|
|||||
|
 | |
| |
| |
| |
| |
| |
|
Gene: SMU1 |
Gene summary for SMU1 |
 Gene summary. |
| Gene information | Species | Human | Gene symbol | SMU1 | Gene ID | 55234 |
| Gene name | SMU1 DNA replication regulator and spliceosomal factor | |
| Gene Alias | BWD | |
| Cytomap | 9p21.1 | |
| Gene Type | protein-coding | GO ID | GO:0000375 | UniProtAcc | A0MNN4 |
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 |
| 55234 | SMU1 | LZE2T | Human | Esophagus | ESCC | 2.32e-04 | 6.21e-01 | 0.082 |
| 55234 | SMU1 | LZE4T | Human | Esophagus | ESCC | 1.02e-14 | 5.64e-01 | 0.0811 |
| 55234 | SMU1 | LZE5T | Human | Esophagus | ESCC | 7.18e-11 | 6.21e-01 | 0.0514 |
| 55234 | SMU1 | LZE7T | Human | Esophagus | ESCC | 1.72e-11 | 7.60e-01 | 0.0667 |
| 55234 | SMU1 | LZE8T | Human | Esophagus | ESCC | 1.49e-11 | 4.15e-01 | 0.067 |
| 55234 | SMU1 | LZE20T | Human | Esophagus | ESCC | 7.68e-08 | 1.87e-01 | 0.0662 |
| 55234 | SMU1 | LZE22T | Human | Esophagus | ESCC | 4.08e-05 | 3.67e-01 | 0.068 |
| 55234 | SMU1 | LZE24T | Human | Esophagus | ESCC | 1.22e-16 | 5.40e-01 | 0.0596 |
| 55234 | SMU1 | LZE21T | Human | Esophagus | ESCC | 7.23e-04 | 4.55e-01 | 0.0655 |
| 55234 | SMU1 | LZE6T | Human | Esophagus | ESCC | 4.64e-06 | 2.37e-01 | 0.0845 |
| 55234 | SMU1 | P1T-E | Human | Esophagus | ESCC | 6.08e-08 | 4.67e-01 | 0.0875 |
| 55234 | SMU1 | P2T-E | Human | Esophagus | ESCC | 7.67e-51 | 9.29e-01 | 0.1177 |
| 55234 | SMU1 | P4T-E | Human | Esophagus | ESCC | 1.58e-21 | 4.70e-01 | 0.1323 |
| 55234 | SMU1 | P5T-E | Human | Esophagus | ESCC | 1.05e-30 | 7.53e-01 | 0.1327 |
| 55234 | SMU1 | P8T-E | Human | Esophagus | ESCC | 8.75e-22 | 3.90e-01 | 0.0889 |
| 55234 | SMU1 | P9T-E | Human | Esophagus | ESCC | 9.83e-18 | 4.21e-01 | 0.1131 |
| 55234 | SMU1 | P10T-E | Human | Esophagus | ESCC | 3.29e-20 | 4.91e-01 | 0.116 |
| 55234 | SMU1 | P11T-E | Human | Esophagus | ESCC | 3.65e-20 | 6.73e-01 | 0.1426 |
| 55234 | SMU1 | P12T-E | Human | Esophagus | ESCC | 2.71e-33 | 6.40e-01 | 0.1122 |
| 55234 | SMU1 | P15T-E | Human | Esophagus | ESCC | 6.52e-31 | 6.16e-01 | 0.1149 |
| 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:0008380111 | Esophagus | ESCC | RNA splicing | 336/8552 | 434/18723 | 1.74e-42 | 3.67e-39 | 336 |
| GO:0000375111 | Esophagus | ESCC | RNA splicing, via transesterification reactions | 248/8552 | 324/18723 | 3.05e-30 | 1.49e-27 | 248 |
| GO:0000377111 | Esophagus | ESCC | RNA splicing, via transesterification reactions with bulged adenosine as nucleophile | 244/8552 | 320/18723 | 2.52e-29 | 1.07e-26 | 244 |
| GO:0000398111 | Esophagus | ESCC | mRNA splicing, via spliceosome | 244/8552 | 320/18723 | 2.52e-29 | 1.07e-26 | 244 |
| GO:1903311110 | Esophagus | ESCC | regulation of mRNA metabolic process | 210/8552 | 288/18723 | 3.25e-21 | 5.56e-19 | 210 |
| GO:0043484111 | Esophagus | ESCC | regulation of RNA splicing | 116/8552 | 148/18723 | 3.18e-16 | 2.38e-14 | 116 |
| GO:0050684110 | Esophagus | ESCC | regulation of mRNA processing | 109/8552 | 137/18723 | 3.51e-16 | 2.59e-14 | 109 |
| GO:0048024111 | Esophagus | ESCC | regulation of mRNA splicing, via spliceosome | 78/8552 | 101/18723 | 8.72e-11 | 2.66e-09 | 78 |
| GO:000038019 | Esophagus | ESCC | alternative mRNA splicing, via spliceosome | 55/8552 | 77/18723 | 4.07e-06 | 4.38e-05 | 55 |
| GO:000038119 | Esophagus | ESCC | regulation of alternative mRNA splicing, via spliceosome | 40/8552 | 60/18723 | 8.30e-04 | 4.28e-03 | 40 |
| GO:000838022 | Liver | HCC | RNA splicing | 313/7958 | 434/18723 | 1.36e-36 | 1.73e-33 | 313 |
