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Gene: DYNC1H1 |
Gene summary for DYNC1H1 |
 Gene summary. |
| Gene information | Species | Human | Gene symbol | DYNC1H1 | Gene ID | 1778 |
| Gene name | dynein cytoplasmic 1 heavy chain 1 | |
| Gene Alias | CMT2O | |
| Cytomap | 14q32.31 | |
| Gene Type | protein-coding | GO ID | GO:0000226 | UniProtAcc | Q14204 |
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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 |
| 1778 | DYNC1H1 | HTA11_347_2000001011 | Human | Colorectum | AD | 5.57e-17 | 6.56e-01 | -0.1954 |
| 1778 | DYNC1H1 | HTA11_696_2000001011 | Human | Colorectum | AD | 1.42e-03 | 4.49e-01 | -0.1464 |
| 1778 | DYNC1H1 | HTA11_1391_2000001011 | Human | Colorectum | AD | 1.84e-07 | 5.50e-01 | -0.059 |
| 1778 | DYNC1H1 | HTA11_866_3004761011 | Human | Colorectum | AD | 1.71e-08 | 5.65e-01 | 0.096 |
| 1778 | DYNC1H1 | HTA11_10711_2000001011 | Human | Colorectum | AD | 4.71e-04 | 4.87e-01 | 0.0338 |
| 1778 | DYNC1H1 | HTA11_7696_3000711011 | Human | Colorectum | AD | 9.76e-11 | 6.19e-01 | 0.0674 |
| 1778 | DYNC1H1 | HTA11_6818_2000001021 | Human | Colorectum | AD | 4.76e-05 | 4.70e-01 | 0.0588 |
| 1778 | DYNC1H1 | HTA11_99999965062_69753 | Human | Colorectum | MSI-H | 7.69e-03 | 9.09e-01 | 0.3487 |
| 1778 | DYNC1H1 | A015-C-203 | Human | Colorectum | FAP | 7.13e-22 | 8.29e-02 | -0.1294 |
| 1778 | DYNC1H1 | A002-C-201 | Human | Colorectum | FAP | 2.17e-04 | 6.32e-02 | 0.0324 |
| 1778 | DYNC1H1 | A001-C-119 | Human | Colorectum | FAP | 2.83e-10 | 4.81e-01 | -0.1557 |
| 1778 | DYNC1H1 | A001-C-108 | Human | Colorectum | FAP | 8.07e-09 | 1.94e-01 | -0.0272 |
| 1778 | DYNC1H1 | A002-C-205 | Human | Colorectum | FAP | 1.91e-16 | 3.20e-01 | -0.1236 |
| 1778 | DYNC1H1 | A001-C-104 | Human | Colorectum | FAP | 3.61e-05 | 2.98e-01 | 0.0184 |
| 1778 | DYNC1H1 | A015-C-006 | Human | Colorectum | FAP | 6.99e-12 | 2.80e-01 | -0.0994 |
| 1778 | DYNC1H1 | A015-C-106 | Human | Colorectum | FAP | 1.35e-08 | 1.08e-01 | -0.0511 |
| 1778 | DYNC1H1 | A002-C-114 | Human | Colorectum | FAP | 6.57e-11 | 1.83e-01 | -0.1561 |
| 1778 | DYNC1H1 | A015-C-104 | Human | Colorectum | FAP | 7.60e-24 | 2.72e-01 | -0.1899 |
| 1778 | DYNC1H1 | A001-C-014 | Human | Colorectum | FAP | 5.51e-08 | 1.76e-01 | 0.0135 |
| 1778 | DYNC1H1 | A002-C-016 | Human | Colorectum | FAP | 1.83e-15 | 5.45e-02 | 0.0521 |
| Page: 1 2 3 4 5 6 7 8 9 10 11 |
| 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 | ||
| Lung |  | AAH: Atypical adenomatous hyperplasia |
| AIS: Adenocarcinoma in situ | ||
| IAC: Invasive lung adenocarcinoma | ||
| MIA: Minimally invasive adenocarcinoma | ||
| 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:00902244 | Oral cavity | OSCC | regulation of spindle organization | 29/7305 | 39/18723 | 7.81e-06 | 8.43e-05 | 29 |
| GO:00705077 | Oral cavity | OSCC | regulation of microtubule cytoskeleton organization | 84/7305 | 148/18723 | 8.80e-06 | 9.33e-05 | 84 |
| GO:00723845 | Oral cavity | OSCC | organelle transport along microtubule | 53/7305 | 85/18723 | 1.10e-05 | 1.14e-04 | 53 |
| GO:00340637 | Oral cavity | OSCC | stress granule assembly | 21/7305 | 26/18723 | 1.66e-05 | 1.64e-04 | 21 |
| GO:00901695 | Oral cavity | OSCC | regulation of spindle assembly | 20/7305 | 25/18723 | 3.47e-05 | 3.11e-04 | 20 |
| GO:00080889 | Oral cavity | OSCC | axo-dendritic transport | 46/7305 | 75/18723 | 7.44e-05 | 5.81e-04 | 46 |
| GO:19021173 | Oral cavity | OSCC | positive regulation of organelle assembly | 41/7305 | 67/18723 | 1.94e-04 | 1.30e-03 | 41 |
| GO:00989303 | Oral cavity | OSCC | axonal transport | 39/7305 | 64/18723 | 3.12e-04 | 1.94e-03 | 39 |
| GO:00991113 | Oral cavity | OSCC | microtubule-based transport | 96/7305 | 190/18723 | 7.92e-04 | 4.27e-03 | 96 |
| GO:00995184 | Oral cavity | OSCC | vesicle cytoskeletal trafficking | 41/7305 | 73/18723 | 2.18e-03 | 9.95e-03 | 41 |
| GO:00328863 | Oral cavity | OSCC | regulation of microtubule-based process | 115/7305 | 240/18723 | 2.95e-03 | 1.28e-02 | 115 |
| GO:01061065 | Oral cavity | OSCC | cold-induced thermogenesis | 71/7305 | 144/18723 | 7.51e-03 | 2.75e-02 | 71 |
| GO:01201615 | Oral cavity | OSCC | regulation of cold-induced thermogenesis | 71/7305 | 144/18723 | 7.51e-03 | 2.75e-02 | 71 |
| GO:00016594 | Oral cavity | OSCC | temperature homeostasis | 84/7305 | 174/18723 | 7.84e-03 | 2.87e-02 | 84 |
| GO:00474961 | Oral cavity | OSCC | vesicle transport along microtubule | 27/7305 | 47/18723 | 7.93e-03 | 2.90e-02 | 27 |
| GO:00516532 | Oral cavity | OSCC | spindle localization | 31/7305 | 56/18723 | 9.53e-03 | 3.39e-02 | 31 |
| GO:19908454 | Oral cavity | OSCC | adaptive thermogenesis | 76/7305 | 157/18723 | 1.02e-02 | 3.52e-02 | 76 |
| GO:003238616 | Oral cavity | LP | regulation of intracellular transport | 145/4623 | 337/18723 | 8.58e-14 | 8.27e-12 | 145 |
| GO:003238819 | Oral cavity | LP | positive regulation of intracellular transport | 97/4623 | 202/18723 | 4.79e-13 | 4.30e-11 | 97 |
| GO:005165615 | Oral cavity | LP | establishment of organelle localization | 147/4623 | 390/18723 | 6.01e-09 | 2.46e-07 | 147 |
| 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 |
| Enriched KEGG pathways. |
| Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
| hsa05132 | Colorectum | AD | Salmonella infection | 102/2092 | 249/8465 | 7.65e-09 | 1.28e-07 | 8.17e-08 | 102 |
| hsa04962 | Colorectum | AD | Vasopressin-regulated water reabsorption | 19/2092 | 44/8465 | 5.48e-03 | 2.48e-02 | 1.58e-02 | 19 |
| hsa051321 | Colorectum | AD | Salmonella infection | 102/2092 | 249/8465 | 7.65e-09 | 1.28e-07 | 8.17e-08 | 102 |
| hsa049621 | Colorectum | AD | Vasopressin-regulated water reabsorption | 19/2092 | 44/8465 | 5.48e-03 | 2.48e-02 | 1.58e-02 | 19 |
| hsa051326 | Colorectum | MSI-H | Salmonella infection | 43/797 | 249/8465 | 5.91e-05 | 8.33e-04 | 6.98e-04 | 43 |
| hsa04145 | Colorectum | MSI-H | Phagosome | 27/797 | 152/8465 | 8.74e-04 | 1.01e-02 | 8.48e-03 | 27 |
| hsa051327 | Colorectum | MSI-H | Salmonella infection | 43/797 | 249/8465 | 5.91e-05 | 8.33e-04 | 6.98e-04 | 43 |
| hsa041451 | Colorectum | MSI-H | Phagosome | 27/797 | 152/8465 | 8.74e-04 | 1.01e-02 | 8.48e-03 | 27 |
| hsa051328 | Colorectum | FAP | Salmonella infection | 67/1404 | 249/8465 | 2.04e-05 | 2.52e-04 | 1.53e-04 | 67 |
| hsa051329 | Colorectum | FAP | Salmonella infection | 67/1404 | 249/8465 | 2.04e-05 | 2.52e-04 | 1.53e-04 | 67 |
| hsa0513210 | Colorectum | CRC | Salmonella infection | 48/1091 | 249/8465 | 2.43e-03 | 1.69e-02 | 1.15e-02 | 48 |
| hsa0513211 | Colorectum | CRC | Salmonella infection | 48/1091 | 249/8465 | 2.43e-03 | 1.69e-02 | 1.15e-02 | 48 |
| hsa05132211 | Esophagus | ESCC | Salmonella infection | 191/4205 | 249/8465 | 6.51e-19 | 5.45e-17 | 2.79e-17 | 191 |
| hsa0414530 | Esophagus | ESCC | Phagosome | 100/4205 | 152/8465 | 3.81e-05 | 1.72e-04 | 8.82e-05 | 100 |
| hsa0496223 | Esophagus | ESCC | Vasopressin-regulated water reabsorption | 33/4205 | 44/8465 | 5.27e-04 | 1.78e-03 | 9.13e-04 | 33 |
| hsa05132310 | Esophagus | ESCC | Salmonella infection | 191/4205 | 249/8465 | 6.51e-19 | 5.45e-17 | 2.79e-17 | 191 |
| hsa04145114 | Esophagus | ESCC | Phagosome | 100/4205 | 152/8465 | 3.81e-05 | 1.72e-04 | 8.82e-05 | 100 |
| hsa0496233 | Esophagus | ESCC | Vasopressin-regulated water reabsorption | 33/4205 | 44/8465 | 5.27e-04 | 1.78e-03 | 9.13e-04 | 33 |
| hsa0513222 | Liver | Cirrhotic | Salmonella infection | 121/2530 | 249/8465 | 2.47e-10 | 5.13e-09 | 3.16e-09 | 121 |
| hsa0414514 | Liver | Cirrhotic | Phagosome | 73/2530 | 152/8465 | 1.61e-06 | 1.78e-05 | 1.10e-05 | 73 |
| Page: 1 2 3 4 |
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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 |
| Page: 1 |
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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 |
| DYNC1H1 | SNV | Missense_Mutation | novel | c.5356N>A | p.Glu1786Lys | p.E1786K | Q14204 | protein_coding | tolerated(0.32) | benign(0.007) | TCGA-3C-AALI-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unspecific | Poly E | Complete Response |
| DYNC1H1 | SNV | Missense_Mutation | novel | c.13254N>C | p.Lys4418Asn | p.K4418N | Q14204 | protein_coding | tolerated(1) | benign(0.001) | TCGA-3C-AALI-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unspecific | Poly E | Complete Response |
| DYNC1H1 | SNV | Missense_Mutation | novel | c.11389N>T | p.Val3797Leu | p.V3797L | Q14204 | protein_coding | deleterious(0.01) | probably_damaging(0.962) | TCGA-A2-A0T2-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Chemotherapy | xeloda | PD |
| DYNC1H1 | SNV | Missense_Mutation | c.13316N>G | p.Glu4439Gly | p.E4439G | Q14204 | protein_coding | tolerated(0.14) | benign(0.243) | TCGA-A2-A0YJ-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | cytoxan | PD | |
| DYNC1H1 | SNV | Missense_Mutation | c.262G>A | p.Val88Ile | p.V88I | Q14204 | protein_coding | tolerated(0.2) | benign(0.035) | TCGA-A7-A26H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | anastrozole | PD | |
| DYNC1H1 | SNV | Missense_Mutation | c.1585N>G | p.Asn529Asp | p.N529D | Q14204 | protein_coding | tolerated(0.61) | benign(0.025) | TCGA-A8-A06R-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | 5-fluorouracil | CR | |
| DYNC1H1 | SNV | Missense_Mutation | c.7222N>A | p.Ala2408Thr | p.A2408T | Q14204 | protein_coding | tolerated(0.53) | benign(0) | TCGA-A8-A07B-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
| DYNC1H1 | SNV | Missense_Mutation | c.4451N>C | p.Cys1484Ser | p.C1484S | Q14204 | protein_coding | deleterious(0) | possibly_damaging(0.783) | TCGA-A8-A09K-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
| DYNC1H1 | SNV | Missense_Mutation | novel | c.1284N>C | p.Glu428Asp | p.E428D | Q14204 | protein_coding | tolerated(0.48) | benign(0.007) | TCGA-AC-A3W6-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Unknown | Unknown | SD |
| DYNC1H1 | SNV | Missense_Mutation | novel | c.4915N>C | p.Glu1639Gln | p.E1639Q | Q14204 | protein_coding | deleterious(0) | probably_damaging(0.977) | TCGA-AC-A5XS-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | femara | SD |
| 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 |
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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 |
| Page: 1 |
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