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:00510172 | Colorectum | MSS | actin filament bundle assembly | 49/3467 | 157/18723 | 8.35e-05 | 1.36e-03 | 49 |
GO:00071602 | Colorectum | MSS | cell-matrix adhesion | 65/3467 | 233/18723 | 2.77e-04 | 3.67e-03 | 65 |
GO:00480412 | Colorectum | MSS | focal adhesion assembly | 29/3467 | 87/18723 | 6.84e-04 | 7.37e-03 | 29 |
GO:00991732 | Colorectum | MSS | postsynapse organization | 48/3467 | 168/18723 | 9.32e-04 | 9.44e-03 | 48 |
GO:00508082 | Colorectum | MSS | synapse organization | 101/3467 | 426/18723 | 3.96e-03 | 2.89e-02 | 101 |
GO:00300993 | Colorectum | MSI-H | myeloid cell differentiation | 50/1319 | 381/18723 | 1.52e-05 | 6.62e-04 | 50 |
GO:00070153 | Colorectum | MSI-H | actin filament organization | 50/1319 | 442/18723 | 6.19e-04 | 1.21e-02 | 50 |
GO:00070154 | Colorectum | FAP | actin filament organization | 125/2622 | 442/18723 | 1.97e-15 | 3.03e-12 | 125 |
GO:00343293 | Colorectum | FAP | cell junction assembly | 105/2622 | 420/18723 | 1.03e-09 | 2.18e-07 | 105 |
GO:00315893 | Colorectum | FAP | cell-substrate adhesion | 93/2622 | 363/18723 | 2.48e-09 | 4.61e-07 | 93 |
GO:00070443 | Colorectum | FAP | cell-substrate junction assembly | 36/2622 | 95/18723 | 6.03e-09 | 9.48e-07 | 36 |
GO:01501153 | Colorectum | FAP | cell-substrate junction organization | 37/2622 | 101/18723 | 1.09e-08 | 1.33e-06 | 37 |
GO:00615723 | Colorectum | FAP | actin filament bundle organization | 49/2622 | 161/18723 | 5.69e-08 | 4.30e-06 | 49 |
GO:00510173 | Colorectum | FAP | actin filament bundle assembly | 48/2622 | 157/18723 | 6.62e-08 | 4.56e-06 | 48 |
GO:00071603 | Colorectum | FAP | cell-matrix adhesion | 63/2622 | 233/18723 | 1.13e-07 | 7.43e-06 | 63 |
GO:00480413 | Colorectum | FAP | focal adhesion assembly | 31/2622 | 87/18723 | 3.40e-07 | 1.86e-05 | 31 |
GO:00508083 | Colorectum | FAP | synapse organization | 91/2622 | 426/18723 | 1.90e-05 | 4.74e-04 | 91 |
GO:00300994 | Colorectum | FAP | myeloid cell differentiation | 81/2622 | 381/18723 | 6.33e-05 | 1.22e-03 | 81 |
GO:00991733 | Colorectum | FAP | postsynapse organization | 42/2622 | 168/18723 | 1.01e-04 | 1.70e-03 | 42 |
GO:003009927 | Esophagus | HGIN | myeloid cell differentiation | 83/2587 | 381/18723 | 1.26e-05 | 3.52e-04 | 83 |
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.1780A>G | p.Thr594Ala | p.T594A | P12814 | protein_coding | tolerated(0.14) | benign(0.001) | TCGA-A2-A3XV-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | carboplatin | CR |
ACTN1 | SNV | Missense_Mutation | | c.2600N>C | p.Met867Thr | p.M867T | P12814 | protein_coding | tolerated(0.08) | benign(0) | TCGA-D8-A1XK-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicine+cyclophosphamide | SD |
ACTN1 | SNV | Missense_Mutation | rs760908092 | c.950N>A | p.Arg317Gln | p.R317Q | P12814 | protein_coding | deleterious(0.04) | probably_damaging(0.999) | TCGA-D8-A1XK-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicine+cyclophosphamide | SD |
ACTN1 | SNV | Missense_Mutation | rs373084944 | c.1894N>A | p.Arg632Ser | p.R632S | P12814 | protein_coding | deleterious(0.03) | probably_damaging(1) | TCGA-C5-A1M6-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | PD |
ACTN1 | SNV | Missense_Mutation | rs148344567 | c.2614C>T | p.Arg872Cys | p.R872C | P12814 | protein_coding | deleterious(0) | probably_damaging(0.987) | TCGA-DS-A1OB-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | carboplatin | PD |
ACTN1 | SNV | Missense_Mutation | novel | c.1537N>C | p.Glu513Gln | p.E513Q | P12814 | protein_coding | deleterious(0.03) | possibly_damaging(0.536) | TCGA-ZJ-AAXB-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
ACTN1 | SNV | Missense_Mutation | rs377766289 | c.2395N>T | p.Arg799Cys | p.R799C | P12814 | protein_coding | deleterious_low_confidence(0) | probably_damaging(0.927) | TCGA-5M-AAT6-01 | Colorectum | colon adenocarcinoma | Female | <65 | III/IV | Unknown | Unknown | PD |
ACTN1 | SNV | Missense_Mutation | rs372651589 | c.1495N>T | p.Arg499Trp | p.R499W | P12814 | protein_coding | deleterious(0) | probably_damaging(0.926) | TCGA-A6-2672-01 | Colorectum | colon adenocarcinoma | Female | >=65 | III/IV | Unknown | Unknown | SD |
ACTN1 | SNV | Missense_Mutation | rs201419872 | c.2173N>A | p.Ala725Thr | p.A725T | P12814 | protein_coding | tolerated(0.23) | possibly_damaging(0.607) | TCGA-AA-3510-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD |
ACTN1 | SNV | Missense_Mutation | rs148344567 | c.2614N>T | p.Arg872Cys | p.R872C | P12814 | protein_coding | deleterious(0) | probably_damaging(0.987) | TCGA-AA-3864-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD |