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Gene: DDRGK1 |
Gene summary for DDRGK1 |
 Gene summary. |
| Gene information | Species | Human | Gene symbol | DDRGK1 | Gene ID | 65992 |
| Gene name | DDRGK domain containing 1 | |
| Gene Alias | C20orf116 | |
| Cytomap | 20p13 | |
| Gene Type | protein-coding | GO ID | GO:0001501 | UniProtAcc | Q96HY6 |
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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 |
| 65992 | DDRGK1 | HTA11_3410_2000001011 | Human | Colorectum | AD | 1.94e-03 | 1.59e-01 | 0.0155 |
| 65992 | DDRGK1 | HTA11_2487_2000001011 | Human | Colorectum | SER | 3.25e-04 | 2.45e-01 | -0.1808 |
| 65992 | DDRGK1 | HTA11_1938_2000001011 | Human | Colorectum | AD | 8.89e-12 | 4.02e-01 | -0.0811 |
| 65992 | DDRGK1 | HTA11_347_2000001011 | Human | Colorectum | AD | 2.38e-09 | 2.53e-01 | -0.1954 |
| 65992 | DDRGK1 | HTA11_2112_2000001011 | Human | Colorectum | SER | 7.60e-03 | 5.04e-01 | -0.2196 |
| 65992 | DDRGK1 | HTA11_3361_2000001011 | Human | Colorectum | AD | 1.08e-02 | 2.27e-01 | -0.1207 |
| 65992 | DDRGK1 | HTA11_696_2000001011 | Human | Colorectum | AD | 3.42e-13 | 3.38e-01 | -0.1464 |
| 65992 | DDRGK1 | HTA11_866_2000001011 | Human | Colorectum | AD | 2.66e-03 | 1.71e-01 | -0.1001 |
| 65992 | DDRGK1 | HTA11_1391_2000001011 | Human | Colorectum | AD | 3.64e-14 | 4.43e-01 | -0.059 |
| 65992 | DDRGK1 | HTA11_2992_2000001011 | Human | Colorectum | SER | 3.30e-03 | 3.71e-01 | -0.1706 |
| 65992 | DDRGK1 | HTA11_5212_2000001011 | Human | Colorectum | AD | 3.99e-04 | 3.33e-01 | -0.2061 |
| 65992 | DDRGK1 | HTA11_866_3004761011 | Human | Colorectum | AD | 6.35e-13 | 3.61e-01 | 0.096 |
| 65992 | DDRGK1 | HTA11_6801_2000001011 | Human | Colorectum | SER | 1.57e-02 | 3.00e-01 | 0.0171 |
| 65992 | DDRGK1 | HTA11_10711_2000001011 | Human | Colorectum | AD | 2.36e-08 | 3.41e-01 | 0.0338 |
| 65992 | DDRGK1 | HTA11_7696_3000711011 | Human | Colorectum | AD | 5.86e-13 | 3.81e-01 | 0.0674 |
| 65992 | DDRGK1 | HTA11_6818_2000001011 | Human | Colorectum | AD | 1.58e-05 | 4.28e-01 | 0.0112 |
| 65992 | DDRGK1 | HTA11_99999970781_79442 | Human | Colorectum | MSS | 2.67e-04 | 2.18e-01 | 0.294 |
| 65992 | DDRGK1 | HTA11_99999965062_69753 | Human | Colorectum | MSI-H | 4.77e-02 | 5.06e-01 | 0.3487 |
| 65992 | DDRGK1 | HTA11_99999965104_69814 | Human | Colorectum | MSS | 9.11e-08 | 3.50e-01 | 0.281 |
| 65992 | DDRGK1 | HTA11_99999973899_84307 | Human | Colorectum | MSS | 1.07e-03 | 2.92e-01 | 0.2585 |
| Page: 1 2 3 4 5 6 7 8 |
| Transcriptomic changes along malignancy continuum. |
| Tissue | Expression Dynamics | Abbreviation |
| Colorectum (GSE201348) |  | FAP: Familial adenomatous polyposis |
| CRC: Colorectal cancer | ||
| Colorectum (HTA11) |  | AD: Adenomas |
| SER: Sessile serrated lesions | ||
| MSI-H: Microsatellite-high colorectal cancer | ||
| MSS: Microsatellite stable colorectal cancer | ||
| 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 | ||
| 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 |
| ∗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). |
| Page: 1 2 3 4 5 6 7 8 9 |
| Enriched GO biological processes. |
| GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
| GO:0061912 | Colorectum | AD | selective autophagy | 29/3918 | 68/18723 | 4.20e-05 | 7.39e-04 | 29 |
| GO:0030518 | Colorectum | AD | intracellular steroid hormone receptor signaling pathway | 43/3918 | 116/18723 | 4.61e-05 | 7.97e-04 | 43 |
| GO:0032435 | Colorectum | AD | negative regulation of proteasomal ubiquitin-dependent protein catabolic process | 18/3918 | 35/18723 | 6.33e-05 | 1.05e-03 | 18 |
| GO:0035966 | Colorectum | AD | response to topologically incorrect protein | 54/3918 | 159/18723 | 8.85e-05 | 1.36e-03 | 54 |
| GO:0035967 | Colorectum | AD | cellular response to topologically incorrect protein | 42/3918 | 116/18723 | 1.04e-04 | 1.56e-03 | 42 |
| GO:1905897 | Colorectum | AD | regulation of response to endoplasmic reticulum stress | 32/3918 | 82/18723 | 1.37e-04 | 1.95e-03 | 32 |
| GO:0051101 | Colorectum | AD | regulation of DNA binding | 42/3918 | 118/18723 | 1.62e-04 | 2.23e-03 | 42 |
| GO:0043388 | Colorectum | AD | positive regulation of DNA binding | 23/3918 | 56/18723 | 4.91e-04 | 5.32e-03 | 23 |
| GO:0007249 | Colorectum | AD | I-kappaB kinase/NF-kappaB signaling | 82/3918 | 281/18723 | 6.09e-04 | 6.40e-03 | 82 |
