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:00070156 | Stomach | GC | actin filament organization | 67/1159 | 442/18723 | 7.96e-12 | 2.20e-09 | 67 |
GO:00432546 | Stomach | GC | regulation of protein-containing complex assembly | 58/1159 | 428/18723 | 1.48e-08 | 1.32e-06 | 58 |
GO:00313346 | Stomach | GC | positive regulation of protein-containing complex assembly | 39/1159 | 237/18723 | 2.00e-08 | 1.63e-06 | 39 |
GO:19029036 | Stomach | GC | regulation of supramolecular fiber organization | 53/1159 | 383/18723 | 3.07e-08 | 2.39e-06 | 53 |
GO:00329706 | Stomach | GC | regulation of actin filament-based process | 54/1159 | 397/18723 | 4.11e-08 | 2.85e-06 | 54 |
GO:00615726 | Stomach | GC | actin filament bundle organization | 30/1159 | 161/18723 | 5.07e-08 | 3.40e-06 | 30 |
GO:00510176 | Stomach | GC | actin filament bundle assembly | 29/1159 | 157/18723 | 1.03e-07 | 6.28e-06 | 29 |
GO:00457856 | Stomach | GC | positive regulation of cell adhesion | 56/1159 | 437/18723 | 1.79e-07 | 1.02e-05 | 56 |
GO:01100536 | Stomach | GC | regulation of actin filament organization | 41/1159 | 278/18723 | 2.00e-07 | 1.11e-05 | 41 |
GO:00226046 | Stomach | GC | regulation of cell morphogenesis | 44/1159 | 309/18723 | 2.01e-07 | 1.11e-05 | 44 |
GO:00329566 | Stomach | GC | regulation of actin cytoskeleton organization | 48/1159 | 358/18723 | 3.57e-07 | 1.88e-05 | 48 |
GO:19029056 | Stomach | GC | positive regulation of supramolecular fiber organization | 32/1159 | 209/18723 | 1.88e-06 | 8.30e-05 | 32 |
GO:00512586 | Stomach | GC | protein polymerization | 38/1159 | 297/18723 | 1.72e-05 | 5.40e-04 | 38 |
GO:00322716 | Stomach | GC | regulation of protein polymerization | 32/1159 | 233/18723 | 1.90e-05 | 5.83e-04 | 32 |
GO:00322316 | Stomach | GC | regulation of actin filament bundle assembly | 19/1159 | 105/18723 | 2.15e-05 | 6.45e-04 | 19 |
GO:0031529 | Stomach | GC | ruffle organization | 13/1159 | 56/18723 | 2.85e-05 | 7.90e-04 | 13 |
GO:00081546 | Stomach | GC | actin polymerization or depolymerization | 30/1159 | 218/18723 | 3.29e-05 | 8.94e-04 | 30 |
GO:19000246 | Stomach | GC | regulation of substrate adhesion-dependent cell spreading | 13/1159 | 57/18723 | 3.48e-05 | 9.32e-04 | 13 |
GO:00514926 | Stomach | GC | regulation of stress fiber assembly | 17/1159 | 91/18723 | 3.76e-05 | 9.76e-04 | 17 |
GO:01100206 | Stomach | GC | regulation of actomyosin structure organization | 18/1159 | 100/18723 | 3.77e-05 | 9.76e-04 | 18 |
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 |