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Gene: MMS19 |
Gene summary for MMS19 |
 Gene summary. |
| Gene information | Species | Human | Gene symbol | MMS19 | Gene ID | 64210 |
| Gene name | MMS19 homolog, cytosolic iron-sulfur assembly component | |
| Gene Alias | CIAO4 | |
| Cytomap | 10q24.1 | |
| Gene Type | protein-coding | GO ID | GO:0000018 | UniProtAcc | Q96T76 |
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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 |
| 64210 | MMS19 | LZE4T | Human | Esophagus | ESCC | 2.25e-02 | 8.88e-02 | 0.0811 |
| 64210 | MMS19 | LZE8T | Human | Esophagus | ESCC | 2.53e-07 | 1.27e-01 | 0.067 |
| 64210 | MMS19 | LZE24T | Human | Esophagus | ESCC | 6.69e-13 | 2.87e-01 | 0.0596 |
| 64210 | MMS19 | P1T-E | Human | Esophagus | ESCC | 3.19e-02 | 9.16e-02 | 0.0875 |
| 64210 | MMS19 | P2T-E | Human | Esophagus | ESCC | 6.02e-24 | 2.72e-01 | 0.1177 |
| 64210 | MMS19 | P4T-E | Human | Esophagus | ESCC | 3.02e-13 | 2.78e-01 | 0.1323 |
| 64210 | MMS19 | P5T-E | Human | Esophagus | ESCC | 1.08e-08 | 1.36e-01 | 0.1327 |
| 64210 | MMS19 | P8T-E | Human | Esophagus | ESCC | 4.64e-15 | 2.28e-01 | 0.0889 |
| 64210 | MMS19 | P9T-E | Human | Esophagus | ESCC | 5.58e-06 | 1.35e-01 | 0.1131 |
| 64210 | MMS19 | P10T-E | Human | Esophagus | ESCC | 7.84e-11 | 7.56e-02 | 0.116 |
| 64210 | MMS19 | P11T-E | Human | Esophagus | ESCC | 1.35e-06 | 2.07e-01 | 0.1426 |
| 64210 | MMS19 | P12T-E | Human | Esophagus | ESCC | 4.01e-25 | 3.87e-01 | 0.1122 |
| 64210 | MMS19 | P15T-E | Human | Esophagus | ESCC | 4.24e-19 | 3.70e-01 | 0.1149 |
| 64210 | MMS19 | P16T-E | Human | Esophagus | ESCC | 1.90e-25 | 3.76e-01 | 0.1153 |
| 64210 | MMS19 | P17T-E | Human | Esophagus | ESCC | 5.50e-03 | 2.11e-01 | 0.1278 |
| 64210 | MMS19 | P19T-E | Human | Esophagus | ESCC | 5.26e-09 | 3.89e-01 | 0.1662 |
| 64210 | MMS19 | P20T-E | Human | Esophagus | ESCC | 7.98e-10 | 1.83e-01 | 0.1124 |
| 64210 | MMS19 | P21T-E | Human | Esophagus | ESCC | 1.84e-17 | 2.61e-01 | 0.1617 |
| 64210 | MMS19 | P22T-E | Human | Esophagus | ESCC | 1.79e-09 | 1.20e-01 | 0.1236 |
| 64210 | MMS19 | P23T-E | Human | Esophagus | ESCC | 7.55e-18 | 3.58e-01 | 0.108 |
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| 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 |
| ∗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:000705911 | Esophagus | ESCC | chromosome segregation | 238/8552 | 346/18723 | 1.72e-18 | 1.82e-16 | 238 |
| GO:005105215 | Esophagus | ESCC | regulation of DNA metabolic process | 232/8552 | 359/18723 | 2.40e-13 | 1.13e-11 | 232 |
| GO:005105417 | Esophagus | ESCC | positive regulation of DNA metabolic process | 139/8552 | 201/18723 | 1.20e-11 | 4.33e-10 | 139 |
| GO:005160418 | Esophagus | ESCC | protein maturation | 189/8552 | 294/18723 | 7.64e-11 | 2.39e-09 | 189 |
| GO:2001020110 | Esophagus | ESCC | regulation of response to DNA damage stimulus | 145/8552 | 219/18723 | 5.97e-10 | 1.50e-08 | 145 |
| GO:00067906 | Esophagus | ESCC | sulfur compound metabolic process | 201/8552 | 339/18723 | 2.64e-07 | 3.94e-06 | 201 |
| GO:00063024 | Esophagus | ESCC | double-strand break repair | 152/8552 | 251/18723 | 1.33e-06 | 1.62e-05 | 152 |
| GO:20010228 | Esophagus | ESCC | positive regulation of response to DNA damage stimulus | 69/8552 | 105/18723 | 2.66e-05 | 2.22e-04 | 69 |
| GO:00062826 | Esophagus | ESCC | regulation of DNA repair | 82/8552 | 130/18723 | 4.65e-05 | 3.66e-04 | 82 |
| GO:00062891 | Esophagus | ESCC | nucleotide-excision repair | 42/8552 | 60/18723 | 1.18e-04 | 8.14e-04 | 42 |
| GO:00457395 | Esophagus | ESCC | positive regulation of DNA repair | 49/8552 | 73/18723 | 1.74e-04 | 1.14e-03 | 49 |
| GO:001622611 | Esophagus | ESCC | iron-sulfur cluster assembly | 21/8552 | 26/18723 | 2.69e-04 | 1.63e-03 | 21 |
