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 |
Endometrium | | AEH: Atypical endometrial hyperplasia |
EEC: Endometrioid 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 |
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:00085445 | Breast | Precancer | epidermis development | 35/1080 | 324/18723 | 2.71e-04 | 3.96e-03 | 35 |
GO:00099136 | Breast | Precancer | epidermal cell differentiation | 23/1080 | 202/18723 | 1.43e-03 | 1.50e-02 | 23 |
GO:00302163 | Breast | Precancer | keratinocyte differentiation | 17/1080 | 139/18723 | 2.71e-03 | 2.39e-02 | 17 |
GO:00605374 | Breast | Precancer | muscle tissue development | 37/1080 | 403/18723 | 3.60e-03 | 2.98e-02 | 37 |
GO:00020649 | Breast | Precancer | epithelial cell development | 23/1080 | 220/18723 | 4.28e-03 | 3.35e-02 | 23 |
GO:00147063 | Breast | Precancer | striated muscle tissue development | 35/1080 | 384/18723 | 5.10e-03 | 3.83e-02 | 35 |
GO:006053711 | Breast | IDC | muscle tissue development | 50/1434 | 403/18723 | 4.91e-04 | 6.45e-03 | 50 |
GO:000854412 | Breast | IDC | epidermis development | 41/1434 | 324/18723 | 1.03e-03 | 1.14e-02 | 41 |
GO:000991312 | Breast | IDC | epidermal cell differentiation | 28/1434 | 202/18723 | 1.62e-03 | 1.60e-02 | 28 |
GO:00147061 | Breast | IDC | striated muscle tissue development | 46/1434 | 384/18723 | 1.67e-03 | 1.63e-02 | 46 |
GO:00302161 | Breast | IDC | keratinocyte differentiation | 21/1434 | 139/18723 | 2.06e-03 | 1.95e-02 | 21 |
GO:00343414 | Breast | IDC | response to interferon-gamma | 21/1434 | 141/18723 | 2.46e-03 | 2.22e-02 | 21 |
GO:00435883 | Breast | IDC | skin development | 33/1434 | 263/18723 | 3.46e-03 | 2.87e-02 | 33 |
GO:000206414 | Breast | IDC | epithelial cell development | 28/1434 | 220/18723 | 5.53e-03 | 4.05e-02 | 28 |
GO:00075172 | Breast | IDC | muscle organ development | 38/1434 | 327/18723 | 6.63e-03 | 4.62e-02 | 38 |
GO:006053721 | Breast | DCIS | muscle tissue development | 50/1390 | 403/18723 | 2.39e-04 | 3.74e-03 | 50 |
GO:00147062 | Breast | DCIS | striated muscle tissue development | 46/1390 | 384/18723 | 8.88e-04 | 1.01e-02 | 46 |
GO:000854422 | Breast | DCIS | epidermis development | 40/1390 | 324/18723 | 1.05e-03 | 1.16e-02 | 40 |
GO:000991322 | Breast | DCIS | epidermal cell differentiation | 27/1390 | 202/18723 | 2.11e-03 | 1.97e-02 | 27 |
GO:00302162 | Breast | DCIS | keratinocyte differentiation | 20/1390 | 139/18723 | 3.24e-03 | 2.74e-02 | 20 |
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 |
FLNB | SNV | Missense_Mutation | rs760127618 | c.1711G>A | p.Val571Met | p.V571M | O75369 | protein_coding | deleterious(0.02) | probably_damaging(1) | TCGA-D1-A103-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
FLNB | SNV | Missense_Mutation | | c.4418G>A | p.Arg1473His | p.R1473H | O75369 | protein_coding | deleterious(0.05) | benign(0) | TCGA-D1-A103-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
FLNB | SNV | Missense_Mutation | | c.5581G>T | p.Gly1861Cys | p.G1861C | O75369 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-D1-A103-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
FLNB | SNV | Missense_Mutation | | c.1538N>C | p.Phe513Ser | p.F513S | O75369 | protein_coding | deleterious(0.01) | possibly_damaging(0.574) | TCGA-D1-A15X-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
FLNB | SNV | Missense_Mutation | rs368617386 | c.6716N>T | p.Ala2239Val | p.A2239V | O75369 | protein_coding | tolerated(0.51) | benign(0.324) | TCGA-D1-A174-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
FLNB | SNV | Missense_Mutation | rs150475174 | c.3409N>A | p.Val1137Met | p.V1137M | O75369 | protein_coding | tolerated(0.09) | possibly_damaging(0.707) | TCGA-D1-A175-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Chemotherapy | paclitaxel | SD |
FLNB | SNV | Missense_Mutation | novel | c.3622N>C | p.Tyr1208His | p.Y1208H | O75369 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-D1-A175-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Chemotherapy | paclitaxel | SD |
FLNB | SNV | Missense_Mutation | | c.2027N>T | p.Gly676Val | p.G676V | O75369 | protein_coding | deleterious(0.03) | probably_damaging(1) | TCGA-D1-A17Q-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
FLNB | SNV | Missense_Mutation | novel | c.5125N>A | p.Ala1709Thr | p.A1709T | O75369 | protein_coding | deleterious(0.05) | possibly_damaging(0.872) | TCGA-DF-A2KN-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | Unknown | I/II | Unknown | Unknown | SD |
FLNB | SNV | Missense_Mutation | novel | c.6850N>G | p.Ile2284Val | p.I2284V | O75369 | protein_coding | tolerated(1) | benign(0.007) | TCGA-DF-A2KN-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | Unknown | I/II | Unknown | Unknown | SD |