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/MYL12A_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/MYL12A_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/MYL12A_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/MYL12A_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/MYL12A_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/MYL12A_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/MYL12A_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/MYL12A_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/MYL12A_pca_on_diff_genes.png) | AAH: Atypical adenomatous hyperplasia |
AIS: Adenocarcinoma in situ |
IAC: Invasive lung adenocarcinoma |
MIA: Minimally invasive adenocarcinoma |
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/MYL12A_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/MYL12A_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/MYL12A_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/MYL12A_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:002260427 | Skin | cSCC | regulation of cell morphogenesis | 114/4864 | 309/18723 | 1.34e-05 | 1.68e-04 | 114 |
GO:003410927 | Skin | cSCC | homotypic cell-cell adhesion | 37/4864 | 90/18723 | 1.22e-03 | 7.91e-03 | 37 |
GO:000836025 | Skin | cSCC | regulation of cell shape | 57/4864 | 154/18723 | 1.61e-03 | 9.90e-03 | 57 |
GO:00226046 | Stomach | GC | regulation of cell morphogenesis | 44/1159 | 309/18723 | 2.01e-07 | 1.11e-05 | 44 |
GO:00420606 | Stomach | GC | wound healing | 52/1159 | 422/18723 | 1.63e-06 | 7.50e-05 | 52 |
GO:00083605 | Stomach | GC | regulation of cell shape | 23/1159 | 154/18723 | 7.52e-05 | 1.63e-03 | 23 |
GO:00508786 | Stomach | GC | regulation of body fluid levels | 40/1159 | 379/18723 | 6.92e-04 | 9.20e-03 | 40 |
GO:00341096 | Stomach | GC | homotypic cell-cell adhesion | 14/1159 | 90/18723 | 1.22e-03 | 1.39e-02 | 14 |
GO:002260411 | Stomach | CAG with IM | regulation of cell morphogenesis | 41/1050 | 309/18723 | 2.63e-07 | 1.61e-05 | 41 |
GO:004206011 | Stomach | CAG with IM | wound healing | 49/1050 | 422/18723 | 1.11e-06 | 5.44e-05 | 49 |
GO:000836011 | Stomach | CAG with IM | regulation of cell shape | 22/1050 | 154/18723 | 4.94e-05 | 1.27e-03 | 22 |
GO:005087811 | Stomach | CAG with IM | regulation of body fluid levels | 37/1050 | 379/18723 | 7.56e-04 | 1.03e-02 | 37 |
GO:003410911 | Stomach | CAG with IM | homotypic cell-cell adhesion | 13/1050 | 90/18723 | 1.49e-03 | 1.68e-02 | 13 |
GO:00726596 | Stomach | CAG with IM | protein localization to plasma membrane | 27/1050 | 284/18723 | 5.25e-03 | 4.19e-02 | 27 |
GO:002260421 | Stomach | CSG | regulation of cell morphogenesis | 40/1034 | 309/18723 | 4.76e-07 | 2.77e-05 | 40 |
GO:004206021 | Stomach | CSG | wound healing | 49/1034 | 422/18723 | 7.12e-07 | 3.77e-05 | 49 |
GO:000836021 | Stomach | CSG | regulation of cell shape | 22/1034 | 154/18723 | 3.93e-05 | 1.04e-03 | 22 |
GO:003410921 | Stomach | CSG | homotypic cell-cell adhesion | 13/1034 | 90/18723 | 1.29e-03 | 1.54e-02 | 13 |
GO:005087821 | Stomach | CSG | regulation of body fluid levels | 35/1034 | 379/18723 | 2.07e-03 | 2.14e-02 | 35 |
GO:004206031 | Stomach | CAG | wound healing | 30/552 | 422/18723 | 8.89e-06 | 3.78e-04 | 30 |
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 |
MYL12A | SNV | Missense_Mutation | | c.529N>A | p.Asp177Asn | p.D177N | | protein_coding | tolerated(0.06) | benign(0.058) | TCGA-BH-A0DL-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cytoxan | CR |
MYL12A | SNV | Missense_Mutation | | c.101C>T | p.Ser34Leu | p.S34L | | protein_coding | deleterious(0) | possibly_damaging(0.868) | TCGA-E2-A10C-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cytoxan | SD |
MYL12A | SNV | Missense_Mutation | | c.362N>A | p.Gly121Asp | p.G121D | | protein_coding | deleterious(0.01) | possibly_damaging(0.478) | TCGA-IR-A3LA-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
MYL12A | SNV | Missense_Mutation | | c.214N>A | p.Asp72Asn | p.D72N | | protein_coding | tolerated(0.49) | benign(0.009) | TCGA-IR-A3LK-01 | Cervix | cervical & endocervical cancer | Female | >=65 | I/II | Chemotherapy | cisplatin | PD |
MYL12A | insertion | Frame_Shift_Ins | novel | c.77_78insGATTACT | p.Asn26LysfsTer9 | p.N26Kfs*9 | | protein_coding | | | TCGA-AM-5820-01 | Colorectum | colon adenocarcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
MYL12A | SNV | Missense_Mutation | novel | c.171A>C | p.Glu57Asp | p.E57D | | protein_coding | tolerated(0.16) | benign(0.003) | TCGA-A5-A0G2-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
MYL12A | SNV | Missense_Mutation | rs764366847 | c.55C>T | p.Arg19Cys | p.R19C | | protein_coding | deleterious(0.05) | probably_damaging(0.993) | TCGA-AP-A0LM-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | cisplatin | SD |
MYL12A | SNV | Missense_Mutation | rs199590891 | c.64C>T | p.Arg22Cys | p.R22C | | protein_coding | tolerated(0.15) | benign(0) | TCGA-AX-A0J1-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
MYL12A | SNV | Missense_Mutation | novel | c.270G>A | p.Met90Ile | p.M90I | | protein_coding | tolerated(0.09) | benign(0.001) | TCGA-AX-A0J1-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
MYL12A | SNV | Missense_Mutation | rs11539726 | c.133A>G | p.Met45Val | p.M45V | | protein_coding | tolerated(0.29) | benign(0.003) | TCGA-AX-A1C4-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |