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Gene: MYL12A |
Gene summary for MYL12A |
 Gene summary. |
| Gene information | Species | Human | Gene symbol | MYL12A | Gene ID | 10627 |
| Gene name | myosin light chain 12A | |
| Gene Alias | HEL-S-24 | |
| Cytomap | 18p11.31 | |
| Gene Type | protein-coding | GO ID | GO:0000902 | UniProtAcc | P19105 |
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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 |
| 10627 | MYL12A | GSM4909282 | Human | Breast | IDC | 3.27e-36 | 5.09e-01 | -0.0288 |
| 10627 | MYL12A | GSM4909286 | Human | Breast | IDC | 4.21e-23 | -4.18e-01 | 0.1081 |
| 10627 | MYL12A | GSM4909288 | Human | Breast | IDC | 2.06e-03 | -3.66e-01 | 0.0988 |
| 10627 | MYL12A | GSM4909293 | Human | Breast | IDC | 1.23e-14 | -3.24e-01 | 0.1581 |
| 10627 | MYL12A | GSM4909294 | Human | Breast | IDC | 2.32e-10 | -4.53e-01 | 0.2022 |
| 10627 | MYL12A | GSM4909296 | Human | Breast | IDC | 1.85e-06 | -3.03e-01 | 0.1524 |
| 10627 | MYL12A | GSM4909297 | Human | Breast | IDC | 3.12e-14 | -3.59e-01 | 0.1517 |
| 10627 | MYL12A | GSM4909298 | Human | Breast | IDC | 9.83e-16 | -4.00e-01 | 0.1551 |
| 10627 | MYL12A | GSM4909304 | Human | Breast | IDC | 5.13e-15 | -4.56e-01 | 0.1636 |
| 10627 | MYL12A | GSM4909306 | Human | Breast | IDC | 3.92e-08 | -3.88e-01 | 0.1564 |
| 10627 | MYL12A | GSM4909307 | Human | Breast | IDC | 2.97e-16 | -5.60e-01 | 0.1569 |
| 10627 | MYL12A | GSM4909308 | Human | Breast | IDC | 1.17e-18 | -5.35e-01 | 0.158 |
| 10627 | MYL12A | GSM4909311 | Human | Breast | IDC | 8.25e-53 | -9.15e-01 | 0.1534 |
| 10627 | MYL12A | GSM4909312 | Human | Breast | IDC | 2.88e-31 | -7.43e-01 | 0.1552 |
| 10627 | MYL12A | GSM4909313 | Human | Breast | IDC | 2.69e-05 | -3.60e-01 | 0.0391 |
| 10627 | MYL12A | GSM4909317 | Human | Breast | IDC | 5.84e-03 | -1.27e-01 | 0.1355 |
| 10627 | MYL12A | GSM4909319 | Human | Breast | IDC | 2.74e-52 | -8.02e-01 | 0.1563 |
| 10627 | MYL12A | GSM4909320 | Human | Breast | IDC | 1.13e-12 | -6.28e-01 | 0.1575 |
| 10627 | MYL12A | GSM4909321 | Human | Breast | IDC | 1.19e-15 | -4.58e-01 | 0.1559 |
| 10627 | MYL12A | ctrl6 | Human | Breast | Precancer | 5.64e-08 | 4.19e-01 | -0.0061 |
| Page: 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 |
| Transcriptomic changes along malignancy continuum. |
| Tissue | Expression Dynamics | Abbreviation |
| Breast |  | IDC: Invasive ductal carcinoma |
| DCIS: Ductal carcinoma in situ | ||
| Precancer(BRCA1-mut): Precancerous lesion from BRCA1 mutation carriers | ||
| Cervix |  | CC: Cervix cancer |
| HSIL_HPV: HPV-infected high-grade squamous intraepithelial lesions | ||
| N_HPV: HPV-infected normal cervix | ||
| 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 | ||
| Endometrium |  | AEH: Atypical endometrial hyperplasia |
| EEC: Endometrioid Cancer | ||
| Esophagus |  | ESCC: Esophageal squamous cell carcinoma |
| HGIN: High-grade intraepithelial neoplasias | ||
| LGIN: Low-grade intraepithelial neoplasias | ||
| GC |  | CAG: Chronic atrophic gastritis |
| CAG with IM: Chronic atrophic gastritis with intestinal metaplasia | ||
| CSG: Chronic superficial gastritis | ||
| GC: Gastric cancer | ||
| SIM: Severe intestinal metaplasia | ||
| WIM: Wild intestinal metaplasia | ||
| 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:00341099 | Breast | Precancer | homotypic cell-cell adhesion | 18/1080 | 90/18723 | 3.15e-06 | 1.03e-04 | 18 |
