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/ACTN1_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/ACTN1_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/ACTN1_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/ACTN1_pca_on_diff_genes.png) | AD: Adenomas |
SER: Sessile serrated lesions |
MSI-H: Microsatellite-high colorectal cancer |
MSS: Microsatellite stable colorectal 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/ACTN1_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/ACTN1_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/ACTN1_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/ACTN1_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/ACTN1_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/ACTN1_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:00300999 | Breast | Precancer | myeloid cell differentiation | 45/1080 | 381/18723 | 4.00e-06 | 1.25e-04 | 45 |
GO:00070159 | Breast | Precancer | actin filament organization | 44/1080 | 442/18723 | 3.02e-04 | 4.35e-03 | 44 |
GO:00510179 | Breast | Precancer | actin filament bundle assembly | 18/1080 | 157/18723 | 4.17e-03 | 3.28e-02 | 18 |
GO:01501158 | Breast | Precancer | cell-substrate junction organization | 13/1080 | 101/18723 | 5.30e-03 | 3.94e-02 | 13 |
GO:00615729 | Breast | Precancer | actin filament bundle organization | 18/1080 | 161/18723 | 5.43e-03 | 4.01e-02 | 18 |
GO:003009914 | Breast | IDC | myeloid cell differentiation | 54/1434 | 381/18723 | 8.07e-06 | 2.39e-04 | 54 |
GO:00512712 | Breast | IDC | negative regulation of cellular component movement | 48/1434 | 367/18723 | 1.88e-04 | 3.12e-03 | 48 |
GO:000701514 | Breast | IDC | actin filament organization | 55/1434 | 442/18723 | 2.45e-04 | 3.84e-03 | 55 |
GO:005101714 | Breast | IDC | actin filament bundle assembly | 24/1434 | 157/18723 | 8.73e-04 | 1.01e-02 | 24 |
GO:006157214 | Breast | IDC | actin filament bundle organization | 24/1434 | 161/18723 | 1.25e-03 | 1.33e-02 | 24 |
GO:00426923 | Breast | IDC | muscle cell differentiation | 44/1434 | 384/18723 | 4.77e-03 | 3.66e-02 | 44 |
GO:003009924 | Breast | DCIS | myeloid cell differentiation | 55/1390 | 381/18723 | 1.50e-06 | 5.68e-05 | 55 |
GO:000701524 | Breast | DCIS | actin filament organization | 56/1390 | 442/18723 | 5.90e-05 | 1.19e-03 | 56 |
GO:005127111 | Breast | DCIS | negative regulation of cellular component movement | 48/1390 | 367/18723 | 8.97e-05 | 1.69e-03 | 48 |
GO:005101724 | Breast | DCIS | actin filament bundle assembly | 25/1390 | 157/18723 | 2.31e-04 | 3.65e-03 | 25 |
GO:006157224 | Breast | DCIS | actin filament bundle organization | 25/1390 | 161/18723 | 3.43e-04 | 4.90e-03 | 25 |
GO:004269211 | Breast | DCIS | muscle cell differentiation | 43/1390 | 384/18723 | 4.56e-03 | 3.49e-02 | 43 |
GO:00315898 | Cervix | CC | cell-substrate adhesion | 96/2311 | 363/18723 | 1.48e-13 | 8.85e-11 | 96 |
GO:000701510 | Cervix | CC | actin filament organization | 109/2311 | 442/18723 | 4.92e-13 | 2.45e-10 | 109 |
GO:01501159 | Cervix | CC | cell-substrate junction organization | 37/2311 | 101/18723 | 3.20e-10 | 4.46e-08 | 37 |
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 |
ACTN1 | SNV | Missense_Mutation | novel | c.850N>G | p.Ser284Gly | p.S284G | P12814 | protein_coding | deleterious(0) | benign(0.085) | TCGA-D1-A1NY-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Chemotherapy | carboplatin | SD |
ACTN1 | SNV | Missense_Mutation | novel | c.1314N>T | p.Glu438Asp | p.E438D | P12814 | protein_coding | tolerated(0.05) | benign(0.083) | TCGA-DF-A2KN-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | Unknown | I/II | Unknown | Unknown | SD |
ACTN1 | SNV | Missense_Mutation | | c.1019N>T | p.Thr340Met | p.T340M | P12814 | protein_coding | deleterious(0) | probably_damaging(0.964) | TCGA-DF-A2KU-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | Unknown | I/II | Unknown | Unknown | SD |
ACTN1 | SNV | Missense_Mutation | novel | c.710N>T | p.Ala237Val | p.A237V | P12814 | protein_coding | deleterious(0) | possibly_damaging(0.858) | TCGA-DF-A2KU-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | Unknown | I/II | Unknown | Unknown | SD |
ACTN1 | SNV | Missense_Mutation | novel | c.1402N>A | p.Asp468Asn | p.D468N | P12814 | protein_coding | tolerated(0.11) | benign(0.041) | TCGA-DI-A1BU-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Chemotherapy | paclitaxel | SD |
ACTN1 | SNV | Missense_Mutation | rs745580045 | c.2447N>A | p.Arg816His | p.R816H | P12814 | protein_coding | deleterious(0.04) | benign(0.243) | TCGA-EO-A22U-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
ACTN1 | SNV | Missense_Mutation | rs200613938 | c.166N>A | p.Glu56Lys | p.E56K | P12814 | protein_coding | deleterious(0.04) | benign(0.263) | TCGA-EO-A3AY-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | PD |
ACTN1 | SNV | Missense_Mutation | novel | c.675N>C | p.Glu225Asp | p.E225D | P12814 | protein_coding | tolerated(0.07) | benign(0.156) | TCGA-EO-A3B0-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
ACTN1 | SNV | Missense_Mutation | novel | c.2151G>T | p.Trp717Cys | p.W717C | P12814 | protein_coding | deleterious(0) | probably_damaging(0.998) | TCGA-EO-A3KX-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
ACTN1 | SNV | Missense_Mutation | novel | c.404C>T | p.Ala135Val | p.A135V | P12814 | protein_coding | deleterious(0) | probably_damaging(0.965) | TCGA-EY-A1GT-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | III/IV | Unspecific | Carboplatin | SD |