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:00018927 | Breast | Precancer | embryonic placenta development | 14/1080 | 82/18723 | 2.30e-04 | 3.48e-03 | 14 |
GO:00486087 | Breast | Precancer | reproductive structure development | 43/1080 | 424/18723 | 2.36e-04 | 3.56e-03 | 43 |
GO:00614587 | Breast | Precancer | reproductive system development | 43/1080 | 427/18723 | 2.75e-04 | 4.00e-03 | 43 |
GO:00018907 | Breast | Precancer | placenta development | 19/1080 | 144/18723 | 6.26e-04 | 7.78e-03 | 19 |
GO:00017017 | Breast | Precancer | in utero embryonic development | 35/1080 | 367/18723 | 2.47e-03 | 2.27e-02 | 35 |
GO:19900908 | Breast | Precancer | cellular response to nerve growth factor stimulus | 9/1080 | 53/18723 | 3.05e-03 | 2.62e-02 | 9 |
GO:19900896 | Breast | Precancer | response to nerve growth factor | 9/1080 | 56/18723 | 4.47e-03 | 3.47e-02 | 9 |
GO:004860812 | Breast | IDC | reproductive structure development | 60/1434 | 424/18723 | 2.71e-06 | 1.03e-04 | 60 |
GO:006145813 | Breast | IDC | reproductive system development | 60/1434 | 427/18723 | 3.41e-06 | 1.24e-04 | 60 |
GO:000189013 | Breast | IDC | placenta development | 25/1434 | 144/18723 | 9.19e-05 | 1.78e-03 | 25 |
GO:000189213 | Breast | IDC | embryonic placenta development | 16/1434 | 82/18723 | 4.28e-04 | 5.84e-03 | 16 |
GO:199008912 | Breast | IDC | response to nerve growth factor | 11/1434 | 56/18723 | 3.08e-03 | 2.61e-02 | 11 |
GO:000170113 | Breast | IDC | in utero embryonic development | 42/1434 | 367/18723 | 5.85e-03 | 4.24e-02 | 42 |
GO:004860821 | Breast | DCIS | reproductive structure development | 57/1390 | 424/18723 | 9.06e-06 | 2.45e-04 | 57 |
GO:006145822 | Breast | DCIS | reproductive system development | 57/1390 | 427/18723 | 1.12e-05 | 2.92e-04 | 57 |
GO:000189022 | Breast | DCIS | placenta development | 25/1390 | 144/18723 | 5.57e-05 | 1.13e-03 | 25 |
GO:000189221 | Breast | DCIS | embryonic placenta development | 16/1390 | 82/18723 | 3.02e-04 | 4.38e-03 | 16 |
GO:199008922 | Breast | DCIS | response to nerve growth factor | 11/1390 | 56/18723 | 2.42e-03 | 2.18e-02 | 11 |
GO:000170122 | Breast | DCIS | in utero embryonic development | 41/1390 | 367/18723 | 5.74e-03 | 4.13e-02 | 41 |
GO:00018908 | Cervix | CC | placenta development | 40/2311 | 144/18723 | 4.59e-07 | 1.77e-05 | 40 |
TF | Cell Type | Tissue | Disease Stage | Target Gene | RSS | Regulon Activity |
BPTF | CD8TEFF | Breast | IDC | PLCG2,DDX17,SYNE2, etc. | 7.55e-02 | |
BPTF | ASC | Colorectum | SER | ARL17B,HNF1A-AS1,MT-ATP8, etc. | 1.20e-01 | |
BPTF | CD8TEXINT | Stomach | CAG | GRAMD2B,MCTP2,PACS1, etc. | 1.82e-02 | |
BPTF | CD4TN | Stomach | CAG | GRAMD2B,MCTP2,PACS1, etc. | 1.17e-02 | |
BPTF | CD4TN | Stomach | CSG | GRAMD2B,MCTP2,PACS1, etc. | 8.54e-02 | |
BPTF | MAIT | Stomach | SIM | GRAMD2B,MCTP2,PACS1, etc. | 4.20e-02 | |
BPTF | LYMEND | Stomach | ADJ | PHF14,PLA2G2A,MT-ND2, etc. | 1.50e-02 | |
BPTF | MVA | Stomach | CAG | PHF14,PLA2G2A,MT-ND2, etc. | 6.16e-02 | |
BPTF | CAF | Stomach | CSG | PHF14,PLA2G2A,MT-ND2, etc. | 1.16e-01 | |
BPTF | MVA | Stomach | Healthy | PHF14,PLA2G2A,MT-ND2, etc. | 3.92e-02 | |
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 |
BPTF | SNV | Missense_Mutation | novel | c.4178G>A | p.Arg1393Gln | p.R1393Q | Q12830 | protein_coding | tolerated_low_confidence(0.46) | benign(0.121) | TCGA-EO-A22U-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
BPTF | SNV | Missense_Mutation | novel | c.3640N>G | p.Phe1214Val | p.F1214V | Q12830 | protein_coding | tolerated_low_confidence(0.69) | benign(0.001) | TCGA-EO-A22X-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unspecific | Carboplatin | Complete Response |
BPTF | SNV | Missense_Mutation | rs201720584 | c.3058G>A | p.Asp1020Asn | p.D1020N | Q12830 | protein_coding | deleterious(0.01) | benign(0.282) | TCGA-EO-A3AV-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | carboplatin | CR |
BPTF | SNV | Missense_Mutation | novel | c.6329A>C | p.Asn2110Thr | p.N2110T | Q12830 | protein_coding | tolerated(0.15) | benign(0.031) | TCGA-EO-A3AV-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | carboplatin | CR |
BPTF | SNV | Missense_Mutation | novel | c.4172N>G | p.Glu1391Gly | p.E1391G | Q12830 | protein_coding | tolerated_low_confidence(0.09) | probably_damaging(0.91) | TCGA-EO-A3B0-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
BPTF | SNV | Missense_Mutation | novel | c.2369A>G | p.Asn790Ser | p.N790S | Q12830 | protein_coding | tolerated(0.11) | probably_damaging(0.948) | TCGA-EO-A3KX-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
BPTF | SNV | Missense_Mutation | novel | c.3842G>A | p.Cys1281Tyr | p.C1281Y | Q12830 | protein_coding | tolerated_low_confidence(0.97) | benign(0.003) | TCGA-EO-A3KX-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
BPTF | SNV | Missense_Mutation | novel | c.6419N>T | p.Pro2140Leu | p.P2140L | Q12830 | protein_coding | deleterious(0) | probably_damaging(0.994) | TCGA-EY-A2OO-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Chemotherapy | taxol | SD |
BPTF | SNV | Missense_Mutation | novel | c.605N>T | p.Ser202Ile | p.S202I | Q12830 | protein_coding | deleterious(0) | probably_damaging(0.983) | TCGA-FI-A2D5-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | carboplatinum | PD |
BPTF | SNV | Missense_Mutation | novel | c.2855N>A | p.Arg952Lys | p.R952K | Q12830 | protein_coding | tolerated(0.18) | possibly_damaging(0.786) | TCGA-FI-A2D5-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | carboplatinum | PD |