e-03 | 3.00e-02 | 34 |
GO:0032535110 | Oral cavity | LP | regulation of cellular component size | 128/4623 | 383/18723 | 6.56e-05 | 8.80e-04 | 128 |
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 |
TMEM123 | insertion | Frame_Shift_Ins | novel | c.230_231insCGATACCGAA | p.Ala78AspfsTer9 | p.A78Dfs*9 | Q8N131 | protein_coding | | | TCGA-AO-A0JC-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | fluorouracil | SD |
TMEM123 | SNV | Missense_Mutation | | c.497N>A | p.Thr166Asn | p.T166N | Q8N131 | protein_coding | deleterious(0.04) | probably_damaging(0.952) | TCGA-AG-A002-01 | Colorectum | rectum adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | SD |
TMEM123 | SNV | Missense_Mutation | novel | c.403N>A | p.Val135Ile | p.V135I | Q8N131 | protein_coding | deleterious(0.05) | benign(0.003) | TCGA-A5-A0G2-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
TMEM123 | SNV | Missense_Mutation | novel | c.604N>T | p.Asp202Tyr | p.D202Y | Q8N131 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-AP-A1E0-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | paclitaxel | SD |
TMEM123 | SNV | Missense_Mutation | novel | c.254C>T | p.Thr85Met | p.T85M | Q8N131 | protein_coding | deleterious(0) | probably_damaging(0.954) | TCGA-AX-A06F-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | carboplatin | SD |
TMEM123 | SNV | Missense_Mutation | novel | c.617C>T | p.Ala206Val | p.A206V | Q8N131 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-AX-A0J1-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
TMEM123 | SNV | Missense_Mutation | novel | c.521N>C | p.Val174Ala | p.V174A | Q8N131 | protein_coding | tolerated(0.09) | benign(0.403) | TCGA-AX-A2HD-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | III/IV | Unknown | Unknown | SD |
TMEM123 | SNV | Missense_Mutation | novel | c.547N>A | p.Leu183Ile | p.L183I | Q8N131 | protein_coding | deleterious(0.01) | probably_damaging(0.964) | TCGA-BS-A0UV-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
TMEM123 | SNV | Missense_Mutation | novel | c.117G>T | p.Glu39Asp | p.E39D | Q8N131 | protein_coding | tolerated(0.6) | benign(0.042) | TCGA-D1-A103-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
TMEM123 | insertion | In_Frame_Ins | novel | c.230_231insACCGAA | p.Val77_Ala78insProAsn | p.V77_A78insPN | Q8N131 | protein_coding | | | TCGA-A5-A0R9-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |