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:003009923 | Lung | AAH | myeloid cell differentiation | 29/613 | 381/18723 | 2.44e-05 | 3.42e-03 | 29 |
GO:003410123 | Lung | AAH | erythrocyte homeostasis | 14/613 | 129/18723 | 8.57e-05 | 6.54e-03 | 14 |
GO:000226223 | Lung | AAH | myeloid cell homeostasis | 15/613 | 157/18723 | 2.05e-04 | 1.13e-02 | 15 |
GO:003021822 | Lung | AAH | erythrocyte differentiation | 12/613 | 120/18723 | 5.74e-04 | 2.23e-02 | 12 |
GO:001657121 | Lung | AAH | histone methylation | 13/613 | 141/18723 | 7.49e-04 | 2.63e-02 | 13 |
GO:000647921 | Lung | AAH | protein methylation | 15/613 | 181/18723 | 9.29e-04 | 2.92e-02 | 15 |
GO:000821321 | Lung | AAH | protein alkylation | 15/613 | 181/18723 | 9.29e-04 | 2.92e-02 | 15 |
GO:003496821 | Lung | AAH | histone lysine methylation | 11/613 | 115/18723 | 1.39e-03 | 3.63e-02 | 11 |
GO:001657022 | Lung | MIAC | histone modification | 45/967 | 463/18723 | 3.58e-05 | 1.97e-03 | 45 |
GO:004477221 | Lung | MIAC | mitotic cell cycle phase transition | 41/967 | 424/18723 | 8.79e-05 | 3.92e-03 | 41 |
GO:003410132 | Lung | MIAC | erythrocyte homeostasis | 18/967 | 129/18723 | 1.13e-04 | 4.85e-03 | 18 |
GO:000226232 | Lung | MIAC | myeloid cell homeostasis | 20/967 | 157/18723 | 1.74e-04 | 6.43e-03 | 20 |
GO:00349683 | Lung | MIAC | histone lysine methylation | 16/967 | 115/18723 | 2.77e-04 | 8.81e-03 | 16 |
GO:00180222 | Lung | MIAC | peptidyl-lysine methylation | 17/967 | 131/18723 | 4.18e-04 | 1.20e-02 | 17 |
GO:003021831 | Lung | MIAC | erythrocyte differentiation | 16/967 | 120/18723 | 4.51e-04 | 1.25e-02 | 16 |
GO:004887223 | Lung | MIAC | homeostasis of number of cells | 27/967 | 272/18723 | 9.04e-04 | 1.92e-02 | 27 |
GO:001657131 | Lung | MIAC | histone methylation | 17/967 | 141/18723 | 9.77e-04 | 2.04e-02 | 17 |
GO:000647931 | Lung | MIAC | protein methylation | 20/967 | 181/18723 | 1.11e-03 | 2.19e-02 | 20 |
GO:000821331 | Lung | MIAC | protein alkylation | 20/967 | 181/18723 | 1.11e-03 | 2.19e-02 | 20 |
GO:001820511 | Lung | MIAC | peptidyl-lysine modification | 34/967 | 376/18723 | 1.12e-03 | 2.19e-02 | 34 |
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 |