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Gene: DHCR7 |
Gene summary for DHCR7 |
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Gene information | Species | Human | Gene symbol | DHCR7 | Gene ID | 1717 |
Gene name | 7-dehydrocholesterol reductase | |
Gene Alias | SLOS | |
Cytomap | 11q13.4 | |
Gene Type | protein-coding | GO ID | GO:0006066 | UniProtAcc | A0A024R5F7 |
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Malignant transformation analysis |
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Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
1717 | DHCR7 | LZE2T | Human | Esophagus | ESCC | 1.31e-06 | 1.00e+00 | 0.082 |
1717 | DHCR7 | LZE4T | Human | Esophagus | ESCC | 1.51e-24 | 1.05e+00 | 0.0811 |
1717 | DHCR7 | LZE5T | Human | Esophagus | ESCC | 1.96e-02 | 4.32e-01 | 0.0514 |
1717 | DHCR7 | LZE7T | Human | Esophagus | ESCC | 2.89e-06 | 4.27e-01 | 0.0667 |
1717 | DHCR7 | LZE8T | Human | Esophagus | ESCC | 8.69e-09 | 5.92e-01 | 0.067 |
1717 | DHCR7 | LZE22T | Human | Esophagus | ESCC | 6.89e-09 | 1.43e+00 | 0.068 |
1717 | DHCR7 | LZE24T | Human | Esophagus | ESCC | 6.70e-15 | 4.04e-01 | 0.0596 |
1717 | DHCR7 | LZE21T | Human | Esophagus | ESCC | 2.62e-09 | 6.75e-01 | 0.0655 |
1717 | DHCR7 | LZE6T | Human | Esophagus | ESCC | 1.94e-03 | 1.05e-01 | 0.0845 |
1717 | DHCR7 | P1T-E | Human | Esophagus | ESCC | 2.81e-02 | 1.31e-01 | 0.0875 |
1717 | DHCR7 | P2T-E | Human | Esophagus | ESCC | 1.64e-124 | 2.86e+00 | 0.1177 |
1717 | DHCR7 | P4T-E | Human | Esophagus | ESCC | 1.21e-50 | 1.35e+00 | 0.1323 |
1717 | DHCR7 | P5T-E | Human | Esophagus | ESCC | 1.18e-13 | 3.36e-01 | 0.1327 |
1717 | DHCR7 | P8T-E | Human | Esophagus | ESCC | 1.87e-52 | 1.20e+00 | 0.0889 |
1717 | DHCR7 | P9T-E | Human | Esophagus | ESCC | 6.67e-11 | 4.66e-01 | 0.1131 |
1717 | DHCR7 | P10T-E | Human | Esophagus | ESCC | 1.14e-70 | 1.63e+00 | 0.116 |
1717 | DHCR7 | P11T-E | Human | Esophagus | ESCC | 3.28e-05 | 2.03e-01 | 0.1426 |
1717 | DHCR7 | P12T-E | Human | Esophagus | ESCC | 1.31e-28 | 5.59e-01 | 0.1122 |
1717 | DHCR7 | P15T-E | Human | Esophagus | ESCC | 7.55e-25 | 7.22e-01 | 0.1149 |
1717 | DHCR7 | P16T-E | Human | Esophagus | ESCC | 1.25e-52 | 9.63e-01 | 0.1153 |
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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:001612611 | Oral cavity | LP | sterol biosynthetic process | 27/4623 | 64/18723 | 1.57e-03 | 1.21e-02 | 27 |
GO:000606613 | Oral cavity | LP | alcohol metabolic process | 111/4623 | 353/18723 | 2.24e-03 | 1.62e-02 | 111 |
GO:000669511 | Oral cavity | LP | cholesterol biosynthetic process | 24/4623 | 57/18723 | 2.88e-03 | 2.00e-02 | 24 |
GO:190265311 | Oral cavity | LP | secondary alcohol biosynthetic process | 24/4623 | 57/18723 | 2.88e-03 | 2.00e-02 | 24 |
GO:000669412 | Oral cavity | LP | steroid biosynthetic process | 58/4623 | 173/18723 | 5.44e-03 | 3.31e-02 | 58 |
GO:000820311 | Oral cavity | LP | cholesterol metabolic process | 47/4623 | 137/18723 | 7.20e-03 | 4.04e-02 | 47 |
GO:001612511 | Oral cavity | LP | sterol metabolic process | 51/4623 | 152/18723 | 8.57e-03 | 4.63e-02 | 51 |
GO:00066954 | Skin | cSCC | cholesterol biosynthetic process | 25/4864 | 57/18723 | 2.55e-03 | 1.45e-02 | 25 |
GO:19026534 | Skin | cSCC | secondary alcohol biosynthetic process | 25/4864 | 57/18723 | 2.55e-03 | 1.45e-02 | 25 |
GO:00161264 | Skin | cSCC | sterol biosynthetic process | 27/4864 | 64/18723 | 3.44e-03 | 1.86e-02 | 27 |
GO:19026525 | Skin | cSCC | secondary alcohol metabolic process | 53/4864 | 147/18723 | 4.33e-03 | 2.27e-02 | 53 |
GO:00461654 | Skin | cSCC | alcohol biosynthetic process | 50/4864 | 140/18723 | 6.73e-03 | 3.27e-02 | 50 |
