Tissue | Expression Dynamics | Abbreviation |
Breast | ![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/Breast/C4orf3_pca_on_diff_genes.png) | IDC: Invasive ductal carcinoma |
DCIS: Ductal carcinoma in situ |
Precancer(BRCA1-mut): Precancerous lesion from BRCA1 mutation carriers |
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/C4orf3_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/C4orf3_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/C4orf3_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/C4orf3_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/C4orf3_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/C4orf3_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/C4orf3_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/C4orf3_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/C4orf3_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/C4orf3_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:00510989 | Breast | Precancer | regulation of binding | 44/1080 | 363/18723 | 2.59e-06 | 8.65e-05 | 44 |
GO:00511008 | Breast | Precancer | negative regulation of binding | 19/1080 | 162/18723 | 2.56e-03 | 2.32e-02 | 19 |
GO:00109596 | Breast | Precancer | regulation of metal ion transport | 37/1080 | 406/18723 | 4.07e-03 | 3.22e-02 | 37 |
GO:00228985 | Breast | Precancer | regulation of transmembrane transporter activity | 27/1080 | 278/18723 | 5.72e-03 | 4.11e-02 | 27 |
GO:1901019 | Breast | Precancer | regulation of calcium ion transmembrane transporter activity | 12/1080 | 93/18723 | 7.09e-03 | 4.78e-02 | 12 |
GO:005109814 | Breast | IDC | regulation of binding | 57/1434 | 363/18723 | 1.59e-07 | 8.76e-06 | 57 |
GO:001095913 | Breast | IDC | regulation of metal ion transport | 52/1434 | 406/18723 | 1.76e-04 | 2.97e-03 | 52 |
GO:005110014 | Breast | IDC | negative regulation of binding | 25/1434 | 162/18723 | 5.98e-04 | 7.54e-03 | 25 |
GO:002289812 | Breast | IDC | regulation of transmembrane transporter activity | 36/1434 | 278/18723 | 1.35e-03 | 1.40e-02 | 36 |
GO:0051924 | Breast | IDC | regulation of calcium ion transport | 32/1434 | 255/18723 | 3.94e-03 | 3.22e-02 | 32 |
GO:00324125 | Breast | IDC | regulation of ion transmembrane transporter activity | 33/1434 | 267/18723 | 4.38e-03 | 3.40e-02 | 33 |
GO:00324096 | Breast | IDC | regulation of transporter activity | 37/1434 | 310/18723 | 4.77e-03 | 3.66e-02 | 37 |
GO:005109823 | Breast | DCIS | regulation of binding | 55/1390 | 363/18723 | 3.14e-07 | 1.48e-05 | 55 |
GO:001095921 | Breast | DCIS | regulation of metal ion transport | 50/1390 | 406/18723 | 2.86e-04 | 4.22e-03 | 50 |
GO:005110022 | Breast | DCIS | negative regulation of binding | 25/1390 | 162/18723 | 3.77e-04 | 5.27e-03 | 25 |
GO:002289822 | Breast | DCIS | regulation of transmembrane transporter activity | 35/1390 | 278/18723 | 1.50e-03 | 1.51e-02 | 35 |
GO:003241212 | Breast | DCIS | regulation of ion transmembrane transporter activity | 32/1390 | 267/18723 | 4.97e-03 | 3.72e-02 | 32 |
GO:003240912 | Breast | DCIS | regulation of transporter activity | 36/1390 | 310/18723 | 5.05e-03 | 3.74e-02 | 36 |
GO:005109810 | Cervix | CC | regulation of binding | 80/2311 | 363/18723 | 1.32e-07 | 6.42e-06 | 80 |
GO:00511009 | Cervix | CC | negative regulation of binding | 34/2311 | 162/18723 | 1.25e-03 | 1.00e-02 | 34 |
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 |
C4orf3 | SNV | Missense_Mutation | novel | c.397G>A | p.Glu133Lys | p.E133K | Q8WVX3 | protein_coding | tolerated_low_confidence(0.06) | possibly_damaging(0.497) | TCGA-A7-A6VY-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cyclophosphamide | CR |
C4orf3 | SNV | Missense_Mutation | | c.452N>C | p.Arg151Pro | p.R151P | Q8WVX3 | protein_coding | deleterious_low_confidence(0) | probably_damaging(0.935) | TCGA-AN-A0XW-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
C4orf3 | SNV | Missense_Mutation | | c.353T>G | p.Leu118Arg | p.L118R | Q8WVX3 | protein_coding | deleterious_low_confidence(0) | benign(0.003) | TCGA-AR-A2LE-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | tamoxiphen | PD |
C4orf3 | SNV | Missense_Mutation | | c.383N>A | p.Arg128Gln | p.R128Q | Q8WVX3 | protein_coding | tolerated_low_confidence(0.05) | benign(0) | TCGA-EK-A3GK-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
C4orf3 | SNV | Missense_Mutation | | c.591T>G | p.Phe197Leu | p.F197L | Q8WVX3 | protein_coding | tolerated_low_confidence(0.27) | benign(0) | TCGA-AA-3510-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD |
C4orf3 | SNV | Missense_Mutation | novel | c.349N>A | p.Glu117Lys | p.E117K | Q8WVX3 | protein_coding | tolerated_low_confidence(0.12) | possibly_damaging(0.497) | TCGA-AZ-4315-01 | Colorectum | colon adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | SD |
C4orf3 | insertion | Frame_Shift_Ins | rs760121305 | c.593_594insT | p.Leu198PhefsTer20 | p.L198Ffs*20 | Q8WVX3 | protein_coding | | | TCGA-A6-5661-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
C4orf3 | SNV | Missense_Mutation | rs767655670 | c.560T>C | p.Phe187Ser | p.F187S | Q8WVX3 | protein_coding | deleterious_low_confidence(0) | possibly_damaging(0.466) | TCGA-A5-A0GP-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
C4orf3 | SNV | Missense_Mutation | novel | c.473G>T | p.Arg158Met | p.R158M | Q8WVX3 | protein_coding | deleterious_low_confidence(0) | benign(0.391) | TCGA-AP-A05O-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Chemotherapy | carboplatin | PD |
C4orf3 | SNV | Missense_Mutation | rs772979807 | c.88N>C | p.Tyr30His | p.Y30H | Q8WVX3 | protein_coding | | possibly_damaging(0.617) | TCGA-AX-A0J0-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |