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Gene: KMT2D |
Gene summary for KMT2D |
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Gene information | Species | Human | Gene symbol | KMT2D | Gene ID | 8085 |
Gene name | lysine methyltransferase 2D | |
Gene Alias | AAD10 | |
Cytomap | 12q13.12 | |
Gene Type | protein-coding | GO ID | GO:0000003 | UniProtAcc | O14686 |
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Malignant transformation analysis |
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Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
8085 | KMT2D | NAFLD1 | Human | Liver | NAFLD | 1.71e-02 | 3.79e-01 | -0.04 |
8085 | KMT2D | HCC1_Meng | Human | Liver | HCC | 1.03e-26 | -5.81e-03 | 0.0246 |
8085 | KMT2D | HCC2_Meng | Human | Liver | HCC | 1.88e-03 | 7.37e-03 | 0.0107 |
8085 | KMT2D | HCC2 | Human | Liver | HCC | 4.38e-12 | 2.79e+00 | 0.5341 |
8085 | KMT2D | S014 | Human | Liver | HCC | 5.35e-08 | 4.58e-01 | 0.2254 |
8085 | KMT2D | S015 | Human | Liver | HCC | 8.20e-10 | 5.17e-01 | 0.2375 |
8085 | KMT2D | S016 | Human | Liver | HCC | 7.27e-13 | 5.04e-01 | 0.2243 |
8085 | KMT2D | S027 | Human | Liver | HCC | 2.02e-07 | 6.06e-01 | 0.2446 |
8085 | KMT2D | S028 | Human | Liver | HCC | 1.67e-15 | 6.83e-01 | 0.2503 |
8085 | KMT2D | S029 | Human | Liver | HCC | 2.66e-11 | 5.24e-01 | 0.2581 |
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Tissue | Expression Dynamics | Abbreviation |
Liver | ![]() | HCC: Hepatocellular carcinoma |
NAFLD: Non-alcoholic fatty liver disease |
∗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. |
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Malignant transformation related pathway analysis |
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Tissue | Disease Stage | Enriched GO biological Processes |
Colorectum | AD | ![]() |
Colorectum | SER | ![]() |
Colorectum | MSS | ![]() |
Colorectum | MSI-H | ![]() |
Colorectum | FAP | ![]() |
∗Top 15 enriched GO BP terms are showed in the bar plot of each disease state in each tissue. Each row represents a significant GO biological process which is colored according to the -log10(p.adjust). |
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GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:00485457 | Liver | NAFLD | response to steroid hormone | 75/1882 | 339/18723 | 3.44e-11 | 1.12e-08 | 75 |
GO:00165703 | Liver | NAFLD | histone modification | 90/1882 | 463/18723 | 5.74e-10 | 1.28e-07 | 90 |
GO:00713836 | Liver | NAFLD | cellular response to steroid hormone stimulus | 48/1882 | 204/18723 | 1.50e-08 | 1.83e-06 | 48 |
GO:00305226 | Liver | NAFLD | intracellular receptor signaling pathway | 55/1882 | 265/18723 | 1.39e-07 | 1.03e-05 | 55 |
GO:00160495 | Liver | NAFLD | cell growth | 85/1882 | 482/18723 | 1.75e-07 | 1.25e-05 | 85 |
GO:0018205 | Liver | NAFLD | peptidyl-lysine modification | 65/1882 | 376/18723 | 9.42e-06 | 3.02e-04 | 65 |
GO:00097556 | Liver | NAFLD | hormone-mediated signaling pathway | 39/1882 | 190/18723 | 1.15e-05 | 3.58e-04 | 39 |
GO:00485884 | Liver | NAFLD | developmental cell growth | 45/1882 | 234/18723 | 1.50e-05 | 4.38e-04 | 45 |
GO:00165713 | Liver | NAFLD | histone methylation | 29/1882 | 141/18723 | 1.40e-04 | 2.63e-03 | 29 |
GO:00434016 | Liver | NAFLD | steroid hormone mediated signaling pathway | 28/1882 | 136/18723 | 1.78e-04 | 3.14e-03 | 28 |
GO:00349682 | Liver | NAFLD | histone lysine methylation | 24/1882 | 115/18723 | 4.06e-04 | 6.02e-03 | 24 |
GO:00305185 | Liver | NAFLD | intracellular steroid hormone receptor signaling pathway | 24/1882 | 116/18723 | 4.64e-04 | 6.74e-03 | 24 |
GO:00064793 | Liver | NAFLD | protein methylation | 33/1882 | 181/18723 | 5.36e-04 | 7.35e-03 | 33 |
GO:00082133 | Liver | NAFLD | protein alkylation | 33/1882 | 181/18723 | 5.36e-04 | 7.35e-03 | 33 |
GO:0018023 | Liver | NAFLD | peptidyl-lysine trimethylation | 13/1882 | 50/18723 | 1.04e-03 | 1.22e-02 | 13 |
GO:0018022 | Liver | NAFLD | peptidyl-lysine methylation | 24/1882 | 131/18723 | 2.70e-03 | 2.47e-02 | 24 |
GO:0043414 | Liver | NAFLD | macromolecule methylation | 47/1882 | 316/18723 | 4.08e-03 | 3.41e-02 | 47 |
GO:00331433 | Liver | NAFLD | regulation of intracellular steroid hormone receptor signaling pathway | 15/1882 | 74/18723 | 6.18e-03 | 4.62e-02 | 15 |