| GO:000037522 | Liver | HCC | RNA splicing, via transesterification reactions | 228/7958 | 324/18723 | 1.47e-24 | 4.06e-22 | 228 |
| GO:000037722 | Liver | HCC | RNA splicing, via transesterification reactions with bulged adenosine as nucleophile | 224/7958 | 320/18723 | 1.16e-23 | 2.62e-21 | 224 |
| GO:000039822 | Liver | HCC | mRNA splicing, via spliceosome | 224/7958 | 320/18723 | 1.16e-23 | 2.62e-21 | 224 |
| GO:190331121 | Liver | HCC | regulation of mRNA metabolic process | 205/7958 | 288/18723 | 3.38e-23 | 6.90e-21 | 205 |
| GO:004348422 | Liver | HCC | regulation of RNA splicing | 113/7958 | 148/18723 | 4.32e-17 | 4.15e-15 | 113 |
| GO:005068421 | Liver | HCC | regulation of mRNA processing | 106/7958 | 137/18723 | 7.64e-17 | 7.12e-15 | 106 |
| GO:004802422 | Liver | HCC | regulation of mRNA splicing, via spliceosome | 74/7958 | 101/18723 | 3.29e-10 | 1.10e-08 | 74 |
| GO:000038021 | Liver | HCC | alternative mRNA splicing, via spliceosome | 52/7958 | 77/18723 | 7.87e-06 | 9.27e-05 | 52 |
| GO:000038121 | Liver | HCC | regulation of alternative mRNA splicing, via spliceosome | 37/7958 | 60/18723 | 2.13e-03 | 1.07e-02 | 37 |
| Page: 1 2 3 |
| 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 |
| SMU1 | SNV | Missense_Mutation | rs780866174 | c.517C>G | p.Gln173Glu | p.Q173E | Q2TAY7 | protein_coding | deleterious(0.03) | benign(0.083) | TCGA-A2-A1G6-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | adriamycin | SD |
| SMU1 | SNV | Missense_Mutation | c.823N>A | p.Asp275Asn | p.D275N | Q2TAY7 | protein_coding | deleterious(0.04) | probably_damaging(0.979) | TCGA-AC-A23H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD | |
| SMU1 | SNV | Missense_Mutation | novel | c.1450G>A | p.Glu484Lys | p.E484K | Q2TAY7 | protein_coding | tolerated(0.14) | benign(0.152) | TCGA-EA-A3HS-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
| SMU1 | SNV | Missense_Mutation | rs762103267 | c.1198G>A | p.Val400Ile | p.V400I | Q2TAY7 | protein_coding | tolerated(0.38) | benign(0.014) | TCGA-A6-2686-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
| SMU1 | SNV | Missense_Mutation | c.479N>A | p.Arg160His | p.R160H | Q2TAY7 | protein_coding | deleterious(0.02) | possibly_damaging(0.516) | TCGA-AA-3675-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD | |
| SMU1 | SNV | Missense_Mutation | c.1415N>C | p.Val472Ala | p.V472A | Q2TAY7 | protein_coding | tolerated(0.99) | benign(0) | TCGA-AY-6197-01 | Colorectum | colon adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | SD | |
| SMU1 | SNV | Missense_Mutation | c.338G>A | p.Arg113Gln | p.R113Q | Q2TAY7 | protein_coding | deleterious(0.01) | probably_damaging(0.989) | TCGA-G4-6303-01 | Colorectum | colon adenocarcinoma | Female | <65 | III/IV | Chemotherapy | 5-fu | PD | |
| SMU1 | deletion | In_Frame_Del | novel | c.1220_1222delCTA | p.Pro407_Lys408delinsGln | p.P407_K408delinsQ | Q2TAY7 | protein_coding | TCGA-AA-3867-01 | Colorectum | colon adenocarcinoma | Male | >=65 | III/IV | Unknown | Unknown | PD | ||
| SMU1 | SNV | Missense_Mutation | c.884N>T | p.Ser295Ile | p.S295I | Q2TAY7 | protein_coding | deleterious(0) | benign(0.063) | TCGA-AP-A051-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
| SMU1 | SNV | Missense_Mutation | novel | c.852N>C | p.Gln284His | p.Q284H | Q2TAY7 | protein_coding | deleterious(0.05) | benign(0.076) | TCGA-AP-A051-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
| Page: 1 2 3 4 |
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 |