| GO:00420609 | Breast | Precancer | wound healing | 48/1080 | 422/18723 | 5.48e-06 | 1.63e-04 | 48 |
| GO:00508789 | Breast | Precancer | regulation of body fluid levels | 40/1080 | 379/18723 | 1.68e-04 | 2.77e-03 | 40 |
| GO:00705278 | Breast | Precancer | platelet aggregation | 12/1080 | 67/18723 | 4.02e-04 | 5.43e-03 | 12 |
| GO:00075995 | Breast | Precancer | hemostasis | 24/1080 | 222/18723 | 2.31e-03 | 2.15e-02 | 24 |
| GO:00075965 | Breast | Precancer | blood coagulation | 23/1080 | 217/18723 | 3.61e-03 | 2.98e-02 | 23 |
| GO:00508175 | Breast | Precancer | coagulation | 23/1080 | 222/18723 | 4.78e-03 | 3.64e-02 | 23 |
| GO:0030168 | Breast | Precancer | platelet activation | 15/1080 | 123/18723 | 4.80e-03 | 3.64e-02 | 15 |
| GO:00226049 | Breast | Precancer | regulation of cell morphogenesis | 29/1080 | 309/18723 | 6.88e-03 | 4.67e-02 | 29 |
| GO:003410913 | Breast | IDC | homotypic cell-cell adhesion | 20/1434 | 90/18723 | 1.20e-05 | 3.17e-04 | 20 |
| GO:004206014 | Breast | IDC | wound healing | 55/1434 | 422/18723 | 7.27e-05 | 1.45e-03 | 55 |
| GO:005087813 | Breast | IDC | regulation of body fluid levels | 50/1434 | 379/18723 | 1.12e-04 | 2.10e-03 | 50 |
| GO:007052713 | Breast | IDC | platelet aggregation | 12/1434 | 67/18723 | 4.53e-03 | 3.49e-02 | 12 |
| GO:00726599 | Breast | IDC | protein localization to plasma membrane | 34/1434 | 284/18723 | 6.33e-03 | 4.47e-02 | 34 |
| GO:005087823 | Breast | DCIS | regulation of body fluid levels | 50/1390 | 379/18723 | 5.17e-05 | 1.06e-03 | 50 |
| GO:004206024 | Breast | DCIS | wound healing | 54/1390 | 422/18723 | 6.09e-05 | 1.22e-03 | 54 |
| GO:003410923 | Breast | DCIS | homotypic cell-cell adhesion | 18/1390 | 90/18723 | 9.33e-05 | 1.71e-03 | 18 |
| GO:004206010 | Cervix | CC | wound healing | 109/2311 | 422/18723 | 1.84e-14 | 1.57e-11 | 109 |
| GO:002260410 | Cervix | CC | regulation of cell morphogenesis | 84/2311 | 309/18723 | 1.00e-12 | 4.29e-10 | 84 |
| GO:007265910 | Cervix | CC | protein localization to plasma membrane | 73/2311 | 284/18723 | 4.95e-10 | 6.73e-08 | 73 |
| Page: 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 |
| Enriched KEGG pathways. |
| Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
| hsa0513218 | Breast | Precancer | Salmonella infection | 49/684 | 249/8465 | 2.92e-09 | 6.15e-08 | 4.71e-08 | 49 |
| hsa0513118 | Breast | Precancer | Shigellosis | 44/684 | 247/8465 | 3.91e-07 | 6.86e-06 | 5.26e-06 | 44 |
| hsa0453018 | Breast | Precancer | Tight junction | 31/684 | 169/8465 | 1.13e-05 | 1.26e-04 | 9.64e-05 | 31 |
| hsa0467018 | Breast | Precancer | Leukocyte transendothelial migration | 20/684 | 114/8465 | 7.26e-04 | 5.33e-03 | 4.09e-03 | 20 |
| hsa0452018 | Breast | Precancer | Adherens junction | 17/684 | 93/8465 | 1.11e-03 | 7.57e-03 | 5.80e-03 | 17 |
| hsa0513219 | Breast | Precancer | Salmonella infection | 49/684 | 249/8465 | 2.92e-09 | 6.15e-08 | 4.71e-08 | 49 |
| hsa0513119 | Breast | Precancer | Shigellosis | 44/684 | 247/8465 | 3.91e-07 | 6.86e-06 | 5.26e-06 | 44 |
| hsa0453019 | Breast | Precancer | Tight junction | 31/684 | 169/8465 | 1.13e-05 | 1.26e-04 | 9.64e-05 | 31 |
| hsa0467019 | Breast | Precancer | Leukocyte transendothelial migration | 20/684 | 114/8465 | 7.26e-04 | 5.33e-03 | 4.09e-03 | 20 |
| hsa0452019 | Breast | Precancer | Adherens junction | 17/684 | 93/8465 | 1.11e-03 | 7.57e-03 | 5.80e-03 | 17 |
| hsa0513224 | Breast | IDC | Salmonella infection | 55/867 | 249/8465 | 2.07e-08 | 4.49e-07 | 3.36e-07 | 55 |
