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Gene: ENKD1 |
Gene summary for ENKD1 |
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Gene information | Species | Human | Gene symbol | ENKD1 | Gene ID | 84080 |
Gene name | enkurin domain containing 1 | |
Gene Alias | C16orf48 | |
Cytomap | 16q22.1 | |
Gene Type | protein-coding | GO ID | GO:0005575 | UniProtAcc | Q9H0I2 |
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Malignant transformation analysis |
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Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
84080 | ENKD1 | HCC1_Meng | Human | Liver | HCC | 4.84e-02 | -5.16e-02 | 0.0246 |
84080 | ENKD1 | HCC2_Meng | Human | Liver | HCC | 4.41e-06 | 5.30e-02 | 0.0107 |
84080 | ENKD1 | HCC2 | Human | Liver | HCC | 2.91e-03 | 2.19e+00 | 0.5341 |
84080 | ENKD1 | S014 | Human | Liver | HCC | 2.74e-02 | 1.21e-01 | 0.2254 |
84080 | ENKD1 | S028 | Human | Liver | HCC | 1.30e-14 | 5.34e-01 | 0.2503 |
84080 | ENKD1 | S029 | Human | Liver | HCC | 1.13e-08 | 3.65e-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 |
Thyroid | PTC | ![]() |
Thyroid | goiters | ![]() |
Thyroid | ATC | ![]() |
∗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 |
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Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
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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 |
ENKD1 | SNV | Missense_Mutation | rs778432021 | c.1002N>G | p.Ile334Met | p.I334M | Q9H0I2 | protein_coding | deleterious(0) | probably_damaging(0.996) | TCGA-IR-A3LL-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
ENKD1 | SNV | Missense_Mutation | rs150409822 | c.253N>G | p.Ser85Ala | p.S85A | Q9H0I2 | protein_coding | tolerated(0.08) | benign(0.1) | TCGA-AA-3663-01 | Colorectum | colon adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | SD |
ENKD1 | SNV | Missense_Mutation | c.294G>T | p.Lys98Asn | p.K98N | Q9H0I2 | protein_coding | deleterious(0.01) | possibly_damaging(0.84) | TCGA-AA-3966-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
ENKD1 | SNV | Missense_Mutation | rs777188035 | c.691N>T | p.Arg231Trp | p.R231W | Q9H0I2 | protein_coding | deleterious(0) | benign(0.425) | TCGA-AA-A00N-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | PD |
ENKD1 | SNV | Missense_Mutation | c.259N>T | p.Gly87Cys | p.G87C | Q9H0I2 | protein_coding | tolerated(0.11) | benign(0.003) | TCGA-AD-6889-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Chemotherapy | xeloda | PD | |
ENKD1 | SNV | Missense_Mutation | c.1037A>G | p.Asp346Gly | p.D346G | Q9H0I2 | protein_coding | deleterious_low_confidence(0.04) | benign(0) | TCGA-AZ-6601-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | PD | |
ENKD1 | SNV | Missense_Mutation | novel | c.806A>C | p.Asp269Ala | p.D269A | Q9H0I2 | protein_coding | deleterious(0) | possibly_damaging(0.686) | TCGA-CK-5915-01 | Colorectum | colon adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | SD |
ENKD1 | SNV | Missense_Mutation | novel | c.1003N>C | p.Phe335Leu | p.F335L | Q9H0I2 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-CM-6161-01 | Colorectum | colon adenocarcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
ENKD1 | SNV | Missense_Mutation | rs748373274 | c.754C>T | p.Arg252Cys | p.R252C | Q9H0I2 | protein_coding | deleterious(0) | probably_damaging(0.95) | TCGA-G4-6628-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD |
ENKD1 | deletion | In_Frame_Del | c.202_210delGAGCGCGGC | p.Glu68_Gly70del | p.E68_G70del | Q9H0I2 | protein_coding | TCGA-A6-6781-01 | Colorectum | colon adenocarcinoma | Male | <65 | III/IV | Chemotherapy | oxaliplatin | 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 |
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