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:00182057 | Esophagus | HGIN | peptidyl-lysine modification | 88/2587 | 376/18723 | 2.99e-07 | 1.39e-05 | 88 |
GO:005105214 | Esophagus | HGIN | regulation of DNA metabolic process | 79/2587 | 359/18723 | 1.38e-05 | 3.85e-04 | 79 |
GO:00165708 | Esophagus | HGIN | histone modification | 92/2587 | 463/18723 | 1.70e-04 | 3.30e-03 | 92 |
GO:00064735 | Esophagus | HGIN | protein acetylation | 45/2587 | 201/18723 | 6.17e-04 | 8.58e-03 | 45 |
GO:003292210 | Esophagus | HGIN | circadian regulation of gene expression | 20/2587 | 68/18723 | 6.35e-04 | 8.73e-03 | 20 |
GO:00310568 | Esophagus | HGIN | regulation of histone modification | 36/2587 | 152/18723 | 7.06e-04 | 9.52e-03 | 36 |
GO:00439844 | Esophagus | HGIN | histone H4-K16 acetylation | 9/2587 | 20/18723 | 7.18e-04 | 9.60e-03 | 9 |
GO:00183945 | Esophagus | HGIN | peptidyl-lysine acetylation | 39/2587 | 169/18723 | 7.46e-04 | 9.90e-03 | 39 |
GO:00435435 | Esophagus | HGIN | protein acylation | 51/2587 | 243/18723 | 1.33e-03 | 1.57e-02 | 51 |
GO:00439675 | Esophagus | HGIN | histone H4 acetylation | 19/2587 | 67/18723 | 1.39e-03 | 1.63e-02 | 19 |
GO:0018027 | Esophagus | HGIN | peptidyl-lysine dimethylation | 10/2587 | 26/18723 | 1.60e-03 | 1.79e-02 | 10 |
GO:000762318 | Esophagus | HGIN | circadian rhythm | 45/2587 | 210/18723 | 1.60e-03 | 1.79e-02 | 45 |
GO:00064755 | Esophagus | HGIN | internal protein amino acid acetylation | 36/2587 | 160/18723 | 1.87e-03 | 2.01e-02 | 36 |
GO:00310604 | Esophagus | HGIN | regulation of histone methylation | 19/2587 | 69/18723 | 2.03e-03 | 2.13e-02 | 19 |
GO:00515714 | Esophagus | HGIN | positive regulation of histone H3-K4 methylation | 8/2587 | 19/18723 | 2.40e-03 | 2.41e-02 | 8 |
GO:00310624 | Esophagus | HGIN | positive regulation of histone methylation | 13/2587 | 41/18723 | 2.62e-03 | 2.58e-02 | 13 |
GO:00183935 | Esophagus | HGIN | internal peptidyl-lysine acetylation | 35/2587 | 158/18723 | 2.82e-03 | 2.75e-02 | 35 |
GO:00349688 | Esophagus | HGIN | histone lysine methylation | 27/2587 | 115/18723 | 3.51e-03 | 3.24e-02 | 27 |
GO:00064798 | Esophagus | HGIN | protein methylation | 38/2587 | 181/18723 | 5.05e-03 | 4.22e-02 | 38 |
GO:00082138 | Esophagus | HGIN | protein alkylation | 38/2587 | 181/18723 | 5.05e-03 | 4.22e-02 | 38 |
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 | rs782705469 | c.8432N>A | p.Arg2811His | p.R2811H | Q03164 | protein_coding | deleterious_low_confidence(0) | probably_damaging(0.991) | TCGA-AX-A2HD-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | III/IV | Unknown | Unknown | SD |
KMT2A | SNV | Missense_Mutation | | c.10843N>A | p.Ala3615Thr | p.A3615T | Q03164 | protein_coding | tolerated_low_confidence(0.41) | benign(0) | TCGA-AX-A2HD-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | III/IV | Unknown | Unknown | SD |
KMT2A | SNV | Missense_Mutation | novel | c.6308N>T | p.Thr2103Ile | p.T2103I | Q03164 | protein_coding | tolerated(0.05) | benign(0.006) | TCGA-AX-A2HJ-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
KMT2A | SNV | Missense_Mutation | novel | c.10816G>A | p.Glu3606Lys | p.E3606K | Q03164 | protein_coding | tolerated_low_confidence(0.12) | benign(0.015) | TCGA-AX-A2IO-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Chemotherapy | carboplatin | SD |
KMT2A | SNV | Missense_Mutation | | c.8363N>A | p.Ser2788Tyr | p.S2788Y | Q03164 | protein_coding | deleterious_low_confidence(0) | benign(0.172) | TCGA-B5-A11E-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
KMT2A | SNV | Missense_Mutation | | c.11612N>A | p.Thr3871Asn | p.T3871N | Q03164 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-B5-A11E-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
KMT2A | SNV | Missense_Mutation | | c.9148N>A | p.Val3050Met | p.V3050M | Q03164 | protein_coding | deleterious_low_confidence(0.01) | benign(0.172) | TCGA-B5-A11J-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
KMT2A | SNV | Missense_Mutation | | c.7873C>T | p.Arg2625Cys | p.R2625C | Q03164 | protein_coding | deleterious_low_confidence(0) | probably_damaging(0.996) | TCGA-B5-A11O-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | PD |
KMT2A | SNV | Missense_Mutation | novel | c.1469C>T | p.Ser490Phe | p.S490F | Q03164 | protein_coding | deleterious_low_confidence(0) | probably_damaging(0.996) | TCGA-B5-A1MR-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | III/IV | Unknown | Unknown | SD |
KMT2A | SNV | Missense_Mutation | novel | c.2422G>A | p.Glu808Lys | p.E808K | Q03164 | protein_coding | deleterious_low_confidence(0.03) | benign(0.003) | TCGA-B5-A1MR-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | III/IV | Unknown | Unknown | 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 | |