| hsa0453024 | Breast | IDC | Tight junction | 38/867 | 169/8465 | 2.07e-06 | 3.20e-05 | 2.39e-05 | 38 |
| hsa0513124 | Breast | IDC | Shigellosis | 47/867 | 247/8465 | 1.78e-05 | 2.00e-04 | 1.49e-04 | 47 |
| hsa0467024 | Breast | IDC | Leukocyte transendothelial migration | 21/867 | 114/8465 | 5.41e-03 | 3.13e-02 | 2.34e-02 | 21 |
| hsa0481014 | Breast | IDC | Regulation of actin cytoskeleton | 36/867 | 229/8465 | 5.79e-03 | 3.13e-02 | 2.34e-02 | 36 |
| hsa045109 | Breast | IDC | Focal adhesion | 32/867 | 203/8465 | 8.60e-03 | 4.23e-02 | 3.17e-02 | 32 |
| hsa0513234 | Breast | IDC | Salmonella infection | 55/867 | 249/8465 | 2.07e-08 | 4.49e-07 | 3.36e-07 | 55 |
| hsa0453034 | Breast | IDC | Tight junction | 38/867 | 169/8465 | 2.07e-06 | 3.20e-05 | 2.39e-05 | 38 |
| hsa0513134 | Breast | IDC | Shigellosis | 47/867 | 247/8465 | 1.78e-05 | 2.00e-04 | 1.49e-04 | 47 |
| hsa0467034 | Breast | IDC | Leukocyte transendothelial migration | 21/867 | 114/8465 | 5.41e-03 | 3.13e-02 | 2.34e-02 | 21 |
| Page: 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 |
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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 |
| MYL12A | SNV | Missense_Mutation | c.529N>A | p.Asp177Asn | p.D177N | protein_coding | tolerated(0.06) | benign(0.058) | TCGA-BH-A0DL-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cytoxan | CR | ||
| MYL12A | SNV | Missense_Mutation | c.101C>T | p.Ser34Leu | p.S34L | protein_coding | deleterious(0) | possibly_damaging(0.868) | TCGA-E2-A10C-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cytoxan | SD | ||
| MYL12A | SNV | Missense_Mutation | c.362N>A | p.Gly121Asp | p.G121D | protein_coding | deleterious(0.01) | possibly_damaging(0.478) | TCGA-IR-A3LA-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR | ||
| MYL12A | SNV | Missense_Mutation | c.214N>A | p.Asp72Asn | p.D72N | protein_coding | tolerated(0.49) | benign(0.009) | TCGA-IR-A3LK-01 | Cervix | cervical & endocervical cancer | Female | >=65 | I/II | Chemotherapy | cisplatin | PD | ||
| MYL12A | insertion | Frame_Shift_Ins | novel | c.77_78insGATTACT | p.Asn26LysfsTer9 | p.N26Kfs*9 | protein_coding | TCGA-AM-5820-01 | Colorectum | colon adenocarcinoma | Female | <65 | I/II | Unknown | Unknown | SD | |||
| MYL12A | SNV | Missense_Mutation | novel | c.171A>C | p.Glu57Asp | p.E57D | protein_coding | tolerated(0.16) | benign(0.003) | TCGA-A5-A0G2-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD | |
| MYL12A | SNV | Missense_Mutation | rs764366847 | c.55C>T | p.Arg19Cys | p.R19C | protein_coding | deleterious(0.05) | probably_damaging(0.993) | TCGA-AP-A0LM-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | cisplatin | SD | |
| MYL12A | SNV | Missense_Mutation | rs199590891 | c.64C>T | p.Arg22Cys | p.R22C | protein_coding | tolerated(0.15) | benign(0) | TCGA-AX-A0J1-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
| MYL12A | SNV | Missense_Mutation | novel | c.270G>A | p.Met90Ile | p.M90I | protein_coding | tolerated(0.09) | benign(0.001) | TCGA-AX-A0J1-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
| MYL12A | SNV | Missense_Mutation | rs11539726 | c.133A>G | p.Met45Val | p.M45V | protein_coding | tolerated(0.29) | benign(0.003) | TCGA-AX-A1C4-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
| Page: 1 2 |
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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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