|
|||||
|
 | |
| |
| |
| |
| |
| |
|
Gene: ESYT1 |
Gene summary for ESYT1 |
 Gene summary. |
| Gene information | Species | Human | Gene symbol | ESYT1 | Gene ID | 23344 |
| Gene name | extended synaptotagmin 1 | |
| Gene Alias | FAM62A | |
| Cytomap | 12q13.2 | |
| Gene Type | protein-coding | GO ID | GO:0006810 | UniProtAcc | A0A024RB16 |
Top |
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 |
| 23344 | ESYT1 | LZE4T | Human | Esophagus | ESCC | 5.02e-06 | 1.52e-01 | 0.0811 |
| 23344 | ESYT1 | LZE7T | Human | Esophagus | ESCC | 1.10e-06 | 3.12e-01 | 0.0667 |
| 23344 | ESYT1 | LZE24T | Human | Esophagus | ESCC | 7.53e-03 | 1.34e-01 | 0.0596 |
| 23344 | ESYT1 | LZE6T | Human | Esophagus | ESCC | 5.10e-08 | 2.92e-01 | 0.0845 |
| 23344 | ESYT1 | P1T-E | Human | Esophagus | ESCC | 1.20e-06 | 3.13e-01 | 0.0875 |
| 23344 | ESYT1 | P2T-E | Human | Esophagus | ESCC | 4.44e-25 | 4.09e-01 | 0.1177 |
| 23344 | ESYT1 | P4T-E | Human | Esophagus | ESCC | 3.41e-07 | 2.56e-01 | 0.1323 |
| 23344 | ESYT1 | P5T-E | Human | Esophagus | ESCC | 1.86e-15 | 1.21e-01 | 0.1327 |
| 23344 | ESYT1 | P8T-E | Human | Esophagus | ESCC | 5.10e-13 | 1.85e-01 | 0.0889 |
| 23344 | ESYT1 | P9T-E | Human | Esophagus | ESCC | 1.34e-09 | 5.70e-02 | 0.1131 |
| 23344 | ESYT1 | P10T-E | Human | Esophagus | ESCC | 1.82e-13 | 2.11e-01 | 0.116 |
| 23344 | ESYT1 | P11T-E | Human | Esophagus | ESCC | 1.19e-06 | 3.84e-01 | 0.1426 |
| 23344 | ESYT1 | P12T-E | Human | Esophagus | ESCC | 7.07e-28 | 3.22e-01 | 0.1122 |
| 23344 | ESYT1 | P15T-E | Human | Esophagus | ESCC | 4.48e-11 | 1.71e-01 | 0.1149 |
| 23344 | ESYT1 | P16T-E | Human | Esophagus | ESCC | 3.64e-23 | 3.14e-01 | 0.1153 |
| 23344 | ESYT1 | P17T-E | Human | Esophagus | ESCC | 2.46e-06 | 2.96e-01 | 0.1278 |
| 23344 | ESYT1 | P19T-E | Human | Esophagus | ESCC | 4.79e-06 | 5.79e-01 | 0.1662 |
| 23344 | ESYT1 | P20T-E | Human | Esophagus | ESCC | 7.06e-12 | 3.09e-01 | 0.1124 |
| 23344 | ESYT1 | P21T-E | Human | Esophagus | ESCC | 3.18e-30 | 5.23e-01 | 0.1617 |
| 23344 | ESYT1 | P22T-E | Human | Esophagus | ESCC | 5.08e-17 | 1.46e-01 | 0.1236 |
| Page: 1 2 3 4 5 6 |
| Transcriptomic changes along malignancy continuum. |
| Tissue | Expression Dynamics | Abbreviation |
| 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 | ||
| 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. |
Top |
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:000702914 | Esophagus | ESCC | endoplasmic reticulum organization | 65/8552 | 87/18723 | 3.28e-08 | 6.08e-07 | 65 |
| GO:00224069 | Esophagus | ESCC | membrane docking | 62/8552 | 86/18723 | 5.93e-07 | 7.79e-06 | 62 |
| GO:01400567 | Esophagus | ESCC | organelle localization by membrane tethering | 53/8552 | 77/18723 | 3.33e-05 | 2.74e-04 | 53 |
| GO:000702911 | Liver | HCC | endoplasmic reticulum organization | 64/7958 | 87/18723 | 3.92e-09 | 1.04e-07 | 64 |
| GO:002240611 | Liver | HCC | membrane docking | 57/7958 | 86/18723 | 7.14e-06 | 8.47e-05 | 57 |
| GO:014005611 | Liver | HCC | organelle localization by membrane tethering | 49/7958 | 77/18723 | 1.46e-04 | 1.18e-03 | 49 |
| GO:001087621 | Liver | HCC | lipid localization | 228/7958 | 448/18723 | 1.80e-04 | 1.41e-03 | 228 |
| GO:000686921 | Liver | HCC | lipid transport | 198/7958 | 398/18723 | 1.92e-03 | 9.78e-03 | 198 |
| GO:00070294 | Oral cavity | OSCC | endoplasmic reticulum organization | 58/7305 | 87/18723 | 1.59e-07 | 2.61e-06 | 58 |
| GO:00224068 | Oral cavity | OSCC | membrane docking | 52/7305 | 86/18723 | 4.50e-05 | 3.84e-04 | 52 |
| GO:01400566 | Oral cavity | OSCC | organelle localization by membrane tethering | 43/7305 | 77/18723 | 2.00e-03 | 9.28e-03 | 43 |
| GO:00070296 | Skin | cSCC | endoplasmic reticulum organization | 42/4864 | 87/18723 | 6.36e-06 | 8.92e-05 | 42 |
| GO:002240610 | Skin | cSCC | membrane docking | 41/4864 | 86/18723 | 1.20e-05 | 1.53e-04 | 41 |
| GO:01400568 | Skin | cSCC | organelle localization by membrane tethering | 34/4864 | 77/18723 | 4.10e-04 | 3.18e-03 | 34 |
| GO:000702915 | Thyroid | PTC | endoplasmic reticulum organization | 51/5968 | 87/18723 | 2.37e-07 | 4.15e-06 | 51 |
| GO:002240615 | Thyroid | PTC | membrane docking | 48/5968 | 86/18723 | 3.72e-06 | 4.73e-05 | 48 |
| GO:01400569 | Thyroid | PTC | organelle localization by membrane tethering | 40/5968 | 77/18723 | 1.98e-04 | 1.49e-03 | 40 |
| GO:000702921 | Thyroid | ATC | endoplasmic reticulum organization | 51/6293 | 87/18723 | 1.47e-06 | 1.81e-05 | 51 |
| GO:002240622 | Thyroid | ATC | membrane docking | 49/6293 | 86/18723 | 7.13e-06 | 7.34e-05 | 49 |
| GO:014005613 | Thyroid | ATC | organelle localization by membrane tethering | 41/6293 | 77/18723 | 2.97e-04 | 1.88e-03 | 41 |
| Page: 1 |
| Enriched KEGG pathways. |
| Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
| Page: 1 |
Top |
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 |
Top |
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 |
Top |
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 |
| ESYT1 | SNV | Missense_Mutation | rs762719993 | c.2446N>T | p.Arg816Trp | p.R816W | Q9BSJ8 | protein_coding | deleterious(0.01) | possibly_damaging(0.702) | TCGA-A1-A0SM-01 | Breast | breast invasive carcinoma | Male | >=65 | I/II | Unknown | Unknown | SD |
| ESYT1 | SNV | Missense_Mutation | novel | c.1551N>G | p.Ile517Met | p.I517M | Q9BSJ8 | protein_coding | deleterious(0.01) | possibly_damaging(0.576) | TCGA-A7-A6VY-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cyclophosphamide | CR |
| ESYT1 | SNV | Missense_Mutation | c.1456C>T | p.Arg486Trp | p.R486W | Q9BSJ8 | protein_coding | deleterious(0.01) | probably_damaging(0.99) | TCGA-A8-A08P-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Chemotherapy | 5-fluorouracil | CR | |
| ESYT1 | SNV | Missense_Mutation | c.850N>A | p.Pro284Thr | p.P284T | Q9BSJ8 | protein_coding | deleterious(0.01) | probably_damaging(1) | TCGA-AN-A049-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD | |
| ESYT1 | SNV | Missense_Mutation | rs373722430 | c.1016N>A | p.Arg339Gln | p.R339Q | Q9BSJ8 | protein_coding | tolerated(1) | benign(0.005) | TCGA-AR-A0TX-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
| ESYT1 | SNV | Missense_Mutation | c.2051N>T | p.Ser684Leu | p.S684L | Q9BSJ8 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-BH-A0W7-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | taxotere | CR | |
| ESYT1 | SNV | Missense_Mutation | novel | c.1059N>T | p.Glu353Asp | p.E353D | Q9BSJ8 | protein_coding | tolerated(0.27) | benign(0.013) | TCGA-C8-A3M7-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Unknown | Unknown | PD |
| ESYT1 | SNV | Missense_Mutation | rs762719993 | c.2446N>T | p.Arg816Trp | p.R816W | Q9BSJ8 | protein_coding | deleterious(0.01) | possibly_damaging(0.702) | TCGA-EW-A1PA-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cyclophosphamide | SD |
| ESYT1 | insertion | Frame_Shift_Ins | novel | c.50_51insTGGCGGTGCTGACTTCATTCGGGAGGCGGTTG | p.Ser18GlyfsTer49 | p.S18Gfs*49 | Q9BSJ8 | protein_coding | TCGA-AO-A12D-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cyclophosphamide | SD | ||
| ESYT1 | deletion | Frame_Shift_Del | c.2022delN | p.Phe675SerfsTer6 | p.F675Sfs*6 | Q9BSJ8 | protein_coding | TCGA-EW-A2FV-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | docetaxel | SD |
| Page: 1 2 3 4 5 6 7 8 9 10 |
Top |
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 |
Copyright 2023-Present -The University of Texas Health Science Center at Houston |