Tissue | Expression Dynamics | Abbreviation |
Breast | | IDC: Invasive ductal carcinoma |
DCIS: Ductal carcinoma in situ |
Precancer(BRCA1-mut): Precancerous lesion from BRCA1 mutation carriers |
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 |
GC | | CAG: Chronic atrophic gastritis |
CAG with IM: Chronic atrophic gastritis with intestinal metaplasia |
CSG: Chronic superficial gastritis |
GC: Gastric cancer |
SIM: Severe intestinal metaplasia |
WIM: Wild intestinal metaplasia |
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:00485459 | Breast | Precancer | response to steroid hormone | 53/1080 | 339/18723 | 3.07e-11 | 3.66e-09 | 53 |
GO:00217629 | Breast | Precancer | substantia nigra development | 15/1080 | 44/18723 | 1.12e-08 | 7.98e-07 | 15 |
GO:00309018 | Breast | Precancer | midbrain development | 20/1080 | 90/18723 | 1.50e-07 | 7.93e-06 | 20 |
GO:00488578 | Breast | Precancer | neural nucleus development | 16/1080 | 64/18723 | 4.76e-07 | 2.11e-05 | 16 |
GO:00713838 | Breast | Precancer | cellular response to steroid hormone stimulus | 28/1080 | 204/18723 | 1.78e-05 | 4.26e-04 | 28 |
GO:00305187 | Breast | Precancer | intracellular steroid hormone receptor signaling pathway | 16/1080 | 116/18723 | 1.01e-03 | 1.13e-02 | 16 |
GO:19013617 | Breast | Precancer | organic cyclic compound catabolic process | 45/1080 | 495/18723 | 1.73e-03 | 1.74e-02 | 45 |
GO:00305228 | Breast | Precancer | intracellular receptor signaling pathway | 27/1080 | 265/18723 | 2.99e-03 | 2.57e-02 | 27 |
GO:00109596 | Breast | Precancer | regulation of metal ion transport | 37/1080 | 406/18723 | 4.07e-03 | 3.22e-02 | 37 |
GO:00434018 | Breast | Precancer | steroid hormone mediated signaling pathway | 16/1080 | 136/18723 | 5.21e-03 | 3.88e-02 | 16 |
GO:00228985 | Breast | Precancer | regulation of transmembrane transporter activity | 27/1080 | 278/18723 | 5.72e-03 | 4.11e-02 | 27 |
GO:004854514 | Breast | IDC | response to steroid hormone | 70/1434 | 339/18723 | 1.34e-14 | 4.23e-12 | 70 |
GO:002176214 | Breast | IDC | substantia nigra development | 18/1434 | 44/18723 | 1.11e-09 | 1.07e-07 | 18 |
GO:004885713 | Breast | IDC | neural nucleus development | 21/1434 | 64/18723 | 5.35e-09 | 4.28e-07 | 21 |
GO:003090112 | Breast | IDC | midbrain development | 24/1434 | 90/18723 | 4.35e-08 | 2.87e-06 | 24 |
GO:007138314 | Breast | IDC | cellular response to steroid hormone stimulus | 35/1434 | 204/18723 | 5.29e-06 | 1.75e-04 | 35 |
GO:003051813 | Breast | IDC | intracellular steroid hormone receptor signaling pathway | 22/1434 | 116/18723 | 6.16e-05 | 1.28e-03 | 22 |
GO:001095913 | Breast | IDC | regulation of metal ion transport | 52/1434 | 406/18723 | 1.76e-04 | 2.97e-03 | 52 |
GO:003052214 | Breast | IDC | intracellular receptor signaling pathway | 37/1434 | 265/18723 | 2.77e-04 | 4.26e-03 | 37 |
GO:004340113 | Breast | IDC | steroid hormone mediated signaling pathway | 22/1434 | 136/18723 | 6.51e-04 | 8.04e-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 |
YWHAH | insertion | Nonsense_Mutation | novel | c.290_291insTTCCCTCTGGAGGTTCTGTCCTTACAGATTGGTTTAAGTAATAC | p.Asn98SerfsTer12 | p.N98Sfs*12 | Q04917 | protein_coding | | | TCGA-A8-A0A1-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | tamoxiphen | SD |
YWHAH | SNV | Missense_Mutation | | c.541N>A | p.Val181Met | p.V181M | Q04917 | protein_coding | deleterious_low_confidence(0.01) | probably_damaging(1) | TCGA-F4-6808-01 | Colorectum | colon adenocarcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
YWHAH | SNV | Missense_Mutation | | c.231N>T | p.Lys77Asn | p.K77N | Q04917 | protein_coding | tolerated_low_confidence(0.07) | probably_damaging(0.999) | TCGA-AG-3892-01 | Colorectum | rectum adenocarcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
YWHAH | SNV | Missense_Mutation | novel | c.334T>G | p.Cys112Gly | p.C112G | Q04917 | protein_coding | deleterious_low_confidence(0) | probably_damaging(0.999) | TCGA-AP-A05N-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
YWHAH | SNV | Missense_Mutation | | c.604G>A | p.Asp202Asn | p.D202N | Q04917 | protein_coding | deleterious_low_confidence(0.01) | probably_damaging(0.997) | TCGA-AP-A0LM-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | cisplatin | SD |
YWHAH | SNV | Missense_Mutation | | c.231G>T | p.Lys77Asn | p.K77N | Q04917 | protein_coding | tolerated_low_confidence(0.07) | probably_damaging(0.999) | TCGA-AX-A0J0-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
YWHAH | SNV | Missense_Mutation | | c.125N>A | p.Arg42Gln | p.R42Q | Q04917 | protein_coding | deleterious_low_confidence(0.02) | probably_damaging(0.998) | TCGA-B5-A11E-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
YWHAH | SNV | Missense_Mutation | novel | c.194N>A | p.Ser65Asn | p.S65N | Q04917 | protein_coding | deleterious_low_confidence(0) | probably_damaging(0.972) | TCGA-B5-A3FC-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
YWHAH | SNV | Missense_Mutation | novel | c.334N>G | p.Cys112Gly | p.C112G | Q04917 | protein_coding | deleterious_low_confidence(0) | probably_damaging(0.999) | TCGA-D1-A0ZP-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | paclitaxel | PD |
YWHAH | SNV | Missense_Mutation | novel | c.706N>A | p.Asp236Asn | p.D236N | Q04917 | protein_coding | deleterious_low_confidence(0.01) | probably_damaging(0.996) | TCGA-EO-A22R-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |