Tissue | Expression Dynamics | Abbreviation |
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/KMT2A_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/KMT2A_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/KMT2A_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/KMT2A_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/KMT2A_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/KMT2A_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/KMT2A_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:00180228 | Skin | AK | peptidyl-lysine methylation | 27/1910 | 131/18723 | 2.87e-04 | 3.00e-03 | 27 |
GO:00183946 | Skin | AK | peptidyl-lysine acetylation | 32/1910 | 169/18723 | 4.20e-04 | 4.00e-03 | 32 |
GO:00435436 | Skin | AK | protein acylation | 42/1910 | 243/18723 | 4.59e-04 | 4.28e-03 | 42 |
GO:00515683 | Skin | AK | histone H3-K4 methylation | 15/1910 | 59/18723 | 6.63e-04 | 5.70e-03 | 15 |
GO:00183936 | Skin | AK | internal peptidyl-lysine acetylation | 29/1910 | 158/18723 | 1.27e-03 | 9.63e-03 | 29 |
GO:00310605 | Skin | AK | regulation of histone methylation | 16/1910 | 69/18723 | 1.30e-03 | 9.85e-03 | 16 |
GO:00165736 | Skin | AK | histone acetylation | 28/1910 | 152/18723 | 1.44e-03 | 1.06e-02 | 28 |
GO:00064756 | Skin | AK | internal protein amino acid acetylation | 29/1910 | 160/18723 | 1.55e-03 | 1.12e-02 | 29 |
GO:19019836 | Skin | AK | regulation of protein acetylation | 17/1910 | 77/18723 | 1.66e-03 | 1.18e-02 | 17 |
GO:00515693 | Skin | AK | regulation of histone H3-K4 methylation | 9/1910 | 31/18723 | 2.95e-03 | 1.87e-02 | 9 |
GO:00434144 | Skin | AK | macromolecule methylation | 48/1910 | 316/18723 | 3.28e-03 | 2.01e-02 | 48 |
GO:00515715 | Skin | AK | positive regulation of histone H3-K4 methylation | 6/1910 | 19/18723 | 9.42e-03 | 4.60e-02 | 6 |
GO:20007565 | Skin | AK | regulation of peptidyl-lysine acetylation | 13/1910 | 63/18723 | 1.01e-02 | 4.81e-02 | 13 |
GO:0048511110 | Skin | SCCIS | rhythmic process | 35/919 | 298/18723 | 1.63e-06 | 9.13e-05 | 35 |
GO:0007623110 | Skin | SCCIS | circadian rhythm | 27/919 | 210/18723 | 4.64e-06 | 1.94e-04 | 27 |
GO:003292217 | Skin | SCCIS | circadian regulation of gene expression | 13/919 | 68/18723 | 2.24e-05 | 6.50e-04 | 13 |
GO:001657016 | Skin | SCCIS | histone modification | 37/919 | 463/18723 | 2.53e-03 | 2.44e-02 | 37 |
GO:001657024 | Skin | cSCC | histone modification | 179/4864 | 463/18723 | 9.65e-10 | 3.74e-08 | 179 |
GO:000762323 | Skin | cSCC | circadian rhythm | 89/4864 | 210/18723 | 1.55e-07 | 3.51e-06 | 89 |
GO:005105217 | Skin | cSCC | regulation of DNA metabolic process | 136/4864 | 359/18723 | 3.83e-07 | 7.58e-06 | 136 |
Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
hsa052028 | Esophagus | ESCC | Transcriptional misregulation in cancer | 116/4205 | 193/8465 | 2.08e-03 | 5.95e-03 | 3.05e-03 | 116 |
hsa0031010 | Esophagus | ESCC | Lysine degradation | 41/4205 | 63/8465 | 9.63e-03 | 2.27e-02 | 1.16e-02 | 41 |