GO:00305203 | Liver | NAFLD | intracellular estrogen receptor signaling pathway | 12/1882 | 54/18723 | 6.44e-03 | 4.69e-02 | 12 |
GO:001657021 | Liver | HCC | histone modification | 283/7958 | 463/18723 | 2.68e-16 | 2.33e-14 | 283 |
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Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
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 |
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 |
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Cell-cell communication analysis |
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Ligand | Receptor | LRpair | Pathway | Tissue | Disease Stage |
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Single-cell gene regulatory network inference analysis |
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TF | Cell Type | Tissue | Disease Stage | Target Gene | RSS | Regulon Activity |
∗The dot plots of a searched regulon are shown for all cell subpopulations in each disease state of each tissue based on the regulon specific score inferred using pySCENIC and by calculating the average expression. |
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Somatic mutation of malignant transformation related genes |
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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 |
KMT2D | SNV | Missense_Mutation | c.15640N>T | p.Arg5214Cys | p.R5214C | O14686 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-V1-A9ZK-01 | Prostate | prostate adenocarcinoma | Male | >=65 | 8 | Unknown | Unknown | SD | |
KMT2D | SNV | Missense_Mutation | novel | c.15406C>T | p.His5136Tyr | p.H5136Y | O14686 | protein_coding | deleterious(0) | probably_damaging(0.998) | TCGA-XK-AAIW-01 | Prostate | prostate adenocarcinoma | Male | >=65 | 9 | Unknown | Unknown | PD |
KMT2D | SNV | Missense_Mutation | novel | c.15253C>T | p.His5085Tyr | p.H5085Y | O14686 | protein_coding | deleterious(0) | possibly_damaging(0.666) | TCGA-XK-AAIW-01 | Prostate | prostate adenocarcinoma | Male | >=65 | 9 | Unknown | Unknown | PD |
KMT2D | SNV | Missense_Mutation | rs374216845 | c.6284G>A | p.Arg2095His | p.R2095H | O14686 | protein_coding | deleterious(0.01) | probably_damaging(0.997) | TCGA-XK-AAIW-01 | Prostate | prostate adenocarcinoma | Male | >=65 | 9 | Unknown | Unknown | PD |
KMT2D | SNV | Missense_Mutation | rs377761041 | c.1793G>A | p.Arg598His | p.R598H | O14686 | protein_coding | tolerated_low_confidence(0.12) | benign(0.089) | TCGA-XK-AAIW-01 | Prostate | prostate adenocarcinoma | Male | >=65 | 9 | Unknown | Unknown | PD |
KMT2D | SNV | Missense_Mutation | novel | c.10639N>T | p.Arg3547Cys | p.R3547C | O14686 | protein_coding | deleterious(0) | probably_damaging(0.997) | TCGA-ZG-A9L5-01 | Prostate | prostate adenocarcinoma | Male | <65 | 9 | Unknown | Unknown | SD |
KMT2D | SNV | Missense_Mutation | novel | c.10312G>T | p.Val3438Leu | p.V3438L | O14686 | protein_coding | deleterious(0) | probably_damaging(0.987) | TCGA-ZG-A9MC-01 | Prostate | prostate adenocarcinoma | Male | >=65 | 9 | Unknown | Unknown | SD |
KMT2D | deletion | In_Frame_Del | novel | c.16271_16285delNNNNNNNNNNNNNNN | p.Ile5424_Gly5428del | p.I5424_G5428del | O14686 | protein_coding | TCGA-HC-7738-01 | Prostate | prostate adenocarcinoma | Male | <65 | 7 | Unknown | Unknown | PD | ||
KMT2D | insertion | Frame_Shift_Ins | novel | c.5445_5446insT | p.Glu1816Ter | p.E1816* | O14686 | protein_coding | TCGA-HI-7170-01 | Prostate | prostate adenocarcinoma | Male | <65 | 6 | Unknown | Unknown | SD | ||
KMT2D | insertion | Frame_Shift_Ins | novel | c.871dupT | p.Cys291LeufsTer2 | p.C291Lfs*2 | O14686 | protein_coding | TCGA-J4-AAU2-01 | Prostate | prostate adenocarcinoma | Male | <65 | 6 | Unknown | Unknown | SD |
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Related drugs of malignant transformation related genes |
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(DGIdb 4.0) |
Entrez ID | Symbol | Category | Interaction Types | Drug Claim Name | Drug Name | PMIDs |
8085 | KMT2D | METHYL TRANSFERASE, ENZYME, CLINICALLY ACTIONABLE | HDAC INHIBITOR AR-42 | 25273096 |
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