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:000756511 | Breast | IDC | female pregnancy | 39/1434 | 193/18723 | 1.81e-08 | 1.27e-06 | 39 |
GO:00447061 | Breast | IDC | multi-multicellular organism process | 41/1434 | 220/18723 | 8.58e-08 | 5.19e-06 | 41 |
GO:004873214 | Breast | IDC | gland development | 64/1434 | 436/18723 | 3.47e-07 | 1.74e-05 | 64 |
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:00601352 | Breast | IDC | maternal process involved in female pregnancy | 16/1434 | 62/18723 | 1.20e-05 | 3.17e-04 | 16 |
GO:000189013 | Breast | IDC | placenta development | 25/1434 | 144/18723 | 9.19e-05 | 1.78e-03 | 25 |
GO:00018933 | Breast | IDC | maternal placenta development | 10/1434 | 35/18723 | 2.09e-04 | 3.41e-03 | 10 |
GO:0046697 | Breast | IDC | decidualization | 8/1434 | 26/18723 | 5.19e-04 | 6.75e-03 | 8 |
GO:00507271 | Breast | IDC | regulation of inflammatory response | 48/1434 | 386/18723 | 5.99e-04 | 7.54e-03 | 48 |
GO:00431227 | Breast | IDC | regulation of I-kappaB kinase/NF-kappaB signaling | 34/1434 | 249/18723 | 7.18e-04 | 8.77e-03 | 34 |
GO:000724914 | Breast | IDC | I-kappaB kinase/NF-kappaB signaling | 37/1434 | 281/18723 | 8.58e-04 | 9.98e-03 | 37 |
GO:00435883 | Breast | IDC | skin development | 33/1434 | 263/18723 | 3.46e-03 | 2.87e-02 | 33 |
GO:000252611 | Breast | IDC | acute inflammatory response | 17/1434 | 112/18723 | 5.00e-03 | 3.77e-02 | 17 |
GO:00075652 | Breast | DCIS | female pregnancy | 37/1390 | 193/18723 | 7.85e-08 | 4.47e-06 | 37 |
GO:00447062 | Breast | DCIS | multi-multicellular organism process | 39/1390 | 220/18723 | 3.05e-07 | 1.46e-05 | 39 |
GO:004873223 | Breast | DCIS | gland development | 60/1390 | 436/18723 | 2.50e-06 | 8.74e-05 | 60 |
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:006013511 | Breast | DCIS | maternal process involved in female pregnancy | 15/1390 | 62/18723 | 3.55e-05 | 7.70e-04 | 15 |
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 | rs776090224 | c.7604N>A | p.Arg2535Gln | p.R2535Q | Q9NR48 | protein_coding | deleterious_low_confidence(0) | probably_damaging(0.997) | TCGA-55-8506-01 | Lung | lung adenocarcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
ASH1L | SNV | Missense_Mutation | novel | c.2535N>T | p.Arg845Ser | p.R845S | Q9NR48 | protein_coding | tolerated_low_confidence(0.12) | benign(0.301) | TCGA-55-8506-01 | Lung | lung adenocarcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
ASH1L | SNV | Missense_Mutation | | c.1518N>G | p.Phe506Leu | p.F506L | Q9NR48 | protein_coding | deleterious_low_confidence(0.04) | benign(0.025) | TCGA-62-A46O-01 | Lung | lung adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
ASH1L | SNV | Missense_Mutation | | c.6754N>T | p.Thr2252Ser | p.T2252S | Q9NR48 | protein_coding | tolerated_low_confidence(0.07) | probably_damaging(0.966) | TCGA-69-7765-01 | Lung | lung adenocarcinoma | Male | <65 | III/IV | Chemotherapy | carboplatin | SD |
ASH1L | SNV | Missense_Mutation | | c.7166N>T | p.Tyr2389Phe | p.Y2389F | Q9NR48 | protein_coding | deleterious_low_confidence(0.03) | benign(0.367) | TCGA-69-7979-01 | Lung | lung adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
ASH1L | SNV | Missense_Mutation | novel | c.7630N>A | p.Glu2544Lys | p.E2544K | Q9NR48 | protein_coding | deleterious_low_confidence(0.01) | benign(0.331) | TCGA-73-4658-01 | Lung | lung adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
ASH1L | SNV | Missense_Mutation | novel | c.2828N>T | p.Gln943Leu | p.Q943L | Q9NR48 | protein_coding | tolerated_low_confidence(0.06) | benign(0.024) | TCGA-73-A9RS-01 | Lung | lung adenocarcinoma | Male | <65 | I/II | Chemotherapy | carboplatin | PD |
ASH1L | SNV | Missense_Mutation | novel | c.4625N>C | p.His1542Pro | p.H1542P | Q9NR48 | protein_coding | deleterious_low_confidence(0) | probably_damaging(0.994) | TCGA-78-7155-01 | Lung | lung adenocarcinoma | Male | >=65 | I/II | Chemotherapy | carboplatin | PD |
ASH1L | SNV | Missense_Mutation | | c.3808N>G | p.Arg1270Gly | p.R1270G | Q9NR48 | protein_coding | deleterious_low_confidence(0) | probably_damaging(0.997) | TCGA-86-7955-01 | Lung | lung adenocarcinoma | Male | <65 | I/II | Chemotherapy | etoposide | PD |
ASH1L | SNV | Missense_Mutation | | c.2135G>C | p.Arg712Thr | p.R712T | Q9NR48 | protein_coding | deleterious_low_confidence(0) | probably_damaging(0.985) | TCGA-86-8278-01 | Lung | lung adenocarcinoma | Female | <65 | I/II | Chemotherapy | etoposide | SD |