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Gene: RECQL4 |
Gene summary for RECQL4 |
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Gene information | Species | Human | Gene symbol | RECQL4 | Gene ID | 9401 |
Gene name | RecQ like helicase 4 | |
Gene Alias | RECQ4 | |
Cytomap | 8q24.3 | |
Gene Type | protein-coding | GO ID | GO:0000723 | UniProtAcc | O94761 |
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Malignant transformation analysis |
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Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
9401 | RECQL4 | P2T-E | Human | Esophagus | ESCC | 1.66e-02 | 1.27e-01 | 0.1177 |
9401 | RECQL4 | P5T-E | Human | Esophagus | ESCC | 2.02e-06 | 1.32e-01 | 0.1327 |
9401 | RECQL4 | P8T-E | Human | Esophagus | ESCC | 1.88e-11 | 2.90e-01 | 0.0889 |
9401 | RECQL4 | P9T-E | Human | Esophagus | ESCC | 8.38e-03 | 1.03e-01 | 0.1131 |
9401 | RECQL4 | P10T-E | Human | Esophagus | ESCC | 7.90e-03 | 8.28e-02 | 0.116 |
9401 | RECQL4 | P16T-E | Human | Esophagus | ESCC | 4.31e-06 | 1.18e-01 | 0.1153 |
9401 | RECQL4 | P17T-E | Human | Esophagus | ESCC | 4.79e-04 | 2.33e-01 | 0.1278 |
9401 | RECQL4 | P21T-E | Human | Esophagus | ESCC | 1.88e-04 | 1.31e-01 | 0.1617 |
9401 | RECQL4 | P24T-E | Human | Esophagus | ESCC | 1.66e-02 | 9.07e-02 | 0.1287 |
9401 | RECQL4 | P26T-E | Human | Esophagus | ESCC | 4.12e-11 | 3.19e-01 | 0.1276 |
9401 | RECQL4 | P27T-E | Human | Esophagus | ESCC | 3.97e-04 | 1.46e-01 | 0.1055 |
9401 | RECQL4 | P28T-E | Human | Esophagus | ESCC | 9.35e-10 | 2.22e-01 | 0.1149 |
9401 | RECQL4 | P31T-E | Human | Esophagus | ESCC | 1.78e-03 | 1.22e-01 | 0.1251 |
9401 | RECQL4 | P32T-E | Human | Esophagus | ESCC | 8.40e-04 | 1.18e-01 | 0.1666 |
9401 | RECQL4 | P37T-E | Human | Esophagus | ESCC | 2.88e-04 | 1.19e-01 | 0.1371 |
9401 | RECQL4 | P52T-E | Human | Esophagus | ESCC | 7.98e-13 | 2.18e-01 | 0.1555 |
9401 | RECQL4 | P54T-E | Human | Esophagus | ESCC | 1.28e-04 | 1.79e-01 | 0.0975 |
9401 | RECQL4 | P74T-E | Human | Esophagus | ESCC | 2.69e-06 | 2.14e-01 | 0.1479 |
9401 | RECQL4 | P75T-E | Human | Esophagus | ESCC | 8.40e-04 | 1.45e-01 | 0.1125 |
9401 | RECQL4 | P79T-E | Human | Esophagus | ESCC | 7.90e-03 | 1.02e-01 | 0.1154 |
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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 |
GO:00062604 | Esophagus | ESCC | DNA replication | 181/8552 | 260/18723 | 3.55e-15 | 2.05e-13 | 181 |
GO:000072319 | Esophagus | ESCC | telomere maintenance | 99/8552 | 131/18723 | 2.68e-12 | 1.08e-10 | 99 |
GO:00062612 | Esophagus | ESCC | DNA-dependent DNA replication | 100/8552 | 151/18723 | 2.61e-07 | 3.94e-06 | 100 |
GO:00063024 | Esophagus | ESCC | double-strand break repair | 152/8552 | 251/18723 | 1.33e-06 | 1.62e-05 | 152 |
GO:003239214 | Esophagus | ESCC | DNA geometric change | 62/8552 | 90/18723 | 7.02e-06 | 7.04e-05 | 62 |
GO:003250813 | Esophagus | ESCC | DNA duplex unwinding | 58/8552 | 84/18723 | 1.23e-05 | 1.14e-04 | 58 |
GO:003220014 | Esophagus | ESCC | telomere organization | 99/8552 | 159/18723 | 1.77e-05 | 1.57e-04 | 99 |
GO:00063101 | Esophagus | ESCC | DNA recombination | 168/8552 | 305/18723 | 5.58e-04 | 3.05e-03 | 168 |
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:000072311 | Liver | HCC | telomere maintenance | 85/7958 | 131/18723 | 1.86e-07 | 3.40e-06 | 85 |
