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:000189022 | Breast | DCIS | placenta development | 25/1390 | 144/18723 | 5.57e-05 | 1.13e-03 | 25 |
GO:000189311 | Breast | DCIS | maternal placenta development | 10/1390 | 35/18723 | 1.62e-04 | 2.71e-03 | 10 |
GO:00466971 | Breast | DCIS | decidualization | 8/1390 | 26/18723 | 4.21e-04 | 5.66e-03 | 8 |
GO:00507272 | Breast | DCIS | regulation of inflammatory response | 46/1390 | 386/18723 | 9.91e-04 | 1.10e-02 | 46 |
GO:004312214 | Breast | DCIS | regulation of I-kappaB kinase/NF-kappaB signaling | 32/1390 | 249/18723 | 1.67e-03 | 1.66e-02 | 32 |
GO:000724923 | Breast | DCIS | I-kappaB kinase/NF-kappaB signaling | 35/1390 | 281/18723 | 1.80e-03 | 1.74e-02 | 35 |
GO:00321021 | Breast | DCIS | negative regulation of response to external stimulus | 46/1390 | 420/18723 | 5.19e-03 | 3.81e-02 | 46 |
GO:004358812 | Breast | DCIS | skin development | 31/1390 | 263/18723 | 7.15e-03 | 4.85e-02 | 31 |
GO:00435884 | Cervix | CC | skin development | 71/2311 | 263/18723 | 8.04e-11 | 1.46e-08 | 71 |
GO:00018908 | Cervix | CC | placenta development | 40/2311 | 144/18723 | 4.59e-07 | 1.77e-05 | 40 |
GO:00614588 | Cervix | CC | reproductive system development | 87/2311 | 427/18723 | 1.37e-06 | 4.55e-05 | 87 |
GO:00486088 | Cervix | CC | reproductive structure development | 86/2311 | 424/18723 | 1.90e-06 | 5.97e-05 | 86 |
GO:004873210 | Cervix | CC | gland development | 84/2311 | 436/18723 | 1.93e-05 | 3.54e-04 | 84 |
GO:00507273 | Cervix | CC | regulation of inflammatory response | 75/2311 | 386/18723 | 3.95e-05 | 6.18e-04 | 75 |
GO:00431228 | Cervix | CC | regulation of I-kappaB kinase/NF-kappaB signaling | 53/2311 | 249/18723 | 4.50e-05 | 6.87e-04 | 53 |
GO:00075654 | Cervix | CC | female pregnancy | 43/2311 | 193/18723 | 7.62e-05 | 1.04e-03 | 43 |
GO:00104525 | Cervix | CC | histone H3-K36 methylation | 8/2311 | 15/18723 | 1.53e-04 | 1.85e-03 | 8 |
GO:00165705 | Cervix | CC | histone modification | 84/2311 | 463/18723 | 1.70e-04 | 2.01e-03 | 84 |
GO:00072497 | Cervix | CC | I-kappaB kinase/NF-kappaB signaling | 56/2311 | 281/18723 | 1.81e-04 | 2.12e-03 | 56 |
GO:00447064 | Cervix | CC | multi-multicellular organism process | 45/2311 | 220/18723 | 4.14e-04 | 4.21e-03 | 45 |
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 |
ASH1L | SNV | Missense_Mutation | novel | c.6979N>A | p.Glu2327Lys | p.E2327K | Q9NR48 | protein_coding | tolerated_low_confidence(0.07) | possibly_damaging(0.765) | TCGA-A2-A0YG-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | cytoxan | SD |
ASH1L | SNV | Missense_Mutation | | c.5070G>C | p.Glu1690Asp | p.E1690D | Q9NR48 | protein_coding | tolerated_low_confidence(0.06) | probably_damaging(0.953) | TCGA-A2-A25A-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unspecific | Cytoxan | SD |
ASH1L | SNV | Missense_Mutation | | c.3673C>T | p.His1225Tyr | p.H1225Y | Q9NR48 | protein_coding | tolerated_low_confidence(0.35) | possibly_damaging(0.548) | TCGA-A7-A26F-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | taxotere | SD |
ASH1L | SNV | Missense_Mutation | | c.865N>G | p.Lys289Glu | p.K289E | Q9NR48 | protein_coding | deleterious_low_confidence(0) | probably_damaging(0.953) | TCGA-A7-A26I-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | cytoxan | SD |
ASH1L | SNV | Missense_Mutation | | c.4486N>C | p.Glu1496Gln | p.E1496Q | Q9NR48 | protein_coding | deleterious_low_confidence(0.01) | possibly_damaging(0.785) | TCGA-A8-A06Q-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
ASH1L | SNV | Missense_Mutation | | c.3580G>A | p.Asp1194Asn | p.D1194N | Q9NR48 | protein_coding | deleterious_low_confidence(0) | possibly_damaging(0.873) | TCGA-AC-A23H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
ASH1L | SNV | Missense_Mutation | rs867128307 | c.1777G>A | p.Glu593Lys | p.E593K | Q9NR48 | protein_coding | deleterious_low_confidence(0.02) | benign(0.281) | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
ASH1L | SNV | Missense_Mutation | | c.4970N>C | p.Val1657Ala | p.V1657A | Q9NR48 | protein_coding | tolerated_low_confidence(0.18) | benign(0.003) | TCGA-AN-A0AK-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
ASH1L | SNV | Missense_Mutation | | c.1366N>G | p.Leu456Val | p.L456V | Q9NR48 | protein_coding | deleterious_low_confidence(0.02) | benign(0) | TCGA-AO-A03O-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | doxorubicin | SD |
ASH1L | SNV | Missense_Mutation | novel | c.3368N>T | p.Ser1123Ile | p.S1123I | Q9NR48 | protein_coding | deleterious_low_confidence(0.01) | probably_damaging(0.996) | TCGA-B6-A0I5-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |