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:003496814 | Esophagus | ESCC | histone lysine methylation | 72/8552 | 115/18723 | 1.85e-04 | 1.18e-03 | 72 |
GO:20007564 | Esophagus | ESCC | regulation of peptidyl-lysine acetylation | 43/8552 | 63/18723 | 2.43e-04 | 1.50e-03 | 43 |
GO:003106013 | Esophagus | ESCC | regulation of histone methylation | 46/8552 | 69/18723 | 3.46e-04 | 2.03e-03 | 46 |
GO:001802214 | Esophagus | ESCC | peptidyl-lysine methylation | 79/8552 | 131/18723 | 5.17e-04 | 2.86e-03 | 79 |
GO:004851118 | Esophagus | ESCC | rhythmic process | 164/8552 | 298/18723 | 6.80e-04 | 3.57e-03 | 164 |
GO:00485687 | Esophagus | ESCC | embryonic organ development | 228/8552 | 427/18723 | 7.28e-04 | 3.79e-03 | 228 |
GO:000762319 | Esophagus | ESCC | circadian rhythm | 119/8552 | 210/18723 | 8.47e-04 | 4.36e-03 | 119 |
GO:19019835 | Esophagus | ESCC | regulation of protein acetylation | 49/8552 | 77/18723 | 1.12e-03 | 5.60e-03 | 49 |
GO:00350653 | Esophagus | ESCC | regulation of histone acetylation | 36/8552 | 54/18723 | 1.49e-03 | 7.06e-03 | 36 |
GO:004398411 | Esophagus | ESCC | histone H4-K16 acetylation | 16/8552 | 20/18723 | 1.85e-03 | 8.40e-03 | 16 |
GO:003106211 | Esophagus | ESCC | positive regulation of histone methylation | 28/8552 | 41/18723 | 2.88e-03 | 1.21e-02 | 28 |
GO:0006304 | Esophagus | ESCC | DNA modification | 68/8552 | 120/18723 | 9.95e-03 | 3.42e-02 | 68 |
GO:005157111 | Esophagus | ESCC | positive regulation of histone H3-K4 methylation | 14/8552 | 19/18723 | 1.27e-02 | 4.21e-02 | 14 |
GO:00180231 | Esophagus | ESCC | peptidyl-lysine trimethylation | 31/8552 | 50/18723 | 1.48e-02 | 4.79e-02 | 31 |
GO:00165703 | Liver | NAFLD | histone modification | 90/1882 | 463/18723 | 5.74e-10 | 1.28e-07 | 90 |
GO:00485115 | Liver | NAFLD | rhythmic process | 56/1882 | 298/18723 | 3.03e-06 | 1.23e-04 | 56 |
GO:0018205 | Liver | NAFLD | peptidyl-lysine modification | 65/1882 | 376/18723 | 9.42e-06 | 3.02e-04 | 65 |
GO:00076236 | Liver | NAFLD | circadian rhythm | 42/1882 | 210/18723 | 1.06e-05 | 3.34e-04 | 42 |
GO:00165713 | Liver | NAFLD | histone methylation | 29/1882 | 141/18723 | 1.40e-04 | 2.63e-03 | 29 |
GO:0043543 | Liver | NAFLD | protein acylation | 43/1882 | 243/18723 | 1.70e-04 | 3.07e-03 | 43 |
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 | |