GO:00062601 | Liver | HCC | DNA replication | 146/7958 | 260/18723 | 5.68e-06 | 7.02e-05 | 146 |
GO:003239211 | Liver | HCC | DNA geometric change | 54/7958 | 90/18723 | 6.04e-04 | 3.79e-03 | 54 |
GO:00063021 | Liver | HCC | double-strand break repair | 131/7958 | 251/18723 | 1.17e-03 | 6.54e-03 | 131 |
GO:00322001 | Liver | HCC | telomere organization | 86/7958 | 159/18723 | 2.06e-03 | 1.04e-02 | 86 |
GO:00325081 | Liver | HCC | DNA duplex unwinding | 49/7958 | 84/18723 | 2.46e-03 | 1.19e-02 | 49 |
GO:0006261 | Liver | HCC | DNA-dependent DNA replication | 80/7958 | 151/18723 | 5.91e-03 | 2.44e-02 | 80 |
GO:00062603 | Oral cavity | OSCC | DNA replication | 159/7305 | 260/18723 | 3.25e-13 | 1.59e-11 | 159 |
GO:000072316 | Oral cavity | OSCC | telomere maintenance | 85/7305 | 131/18723 | 1.72e-09 | 4.09e-08 | 85 |
GO:00323925 | Oral cavity | OSCC | DNA geometric change | 59/7305 | 90/18723 | 3.03e-07 | 4.63e-06 | 59 |
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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 |
RECQL4 | SNV | Missense_Mutation | novel | c.2537T>C | p.Val846Ala | p.V846A | protein_coding | deleterious(0) | benign(0.444) | TCGA-EO-A22U-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
RECQL4 | SNV | Missense_Mutation | novel | c.540C>A | p.Ser180Arg | p.S180R | protein_coding | tolerated(0.08) | benign(0.149) | TCGA-EO-A22U-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
RECQL4 | SNV | Missense_Mutation | rs768539707 | c.232T>G | p.Trp78Gly | p.W78G | protein_coding | deleterious(0) | probably_damaging(0.993) | TCGA-EO-A22U-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
RECQL4 | SNV | Missense_Mutation | rs781751586 | c.3190C>T | p.Arg1064Cys | p.R1064C | protein_coding | deleterious(0.02) | benign(0.018) | TCGA-EO-A3B0-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD | |
RECQL4 | SNV | Missense_Mutation | novel | c.3121N>T | p.Gly1041Trp | p.G1041W | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-EY-A1GU-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
RECQL4 | SNV | Missense_Mutation | rs199562131 | c.2125N>T | p.Arg709Trp | p.R709W | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-EY-A215-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD | |
RECQL4 | SNV | Missense_Mutation | novel | c.880N>C | p.Val294Leu | p.V294L | protein_coding | tolerated(0.69) | benign(0) | TCGA-EY-A4KR-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | carboplatin | PD | |
RECQL4 | SNV | Missense_Mutation | rs375432640 | c.3418N>T | p.Arg1140Cys | p.R1140C | protein_coding | tolerated(0.09) | possibly_damaging(0.448) | TCGA-FI-A2D0-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD | |
RECQL4 | SNV | Missense_Mutation | novel | c.1514N>C | p.Gly505Ala | p.G505A | protein_coding | deleterious(0.01) | probably_damaging(1) | TCGA-2Y-A9GU-01 | Liver | liver hepatocellular carcinoma | Female | <65 | I/II | Unknown | Unknown | SD | |
RECQL4 | SNV | Missense_Mutation | rs756449897 | c.2537T>G | p.Val846Gly | p.V846G | protein_coding | deleterious(0) | probably_damaging(0.929) | TCGA-BC-A10S-01 | Liver | liver hepatocellular carcinoma | Male | >=65 | III/IV | Unknown | Unknown | PD |
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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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