Tissue | Expression Dynamics | Abbreviation |
Esophagus | | ESCC: Esophageal squamous cell carcinoma |
HGIN: High-grade intraepithelial neoplasias |
LGIN: Low-grade intraepithelial neoplasias |
Liver | | HCC: Hepatocellular carcinoma |
NAFLD: Non-alcoholic fatty liver disease |
Lung | | AAH: Atypical adenomatous hyperplasia |
AIS: Adenocarcinoma in situ |
IAC: Invasive lung adenocarcinoma |
MIA: Minimally invasive adenocarcinoma |
Oral Cavity | | EOLP: Erosive Oral lichen planus |
LP: leukoplakia |
NEOLP: Non-erosive oral lichen planus |
OSCC: Oral squamous cell carcinoma |
Prostate | | BPH: Benign Prostatic Hyperplasia |
Skin | | AK: Actinic keratosis |
cSCC: Cutaneous squamous cell carcinoma |
SCCIS:squamous cell carcinoma in situ |
Thyroid | | 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 | | c.1325N>A | p.Arg442Gln | p.R442Q | Q03164 | protein_coding | deleterious_low_confidence(0) | probably_damaging(0.992) | TCGA-E2-A574-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | SD |
KMT2A | SNV | Missense_Mutation | novel | c.4201N>T | p.Ile1401Phe | p.I1401F | Q03164 | protein_coding | deleterious(0) | probably_damaging(0.991) | TCGA-LL-A9Q3-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Immunotherapy | herceptin | CR |
KMT2A | insertion | Frame_Shift_Ins | novel | c.10399_10400insGACCACAACCCCTACAAGTAGTGCGTCAGTTCCA | p.Ile3468ProfsTer18 | p.I3468Pfs*18 | Q03164 | protein_coding | | | TCGA-A2-A0D1-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | taxotere | SD |
KMT2A | deletion | Frame_Shift_Del | | c.6809delN | p.Arg2271GlyfsTer6 | p.R2271Gfs*6 | Q03164 | protein_coding | | | TCGA-A2-A3Y0-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | CR |
KMT2A | insertion | Frame_Shift_Ins | novel | c.9016_9017insCAGTT | p.His3006ProfsTer12 | p.H3006Pfs*12 | Q03164 | protein_coding | | | TCGA-A8-A06X-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
KMT2A | insertion | Nonsense_Mutation | novel | c.9018_9019insCTATAAATATATAT | p.Ile3007LeufsTer2 | p.I3007Lfs*2 | Q03164 | protein_coding | | | TCGA-A8-A06X-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
KMT2A | insertion | In_Frame_Ins | novel | c.1585_1586insAGTTTAAGACAGGGAAGCTTCAAATAG | p.Arg529delinsLysPheLysThrGlyLysLeuGlnIleGly | p.R529delinsKFKTGKLQIG | Q03164 | protein_coding | | | TCGA-A8-A08H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
KMT2A | insertion | Frame_Shift_Ins | novel | c.2991_2992insGTCTTATTCGCAAACCAAT | p.Thr998ValfsTer9 | p.T998Vfs*9 | Q03164 | protein_coding | | | TCGA-A8-A095-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | 5-fluorouracil | CR |
KMT2A | deletion | Frame_Shift_Del | | c.5599delN | p.Pro1868GlnfsTer3 | p.P1868Qfs*3 | Q03164 | protein_coding | | | TCGA-AN-A0FW-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Unknown | Unknown | SD |
KMT2A | insertion | Nonsense_Mutation | novel | c.2247_2248insCCATACTTGGGTTAGGAAATGGCTGATGAGCTAGACT | p.Ser750ProfsTer5 | p.S750Pfs*5 | Q03164 | protein_coding | | | TCGA-B6-A0RG-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | 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 | |