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Gene: HEMK1 |
Gene summary for HEMK1 |
 Gene summary. |
| Gene information | Species | Human | Gene symbol | HEMK1 | Gene ID | 51409 |
| Gene name | HemK methyltransferase family member 1 | |
| Gene Alias | HEMK | |
| Cytomap | 3p21.31 | |
| Gene Type | protein-coding | GO ID | GO:0006139 | UniProtAcc | A0A140VK98 |
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Malignant transformation analysis |
| Identification of the aberrant gene expression in precancerous and cancerous lesions by comparing the gene expression of stem-like cells in diseased tissues with normal stem cells |
| Malignant transformation involving gene list. |
| Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
| 51409 | HEMK1 | HCC1_Meng | Human | Liver | HCC | 1.97e-34 | -5.62e-03 | 0.0246 |
| 51409 | HEMK1 | HCC2_Meng | Human | Liver | HCC | 1.14e-02 | -4.99e-02 | 0.0107 |
| 51409 | HEMK1 | S027 | Human | Liver | HCC | 4.78e-05 | 5.51e-01 | 0.2446 |
| 51409 | HEMK1 | S028 | Human | Liver | HCC | 9.14e-12 | 5.44e-01 | 0.2503 |
| 51409 | HEMK1 | S029 | Human | Liver | HCC | 3.45e-10 | 5.73e-01 | 0.2581 |
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| Transcriptomic changes along malignancy continuum. |
| 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 |
| Find out the enriched GO biological processes and KEGG pathways involved in transition from healthy to precancer to cancer |
| Figure of enriched GO biological processes. |
| 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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| Enriched GO biological processes. |
| GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
| GO:00434141 | Liver | HCC | macromolecule methylation | 183/7958 | 316/18723 | 2.00e-08 | 4.72e-07 | 183 |
| GO:0032259 | Liver | HCC | methylation | 206/7958 | 364/18723 | 3.35e-08 | 7.53e-07 | 206 |
| GO:00064792 | Liver | HCC | protein methylation | 111/7958 | 181/18723 | 2.36e-07 | 4.18e-06 | 111 |
| GO:00082132 | Liver | HCC | protein alkylation | 111/7958 | 181/18723 | 2.36e-07 | 4.18e-06 | 111 |
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| Enriched KEGG pathways. |
| Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
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Cell-cell communication analysis |
| Identification of potential cell-cell interactions between two cell types and their ligand-receptor pairs for different disease states |
| Ligand | Receptor | LRpair | Pathway | Tissue | Disease Stage |
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Single-cell gene regulatory network inference analysis |
| Find out the significant the regulons (TFs) and the target genes of each regulon across cell types for different disease states |
| 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 |
| Annotation of somatic variants for genes involved in malignant transformation |
| 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 |
| HEMK1 | SNV | Missense_Mutation | c.208N>T | p.His70Tyr | p.H70Y | Q9Y5R4 | protein_coding | tolerated(0.13) | benign(0.134) | TCGA-AC-A23H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD | |
| HEMK1 | SNV | Missense_Mutation | novel | c.144N>T | p.Trp48Cys | p.W48C | Q9Y5R4 | protein_coding | deleterious(0) | probably_damaging(0.996) | TCGA-AR-A0TU-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unspecific | Doxorubicin | SD |
| HEMK1 | SNV | Missense_Mutation | c.662N>T | p.Ser221Leu | p.S221L | Q9Y5R4 | protein_coding | tolerated(0.44) | benign(0.02) | TCGA-C8-A132-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD | |
| HEMK1 | SNV | Missense_Mutation | c.83N>T | p.Ser28Leu | p.S28L | Q9Y5R4 | protein_coding | tolerated(0.18) | benign(0) | TCGA-E2-A1IN-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | arimidex | SD | |
| HEMK1 | insertion | Frame_Shift_Ins | novel | c.545_546insGATT | p.Gln183IlefsTer10 | p.Q183Ifs*10 | Q9Y5R4 | protein_coding | TCGA-A8-A09C-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | ||
| HEMK1 | insertion | In_Frame_Ins | novel | c.546_547insTTGGCCACCATGAAACCA | p.Pro182_Gln183insLeuAlaThrMetLysPro | p.P182_Q183insLATMKP | Q9Y5R4 | protein_coding | TCGA-A8-A09C-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | ||
| HEMK1 | SNV | Missense_Mutation | c.490N>G | p.Leu164Val | p.L164V | Q9Y5R4 | protein_coding | deleterious(0) | probably_damaging(0.992) | TCGA-EK-A3GK-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD | |
| HEMK1 | SNV | Missense_Mutation | c.4N>C | p.Glu2Gln | p.E2Q | Q9Y5R4 | protein_coding | tolerated_low_confidence(0.25) | benign(0.007) | TCGA-D5-5541-01 | Colorectum | colon adenocarcinoma | Male | <65 | III/IV | Chemotherapy | calcium | SD | |
| HEMK1 | SNV | Missense_Mutation | novel | c.676N>G | p.Thr226Ala | p.T226A | Q9Y5R4 | protein_coding | tolerated(0.99) | benign(0.001) | TCGA-A5-A0G2-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
| HEMK1 | SNV | Missense_Mutation | novel | c.122N>T | p.Ala41Val | p.A41V | Q9Y5R4 | protein_coding | tolerated(0.11) | benign(0.026) | TCGA-AJ-A3BH-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | Unknown | I/II | Unknown | Unknown | SD |
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Related drugs of malignant transformation related genes |
| Identification of chemicals and drugs interact with genes involved in malignant transfromation |
| (DGIdb 4.0) |
| Entrez ID | Symbol | Category | Interaction Types | Drug Claim Name | Drug Name | PMIDs |
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