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Gene: NR1D1 |
Gene summary for NR1D1 |
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Gene information | Species | Human | Gene symbol | NR1D1 | Gene ID | 9572 |
Gene name | nuclear receptor subfamily 1 group D member 1 | |
Gene Alias | EAR1 | |
Cytomap | 17q21.1 | |
Gene Type | protein-coding | GO ID | GO:0000122 | UniProtAcc | F1D8S3 |
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Malignant transformation analysis |
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Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
9572 | NR1D1 | LZE7T | Human | Esophagus | ESCC | 3.93e-10 | 2.53e-01 | 0.0667 |
9572 | NR1D1 | LZE8T | Human | Esophagus | ESCC | 1.80e-05 | 2.20e-01 | 0.067 |
9572 | NR1D1 | LZE24T | Human | Esophagus | ESCC | 9.69e-04 | 3.82e-01 | 0.0596 |
9572 | NR1D1 | LZE6T | Human | Esophagus | ESCC | 1.59e-06 | 1.65e-01 | 0.0845 |
9572 | NR1D1 | P1T-E | Human | Esophagus | ESCC | 6.47e-05 | 5.37e-01 | 0.0875 |
9572 | NR1D1 | P2T-E | Human | Esophagus | ESCC | 2.50e-07 | 2.43e-01 | 0.1177 |
9572 | NR1D1 | P4T-E | Human | Esophagus | ESCC | 1.15e-08 | -1.03e-02 | 0.1323 |
9572 | NR1D1 | P5T-E | Human | Esophagus | ESCC | 2.11e-06 | -3.29e-02 | 0.1327 |
9572 | NR1D1 | P8T-E | Human | Esophagus | ESCC | 1.27e-06 | 1.00e-01 | 0.0889 |
9572 | NR1D1 | P9T-E | Human | Esophagus | ESCC | 6.60e-04 | -1.78e-02 | 0.1131 |
9572 | NR1D1 | P11T-E | Human | Esophagus | ESCC | 1.29e-02 | 1.48e-01 | 0.1426 |
9572 | NR1D1 | P12T-E | Human | Esophagus | ESCC | 3.95e-23 | 6.33e-01 | 0.1122 |
9572 | NR1D1 | P15T-E | Human | Esophagus | ESCC | 1.88e-07 | 2.39e-01 | 0.1149 |
9572 | NR1D1 | P16T-E | Human | Esophagus | ESCC | 3.48e-03 | -5.01e-02 | 0.1153 |
9572 | NR1D1 | P19T-E | Human | Esophagus | ESCC | 9.19e-03 | 1.36e-01 | 0.1662 |
9572 | NR1D1 | P20T-E | Human | Esophagus | ESCC | 6.28e-11 | 6.59e-01 | 0.1124 |
9572 | NR1D1 | P21T-E | Human | Esophagus | ESCC | 5.94e-16 | 6.77e-01 | 0.1617 |
9572 | NR1D1 | P23T-E | Human | Esophagus | ESCC | 1.15e-17 | 8.03e-01 | 0.108 |
9572 | NR1D1 | P24T-E | Human | Esophagus | ESCC | 1.62e-05 | 2.70e-01 | 0.1287 |
9572 | NR1D1 | P26T-E | Human | Esophagus | ESCC | 5.65e-18 | 5.51e-01 | 0.1276 |
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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:0010498111 | Esophagus | ESCC | proteasomal protein catabolic process | 369/8552 | 490/18723 | 1.13e-41 | 1.80e-38 | 369 |
GO:0031647111 | Esophagus | ESCC | regulation of protein stability | 223/8552 | 298/18723 | 5.76e-25 | 1.52e-22 | 223 |
GO:0006091110 | Esophagus | ESCC | generation of precursor metabolites and energy | 331/8552 | 490/18723 | 3.86e-23 | 8.45e-21 | 331 |
GO:0015980110 | Esophagus | ESCC | energy derivation by oxidation of organic compounds | 220/8552 | 318/18723 | 1.20e-17 | 1.09e-15 | 220 |
