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:00310602 | Prostate | BPH | regulation of histone methylation | 20/3107 | 69/18723 | 7.06e-03 | 3.16e-02 | 20 |
GO:00515712 | Prostate | BPH | positive regulation of histone H3-K4 methylation | 8/3107 | 19/18723 | 7.65e-03 | 3.39e-02 | 8 |
GO:00515692 | Prostate | BPH | regulation of histone H3-K4 methylation | 11/3107 | 31/18723 | 8.57e-03 | 3.68e-02 | 11 |
GO:19028081 | Prostate | BPH | positive regulation of cell cycle G1/S phase transition | 17/3107 | 58/18723 | 1.11e-02 | 4.54e-02 | 17 |
GO:003009919 | Prostate | Tumor | myeloid cell differentiation | 120/3246 | 381/18723 | 6.96e-12 | 5.62e-10 | 120 |
GO:003410119 | Prostate | Tumor | erythrocyte homeostasis | 54/3246 | 129/18723 | 5.07e-11 | 3.32e-09 | 54 |
GO:003021819 | Prostate | Tumor | erythrocyte differentiation | 50/3246 | 120/18723 | 3.17e-10 | 1.70e-08 | 50 |
GO:000226219 | Prostate | Tumor | myeloid cell homeostasis | 60/3246 | 157/18723 | 3.72e-10 | 1.97e-08 | 60 |
GO:004887219 | Prostate | Tumor | homeostasis of number of cells | 86/3246 | 272/18723 | 5.29e-09 | 2.11e-07 | 86 |
GO:001657013 | Prostate | Tumor | histone modification | 126/3246 | 463/18723 | 5.51e-08 | 1.65e-06 | 126 |
GO:001820512 | Prostate | Tumor | peptidyl-lysine modification | 99/3246 | 376/18723 | 6.77e-06 | 1.02e-04 | 99 |
GO:000008212 | Prostate | Tumor | G1/S transition of mitotic cell cycle | 62/3246 | 214/18723 | 1.63e-05 | 2.18e-04 | 62 |
GO:000632514 | Prostate | Tumor | chromatin organization | 104/3246 | 409/18723 | 2.02e-05 | 2.62e-04 | 104 |
GO:004484312 | Prostate | Tumor | cell cycle G1/S phase transition | 67/3246 | 241/18723 | 3.28e-05 | 3.88e-04 | 67 |
GO:000734613 | Prostate | Tumor | regulation of mitotic cell cycle | 113/3246 | 457/18723 | 3.37e-05 | 3.96e-04 | 113 |
GO:004477214 | Prostate | Tumor | mitotic cell cycle phase transition | 106/3246 | 424/18723 | 3.61e-05 | 4.21e-04 | 106 |
GO:200004511 | Prostate | Tumor | regulation of G1/S transition of mitotic cell cycle | 44/3246 | 142/18723 | 4.66e-05 | 5.21e-04 | 44 |
GO:003105612 | Prostate | Tumor | regulation of histone modification | 46/3246 | 152/18723 | 6.07e-05 | 6.59e-04 | 46 |
GO:004578714 | Prostate | Tumor | positive regulation of cell cycle | 81/3246 | 313/18723 | 8.45e-05 | 8.46e-04 | 81 |
GO:000647912 | Prostate | Tumor | protein methylation | 52/3246 | 181/18723 | 9.58e-05 | 9.35e-04 | 52 |
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 |