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Gene: NPC1L1 |
Gene summary for NPC1L1 |
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Gene information | Species | Human | Gene symbol | NPC1L1 | Gene ID | 29881 |
Gene name | NPC1 like intracellular cholesterol transporter 1 | |
Gene Alias | LDLCQ7 | |
Cytomap | 7p13 | |
Gene Type | protein-coding | GO ID | GO:0003008 | UniProtAcc | A0A0C4DFX6 |
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Malignant transformation analysis |
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Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
29881 | NPC1L1 | S43 | Human | Liver | Cirrhotic | 3.36e-03 | 3.14e-02 | -0.0187 |
29881 | NPC1L1 | HCC1_Meng | Human | Liver | HCC | 4.51e-35 | 5.22e-02 | 0.0246 |
29881 | NPC1L1 | HCC2_Meng | Human | Liver | HCC | 1.04e-15 | 1.44e-01 | 0.0107 |
29881 | NPC1L1 | Pt13.a | Human | Liver | HCC | 9.68e-04 | -8.95e-02 | 0.021 |
29881 | NPC1L1 | Pt14.d | Human | Liver | HCC | 4.57e-04 | -8.53e-02 | 0.0143 |
29881 | NPC1L1 | S027 | Human | Liver | HCC | 2.63e-10 | 1.03e+00 | 0.2446 |
29881 | NPC1L1 | S028 | Human | Liver | HCC | 1.56e-20 | 8.42e-01 | 0.2503 |
29881 | NPC1L1 | S029 | Human | Liver | HCC | 1.26e-23 | 1.12e+00 | 0.2581 |
29881 | NPC1L1 | Pat01-B | Human | Stomach | GC | 9.51e-22 | 4.54e-01 | 0.5754 |
29881 | NPC1L1 | Pat02-B | Human | Stomach | GC | 3.76e-03 | 7.78e-02 | 0.0368 |
29881 | NPC1L1 | Pat03-B | Human | Stomach | GC | 2.33e-09 | 2.33e-01 | 0.3693 |
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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:000820211 | Liver | Cirrhotic | steroid metabolic process | 143/4634 | 319/18723 | 2.79e-15 | 3.18e-13 | 143 |
GO:19026521 | Liver | Cirrhotic | secondary alcohol metabolic process | 75/4634 | 147/18723 | 5.62e-12 | 3.91e-10 | 75 |
GO:00082031 | Liver | Cirrhotic | cholesterol metabolic process | 70/4634 | 137/18723 | 2.59e-11 | 1.55e-09 | 70 |
GO:00161251 | Liver | Cirrhotic | sterol metabolic process | 75/4634 | 152/18723 | 4.54e-11 | 2.61e-09 | 75 |
GO:000606612 | Liver | Cirrhotic | alcohol metabolic process | 141/4634 | 353/18723 | 1.57e-10 | 8.03e-09 | 141 |
GO:00066941 | Liver | Cirrhotic | steroid biosynthetic process | 77/4634 | 173/18723 | 1.02e-08 | 3.91e-07 | 77 |
GO:0016126 | Liver | Cirrhotic | sterol biosynthetic process | 37/4634 | 64/18723 | 1.74e-08 | 6.32e-07 | 37 |
GO:0006695 | Liver | Cirrhotic | cholesterol biosynthetic process | 34/4634 | 57/18723 | 2.22e-08 | 7.77e-07 | 34 |
GO:1902653 | Liver | Cirrhotic | secondary alcohol biosynthetic process | 34/4634 | 57/18723 | 2.22e-08 | 7.77e-07 | 34 |
GO:001087611 | Liver | Cirrhotic | lipid localization | 147/4634 | 448/18723 | 6.24e-05 | 7.12e-04 | 147 |
GO:0046165 | Liver | Cirrhotic | alcohol biosynthetic process | 55/4634 | 140/18723 | 9.74e-05 | 1.03e-03 | 55 |
GO:0042157 | Liver | Cirrhotic | lipoprotein metabolic process | 53/4634 | 135/18723 | 1.32e-04 | 1.29e-03 | 53 |
GO:000686911 | Liver | Cirrhotic | lipid transport | 128/4634 | 398/18723 | 4.54e-04 | 3.69e-03 | 128 |
GO:19016171 | Liver | Cirrhotic | organic hydroxy compound biosynthetic process | 81/4634 | 237/18723 | 6.73e-04 | 5.06e-03 | 81 |
GO:001591811 | Liver | Cirrhotic | sterol transport | 48/4634 | 130/18723 | 1.32e-03 | 8.83e-03 | 48 |
GO:003030111 | Liver | Cirrhotic | cholesterol transport | 44/4634 | 117/18723 | 1.34e-03 | 8.98e-03 | 44 |
GO:00715013 | Liver | Cirrhotic | cellular response to sterol depletion | 10/4634 | 16/18723 | 1.51e-03 | 9.91e-03 | 10 |