| GO:0006986 | Colorectum | AD | response to unfolded protein | 45/3918 | 137/18723 | 7.43e-04 | 7.48e-03 | 45 |
| GO:0034620 | Colorectum | AD | cellular response to unfolded protein | 33/3918 | 96/18723 | 1.53e-03 | 1.29e-02 | 33 |
| GO:1903573 | Colorectum | AD | negative regulation of response to endoplasmic reticulum stress | 18/3918 | 44/18723 | 2.06e-03 | 1.64e-02 | 18 |
| GO:0070972 | Colorectum | AD | protein localization to endoplasmic reticulum | 26/3918 | 74/18723 | 3.28e-03 | 2.40e-02 | 26 |
| GO:0051091 | Colorectum | AD | positive regulation of DNA-binding transcription factor activity | 73/3918 | 260/18723 | 3.52e-03 | 2.54e-02 | 73 |
| GO:0045787 | Colorectum | AD | positive regulation of cell cycle | 85/3918 | 313/18723 | 4.76e-03 | 3.22e-02 | 85 |
| GO:00421761 | Colorectum | SER | regulation of protein catabolic process | 126/2897 | 391/18723 | 5.33e-17 | 2.52e-14 | 126 |
| GO:19033621 | Colorectum | SER | regulation of cellular protein catabolic process | 91/2897 | 255/18723 | 1.22e-15 | 5.36e-13 | 91 |
| GO:19030501 | Colorectum | SER | regulation of proteolysis involved in cellular protein catabolic process | 77/2897 | 221/18723 | 7.85e-13 | 2.00e-10 | 77 |
| GO:00457321 | Colorectum | SER | positive regulation of protein catabolic process | 77/2897 | 231/18723 | 9.91e-12 | 1.90e-09 | 77 |
| GO:00104981 | Colorectum | SER | proteasomal protein catabolic process | 132/2897 | 490/18723 | 3.08e-11 | 5.55e-09 | 132 |
| Page: 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 23 24 25 26 27 28 29 30 31 32 33 34 35 36 37 38 39 40 41 42 43 44 45 46 |
| 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. |
| Page: 1 |
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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 |
| DDRGK1 | SNV | Missense_Mutation | rs751324528 | c.490N>T | p.Arg164Cys | p.R164C | Q96HY6 | protein_coding | deleterious(0) | probably_damaging(0.998) | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
| DDRGK1 | SNV | Missense_Mutation | c.559N>A | p.Glu187Lys | p.E187K | Q96HY6 | protein_coding | deleterious(0.03) | probably_damaging(0.992) | TCGA-C5-A1BM-01 | Cervix | cervical & endocervical cancer | Female | >=65 | I/II | Unknown | Unknown | SD | |
| DDRGK1 | SNV | Missense_Mutation | novel | c.131N>G | p.Ala44Gly | p.A44G | Q96HY6 | protein_coding | tolerated(0.14) | benign(0.027) | TCGA-C5-A8XH-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
| DDRGK1 | SNV | Missense_Mutation | c.205G>A | p.Asp69Asn | p.D69N | Q96HY6 | protein_coding | tolerated(1) | benign(0.07) | TCGA-AA-3984-01 | Colorectum | colon adenocarcinoma | Female | <65 | I/II | Unknown | Unknown | SD | |
| DDRGK1 | SNV | Missense_Mutation | rs763621314 | c.857N>A | p.Arg286Gln | p.R286Q | Q96HY6 | protein_coding | deleterious(0.02) | benign(0.041) | TCGA-CK-4951-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
| DDRGK1 | SNV | Missense_Mutation | novel | c.55N>A | p.Leu19Ile | p.L19I | Q96HY6 | protein_coding | tolerated(0.3) | benign(0) | TCGA-A5-A1OF-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
| DDRGK1 | SNV | Missense_Mutation | rs753666292 | c.367C>T | p.Arg123Trp | p.R123W | Q96HY6 | protein_coding | deleterious(0) | probably_damaging(0.986) | TCGA-AJ-A8CT-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
| DDRGK1 | SNV | Missense_Mutation | c.750N>T | p.Gln250His | p.Q250H | Q96HY6 | protein_coding | tolerated(0.05) | benign(0.202) | TCGA-AP-A0LM-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | cisplatin | SD | |
| DDRGK1 | SNV | Missense_Mutation | rs764215113 | c.341N>T | p.Ser114Leu | p.S114L | Q96HY6 | protein_coding | deleterious(0.05) | benign(0) | TCGA-AX-A2IO-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Chemotherapy | carboplatin | SD |
| DDRGK1 | SNV | Missense_Mutation | novel | c.813N>G | p.Ile271Met | p.I271M | Q96HY6 | protein_coding | deleterious(0) | possibly_damaging(0.828) | TCGA-B5-A1MX-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Hormone Therapy | megace | SD |
| Page: 1 2 3 4 |
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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 |
| 65992 | DDRGK1 | NUCLEAR HORMONE RECEPTOR | azathioprine | AZATHIOPRINE | 21961091 |
| Page: 1 |
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