Tissue | Expression Dynamics | Abbreviation |
Cervix | ![The image shows the transcriptomic changes along malignancy continuum.log2FC in expression of this searched gene in stem-like cells from each diseased tissue sample relative to stem-like cells in normal samples in each tissue plotted against the malignancy continuum. Samples are colored based on if they are from different disease stage.](images/deg_images/Cervix/SREBF2_pca_on_diff_genes.png) | CC: Cervix cancer |
HSIL_HPV: HPV-infected high-grade squamous intraepithelial lesions |
N_HPV: HPV-infected normal cervix |
Colorectum (GSE201348) | ![The image shows the transcriptomic changes along malignancy continuum.log2FC in expression of this searched gene in stem-like cells from each diseased tissue sample relative to stem-like cells in normal samples in each tissue plotted against the malignancy continuum. Samples are colored based on if they are from different disease stage.](images/deg_images/Colorectum/Becker/SREBF2_pca_on_diff_genes.png) | FAP: Familial adenomatous polyposis |
CRC: Colorectal cancer |
Colorectum (HTA11) | ![The image shows the transcriptomic changes along malignancy continuum.log2FC in expression of this searched gene in stem-like cells from each diseased tissue sample relative to stem-like cells in normal samples in each tissue plotted against the malignancy continuum. Samples are colored based on if they are from different disease stage.](images/deg_images/Colorectum/Chen/SREBF2_pca_on_diff_genes.png) | AD: Adenomas |
SER: Sessile serrated lesions |
MSI-H: Microsatellite-high colorectal cancer |
MSS: Microsatellite stable colorectal cancer |
Endometrium | ![The image shows the transcriptomic changes along malignancy continuum.log2FC in expression of this searched gene in stem-like cells from each diseased tissue sample relative to stem-like cells in normal samples in each tissue plotted against the malignancy continuum. Samples are colored based on if they are from different disease stage.](images/deg_images/Endometrium/SREBF2_pca_on_diff_genes.png) | AEH: Atypical endometrial hyperplasia |
EEC: Endometrioid Cancer |
Esophagus | ![The image shows the transcriptomic changes along malignancy continuum.log2FC in expression of this searched gene in stem-like cells from each diseased tissue sample relative to stem-like cells in normal samples in each tissue plotted against the malignancy continuum. Samples are colored based on if they are from different disease stage.](images/deg_images/Esophagus/SREBF2_pca_on_diff_genes.png) | ESCC: Esophageal squamous cell carcinoma |
HGIN: High-grade intraepithelial neoplasias |
LGIN: Low-grade intraepithelial neoplasias |
Liver | ![The image shows the transcriptomic changes along malignancy continuum.log2FC in expression of this searched gene in stem-like cells from each diseased tissue sample relative to stem-like cells in normal samples in each tissue plotted against the malignancy continuum. Samples are colored based on if they are from different disease stage.](images/deg_images/Liver/SREBF2_pca_on_diff_genes.png) | HCC: Hepatocellular carcinoma |
NAFLD: Non-alcoholic fatty liver disease |
Oral Cavity | ![The image shows the transcriptomic changes along malignancy continuum.log2FC in expression of this searched gene in stem-like cells from each diseased tissue sample relative to stem-like cells in normal samples in each tissue plotted against the malignancy continuum. Samples are colored based on if they are from different disease stage.](images/deg_images/OralCavity/SREBF2_pca_on_diff_genes.png) | EOLP: Erosive Oral lichen planus |
LP: leukoplakia |
NEOLP: Non-erosive oral lichen planus |
OSCC: Oral squamous cell carcinoma |
