Tissue | Expression Dynamics | Abbreviation |
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:00309019 | Cervix | CC | midbrain development | 26/2311 | 90/18723 | 2.12e-05 | 3.82e-04 | 26 |
GO:002176210 | Cervix | CC | substantia nigra development | 16/2311 | 44/18723 | 3.81e-05 | 5.99e-04 | 16 |
GO:00488579 | Cervix | CC | neural nucleus development | 18/2311 | 64/18723 | 5.42e-04 | 5.23e-03 | 18 |
GO:0021762 | Colorectum | AD | substantia nigra development | 21/3918 | 44/18723 | 6.60e-05 | 1.07e-03 | 21 |
GO:0048857 | Colorectum | AD | neural nucleus development | 27/3918 | 64/18723 | 9.57e-05 | 1.45e-03 | 27 |
GO:0030901 | Colorectum | AD | midbrain development | 32/3918 | 90/18723 | 9.45e-04 | 8.95e-03 | 32 |
GO:00217621 | Colorectum | SER | substantia nigra development | 21/2897 | 44/18723 | 4.77e-07 | 2.40e-05 | 21 |
GO:00488571 | Colorectum | SER | neural nucleus development | 26/2897 | 64/18723 | 1.09e-06 | 5.11e-05 | 26 |
GO:00309011 | Colorectum | SER | midbrain development | 29/2897 | 90/18723 | 5.50e-05 | 1.30e-03 | 29 |
GO:00217622 | Colorectum | MSS | substantia nigra development | 21/3467 | 44/18723 | 9.54e-06 | 2.33e-04 | 21 |
GO:00488572 | Colorectum | MSS | neural nucleus development | 26/3467 | 64/18723 | 3.19e-05 | 6.30e-04 | 26 |
GO:00309012 | Colorectum | MSS | midbrain development | 31/3467 | 90/18723 | 2.36e-04 | 3.24e-03 | 31 |
GO:00217624 | Colorectum | FAP | substantia nigra development | 15/2622 | 44/18723 | 6.22e-04 | 6.82e-03 | 15 |
GO:00488574 | Colorectum | FAP | neural nucleus development | 19/2622 | 64/18723 | 8.94e-04 | 9.08e-03 | 19 |
GO:00309014 | Colorectum | FAP | midbrain development | 24/2622 | 90/18723 | 1.12e-03 | 1.08e-02 | 24 |
GO:00488575 | Colorectum | CRC | neural nucleus development | 17/2078 | 64/18723 | 4.59e-04 | 6.70e-03 | 17 |
GO:00217625 | Colorectum | CRC | substantia nigra development | 13/2078 | 44/18723 | 7.05e-04 | 9.17e-03 | 13 |
GO:00309015 | Colorectum | CRC | midbrain development | 21/2078 | 90/18723 | 7.06e-04 | 9.17e-03 | 21 |
GO:0021762111 | Esophagus | ESCC | substantia nigra development | 35/8552 | 44/18723 | 4.40e-06 | 4.69e-05 | 35 |
GO:004885718 | Esophagus | ESCC | neural nucleus development | 44/8552 | 64/18723 | 1.59e-04 | 1.05e-03 | 44 |
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 |
ZNF148 | SNV | Missense_Mutation | | c.1333N>A | p.Asp445Asn | p.D445N | Q9UQR1 | protein_coding | deleterious(0.01) | benign(0.435) | TCGA-A8-A0A7-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
ZNF148 | SNV | Missense_Mutation | novel | c.2326N>A | p.Asp776Asn | p.D776N | Q9UQR1 | protein_coding | deleterious(0.02) | benign(0.023) | TCGA-AC-A23H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
ZNF148 | SNV | Missense_Mutation | | c.304N>G | p.Gln102Glu | p.Q102E | Q9UQR1 | protein_coding | tolerated(0.38) | benign(0.122) | TCGA-AC-A23H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
ZNF148 | SNV | Missense_Mutation | | c.740N>T | p.Arg247Ile | p.R247I | Q9UQR1 | protein_coding | deleterious(0) | probably_damaging(0.997) | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
ZNF148 | SNV | Missense_Mutation | | c.2132N>T | p.Ser711Phe | p.S711F | Q9UQR1 | protein_coding | deleterious(0.01) | benign(0) | TCGA-D8-A1JP-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | tamoxiphen | SD |
ZNF148 | insertion | Frame_Shift_Ins | novel | c.1856_1857insA | p.Asn619LysfsTer2 | p.N619Kfs*2 | Q9UQR1 | protein_coding | | | TCGA-C8-A1HN-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
ZNF148 | SNV | Missense_Mutation | rs762634520 | c.1423C>T | p.Arg475Trp | p.R475W | Q9UQR1 | protein_coding | deleterious(0) | benign(0.005) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
ZNF148 | SNV | Missense_Mutation | novel | c.1142C>T | p.Ala381Val | p.A381V | Q9UQR1 | protein_coding | tolerated(0.2) | benign(0.012) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
ZNF148 | SNV | Missense_Mutation | | c.1669N>A | p.Glu557Lys | p.E557K | Q9UQR1 | protein_coding | deleterious(0.01) | possibly_damaging(0.506) | TCGA-BI-A0VS-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
ZNF148 | SNV | Missense_Mutation | | c.2373N>C | p.Gln791His | p.Q791H | Q9UQR1 | protein_coding | deleterious(0) | possibly_damaging(0.737) | TCGA-C5-A1M6-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | PD |