GO:0043122110 | Esophagus | ESCC | regulation of I-kappaB kinase/NF-kappaB signaling | 167/8552 | 249/18723 | 6.11e-12 | 2.32e-10 | 167 |
GO:000724919 | Esophagus | ESCC | I-kappaB kinase/NF-kappaB signaling | 183/8552 | 281/18723 | 3.02e-11 | 1.01e-09 | 183 |
GO:0030522110 | Esophagus | ESCC | intracellular receptor signaling pathway | 170/8552 | 265/18723 | 8.58e-10 | 2.09e-08 | 170 |
GO:0048545111 | Esophagus | ESCC | response to steroid hormone | 204/8552 | 339/18723 | 4.47e-08 | 8.11e-07 | 204 |
GO:0071383110 | Esophagus | ESCC | cellular response to steroid hormone stimulus | 127/8552 | 204/18723 | 1.26e-06 | 1.55e-05 | 127 |
GO:004340119 | Esophagus | ESCC | steroid hormone mediated signaling pathway | 87/8552 | 136/18723 | 1.25e-05 | 1.15e-04 | 87 |
GO:003461220 | Esophagus | ESCC | response to tumor necrosis factor | 149/8552 | 253/18723 | 1.47e-05 | 1.33e-04 | 149 |
GO:003292215 | Esophagus | ESCC | circadian regulation of gene expression | 48/8552 | 68/18723 | 2.76e-05 | 2.30e-04 | 48 |
GO:00454449 | Esophagus | ESCC | fat cell differentiation | 135/8552 | 229/18723 | 3.38e-05 | 2.78e-04 | 135 |
GO:00420636 | Esophagus | ESCC | gliogenesis | 172/8552 | 301/18723 | 3.75e-05 | 3.04e-04 | 172 |
GO:005076710 | Esophagus | ESCC | regulation of neurogenesis | 203/8552 | 364/18723 | 6.10e-05 | 4.68e-04 | 203 |
GO:003249619 | Esophagus | ESCC | response to lipopolysaccharide | 191/8552 | 343/18723 | 1.11e-04 | 7.73e-04 | 191 |
GO:005067318 | Esophagus | ESCC | epithelial cell proliferation | 238/8552 | 437/18723 | 1.19e-04 | 8.20e-04 | 238 |
GO:00442626 | Esophagus | ESCC | cellular carbohydrate metabolic process | 160/8552 | 283/18723 | 1.43e-04 | 9.66e-04 | 160 |
GO:007135620 | Esophagus | ESCC | cellular response to tumor necrosis factor | 132/8552 | 229/18723 | 1.69e-04 | 1.11e-03 | 132 |
GO:00463948 | Esophagus | ESCC | carboxylic acid biosynthetic process | 175/8552 | 314/18723 | 1.98e-04 | 1.26e-03 | 175 |
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Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
hsa047105 | Esophagus | ESCC | Circadian rhythm | 24/4205 | 34/8465 | 1.09e-02 | 2.51e-02 | 1.29e-02 | 24 |
hsa0471012 | Esophagus | ESCC | Circadian rhythm | 24/4205 | 34/8465 | 1.09e-02 | 2.51e-02 | 1.29e-02 | 24 |
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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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∗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 |
NR1D1 | SNV | Missense_Mutation | novel | c.1426N>G | p.Thr476Ala | p.T476A | P20393 | protein_coding | deleterious(0.03) | possibly_damaging(0.569) | TCGA-AA-3864-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD |
NR1D1 | SNV | Missense_Mutation | c.469C>T | p.Arg157Cys | p.R157C | P20393 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-AA-A01K-01 | Colorectum | colon adenocarcinoma | Female | >=65 | III/IV | Chemotherapy | folinic | CR | |
