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 |
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:004477216 | Esophagus | ESCC | mitotic cell cycle phase transition | 281/8552 | 424/18723 | 4.63e-18 | 4.45e-16 | 281 |
GO:0070482111 | Esophagus | ESCC | response to oxygen levels | 218/8552 | 347/18723 | 6.91e-11 | 2.17e-09 | 218 |
GO:0043618111 | Esophagus | ESCC | regulation of transcription from RNA polymerase II promoter in response to stress | 42/8552 | 47/18723 | 3.91e-10 | 1.05e-08 | 42 |
GO:0043620111 | Esophagus | ESCC | regulation of DNA-templated transcription in response to stress | 46/8552 | 53/18723 | 5.17e-10 | 1.33e-08 | 46 |
GO:0036293111 | Esophagus | ESCC | response to decreased oxygen levels | 201/8552 | 322/18723 | 8.37e-10 | 2.04e-08 | 201 |
GO:0001666111 | Esophagus | ESCC | response to hypoxia | 192/8552 | 307/18723 | 1.59e-09 | 3.69e-08 | 192 |
GO:00448394 | Esophagus | ESCC | cell cycle G2/M phase transition | 103/8552 | 148/18723 | 3.09e-09 | 6.67e-08 | 103 |
GO:00000864 | Esophagus | ESCC | G2/M transition of mitotic cell cycle | 96/8552 | 137/18723 | 6.00e-09 | 1.23e-07 | 96 |
GO:0071453110 | Esophagus | ESCC | cellular response to oxygen levels | 114/8552 | 177/18723 | 3.63e-07 | 5.06e-06 | 114 |
GO:000008214 | Esophagus | ESCC | G1/S transition of mitotic cell cycle | 134/8552 | 214/18723 | 4.04e-07 | 5.55e-06 | 134 |
GO:0036294110 | Esophagus | ESCC | cellular response to decreased oxygen levels | 105/8552 | 161/18723 | 4.20e-07 | 5.73e-06 | 105 |
GO:004484314 | Esophagus | ESCC | cell cycle G1/S phase transition | 148/8552 | 241/18723 | 5.68e-07 | 7.48e-06 | 148 |
GO:007145616 | Esophagus | ESCC | cellular response to hypoxia | 97/8552 | 151/18723 | 3.12e-06 | 3.51e-05 | 97 |
GO:00614184 | Esophagus | ESCC | regulation of transcription from RNA polymerase II promoter in response to hypoxia | 13/8552 | 13/18723 | 3.75e-05 | 3.04e-04 | 13 |
GO:0044772 | Liver | NAFLD | mitotic cell cycle phase transition | 67/1882 | 424/18723 | 1.25e-04 | 2.39e-03 | 67 |
GO:0044843 | Liver | NAFLD | cell cycle G1/S phase transition | 43/1882 | 241/18723 | 1.40e-04 | 2.63e-03 | 43 |
GO:0000082 | Liver | NAFLD | G1/S transition of mitotic cell cycle | 39/1882 | 214/18723 | 1.78e-04 | 3.14e-03 | 39 |
GO:00436207 | Liver | NAFLD | regulation of DNA-templated transcription in response to stress | 14/1882 | 53/18723 | 5.66e-04 | 7.59e-03 | 14 |
GO:00436187 | Liver | NAFLD | regulation of transcription from RNA polymerase II promoter in response to stress | 11/1882 | 47/18723 | 5.92e-03 | 4.47e-02 | 11 |
GO:00447722 | Liver | HCC | mitotic cell cycle phase transition | 240/7958 | 424/18723 | 2.47e-09 | 6.84e-08 | 240 |
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 |
BACH1 | SNV | Missense_Mutation | | c.1220N>A | p.Ser407Asn | p.S407N | O14867 | protein_coding | tolerated(0.46) | benign(0.003) | TCGA-AN-A0AK-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
BACH1 | SNV | Missense_Mutation | | c.1262C>T | p.Ala421Val | p.A421V | O14867 | protein_coding | tolerated(0.33) | benign(0.007) | TCGA-AR-A1AQ-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | SD |
BACH1 | insertion | In_Frame_Ins | novel | c.1395_1396insGTATCA | p.Ser465_Thr466insValSer | p.S465_T466insVS | O14867 | protein_coding | | | TCGA-A2-A0D1-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | taxotere | SD |
BACH1 | insertion | Nonsense_Mutation | novel | c.1397_1398insAGGTGACAGTTAAAGGATTTGAACCTTTAAT | p.Leu467GlyfsTer4 | p.L467Gfs*4 | O14867 | protein_coding | | | TCGA-A2-A0D1-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | taxotere | SD |
BACH1 | insertion | Nonsense_Mutation | novel | c.605_606insATCACTTTTAAAAATCTGAATCTTTAAAACTTTTACTGTTAGGAA | p.Ser202delinsArgSerLeuLeuLysIleTerIlePheLysThrPheThrValArgAsn | p.S202delinsRSLLKI*IFKTFTVRN | O14867 | protein_coding | | | TCGA-A8-A06X-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
BACH1 | insertion | Nonsense_Mutation | novel | c.517_518insAGAGAGATATG | p.Phe173Ter | p.F173* | O14867 | protein_coding | | | TCGA-AR-A0U0-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
BACH1 | SNV | Missense_Mutation | | c.1946N>T | p.Ser649Leu | p.S649L | O14867 | protein_coding | tolerated(0.1) | benign(0.212) | TCGA-DG-A2KH-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
BACH1 | SNV | Missense_Mutation | | c.965C>G | p.Ser322Cys | p.S322C | O14867 | protein_coding | deleterious(0.01) | possibly_damaging(0.533) | TCGA-EK-A2H0-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
BACH1 | SNV | Missense_Mutation | | c.1756N>A | p.Glu586Lys | p.E586K | O14867 | protein_coding | deleterious(0) | probably_damaging(0.916) | TCGA-EK-A2PI-01 | Cervix | cervical & endocervical cancer | Female | <65 | III/IV | Unknown | Unknown | SD |
BACH1 | SNV | Missense_Mutation | rs748491382 | c.1298C>G | p.Ser433Cys | p.S433C | O14867 | protein_coding | deleterious(0) | possibly_damaging(0.751) | TCGA-FU-A40J-01 | Cervix | cervical & endocervical cancer | Female | <65 | III/IV | Chemotherapy | carboplatin | CR |