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Gene: R3HDM4 |
Gene summary for R3HDM4 |
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Gene information | Species | Human | Gene symbol | R3HDM4 | Gene ID | 91300 |
Gene name | R3H domain containing 4 | |
Gene Alias | C19orf22 | |
Cytomap | 19p13.3 | |
Gene Type | protein-coding | GO ID | GO:0005575 | UniProtAcc | Q96D70 |
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Malignant transformation analysis |
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Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
91300 | R3HDM4 | PTC05 | Human | Thyroid | PTC | 1.00e-15 | 4.59e-01 | 0.2065 |
91300 | R3HDM4 | PTC06 | Human | Thyroid | PTC | 2.18e-19 | 5.06e-01 | 0.2057 |
91300 | R3HDM4 | PTC07 | Human | Thyroid | PTC | 1.71e-22 | 2.91e-01 | 0.2044 |
91300 | R3HDM4 | ATC09 | Human | Thyroid | ATC | 4.11e-05 | 2.57e-01 | 0.2871 |
91300 | R3HDM4 | ATC11 | Human | Thyroid | ATC | 5.26e-04 | 4.23e-01 | 0.3386 |
91300 | R3HDM4 | ATC12 | Human | Thyroid | ATC | 1.13e-05 | 1.17e-01 | 0.34 |
91300 | R3HDM4 | ATC13 | Human | Thyroid | ATC | 1.29e-35 | 5.02e-01 | 0.34 |
91300 | R3HDM4 | ATC1 | Human | Thyroid | ATC | 9.72e-05 | 2.62e-01 | 0.2878 |
91300 | R3HDM4 | ATC2 | Human | Thyroid | ATC | 1.55e-09 | 6.69e-01 | 0.34 |
91300 | R3HDM4 | ATC3 | Human | Thyroid | ATC | 1.47e-03 | 3.24e-01 | 0.338 |
91300 | R3HDM4 | ATC4 | Human | Thyroid | ATC | 1.36e-06 | 2.00e-01 | 0.34 |
91300 | R3HDM4 | ATC5 | Human | Thyroid | ATC | 3.70e-29 | 5.45e-01 | 0.34 |
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∗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 |
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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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GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
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Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
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Cell-cell communication analysis |
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Ligand | Receptor | LRpair | Pathway | Tissue | Disease Stage |
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Single-cell gene regulatory network inference analysis |
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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 |
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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 |
R3HDM4 | SNV | Missense_Mutation | rs537357318 | c.524N>A | p.Arg175His | p.R175H | Q96D70 | protein_coding | deleterious(0.01) | benign(0.069) | TCGA-E9-A1RE-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Hormone Therapy | tamoxiphen | SD |
R3HDM4 | insertion | Frame_Shift_Ins | novel | c.398_404dupTTCTTCG | p.Tyr136SerfsTer7 | p.Y136Sfs*7 | Q96D70 | protein_coding | TCGA-OL-A5DA-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD | ||
R3HDM4 | SNV | Missense_Mutation | rs777141353 | c.484G>A | p.Ala162Thr | p.A162T | Q96D70 | protein_coding | deleterious(0.04) | benign(0.198) | TCGA-AA-3663-01 | Colorectum | colon adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | SD |
R3HDM4 | SNV | Missense_Mutation | novel | c.506N>C | p.Phe169Ser | p.F169S | Q96D70 | protein_coding | deleterious(0) | probably_damaging(0.948) | TCGA-CK-4951-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
R3HDM4 | SNV | Missense_Mutation | c.648N>G | p.Ser216Arg | p.S216R | Q96D70 | protein_coding | deleterious(0.04) | benign(0.003) | TCGA-CM-4752-01 | Colorectum | colon adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | SD | |
R3HDM4 | SNV | Missense_Mutation | novel | c.649N>A | p.Phe217Ile | p.F217I | Q96D70 | protein_coding | deleterious(0) | benign(0.104) | TCGA-CM-5341-01 | Colorectum | colon adenocarcinoma | Female | >=65 | III/IV | Chemotherapy | fluorouracil | SD |
R3HDM4 | SNV | Missense_Mutation | c.119G>A | p.Arg40Lys | p.R40K | Q96D70 | protein_coding | tolerated(0.17) | benign(0.092) | TCGA-CM-6680-01 | Colorectum | colon adenocarcinoma | Female | >=65 | III/IV | Unknown | Unknown | SD | |
R3HDM4 | SNV | Missense_Mutation | rs768386258 | c.784N>A | p.Ala262Thr | p.A262T | Q96D70 | protein_coding | tolerated(0.14) | benign(0.422) | TCGA-NH-A5IV-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
R3HDM4 | SNV | Missense_Mutation | rs537357318 | c.524N>A | p.Arg175His | p.R175H | Q96D70 | protein_coding | deleterious(0.01) | benign(0.069) | TCGA-WS-AB45-01 | Colorectum | colon adenocarcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
R3HDM4 | SNV | Missense_Mutation | novel | c.194N>G | p.Lys65Arg | p.K65R | Q96D70 | protein_coding | tolerated(0.08) | probably_damaging(0.984) | TCGA-A5-A1OF-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
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Related drugs of malignant transformation related genes |
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(DGIdb 4.0) |
Entrez ID | Symbol | Category | Interaction Types | Drug Claim Name | Drug Name | PMIDs |
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