hsa0520213 | Esophagus | ESCC | Transcriptional misregulation in cancer | 116/4205 | 193/8465 | 2.08e-03 | 5.95e-03 | 3.05e-03 | 116 |
hsa0031013 | Esophagus | ESCC | Lysine degradation | 41/4205 | 63/8465 | 9.63e-03 | 2.27e-02 | 1.16e-02 | 41 |
hsa003108 | Liver | NAFLD | Lysine degradation | 21/1043 | 63/8465 | 1.09e-05 | 3.58e-04 | 2.89e-04 | 21 |
hsa0031011 | Liver | NAFLD | Lysine degradation | 21/1043 | 63/8465 | 1.09e-05 | 3.58e-04 | 2.89e-04 | 21 |
hsa0031021 | Liver | Cirrhotic | Lysine degradation | 29/2530 | 63/8465 | 4.81e-03 | 1.74e-02 | 1.07e-02 | 29 |
hsa0031031 | Liver | Cirrhotic | Lysine degradation | 29/2530 | 63/8465 | 4.81e-03 | 1.74e-02 | 1.07e-02 | 29 |
hsa0031041 | Liver | HCC | Lysine degradation | 47/4020 | 63/8465 | 1.02e-05 | 7.58e-05 | 4.22e-05 | 47 |
hsa0031051 | Liver | HCC | Lysine degradation | 47/4020 | 63/8465 | 1.02e-05 | 7.58e-05 | 4.22e-05 | 47 |
hsa052026 | Lung | IAC | Transcriptional misregulation in cancer | 40/1053 | 193/8465 | 6.90e-04 | 5.90e-03 | 3.92e-03 | 40 |
hsa0520211 | Lung | IAC | Transcriptional misregulation in cancer | 40/1053 | 193/8465 | 6.90e-04 | 5.90e-03 | 3.92e-03 | 40 |
hsa052022 | Lung | AIS | Transcriptional misregulation in cancer | 39/961 | 193/8465 | 2.15e-04 | 2.41e-03 | 1.54e-03 | 39 |
hsa0031022 | Lung | AIS | Lysine degradation | 16/961 | 63/8465 | 1.41e-03 | 9.49e-03 | 6.07e-03 | 16 |
hsa052023 | Lung | AIS | Transcriptional misregulation in cancer | 39/961 | 193/8465 | 2.15e-04 | 2.41e-03 | 1.54e-03 | 39 |
hsa0031032 | Lung | AIS | Lysine degradation | 16/961 | 63/8465 | 1.41e-03 | 9.49e-03 | 6.07e-03 | 16 |
hsa052027 | Prostate | BPH | Transcriptional misregulation in cancer | 53/1718 | 193/8465 | 9.56e-03 | 2.92e-02 | 1.81e-02 | 53 |
hsa0520212 | Prostate | BPH | Transcriptional misregulation in cancer | 53/1718 | 193/8465 | 9.56e-03 | 2.92e-02 | 1.81e-02 | 53 |
hsa0520221 | Prostate | Tumor | Transcriptional misregulation in cancer | 59/1791 | 193/8465 | 1.22e-03 | 5.26e-03 | 3.26e-03 | 59 |
hsa0520231 | Prostate | Tumor | Transcriptional misregulation in cancer | 59/1791 | 193/8465 | 1.22e-03 | 5.26e-03 | 3.26e-03 | 59 |
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 |
KMT2A | SNV | Missense_Mutation | novel | c.9043N>A | p.Val3015Ile | p.V3015I | Q03164 | protein_coding | deleterious_low_confidence(0) | benign(0.012) | TCGA-A1-A0SM-01 | Breast | breast invasive carcinoma | Male | >=65 | I/II | Unknown | Unknown | SD |
KMT2A | SNV | Missense_Mutation | | c.8615N>T | p.Ser2872Leu | p.S2872L | Q03164 | protein_coding | deleterious_low_confidence(0.01) | benign(0) | TCGA-A2-A0EY-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | SD |
KMT2A | SNV | Missense_Mutation | | c.9143A>C | p.Lys3048Thr | p.K3048T | Q03164 | protein_coding | deleterious_low_confidence(0) | probably_damaging(0.994) | TCGA-A2-A0YJ-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | cytoxan | PD |
