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/CARMIL1_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/CARMIL1_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/CARMIL1_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/CARMIL1_pca_on_diff_genes.png) | AEH: Atypical endometrial hyperplasia |
EEC: Endometrioid Cancer |
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/CARMIL1_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/CARMIL1_pca_on_diff_genes.png) | HCC: Hepatocellular carcinoma |
NAFLD: Non-alcoholic fatty liver disease |
Lung | ![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/Lung/CARMIL1_pca_on_diff_genes.png) | AAH: Atypical adenomatous hyperplasia |
AIS: Adenocarcinoma in situ |
IAC: Invasive lung adenocarcinoma |
MIA: Minimally invasive adenocarcinoma |
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/CARMIL1_pca_on_diff_genes.png) | BPH: Benign Prostatic Hyperplasia |
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/CARMIL1_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:003152911 | Liver | HCC | ruffle organization | 34/7958 | 56/18723 | 4.54e-03 | 1.96e-02 | 34 |
GO:003227212 | Liver | HCC | negative regulation of protein polymerization | 46/7958 | 80/18723 | 4.81e-03 | 2.03e-02 | 46 |
GO:00432444 | Liver | HCC | regulation of protein-containing complex disassembly | 66/7958 | 121/18723 | 4.94e-03 | 2.07e-02 | 66 |
GO:005101612 | Liver | HCC | barbed-end actin filament capping | 18/7958 | 26/18723 | 5.37e-03 | 2.24e-02 | 18 |
GO:003223122 | Liver | HCC | regulation of actin filament bundle assembly | 57/7958 | 105/18723 | 9.73e-03 | 3.66e-02 | 57 |
GO:00514946 | Liver | HCC | negative regulation of cytoskeleton organization | 84/7958 | 163/18723 | 1.22e-02 | 4.43e-02 | 84 |
GO:011002022 | Liver | HCC | regulation of actomyosin structure organization | 54/7958 | 100/18723 | 1.33e-02 | 4.76e-02 | 54 |
GO:003083712 | Liver | HCC | negative regulation of actin filament polymerization | 37/7958 | 65/18723 | 1.33e-02 | 4.77e-02 | 37 |
GO:00436242 | Liver | HCC | cellular protein complex disassembly | 71/7958 | 136/18723 | 1.39e-02 | 4.95e-02 | 71 |
GO:00315897 | Lung | IAC | cell-substrate adhesion | 85/2061 | 363/18723 | 8.57e-12 | 4.27e-09 | 85 |
GO:00226048 | Lung | IAC | regulation of cell morphogenesis | 74/2061 | 309/18723 | 6.31e-11 | 1.70e-08 | 74 |
GO:00108108 | Lung | IAC | regulation of cell-substrate adhesion | 57/2061 | 221/18723 | 5.09e-10 | 1.04e-07 | 57 |
GO:00070158 | Lung | IAC | actin filament organization | 92/2061 | 442/18723 | 1.01e-09 | 1.93e-07 | 92 |
GO:00457858 | Lung | IAC | positive regulation of cell adhesion | 87/2061 | 437/18723 | 2.59e-08 | 3.13e-06 | 87 |
GO:00510178 | Lung | IAC | actin filament bundle assembly | 40/2061 | 157/18723 | 2.66e-07 | 2.14e-05 | 40 |
GO:00310327 | Lung | IAC | actomyosin structure organization | 46/2061 | 196/18723 | 4.70e-07 | 3.10e-05 | 46 |
GO:00329708 | Lung | IAC | regulation of actin filament-based process | 77/2061 | 397/18723 | 4.85e-07 | 3.10e-05 | 77 |
GO:00615728 | Lung | IAC | actin filament bundle organization | 40/2061 | 161/18723 | 5.43e-07 | 3.32e-05 | 40 |
GO:00329568 | Lung | IAC | regulation of actin cytoskeleton organization | 70/2061 | 358/18723 | 1.17e-06 | 6.20e-05 | 70 |
GO:00106398 | Lung | IAC | negative regulation of organelle organization | 68/2061 | 348/18723 | 1.69e-06 | 8.24e-05 | 68 |
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 |
CARMIL1 | SNV | Missense_Mutation | novel | c.1550N>A | p.Gly517Asp | p.G517D | Q5VZK9 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-A8-A09Z-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
CARMIL1 | SNV | Missense_Mutation | | c.3439G>T | p.Asp1147Tyr | p.D1147Y | Q5VZK9 | protein_coding | deleterious_low_confidence(0) | probably_damaging(0.987) | TCGA-AC-A23H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
CARMIL1 | SNV | Missense_Mutation | | c.1533N>G | p.Ile511Met | p.I511M | Q5VZK9 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-D8-A1XK-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicine+cyclophosphamide | SD |
CARMIL1 | SNV | Missense_Mutation | rs555687744 | c.410N>A | p.Arg137His | p.R137H | Q5VZK9 | protein_coding | deleterious(0.01) | probably_damaging(0.998) | TCGA-D8-A27W-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | doxorubicine+cyclophosphamide | SD |
CARMIL1 | SNV | Missense_Mutation | | c.1496N>T | p.Ser499Phe | p.S499F | Q5VZK9 | protein_coding | tolerated(0.12) | probably_damaging(0.987) | TCGA-E2-A10C-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cytoxan | SD |
CARMIL1 | SNV | Missense_Mutation | novel | c.3268N>A | p.Glu1090Lys | p.E1090K | Q5VZK9 | protein_coding | deleterious_low_confidence(0.03) | benign(0.092) | TCGA-E9-A22E-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | cyclophosphane | SD |
CARMIL1 | SNV | Missense_Mutation | | c.3269N>T | p.Glu1090Val | p.E1090V | Q5VZK9 | protein_coding | deleterious_low_confidence(0.01) | benign(0.125) | TCGA-E9-A22E-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | cyclophosphane | SD |
CARMIL1 | SNV | Missense_Mutation | | c.3402N>T | p.Glu1134Asp | p.E1134D | Q5VZK9 | protein_coding | tolerated_low_confidence(0.12) | benign(0.009) | TCGA-E9-A22E-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | cyclophosphane | SD |
CARMIL1 | SNV | Missense_Mutation | rs767321872 | c.3466C>T | p.Arg1156Trp | p.R1156W | Q5VZK9 | protein_coding | deleterious_low_confidence(0.03) | probably_damaging(0.969) | TCGA-GI-A2C8-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Unspecific | Adriamycin | SD |
CARMIL1 | SNV | Missense_Mutation | novel | c.3489N>T | p.Met1163Ile | p.M1163I | Q5VZK9 | protein_coding | deleterious_low_confidence(0) | probably_damaging(0.958) | TCGA-LL-A5YN-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | carboplatin | SD |