| GO:003116311 | Esophagus | ESCC | metallo-sulfur cluster assembly | 21/8552 | 26/18723 | 2.69e-04 | 1.63e-03 | 21 |
| GO:00063101 | Esophagus | ESCC | DNA recombination | 168/8552 | 305/18723 | 5.58e-04 | 3.05e-03 | 168 |
| GO:009742811 | Esophagus | ESCC | protein maturation by iron-sulfur cluster transfer | 14/8552 | 16/18723 | 6.78e-04 | 3.56e-03 | 14 |
| GO:20007793 | Esophagus | ESCC | regulation of double-strand break repair | 52/8552 | 85/18723 | 2.86e-03 | 1.21e-02 | 52 |
| GO:00007241 | Esophagus | ESCC | double-strand break repair via homologous recombination | 79/8552 | 138/18723 | 4.05e-03 | 1.62e-02 | 79 |
| GO:00007251 | Esophagus | ESCC | recombinational repair | 80/8552 | 140/18723 | 4.10e-03 | 1.63e-02 | 80 |
| GO:20007813 | Esophagus | ESCC | positive regulation of double-strand break repair | 26/8552 | 40/18723 | 1.08e-02 | 3.66e-02 | 26 |
| GO:000679021 | Liver | HCC | sulfur compound metabolic process | 212/7958 | 339/18723 | 5.60e-14 | 3.39e-12 | 212 |
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| Enriched KEGG pathways. |
| Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
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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 |
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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 |
| MMS19 | SNV | Missense_Mutation | c.2980N>G | p.Pro994Ala | p.P994A | Q96T76 | protein_coding | tolerated(1) | benign(0) | TCGA-A8-A08L-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Unknown | Unknown | SD | |
| MMS19 | SNV | Missense_Mutation | rs756307565 | c.2575N>A | p.Glu859Lys | p.E859K | Q96T76 | protein_coding | tolerated(0.16) | benign(0.003) | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
| MMS19 | SNV | Missense_Mutation | novel | c.781N>T | p.Pro261Ser | p.P261S | Q96T76 | protein_coding | deleterious(0.04) | probably_damaging(1) | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
| MMS19 | SNV | Missense_Mutation | c.2399N>T | p.Thr800Ile | p.T800I | Q96T76 | protein_coding | deleterious(0.02) | benign(0.131) | TCGA-AR-A0TU-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unspecific | Doxorubicin | SD | |
| MMS19 | insertion | Frame_Shift_Ins | novel | c.209_210insT | p.Gln70HisfsTer27 | p.Q70Hfs*27 | Q96T76 | protein_coding | TCGA-BH-A0BD-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | SD | ||
| MMS19 | insertion | Nonsense_Mutation | novel | c.208_209insCCTTGACATAACTGGG | p.Gln70ProfsTer4 | p.Q70Pfs*4 | Q96T76 | protein_coding | TCGA-BH-A0BD-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | SD | ||
| MMS19 | SNV | Missense_Mutation | novel | c.2401N>G | p.Leu801Val | p.L801V | Q96T76 | protein_coding | tolerated(0.07) | benign(0.119) | TCGA-C5-A2LZ-01 | Cervix | cervical & endocervical cancer | Female | >=65 | III/IV | Unknown | Unknown | PD |
| MMS19 | SNV | Missense_Mutation | c.952N>A | p.Glu318Lys | p.E318K | Q96T76 | protein_coding | deleterious(0) | probably_damaging(0.954) | TCGA-EK-A2PG-01 | Cervix | cervical & endocervical cancer | Female | >=65 | I/II | Unknown | Unknown | SD | |
| MMS19 | SNV | Missense_Mutation | c.1988N>T | p.Thr663Ile | p.T663I | Q96T76 | protein_coding | tolerated(0.08) | possibly_damaging(0.572) | TCGA-AA-3688-01 | Colorectum | colon adenocarcinoma | Male | >=65 | III/IV | Unknown | Unknown | SD | |
| MMS19 | SNV | Missense_Mutation | novel | c.2391G>T | p.Gln797His | p.Q797H | Q96T76 | protein_coding | deleterious(0) | benign(0.219) | TCGA-AA-3947-01 | Colorectum | colon adenocarcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
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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 |
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