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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:0022411112 | Skin | cSCC | cellular component disassembly | 201/4864 | 443/18723 | 4.09e-19 | 5.69e-17 | 201 |
| GO:006113629 | Skin | cSCC | regulation of proteasomal protein catabolic process | 106/4864 | 187/18723 | 4.31e-19 | 5.87e-17 | 106 |
| GO:003164729 | Skin | cSCC | regulation of protein stability | 144/4864 | 298/18723 | 6.51e-17 | 6.80e-15 | 144 |
| GO:0034976112 | Skin | cSCC | response to endoplasmic reticulum stress | 128/4864 | 256/18723 | 1.16e-16 | 1.17e-14 | 128 |
| GO:003243429 | Skin | cSCC | regulation of proteasomal ubiquitin-dependent protein catabolic process | 80/4864 | 134/18723 | 1.54e-16 | 1.49e-14 | 80 |
| GO:0035966112 | Skin | cSCC | response to topologically incorrect protein | 90/4864 | 159/18723 | 2.26e-16 | 2.12e-14 | 90 |
| GO:200005829 | Skin | cSCC | regulation of ubiquitin-dependent protein catabolic process | 92/4864 | 164/18723 | 2.30e-16 | 2.12e-14 | 92 |
| GO:004586229 | Skin | cSCC | positive regulation of proteolysis | 169/4864 | 372/18723 | 2.43e-16 | 2.21e-14 | 169 |
| GO:000989628 | Skin | cSCC | positive regulation of catabolic process | 206/4864 | 492/18723 | 6.06e-15 | 4.64e-13 | 206 |
| GO:001623619 | Skin | cSCC | macroautophagy | 136/4864 | 291/18723 | 1.36e-14 | 9.78e-13 | 136 |
| GO:0006986112 | Skin | cSCC | response to unfolded protein | 78/4864 | 137/18723 | 1.44e-14 | 1.03e-12 | 78 |
| GO:190336429 | Skin | cSCC | positive regulation of cellular protein catabolic process | 85/4864 | 155/18723 | 1.87e-14 | 1.31e-12 | 85 |
| GO:003133128 | Skin | cSCC | positive regulation of cellular catabolic process | 182/4864 | 427/18723 | 3.29e-14 | 2.22e-12 | 182 |
| GO:190382928 | Skin | cSCC | positive regulation of cellular protein localization | 129/4864 | 276/18723 | 6.43e-14 | 4.09e-12 | 129 |
| GO:004573229 | Skin | cSCC | positive regulation of protein catabolic process | 112/4864 | 231/18723 | 1.37e-13 | 8.40e-12 | 112 |
| GO:190180025 | Skin | cSCC | positive regulation of proteasomal protein catabolic process | 66/4864 | 114/18723 | 5.18e-13 | 3.01e-11 | 66 |
| GO:190300817 | Skin | cSCC | organelle disassembly | 65/4864 | 114/18723 | 2.03e-12 | 1.12e-10 | 65 |
| GO:190305225 | Skin | cSCC | positive regulation of proteolysis involved in cellular protein catabolic process | 72/4864 | 133/18723 | 4.24e-12 | 2.27e-10 | 72 |
| GO:0035967112 | Skin | cSCC | cellular response to topologically incorrect protein | 65/4864 | 116/18723 | 5.93e-12 | 3.10e-10 | 65 |
| GO:005109827 | Skin | cSCC | regulation of binding | 152/4864 | 363/18723 | 2.21e-11 | 1.10e-09 | 152 |
| 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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