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:007265519 | Oral cavity | LP | establishment of protein localization to mitochondrion | 68/4623 | 120/18723 | 6.98e-14 | 7.16e-12 | 68 |
GO:003238616 | Oral cavity | LP | regulation of intracellular transport | 145/4623 | 337/18723 | 8.58e-14 | 8.27e-12 | 145 |
GO:003238819 | Oral cavity | LP | positive regulation of intracellular transport | 97/4623 | 202/18723 | 4.79e-13 | 4.30e-11 | 97 |
GO:003315719 | Oral cavity | LP | regulation of intracellular protein transport | 106/4623 | 229/18723 | 7.85e-13 | 6.68e-11 | 106 |
GO:000662619 | Oral cavity | LP | protein targeting to mitochondrion | 58/4623 | 100/18723 | 1.23e-12 | 1.00e-10 | 58 |
GO:0022411110 | Oral cavity | LP | cellular component disassembly | 173/4623 | 443/18723 | 9.97e-12 | 7.44e-10 | 173 |
GO:001050615 | Oral cavity | LP | regulation of autophagy | 132/4623 | 317/18723 | 1.82e-11 | 1.28e-09 | 132 |
GO:1904951110 | Oral cavity | LP | positive regulation of establishment of protein localization | 132/4623 | 319/18723 | 3.06e-11 | 2.00e-09 | 132 |
GO:009031615 | Oral cavity | LP | positive regulation of intracellular protein transport | 78/4623 | 160/18723 | 3.53e-11 | 2.28e-09 | 78 |
GO:190300815 | Oral cavity | LP | organelle disassembly | 60/4623 | 114/18723 | 1.28e-10 | 7.30e-09 | 60 |
GO:0051222110 | Oral cavity | LP | positive regulation of protein transport | 123/4623 | 303/18723 | 6.05e-10 | 2.96e-08 | 123 |
GO:000698415 | Oral cavity | LP | ER-nucleus signaling pathway | 30/4623 | 46/18723 | 7.25e-09 | 2.91e-07 | 30 |
GO:0071496110 | Oral cavity | LP | cellular response to external stimulus | 124/4623 | 320/18723 | 1.44e-08 | 5.36e-07 | 124 |
GO:001082118 | Oral cavity | LP | regulation of mitochondrion organization | 65/4623 | 144/18723 | 6.61e-08 | 2.24e-06 | 65 |
GO:0031667110 | Oral cavity | LP | response to nutrient levels | 165/4623 | 474/18723 | 3.87e-07 | 1.12e-05 | 165 |
GO:000042215 | Oral cavity | LP | autophagy of mitochondrion | 41/4623 | 81/18723 | 4.23e-07 | 1.21e-05 | 41 |
GO:006172615 | Oral cavity | LP | mitochondrion disassembly | 41/4623 | 81/18723 | 4.23e-07 | 1.21e-05 | 41 |
GO:0031668110 | Oral cavity | LP | cellular response to extracellular stimulus | 91/4623 | 246/18723 | 1.07e-05 | 1.94e-04 | 91 |
GO:190353314 | Oral cavity | LP | regulation of protein targeting | 37/4623 | 81/18723 | 3.07e-05 | 4.74e-04 | 37 |
GO:003166919 | Oral cavity | LP | cellular response to nutrient levels | 79/4623 | 215/18723 | 5.16e-05 | 7.21e-04 | 79 |
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 |