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/KMT2E_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/KMT2E_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/KMT2E_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/KMT2E_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/KMT2E_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/KMT2E_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/KMT2E_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/KMT2E_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/KMT2E_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/KMT2E_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:004477215 | Oral cavity | LP | mitotic cell cycle phase transition | 150/4623 | 424/18723 | 4.38e-07 | 1.23e-05 | 150 |
GO:0030099110 | Oral cavity | LP | myeloid cell differentiation | 130/4623 | 381/18723 | 1.94e-05 | 3.27e-04 | 130 |
GO:000008213 | Oral cavity | LP | G1/S transition of mitotic cell cycle | 80/4623 | 214/18723 | 2.30e-05 | 3.74e-04 | 80 |
GO:004484313 | Oral cavity | LP | cell cycle G1/S phase transition | 88/4623 | 241/18723 | 2.62e-05 | 4.21e-04 | 88 |
GO:001657014 | Oral cavity | LP | histone modification | 152/4623 | 463/18723 | 4.04e-05 | 5.90e-04 | 152 |
GO:190199012 | Oral cavity | LP | regulation of mitotic cell cycle phase transition | 104/4623 | 299/18723 | 5.34e-05 | 7.41e-04 | 104 |
GO:190198712 | Oral cavity | LP | regulation of cell cycle phase transition | 126/4623 | 390/18723 | 3.69e-04 | 3.64e-03 | 126 |
GO:004593115 | Oral cavity | LP | positive regulation of mitotic cell cycle | 46/4623 | 121/18723 | 7.65e-04 | 6.80e-03 | 46 |
GO:003105613 | Oral cavity | LP | regulation of histone modification | 55/4623 | 152/18723 | 1.01e-03 | 8.48e-03 | 55 |
GO:00310581 | Oral cavity | LP | positive regulation of histone modification | 36/4623 | 92/18723 | 1.51e-03 | 1.18e-02 | 36 |
GO:190280612 | Oral cavity | LP | regulation of cell cycle G1/S phase transition | 59/4623 | 168/18723 | 1.55e-03 | 1.20e-02 | 59 |
GO:200004512 | Oral cavity | LP | regulation of G1/S transition of mitotic cell cycle | 51/4623 | 142/18723 | 1.81e-03 | 1.37e-02 | 51 |
GO:0034101110 | Oral cavity | LP | erythrocyte homeostasis | 47/4623 | 129/18723 | 1.91e-03 | 1.43e-02 | 47 |
GO:0002262110 | Oral cavity | LP | myeloid cell homeostasis | 55/4623 | 157/18723 | 2.33e-03 | 1.68e-02 | 55 |
GO:190198912 | Oral cavity | LP | positive regulation of cell cycle phase transition | 42/4623 | 115/18723 | 3.06e-03 | 2.09e-02 | 42 |
GO:0048872110 | Oral cavity | LP | homeostasis of number of cells | 87/4623 | 272/18723 | 3.75e-03 | 2.47e-02 | 87 |
GO:0030218110 | Oral cavity | LP | erythrocyte differentiation | 43/4623 | 120/18723 | 4.13e-03 | 2.66e-02 | 43 |
GO:190199211 | Oral cavity | LP | positive regulation of mitotic cell cycle phase transition | 34/4623 | 93/18723 | 7.08e-03 | 3.98e-02 | 34 |
GO:004578715 | Oral cavity | LP | positive regulation of cell cycle | 96/4623 | 313/18723 | 9.08e-03 | 4.85e-02 | 96 |
GO:003009926 | Oral cavity | EOLP | myeloid cell differentiation | 91/2218 | 381/18723 | 2.87e-11 | 4.15e-09 | 91 |
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 |
KMT2E | SNV | Missense_Mutation | novel | c.3046G>C | p.Glu1016Gln | p.E1016Q | Q8IZD2 | protein_coding | tolerated_low_confidence(0.09) | benign(0.398) | TCGA-3C-AALI-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unspecific | Poly E | Complete Response |
KMT2E | SNV | Missense_Mutation | novel | c.1966N>T | p.Arg656Trp | p.R656W | Q8IZD2 | protein_coding | deleterious(0) | probably_damaging(0.998) | TCGA-5L-AAT1-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Hormone Therapy | letrozol | SD |
KMT2E | SNV | Missense_Mutation | | c.5527N>A | p.Gln1843Lys | p.Q1843K | Q8IZD2 | protein_coding | deleterious_low_confidence(0) | possibly_damaging(0.857) | TCGA-AO-A0J4-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | SD |
KMT2E | SNV | Missense_Mutation | | c.4478N>A | p.Arg1493Gln | p.R1493Q | Q8IZD2 | protein_coding | deleterious_low_confidence(0) | probably_damaging(0.968) | TCGA-B6-A0IK-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Unknown | Unknown | PD |
KMT2E | SNV | Missense_Mutation | | c.1609N>A | p.Val537Ile | p.V537I | Q8IZD2 | protein_coding | tolerated(1) | benign(0.001) | TCGA-BH-A18G-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
KMT2E | SNV | Missense_Mutation | | c.4214N>T | p.Ser1405Leu | p.S1405L | Q8IZD2 | protein_coding | tolerated_low_confidence(0.24) | benign(0) | TCGA-BH-A1EN-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
KMT2E | SNV | Missense_Mutation | | c.1183N>T | p.Val395Phe | p.V395F | Q8IZD2 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-D8-A1XO-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | SD |
KMT2E | SNV | Missense_Mutation | | c.4592A>G | p.Tyr1531Cys | p.Y1531C | Q8IZD2 | protein_coding | deleterious_low_confidence(0) | possibly_damaging(0.65) | TCGA-E2-A1LH-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | SD |
KMT2E | SNV | Missense_Mutation | | c.763N>C | p.Val255Leu | p.V255L | Q8IZD2 | protein_coding | tolerated(0.05) | probably_damaging(0.978) | TCGA-E9-A1ND-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | aromasin | SD |
KMT2E | SNV | Missense_Mutation | novel | c.260N>G | p.Asn87Ser | p.N87S | Q8IZD2 | protein_coding | tolerated(0.15) | possibly_damaging(0.743) | TCGA-E9-A5UO-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |