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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:005122512 | Oral cavity | LP | spindle assembly | 42/4623 | 117/18723 | 4.39e-03 | 2.80e-02 | 42 |
| GO:00080902 | Oral cavity | LP | retrograde axonal transport | 11/4623 | 21/18723 | 5.78e-03 | 3.44e-02 | 11 |
| GO:00988131 | Oral cavity | LP | nuclear chromosome segregation | 88/4623 | 281/18723 | 6.72e-03 | 3.91e-02 | 88 |
| GO:004578715 | Oral cavity | LP | positive regulation of cell cycle | 96/4623 | 313/18723 | 9.08e-03 | 4.85e-02 | 96 |
| GO:003238622 | Oral cavity | EOLP | regulation of intracellular transport | 91/2218 | 337/18723 | 1.51e-14 | 6.47e-12 | 91 |
| GO:003238822 | Oral cavity | EOLP | positive regulation of intracellular transport | 54/2218 | 202/18723 | 4.95e-09 | 2.74e-07 | 54 |
| GO:005149524 | Oral cavity | EOLP | positive regulation of cytoskeleton organization | 55/2218 | 226/18723 | 1.19e-07 | 3.99e-06 | 55 |
| GO:190211712 | Oral cavity | EOLP | positive regulation of organelle assembly | 22/2218 | 67/18723 | 4.97e-06 | 1.02e-04 | 22 |
| GO:190211521 | Oral cavity | EOLP | regulation of organelle assembly | 43/2218 | 186/18723 | 1.11e-05 | 1.94e-04 | 43 |
| GO:005165623 | Oral cavity | EOLP | establishment of organelle localization | 73/2218 | 390/18723 | 4.59e-05 | 6.11e-04 | 73 |
| GO:003070523 | Oral cavity | EOLP | cytoskeleton-dependent intracellular transport | 42/2218 | 195/18723 | 8.11e-05 | 9.69e-04 | 42 |
| GO:003406322 | Oral cavity | EOLP | stress granule assembly | 11/2218 | 26/18723 | 8.86e-05 | 1.04e-03 | 11 |
| GO:007050722 | Oral cavity | EOLP | regulation of microtubule cytoskeleton organization | 33/2218 | 148/18723 | 2.29e-04 | 2.25e-03 | 33 |
| GO:005165022 | Oral cavity | EOLP | establishment of vesicle localization | 35/2218 | 161/18723 | 2.54e-04 | 2.47e-03 | 35 |
| GO:000808821 | Oral cavity | EOLP | axo-dendritic transport | 20/2218 | 75/18723 | 3.41e-04 | 3.15e-03 | 20 |
| GO:005164822 | Oral cavity | EOLP | vesicle localization | 37/2218 | 177/18723 | 3.88e-04 | 3.48e-03 | 37 |
| GO:003112213 | Oral cavity | EOLP | cytoplasmic microtubule organization | 16/2218 | 56/18723 | 5.70e-04 | 4.82e-03 | 16 |
| GO:009893011 | Oral cavity | EOLP | axonal transport | 17/2218 | 64/18723 | 9.71e-04 | 7.35e-03 | 17 |
| GO:004578721 | Oral cavity | EOLP | positive regulation of cell cycle | 56/2218 | 313/18723 | 1.04e-03 | 7.66e-03 | 56 |
| GO:001097021 | Oral cavity | EOLP | transport along microtubule | 32/2218 | 155/18723 | 1.15e-03 | 8.37e-03 | 32 |
| 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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