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:003090132 | Oral cavity | NEOLP | midbrain development | 19/2005 | 90/18723 | 2.81e-03 | 1.73e-02 | 19 |
GO:002176217 | Prostate | BPH | substantia nigra development | 23/3107 | 44/18723 | 5.88e-08 | 1.57e-06 | 23 |
GO:003090114 | Prostate | BPH | midbrain development | 36/3107 | 90/18723 | 1.02e-07 | 2.49e-06 | 36 |
GO:004885715 | Prostate | BPH | neural nucleus development | 28/3107 | 64/18723 | 2.93e-07 | 6.23e-06 | 28 |
GO:002176218 | Prostate | Tumor | substantia nigra development | 23/3246 | 44/18723 | 1.35e-07 | 3.45e-06 | 23 |
GO:003090115 | Prostate | Tumor | midbrain development | 36/3246 | 90/18723 | 3.15e-07 | 7.14e-06 | 36 |
GO:004885716 | Prostate | Tumor | neural nucleus development | 28/3246 | 64/18723 | 7.39e-07 | 1.47e-05 | 28 |
GO:003090119 | Skin | AK | midbrain development | 19/1910 | 90/18723 | 1.61e-03 | 1.15e-02 | 19 |
GO:002176225 | Skin | cSCC | substantia nigra development | 27/4864 | 44/18723 | 7.90e-07 | 1.46e-05 | 27 |
GO:0030901110 | Skin | cSCC | midbrain development | 45/4864 | 90/18723 | 8.81e-07 | 1.63e-05 | 45 |
GO:004885719 | Skin | cSCC | neural nucleus development | 28/4864 | 64/18723 | 1.52e-03 | 9.52e-03 | 28 |
GO:0021762112 | Thyroid | PTC | substantia nigra development | 31/5968 | 44/18723 | 1.70e-07 | 3.19e-06 | 31 |
GO:0030901111 | Thyroid | PTC | midbrain development | 48/5968 | 90/18723 | 1.95e-05 | 1.99e-04 | 48 |
GO:0048857110 | Thyroid | PTC | neural nucleus development | 34/5968 | 64/18723 | 3.38e-04 | 2.33e-03 | 34 |
GO:002176233 | Thyroid | ATC | substantia nigra development | 32/6293 | 44/18723 | 1.28e-07 | 2.12e-06 | 32 |
GO:003090133 | Thyroid | ATC | midbrain development | 51/6293 | 90/18723 | 5.79e-06 | 6.13e-05 | 51 |
GO:004885732 | Thyroid | ATC | neural nucleus development | 35/6293 | 64/18723 | 4.15e-04 | 2.50e-03 | 35 |
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 |