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 |
Endometrium | | AEH: Atypical endometrial hyperplasia |
EEC: Endometrioid 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 |
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:190289312 | Liver | HCC | regulation of pri-miRNA transcription by RNA polymerase II | 34/7958 | 54/18723 | 1.92e-03 | 9.78e-03 | 34 |
GO:00303012 | Liver | HCC | cholesterol transport | 65/7958 | 117/18723 | 2.95e-03 | 1.38e-02 | 65 |
GO:00108832 | Liver | HCC | regulation of lipid storage | 35/7958 | 57/18723 | 3.08e-03 | 1.43e-02 | 35 |
GO:00159182 | Liver | HCC | sterol transport | 71/7958 | 130/18723 | 3.49e-03 | 1.58e-02 | 71 |
GO:0010878 | Liver | HCC | cholesterol storage | 15/7958 | 21/18723 | 7.03e-03 | 2.80e-02 | 15 |
GO:007259418 | Oral cavity | OSCC | establishment of protein localization to organelle | 284/7305 | 422/18723 | 1.50e-32 | 1.35e-29 | 284 |
GO:002241119 | Oral cavity | OSCC | cellular component disassembly | 283/7305 | 443/18723 | 9.57e-27 | 3.37e-24 | 283 |
GO:003238615 | Oral cavity | OSCC | regulation of intracellular transport | 218/7305 | 337/18723 | 6.91e-22 | 1.41e-19 | 218 |
GO:000660520 | Oral cavity | OSCC | protein targeting | 204/7305 | 314/18723 | 6.78e-21 | 1.13e-18 | 204 |
GO:003315718 | Oral cavity | OSCC | regulation of intracellular protein transport | 155/7305 | 229/18723 | 1.05e-18 | 1.28e-16 | 155 |
GO:190382920 | Oral cavity | OSCC | positive regulation of cellular protein localization | 179/7305 | 276/18723 | 2.20e-18 | 2.41e-16 | 179 |
GO:001050610 | Oral cavity | OSCC | regulation of autophagy | 198/7305 | 317/18723 | 1.63e-17 | 1.51e-15 | 198 |
GO:190495119 | Oral cavity | OSCC | positive regulation of establishment of protein localization | 196/7305 | 319/18723 | 2.89e-16 | 2.20e-14 | 196 |
GO:005122219 | Oral cavity | OSCC | positive regulation of protein transport | 187/7305 | 303/18723 | 7.37e-16 | 5.49e-14 | 187 |
GO:000683918 | Oral cavity | OSCC | mitochondrial transport | 162/7305 | 254/18723 | 8.96e-16 | 6.52e-14 | 162 |
GO:003238818 | Oral cavity | OSCC | positive regulation of intracellular transport | 134/7305 | 202/18723 | 2.82e-15 | 1.88e-13 | 134 |
GO:19030088 | Oral cavity | OSCC | organelle disassembly | 85/7305 | 114/18723 | 1.15e-14 | 6.93e-13 | 85 |
GO:007058518 | Oral cavity | OSCC | protein localization to mitochondrion | 91/7305 | 125/18723 | 1.60e-14 | 9.27e-13 | 91 |
GO:009031610 | Oral cavity | OSCC | positive regulation of intracellular protein transport | 110/7305 | 160/18723 | 2.10e-14 | 1.19e-12 | 110 |
GO:007265518 | Oral cavity | OSCC | establishment of protein localization to mitochondrion | 88/7305 | 120/18723 | 2.10e-14 | 1.19e-12 | 88 |
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 |
SREBF2 | SNV | Missense_Mutation | | c.1412N>T | p.Pro471Leu | p.P471L | Q12772 | protein_coding | deleterious(0.02) | benign(0.154) | TCGA-BH-A0HF-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | arimidex | SD |
SREBF2 | SNV | Missense_Mutation | rs147747695 | c.2562N>A | p.Met854Ile | p.M854I | Q12772 | protein_coding | deleterious(0.04) | benign(0) | TCGA-BH-A0HP-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Chemotherapy | doxorubicin | SD |
SREBF2 | SNV | Missense_Mutation | | c.1334N>G | p.Ser445Cys | p.S445C | Q12772 | protein_coding | deleterious(0) | probably_damaging(0.997) | TCGA-BH-A18U-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Unknown | Unknown | SD |
SREBF2 | insertion | Frame_Shift_Ins | novel | c.653_654insAAAAATTAGC | p.Thr219LysfsTer99 | p.T219Kfs*99 | Q12772 | protein_coding | | | TCGA-A8-A07J-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | 5-fluorouracil | CR |
SREBF2 | insertion | Nonsense_Mutation | novel | c.1267_1268insGATTAACCCAGGAAGAGTCTCAGACCTCATGAAGTACTGCC | p.Asp423GlyfsTer11 | p.D423Gfs*11 | Q12772 | protein_coding | | | TCGA-A8-A08H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
SREBF2 | deletion | Frame_Shift_Del | novel | c.1435delC | p.Arg479AlafsTer19 | p.R479Afs*19 | Q12772 | protein_coding | | | TCGA-D8-A27V-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | SD |
SREBF2 | deletion | Frame_Shift_Del | novel | c.3047delG | p.Gly1016AlafsTer26 | p.G1016Afs*26 | Q12772 | protein_coding | | | TCGA-EW-A2FV-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | docetaxel | SD |
SREBF2 | SNV | Missense_Mutation | rs200228342 | c.1418N>T | p.Ala473Val | p.A473V | Q12772 | protein_coding | deleterious(0.02) | benign(0.266) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
SREBF2 | SNV | Missense_Mutation | | c.2674G>A | p.Asp892Asn | p.D892N | Q12772 | protein_coding | deleterious(0) | probably_damaging(0.997) | TCGA-LP-A4AV-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
SREBF2 | SNV | Missense_Mutation | | c.2661N>T | p.Trp887Cys | p.W887C | Q12772 | protein_coding | deleterious(0) | probably_damaging(0.998) | TCGA-ZJ-AAXD-01 | Cervix | cervical & endocervical cancer | Female | <65 | III/IV | Unknown | Unknown | SD |