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Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
hsa001005 | Esophagus | ESCC | Steroid biosynthesis | 18/4205 | 20/8465 | 1.78e-04 | 6.79e-04 | 3.48e-04 | 18 |
hsa0010012 | Esophagus | ESCC | Steroid biosynthesis | 18/4205 | 20/8465 | 1.78e-04 | 6.79e-04 | 3.48e-04 | 18 |
hsa00100 | Liver | Cirrhotic | Steroid biosynthesis | 12/2530 | 20/8465 | 4.92e-03 | 1.76e-02 | 1.09e-02 | 12 |
hsa001001 | Liver | Cirrhotic | Steroid biosynthesis | 12/2530 | 20/8465 | 4.92e-03 | 1.76e-02 | 1.09e-02 | 12 |
hsa001002 | Liver | HCC | Steroid biosynthesis | 15/4020 | 20/8465 | 1.17e-02 | 2.97e-02 | 1.65e-02 | 15 |
hsa001003 | Liver | HCC | Steroid biosynthesis | 15/4020 | 20/8465 | 1.17e-02 | 2.97e-02 | 1.65e-02 | 15 |
hsa001004 | Oral cavity | OSCC | Steroid biosynthesis | 15/3704 | 20/8465 | 4.62e-03 | 1.13e-02 | 5.75e-03 | 15 |
hsa0010011 | Oral cavity | OSCC | Steroid biosynthesis | 15/3704 | 20/8465 | 4.62e-03 | 1.13e-02 | 5.75e-03 | 15 |
hsa0010021 | Oral cavity | LP | Steroid biosynthesis | 11/2418 | 20/8465 | 1.16e-02 | 3.91e-02 | 2.52e-02 | 11 |
hsa0010031 | Oral cavity | LP | Steroid biosynthesis | 11/2418 | 20/8465 | 1.16e-02 | 3.91e-02 | 2.52e-02 | 11 |
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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 |
DHCR7 | SNV | Missense_Mutation | rs761788547 | c.182G>T | p.Cys61Phe | p.C61F | Q9UBM7 | protein_coding | deleterious(0.01) | probably_damaging(0.987) | TCGA-B6-A0WW-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | PD |
DHCR7 | SNV | Missense_Mutation | rs761265690 | c.122C>T | p.Ala41Val | p.A41V | Q9UBM7 | protein_coding | tolerated(0.73) | benign(0.007) | TCGA-BH-AB28-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | taxotere | SD |
DHCR7 | SNV | Missense_Mutation | c.151N>G | p.Pro51Ala | p.P51A | Q9UBM7 | protein_coding | deleterious(0.01) | probably_damaging(1) | TCGA-E2-A1IK-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | arimidex | SD | |
DHCR7 | SNV | Missense_Mutation | rs779222334 | c.160N>A | p.Val54Ile | p.V54I | Q9UBM7 | protein_coding | tolerated(0.16) | possibly_damaging(0.688) | TCGA-A6-2672-01 | Colorectum | colon adenocarcinoma | Female | >=65 | III/IV | Unknown | Unknown | SD |
DHCR7 | SNV | Missense_Mutation | rs773048017 | c.645N>A | p.Phe215Leu | p.F215L | Q9UBM7 | protein_coding | tolerated(0.33) | benign(0.006) | TCGA-AA-3510-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD |
DHCR7 | SNV | Missense_Mutation | rs151170252 | c.583N>A | p.Ala195Thr | p.A195T | Q9UBM7 | protein_coding | deleterious(0.02) | possibly_damaging(0.542) | TCGA-AA-3821-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
DHCR7 | SNV | Missense_Mutation | novel | c.1285C>T | p.Pro429Ser | p.P429S | Q9UBM7 | protein_coding | deleterious(0.01) | probably_damaging(0.997) | TCGA-AA-A022-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
DHCR7 | SNV | Missense_Mutation | rs367585401 | c.91N>A | p.Arg31Ser | p.R31S | Q9UBM7 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-AD-5900-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD |
DHCR7 | SNV | Missense_Mutation | novel | c.398C>T | p.Ala133Val | p.A133V | Q9UBM7 | protein_coding | deleterious(0.04) | possibly_damaging(0.886) | TCGA-A5-A0G1-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
DHCR7 | SNV | Missense_Mutation | novel | c.620N>T | p.Arg207Ile | p.R207I | Q9UBM7 | protein_coding | deleterious(0.04) | benign(0.202) | TCGA-A5-A0G2-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | 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 |
1717 | DHCR7 | ENZYME, DRUGGABLE GENOME | cholic acid |
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