GO:00069912 | Liver | Cirrhotic | response to sterol depletion | 10/4634 | 18/18723 | 5.00e-03 | 2.59e-02 | 10 |
GO:000606621 | Liver | HCC | alcohol metabolic process | 208/7958 | 353/18723 | 2.80e-10 | 9.50e-09 | 208 |
GO:19026522 | Liver | HCC | secondary alcohol metabolic process | 100/7958 | 147/18723 | 3.26e-10 | 1.09e-08 | 100 |
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Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
hsa04975 | Stomach | GC | Fat digestion and absorption | 14/708 | 43/8465 | 5.71e-06 | 8.30e-05 | 5.84e-05 | 14 |
hsa049751 | Stomach | GC | Fat digestion and absorption | 14/708 | 43/8465 | 5.71e-06 | 8.30e-05 | 5.84e-05 | 14 |
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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 |
NPC1L1 | SNV | Missense_Mutation | novel | c.878C>T | p.Ser293Phe | p.S293F | Q9UHC9 | protein_coding | tolerated(0.7) | benign(0.291) | TCGA-DS-A1OB-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | carboplatin | PD |
NPC1L1 | SNV | Missense_Mutation | c.3902C>A | p.Ala1301Glu | p.A1301E | Q9UHC9 | protein_coding | deleterious(0.01) | benign(0.062) | TCGA-FU-A57G-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD | |
NPC1L1 | SNV | Missense_Mutation | c.3614N>T | p.Ser1205Phe | p.S1205F | Q9UHC9 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-IR-A3LH-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR | |
NPC1L1 | SNV | Missense_Mutation | rs756628304 | c.2737N>A | p.Glu913Lys | p.E913K | Q9UHC9 | protein_coding | tolerated(0.9) | benign(0.014) | TCGA-IR-A3LI-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
NPC1L1 | insertion | Frame_Shift_Ins | novel | c.515_516insGGCCCTGACA | p.Cys172TrpfsTer70 | p.C172Wfs*70 | Q9UHC9 | protein_coding | TCGA-DS-A1OB-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | carboplatin | PD | ||
NPC1L1 | SNV | Missense_Mutation | rs145729189 | c.3802C>T | p.Arg1268Cys | p.R1268C | Q9UHC9 | protein_coding | deleterious(0) | probably_damaging(0.984) | TCGA-A6-5665-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
NPC1L1 | SNV | Missense_Mutation | rs765299082 | c.2177N>A | p.Arg726Gln | p.R726Q | Q9UHC9 | protein_coding | deleterious(0.04) | probably_damaging(0.979) | TCGA-AA-3510-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD |
NPC1L1 | SNV | Missense_Mutation | c.1845N>A | p.Phe615Leu | p.F615L | Q9UHC9 | protein_coding | deleterious(0) | benign(0.387) | TCGA-AA-3510-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD | |
NPC1L1 | SNV | Missense_Mutation | c.1741G>A | p.Ala581Thr | p.A581T | Q9UHC9 | protein_coding | tolerated(0.58) | benign(0.01) | TCGA-AA-3710-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
NPC1L1 | SNV | Missense_Mutation | rs200584876 | c.1085C>T | p.Pro362Leu | p.P362L | Q9UHC9 | protein_coding | tolerated(0.23) | benign(0) | TCGA-AA-3710-01 | Colorectum | colon adenocarcinoma | 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 |
29881 | NPC1L1 | DRUGGABLE GENOME, TRANSPORTER | EZETIMIBE | EZETIMIBE | ||
29881 | NPC1L1 | DRUGGABLE GENOME, TRANSPORTER | pravastatin | PRAVASTATIN | 19752398 | |
29881 | NPC1L1 | DRUGGABLE GENOME, TRANSPORTER | EMZETIBE | |||
29881 | NPC1L1 | DRUGGABLE GENOME, TRANSPORTER | antagonist | 178103422 | EZETIMIBE | |
29881 | NPC1L1 | DRUGGABLE GENOME, TRANSPORTER | Ezetimibe | EZETIMIBE | ||
29881 | NPC1L1 | DRUGGABLE GENOME, TRANSPORTER | inhibitor | CHEMBL1138 | EZETIMIBE | |
29881 | NPC1L1 | DRUGGABLE GENOME, TRANSPORTER | EZETIMIBE | EZETIMIBE |
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