KMT2A | SNV | Missense_Mutation | | c.10139C>T | p.Ser3380Leu | p.S3380L | Q03164 | protein_coding | deleterious_low_confidence(0.01) | possibly_damaging(0.518) | TCGA-AC-A23H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
KMT2A | SNV | Missense_Mutation | novel | c.11231N>A | p.Arg3744Gln | p.R3744Q | Q03164 | protein_coding | tolerated(0.22) | possibly_damaging(0.819) | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
KMT2A | SNV | Missense_Mutation | novel | c.6203N>A | p.Cys2068Tyr | p.C2068Y | Q03164 | protein_coding | deleterious(0.01) | probably_damaging(0.998) | TCGA-AO-A0J3-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | cyclophosphamide | SD |
KMT2A | SNV | Missense_Mutation | rs782339326 | c.1838N>A | p.Arg613Gln | p.R613Q | Q03164 | protein_coding | deleterious_low_confidence(0) | probably_damaging(0.992) | TCGA-BH-A0HF-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | arimidex | SD |
KMT2A | SNV | Missense_Mutation | | c.6509N>A | p.Ser2170Asn | p.S2170N | Q03164 | protein_coding | tolerated(0.11) | benign(0.001) | TCGA-BH-A0HF-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | arimidex | SD |
KMT2A | SNV | Missense_Mutation | | c.3005N>G | p.Ser1002Cys | p.S1002C | Q03164 | protein_coding | deleterious_low_confidence(0) | benign(0.436) | TCGA-C8-A27B-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | 5-fluorouracil | CR |
KMT2A | SNV | Missense_Mutation | | c.5524N>G | p.Thr1842Ala | p.T1842A | Q03164 | protein_coding | tolerated(0.5) | benign(0) | TCGA-D8-A1XK-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicine+cyclophosphamide | SD |
Entrez ID | Symbol | Category | Interaction Types | Drug Claim Name | Drug Name | PMIDs |
4297 | KMT2A | METHYL TRANSFERASE, ENZYME, CLINICALLY ACTIONABLE, DRUGGABLE GENOME | | DIFLUFENICAN | DIFLUFENICAN | |
4297 | KMT2A | METHYL TRANSFERASE, ENZYME, CLINICALLY ACTIONABLE, DRUGGABLE GENOME | | GNF-PF-4029 | CHEMBL596633 | |
4297 | KMT2A | METHYL TRANSFERASE, ENZYME, CLINICALLY ACTIONABLE, DRUGGABLE GENOME | | CLODRONATE DISODIUM | CLODRONATE DISODIUM | |
4297 | KMT2A | METHYL TRANSFERASE, ENZYME, CLINICALLY ACTIONABLE, DRUGGABLE GENOME | | METHYLENE BLUE | METHYLENE BLUE | |
4297 | KMT2A | METHYL TRANSFERASE, ENZYME, CLINICALLY ACTIONABLE, DRUGGABLE GENOME | | TANNIC ACID | TANNIC ACID | |
4297 | KMT2A | METHYL TRANSFERASE, ENZYME, CLINICALLY ACTIONABLE, DRUGGABLE GENOME | | AMINOQUINURIDE | AMINOQUINURIDE | |
4297 | KMT2A | METHYL TRANSFERASE, ENZYME, CLINICALLY ACTIONABLE, DRUGGABLE GENOME | | DAUNORUBICIN HYDROCHLORIDE | DAUNORUBICIN HYDROCHLORIDE | |
4297 | KMT2A | METHYL TRANSFERASE, ENZYME, CLINICALLY ACTIONABLE, DRUGGABLE GENOME | | NSC-95397 | CHEMBL429095 | |
4297 | KMT2A | METHYL TRANSFERASE, ENZYME, CLINICALLY ACTIONABLE, DRUGGABLE GENOME | | NSC-69187 | CHEMBL19954 | |
4297 | KMT2A | METHYL TRANSFERASE, ENZYME, CLINICALLY ACTIONABLE, DRUGGABLE GENOME | | EMETINE HYDROCHLORIDE | EMETINE HYDROCHLORIDE | |