NR1D1 | SNV | Missense_Mutation | c.442G>A | p.Ala148Thr | p.A148T | P20393 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-AA-A01R-01 | Colorectum | colon adenocarcinoma | Male | <65 | III/IV | Chemotherapy | 5-fluorouracil | PD | |
NR1D1 | SNV | Missense_Mutation | c.1751N>T | p.Arg584Leu | p.R584L | P20393 | protein_coding | tolerated(0.46) | possibly_damaging(0.532) | TCGA-AA-A02K-01 | Colorectum | colon adenocarcinoma | Male | <65 | III/IV | Chemotherapy | folinic | PD | |
NR1D1 | SNV | Missense_Mutation | rs751801001 | c.260N>T | p.Ser87Leu | p.S87L | P20393 | protein_coding | deleterious(0.02) | benign(0.011) | TCGA-AA-A02O-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD |
NR1D1 | SNV | Missense_Mutation | c.37G>A | p.Val13Ile | p.V13I | P20393 | protein_coding | deleterious(0) | probably_damaging(0.955) | TCGA-AZ-4313-01 | Colorectum | colon adenocarcinoma | Female | <65 | I/II | Unknown | Unknown | SD | |
NR1D1 | SNV | Missense_Mutation | rs373443634 | c.1075C>T | p.Arg359Cys | p.R359C | P20393 | protein_coding | tolerated(0.1) | benign(0.001) | TCGA-CK-4951-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
NR1D1 | SNV | Missense_Mutation | novel | c.565C>T | p.Arg189Cys | p.R189C | P20393 | protein_coding | deleterious(0) | probably_damaging(0.982) | TCGA-CK-4951-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
NR1D1 | SNV | Missense_Mutation | c.1148G>A | p.Ser383Asn | p.S383N | P20393 | protein_coding | tolerated(0.18) | benign(0.007) | TCGA-F4-6570-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
NR1D1 | SNV | Missense_Mutation | rs201684407 | c.1694N>T | p.Thr565Met | p.T565M | P20393 | protein_coding | deleterious(0.02) | probably_damaging(0.989) | TCGA-DC-6682-01 | Colorectum | rectum adenocarcinoma | Male | <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 |
9572 | NR1D1 | NUCLEAR HORMONE RECEPTOR, DRUGGABLE GENOME, TRANSCRIPTION FACTOR, ENZYME | SR9011 | SR9011 | 23656296 | |
9572 | NR1D1 | NUCLEAR HORMONE RECEPTOR, DRUGGABLE GENOME, TRANSCRIPTION FACTOR, ENZYME | agonist | 135650323 | GSK-4112 | |
9572 | NR1D1 | NUCLEAR HORMONE RECEPTOR, DRUGGABLE GENOME, TRANSCRIPTION FACTOR, ENZYME | antagonist | 135651083 | ||
9572 | NR1D1 | NUCLEAR HORMONE RECEPTOR, DRUGGABLE GENOME, TRANSCRIPTION FACTOR, ENZYME | agonist | 310264681 | SR9011 | |
9572 | NR1D1 | NUCLEAR HORMONE RECEPTOR, DRUGGABLE GENOME, TRANSCRIPTION FACTOR, ENZYME | GSK-4112 | GSK-4112 | 23656296 | |
9572 | NR1D1 | NUCLEAR HORMONE RECEPTOR, DRUGGABLE GENOME, TRANSCRIPTION FACTOR, ENZYME | lithium | LITHIUM | 20348464 | |
9572 | NR1D1 | NUCLEAR HORMONE RECEPTOR, DRUGGABLE GENOME, TRANSCRIPTION FACTOR, ENZYME | agonist | 178101166 | ||
9572 | NR1D1 | NUCLEAR HORMONE RECEPTOR, DRUGGABLE GENOME, TRANSCRIPTION FACTOR, ENZYME | agonist | 310264682 | SR9009 |
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