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Gene: RMI2 |
Gene summary for RMI2 |
Gene summary. |
Gene information | Species | Human | Gene symbol | RMI2 | Gene ID | 116028 |
Gene name | RecQ mediated genome instability 2 | |
Gene Alias | BLAP18 | |
Cytomap | 16p13.13 | |
Gene Type | protein-coding | GO ID | GO:0000018 | UniProtAcc | Q96E14 |
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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 |
116028 | RMI2 | LZE2T | Human | Esophagus | ESCC | 3.83e-02 | 3.60e-01 | 0.082 |
116028 | RMI2 | LZE24T | Human | Esophagus | ESCC | 6.11e-03 | 7.40e-02 | 0.0596 |
116028 | RMI2 | P1T-E | Human | Esophagus | ESCC | 1.32e-04 | 2.20e-01 | 0.0875 |
116028 | RMI2 | P2T-E | Human | Esophagus | ESCC | 2.07e-74 | 1.49e+00 | 0.1177 |
116028 | RMI2 | P4T-E | Human | Esophagus | ESCC | 5.53e-24 | 6.74e-01 | 0.1323 |
116028 | RMI2 | P5T-E | Human | Esophagus | ESCC | 1.75e-11 | 2.58e-01 | 0.1327 |
116028 | RMI2 | P8T-E | Human | Esophagus | ESCC | 1.47e-14 | 2.92e-01 | 0.0889 |
116028 | RMI2 | P9T-E | Human | Esophagus | ESCC | 4.32e-05 | 1.60e-01 | 0.1131 |
116028 | RMI2 | P10T-E | Human | Esophagus | ESCC | 1.66e-02 | 9.99e-02 | 0.116 |
116028 | RMI2 | P12T-E | Human | Esophagus | ESCC | 3.19e-23 | 4.17e-01 | 0.1122 |
116028 | RMI2 | P15T-E | Human | Esophagus | ESCC | 4.23e-13 | 1.43e-01 | 0.1149 |
116028 | RMI2 | P16T-E | Human | Esophagus | ESCC | 7.52e-23 | 4.24e-01 | 0.1153 |
116028 | RMI2 | P20T-E | Human | Esophagus | ESCC | 4.42e-07 | 2.36e-01 | 0.1124 |
116028 | RMI2 | P21T-E | Human | Esophagus | ESCC | 3.75e-03 | 9.54e-02 | 0.1617 |
116028 | RMI2 | P22T-E | Human | Esophagus | ESCC | 9.02e-11 | 2.35e-01 | 0.1236 |
116028 | RMI2 | P23T-E | Human | Esophagus | ESCC | 1.77e-07 | 1.97e-01 | 0.108 |
116028 | RMI2 | P24T-E | Human | Esophagus | ESCC | 1.88e-04 | 1.63e-01 | 0.1287 |
116028 | RMI2 | P26T-E | Human | Esophagus | ESCC | 9.53e-09 | 2.22e-01 | 0.1276 |
116028 | RMI2 | P27T-E | Human | Esophagus | ESCC | 9.35e-10 | 2.21e-01 | 0.1055 |
116028 | RMI2 | P28T-E | Human | Esophagus | ESCC | 9.74e-22 | 3.75e-01 | 0.1149 |
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Transcriptomic changes along malignancy continuum. |
∗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). |
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Enriched GO biological processes. |
GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:005105210 | Oral cavity | OSCC | regulation of DNA metabolic process | 207/7305 | 359/18723 | 4.45e-13 | 2.17e-11 | 207 |
GO:00988132 | Oral cavity | OSCC | nuclear chromosome segregation | 162/7305 | 281/18723 | 1.56e-10 | 4.56e-09 | 162 |
GO:200102017 | Oral cavity | OSCC | regulation of response to DNA damage stimulus | 131/7305 | 219/18723 | 3.21e-10 | 8.72e-09 | 131 |
GO:00519832 | Oral cavity | OSCC | regulation of chromosome segregation | 58/7305 | 91/18723 | 1.54e-06 | 2.03e-05 | 58 |
GO:00330451 | Oral cavity | OSCC | regulation of sister chromatid segregation | 47/7305 | 72/18723 | 5.69e-06 | 6.33e-05 | 47 |
GO:00063023 | Oral cavity | OSCC | double-strand break repair | 132/7305 | 251/18723 | 7.93e-06 | 8.52e-05 | 132 |
GO:00062825 | Oral cavity | OSCC | regulation of DNA repair | 75/7305 | 130/18723 | 1.19e-05 | 1.21e-04 | 75 |
GO:20010213 | Oral cavity | OSCC | negative regulation of response to DNA damage stimulus | 49/7305 | 81/18723 | 7.27e-05 | 5.72e-04 | 49 |
GO:0006310 | Oral cavity | OSCC | DNA recombination | 147/7305 | 305/18723 | 6.33e-04 | 3.56e-03 | 147 |
GO:20007792 | Oral cavity | OSCC | regulation of double-strand break repair | 48/7305 | 85/18723 | 8.14e-04 | 4.35e-03 | 48 |
GO:0000725 | Oral cavity | OSCC | recombinational repair | 70/7305 | 140/18723 | 5.22e-03 | 2.03e-02 | 70 |
GO:0000724 | Oral cavity | OSCC | double-strand break repair via homologous recombination | 69/7305 | 138/18723 | 5.52e-03 | 2.14e-02 | 69 |
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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. |
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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 |
RMI2 | SNV | Missense_Mutation | c.431G>T | p.Arg144Met | p.R144M | Q96E14 | protein_coding | deleterious(0) | probably_damaging(0.985) | TCGA-AD-6895-01 | Colorectum | colon adenocarcinoma | Male | >=65 | III/IV | Unknown | Unknown | SD | |
RMI2 | SNV | Missense_Mutation | novel | c.300N>T | p.Lys100Asn | p.K100N | Q96E14 | protein_coding | tolerated(0.12) | probably_damaging(0.971) | TCGA-AP-A056-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
RMI2 | SNV | Missense_Mutation | novel | c.371N>C | p.Asp124Ala | p.D124A | Q96E14 | protein_coding | deleterious(0) | probably_damaging(0.979) | TCGA-AX-A06F-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | carboplatin | SD |
RMI2 | SNV | Missense_Mutation | novel | c.208N>T | p.Gly70Cys | p.G70C | Q96E14 | protein_coding | deleterious(0.02) | probably_damaging(1) | TCGA-56-8305-01 | Lung | lung squamous cell carcinoma | Male | >=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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