Prostate | ![The image shows the transcriptomic changes along malignancy continuum.log2FC in expression of this searched gene in stem-like cells from each diseased tissue sample relative to stem-like cells in normal samples in each tissue plotted against the malignancy continuum. Samples are colored based on if they are from different disease stage.](images/deg_images/Prostate/SREBF2_pca_on_diff_genes.png) | BPH: Benign Prostatic Hyperplasia |
Skin | ![The image shows the transcriptomic changes along malignancy continuum.log2FC in expression of this searched gene in stem-like cells from each diseased tissue sample relative to stem-like cells in normal samples in each tissue plotted against the malignancy continuum. Samples are colored based on if they are from different disease stage.](images/deg_images/Skin/SREBF2_pca_on_diff_genes.png) | AK: Actinic keratosis |
cSCC: Cutaneous squamous cell carcinoma |
SCCIS:squamous cell carcinoma in situ |
Thyroid | ![The image shows the transcriptomic changes along malignancy continuum.log2FC in expression of this searched gene in stem-like cells from each diseased tissue sample relative to stem-like cells in normal samples in each tissue plotted against the malignancy continuum. Samples are colored based on if they are from different disease stage.](images/deg_images/Thyroid/SREBF2_pca_on_diff_genes.png) | 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:003166812 | Liver | HCC | cellular response to extracellular stimulus | 149/7958 | 246/18723 | 7.35e-09 | 1.86e-07 | 149 |
GO:190353311 | Liver | HCC | regulation of protein targeting | 60/7958 | 81/18723 | 7.70e-09 | 1.94e-07 | 60 |
GO:190374711 | Liver | HCC | regulation of establishment of protein localization to mitochondrion | 41/7958 | 50/18723 | 1.14e-08 | 2.83e-07 | 41 |
GO:000698411 | Liver | HCC | ER-nucleus signaling pathway | 38/7958 | 46/18723 | 2.68e-08 | 6.17e-07 | 38 |
GO:004259421 | Liver | HCC | response to starvation | 121/7958 | 197/18723 | 6.08e-08 | 1.28e-06 | 121 |
GO:003166912 | Liver | HCC | cellular response to nutrient levels | 130/7958 | 215/18723 | 7.52e-08 | 1.51e-06 | 130 |
GO:190321411 | Liver | HCC | regulation of protein targeting to mitochondrion | 36/7958 | 44/18723 | 1.02e-07 | 1.98e-06 | 36 |
GO:005123521 | Liver | HCC | maintenance of location | 185/7958 | 327/18723 | 1.70e-07 | 3.12e-06 | 185 |
GO:00550882 | Liver | HCC | lipid homeostasis | 103/7958 | 167/18723 | 4.27e-07 | 7.18e-06 | 103 |
GO:190314611 | Liver | HCC | regulation of autophagy of mitochondrion | 28/7958 | 33/18723 | 6.57e-07 | 1.03e-05 | 28 |
GO:00069911 | Liver | HCC | response to sterol depletion | 17/7958 | 18/18723 | 5.15e-06 | 6.44e-05 | 17 |
GO:000926712 | Liver | HCC | cellular response to starvation | 94/7958 | 156/18723 | 5.61e-06 | 6.95e-05 | 94 |
GO:007150111 | Liver | HCC | cellular response to sterol depletion | 15/7958 | 16/18723 | 2.55e-05 | 2.66e-04 | 15 |
GO:003293311 | Liver | HCC | SREBP signaling pathway | 14/7958 | 15/18723 | 5.65e-05 | 5.26e-04 | 14 |
GO:001087621 | Liver | HCC | lipid localization | 228/7958 | 448/18723 | 1.80e-04 | 1.41e-03 | 228 |
GO:005509221 | Liver | HCC | sterol homeostasis | 59/7958 | 97/18723 | 2.06e-04 | 1.58e-03 | 59 |
GO:004263221 | Liver | HCC | cholesterol homeostasis | 58/7958 | 96/18723 | 2.99e-04 | 2.13e-03 | 58 |
GO:00199152 | Liver | HCC | lipid storage | 53/7958 | 87/18723 | 4.01e-04 | 2.71e-03 | 53 |
GO:006161422 | Liver | HCC | pri-miRNA transcription by RNA polymerase II | 35/7958 | 55/18723 | 1.26e-03 | 6.92e-03 | 35 |
GO:000686921 | Liver | HCC | lipid transport | 198/7958 | 398/18723 | 1.92e-03 | 9.78e-03 | 198 |
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 |