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:003444611 | Stomach | CAG with IM | substrate adhesion-dependent cell spreading | 17/1050 | 108/18723 | 1.03e-04 | 2.28e-03 | 17 |
GO:003083811 | Stomach | CAG with IM | positive regulation of actin filament polymerization | 16/1050 | 99/18723 | 1.19e-04 | 2.53e-03 | 16 |
GO:001063911 | Stomach | CAG with IM | negative regulation of organelle organization | 37/1050 | 348/18723 | 1.45e-04 | 2.89e-03 | 37 |
GO:003223311 | Stomach | CAG with IM | positive regulation of actin filament bundle assembly | 12/1050 | 63/18723 | 1.70e-04 | 3.28e-03 | 12 |
GO:190002611 | Stomach | CAG with IM | positive regulation of substrate adhesion-dependent cell spreading | 9/1050 | 41/18723 | 3.65e-04 | 5.89e-03 | 9 |
GO:005101611 | Stomach | CAG with IM | barbed-end actin filament capping | 7/1050 | 26/18723 | 4.39e-04 | 6.86e-03 | 7 |
GO:003227211 | Stomach | CAG with IM | negative regulation of protein polymerization | 13/1050 | 80/18723 | 4.78e-04 | 7.26e-03 | 13 |
GO:003103211 | Stomach | CAG with IM | actomyosin structure organization | 23/1050 | 196/18723 | 6.53e-04 | 9.14e-03 | 23 |
GO:003083711 | Stomach | CAG with IM | negative regulation of actin filament polymerization | 11/1050 | 65/18723 | 9.01e-04 | 1.17e-02 | 11 |
GO:001076911 | Stomach | CAG with IM | regulation of cell morphogenesis involved in differentiation | 14/1050 | 96/18723 | 9.03e-04 | 1.17e-02 | 14 |
GO:190290411 | Stomach | CAG with IM | negative regulation of supramolecular fiber organization | 20/1050 | 167/18723 | 1.11e-03 | 1.36e-02 | 20 |
GO:003158911 | Stomach | CAG with IM | cell-substrate adhesion | 35/1050 | 363/18723 | 1.29e-03 | 1.53e-02 | 35 |
GO:001081011 | Stomach | CAG with IM | regulation of cell-substrate adhesion | 24/1050 | 221/18723 | 1.50e-03 | 1.69e-02 | 24 |
GO:00514961 | Stomach | CAG with IM | positive regulation of stress fiber assembly | 9/1050 | 52/18723 | 2.20e-03 | 2.24e-02 | 9 |
GO:003083411 | Stomach | CAG with IM | regulation of actin filament depolymerization | 9/1050 | 54/18723 | 2.88e-03 | 2.73e-02 | 9 |
GO:003083511 | Stomach | CAG with IM | negative regulation of actin filament depolymerization | 8/1050 | 45/18723 | 3.22e-03 | 2.96e-02 | 8 |
GO:001081111 | Stomach | CAG with IM | positive regulation of cell-substrate adhesion | 15/1050 | 123/18723 | 3.71e-03 | 3.28e-02 | 15 |
GO:001077011 | Stomach | CAG with IM | positive regulation of cell morphogenesis involved in differentiation | 11/1050 | 79/18723 | 4.46e-03 | 3.76e-02 | 11 |
GO:005149411 | Stomach | CAG with IM | negative regulation of cytoskeleton organization | 18/1050 | 163/18723 | 4.63e-03 | 3.84e-02 | 18 |
GO:00300425 | Stomach | CAG with IM | actin filament depolymerization | 9/1050 | 59/18723 | 5.31e-03 | 4.22e-02 | 9 |
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 |