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/ACTN4_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/ACTN4_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/ACTN4_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/ACTN4_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/ACTN4_pca_on_diff_genes.png) | ESCC: Esophageal squamous cell carcinoma |
HGIN: High-grade intraepithelial neoplasias |
LGIN: Low-grade intraepithelial neoplasias |
GC | ![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/GC/ACTN4_pca_on_diff_genes.png) | CAG: Chronic atrophic gastritis |
CAG with IM: Chronic atrophic gastritis with intestinal metaplasia |
CSG: Chronic superficial gastritis |
GC: Gastric cancer |
SIM: Severe intestinal metaplasia |
WIM: Wild intestinal metaplasia |
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/ACTN4_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/ACTN4_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/ACTN4_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/ACTN4_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/ACTN4_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:1902305 | Colorectum | AD | regulation of sodium ion transmembrane transport | 27/3918 | 68/18723 | 3.19e-04 | 3.80e-03 | 27 |
GO:0010769 | Colorectum | AD | regulation of cell morphogenesis involved in differentiation | 35/3918 | 96/18723 | 3.26e-04 | 3.85e-03 | 35 |
GO:0030050 | Colorectum | AD | vesicle transport along actin filament | 11/3918 | 19/18723 | 4.66e-04 | 5.15e-03 | 11 |
GO:0030705 | Colorectum | AD | cytoskeleton-dependent intracellular transport | 60/3918 | 195/18723 | 7.56e-04 | 7.59e-03 | 60 |
GO:2000649 | Colorectum | AD | regulation of sodium ion transmembrane transporter activity | 23/3918 | 58/18723 | 8.82e-04 | 8.53e-03 | 23 |
GO:1902307 | Colorectum | AD | positive regulation of sodium ion transmembrane transport | 11/3918 | 21/18723 | 1.43e-03 | 1.22e-02 | 11 |
GO:2000651 | Colorectum | AD | positive regulation of sodium ion transmembrane transporter activity | 9/3918 | 16/18723 | 2.06e-03 | 1.64e-02 | 9 |
GO:0032411 | Colorectum | AD | positive regulation of transporter activity | 37/3918 | 120/18723 | 6.82e-03 | 4.22e-02 | 37 |
GO:19026001 | Colorectum | SER | proton transmembrane transport | 60/2897 | 157/18723 | 3.12e-12 | 7.08e-10 | 60 |
GO:00226041 | Colorectum | SER | regulation of cell morphogenesis | 89/2897 | 309/18723 | 1.51e-09 | 1.52e-07 | 89 |
GO:00516561 | Colorectum | SER | establishment of organelle localization | 100/2897 | 390/18723 | 1.11e-07 | 6.79e-06 | 100 |
GO:00108101 | Colorectum | SER | regulation of cell-substrate adhesion | 64/2897 | 221/18723 | 2.34e-07 | 1.29e-05 | 64 |
GO:00315891 | Colorectum | SER | cell-substrate adhesion | 86/2897 | 363/18723 | 2.36e-05 | 6.64e-04 | 86 |
GO:00300481 | Colorectum | SER | actin filament-based movement | 38/2897 | 127/18723 | 2.80e-05 | 7.56e-04 | 38 |
GO:00107691 | Colorectum | SER | regulation of cell morphogenesis involved in differentiation | 31/2897 | 96/18723 | 2.95e-05 | 7.89e-04 | 31 |
GO:19000241 | Colorectum | SER | regulation of substrate adhesion-dependent cell spreading | 21/2897 | 57/18723 | 6.59e-05 | 1.51e-03 | 21 |
GO:00995151 | Colorectum | SER | actin filament-based transport | 11/2897 | 21/18723 | 9.28e-05 | 1.98e-03 | 11 |
GO:00344461 | Colorectum | SER | substrate adhesion-dependent cell spreading | 32/2897 | 108/18723 | 1.42e-04 | 2.82e-03 | 32 |
GO:00020281 | Colorectum | SER | regulation of sodium ion transport | 28/2897 | 90/18723 | 1.45e-04 | 2.86e-03 | 28 |
GO:00300501 | Colorectum | SER | vesicle transport along actin filament | 10/2897 | 19/18723 | 1.86e-04 | 3.43e-03 | 10 |
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 |
ACTN4 | SNV | Missense_Mutation | novel | c.2245N>A | p.Glu749Lys | p.E749K | O43707 | protein_coding | deleterious(0) | probably_damaging(0.989) | TCGA-A8-A09G-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Unknown | Unknown | SD |
ACTN4 | SNV | Missense_Mutation | rs752211925 | c.1093N>T | p.Arg365Cys | p.R365C | O43707 | protein_coding | deleterious(0.02) | benign(0.313) | TCGA-AN-A0AK-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
ACTN4 | SNV | Missense_Mutation | | c.1210N>C | p.Glu404Gln | p.E404Q | O43707 | protein_coding | deleterious(0.01) | benign(0.347) | TCGA-AR-A1AI-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cytoxan | PD |
ACTN4 | SNV | Missense_Mutation | | c.1506G>C | p.Trp502Cys | p.W502C | O43707 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-AR-A24L-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | PD |
ACTN4 | SNV | Missense_Mutation | | c.2425N>A | p.Ala809Thr | p.A809T | O43707 | protein_coding | tolerated(0.15) | benign(0.012) | TCGA-D8-A1JD-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | SD |
ACTN4 | SNV | Missense_Mutation | | c.979N>A | p.Glu327Lys | p.E327K | O43707 | protein_coding | tolerated(0.64) | benign(0.027) | TCGA-D8-A1JN-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Hormone Therapy | anastrozolum | SD |
ACTN4 | SNV | Missense_Mutation | | c.2161N>T | p.Asp721Tyr | p.D721Y | O43707 | protein_coding | deleterious(0.02) | probably_damaging(0.971) | TCGA-E2-A10A-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | zoladex | SD |
ACTN4 | SNV | Missense_Mutation | novel | c.230A>G | p.Asp77Gly | p.D77G | O43707 | protein_coding | deleterious(0.01) | probably_damaging(0.998) | TCGA-S3-AA10-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | cytoxan | CR |
ACTN4 | insertion | In_Frame_Ins | novel | c.1364_1365insCCT | p.Lys455delinsAsnLeu | p.K455delinsNL | O43707 | protein_coding | | | TCGA-A8-A07P-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | 5-fluorouracil | SD |
ACTN4 | insertion | Frame_Shift_Ins | novel | c.1365_1366insTGCGGGTGCAGGGT | p.His456CysfsTer58 | p.H456Cfs*58 | O43707 | protein_coding | | | TCGA-A8-A07P-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | 5-fluorouracil | SD |