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Gene: NPC1 |
Gene summary for NPC1 |
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Gene information | Species | Human | Gene symbol | NPC1 | Gene ID | 4864 |
Gene name | NPC intracellular cholesterol transporter 1 | |
Gene Alias | NPC | |
Cytomap | 18q11.2 | |
Gene Type | protein-coding | GO ID | GO:0006066 | UniProtAcc | O15118 |
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Malignant transformation analysis |
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Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
4864 | NPC1 | CCI_1 | Human | Cervix | CC | 6.98e-05 | 6.52e-01 | 0.528 |
4864 | NPC1 | CCI_2 | Human | Cervix | CC | 1.74e-04 | 5.18e-01 | 0.5249 |
4864 | NPC1 | CCI_3 | Human | Cervix | CC | 1.15e-12 | 7.60e-01 | 0.516 |
4864 | NPC1 | sample3 | Human | Cervix | CC | 2.50e-04 | 2.11e-01 | 0.1387 |
4864 | NPC1 | T3 | Human | Cervix | CC | 7.78e-03 | 2.15e-01 | 0.1389 |
4864 | NPC1 | LZE4T | Human | Esophagus | ESCC | 1.26e-08 | 1.47e-01 | 0.0811 |
4864 | NPC1 | LZE7T | Human | Esophagus | ESCC | 9.80e-04 | 3.38e-01 | 0.0667 |
4864 | NPC1 | LZE8T | Human | Esophagus | ESCC | 4.49e-02 | 4.33e-02 | 0.067 |
4864 | NPC1 | LZE20T | Human | Esophagus | ESCC | 2.26e-02 | 1.82e-02 | 0.0662 |
4864 | NPC1 | LZE24T | Human | Esophagus | ESCC | 2.22e-03 | 1.87e-01 | 0.0596 |
4864 | NPC1 | LZE6T | Human | Esophagus | ESCC | 4.80e-02 | 1.54e-02 | 0.0845 |
4864 | NPC1 | P1T-E | Human | Esophagus | ESCC | 2.98e-04 | 3.86e-01 | 0.0875 |
4864 | NPC1 | P2T-E | Human | Esophagus | ESCC | 7.76e-08 | 7.03e-02 | 0.1177 |
4864 | NPC1 | P4T-E | Human | Esophagus | ESCC | 2.29e-08 | 2.45e-01 | 0.1323 |
4864 | NPC1 | P5T-E | Human | Esophagus | ESCC | 3.04e-10 | 1.84e-01 | 0.1327 |
4864 | NPC1 | P8T-E | Human | Esophagus | ESCC | 3.97e-13 | 5.97e-02 | 0.0889 |
4864 | NPC1 | P9T-E | Human | Esophagus | ESCC | 6.85e-29 | 4.83e-01 | 0.1131 |
4864 | NPC1 | P10T-E | Human | Esophagus | ESCC | 4.07e-07 | 9.56e-02 | 0.116 |
4864 | NPC1 | P11T-E | Human | Esophagus | ESCC | 8.81e-03 | 1.56e-01 | 0.1426 |
4864 | NPC1 | P12T-E | Human | Esophagus | ESCC | 3.21e-13 | 1.98e-01 | 0.1122 |
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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:001603210 | Cervix | CC | viral process | 109/2311 | 415/18723 | 5.40e-15 | 6.46e-12 | 109 |
GO:001905810 | Cervix | CC | viral life cycle | 87/2311 | 317/18723 | 2.20e-13 | 1.20e-10 | 87 |
GO:005212610 | Cervix | CC | movement in host environment | 52/2311 | 175/18723 | 7.03e-10 | 8.76e-08 | 52 |
GO:004440910 | Cervix | CC | entry into host | 47/2311 | 151/18723 | 8.45e-10 | 1.03e-07 | 47 |
GO:005170110 | Cervix | CC | biological process involved in interaction with host | 57/2311 | 203/18723 | 1.18e-09 | 1.41e-07 | 57 |
GO:004671810 | Cervix | CC | viral entry into host cell | 44/2311 | 144/18723 | 5.47e-09 | 5.03e-07 | 44 |
GO:004440310 | Cervix | CC | biological process involved in symbiotic interaction | 71/2311 | 290/18723 | 7.94e-09 | 6.98e-07 | 71 |
GO:003133010 | Cervix | CC | negative regulation of cellular catabolic process | 63/2311 | 262/18723 | 1.10e-07 | 5.68e-06 | 63 |
GO:004854510 | Cervix | CC | response to steroid hormone | 74/2311 | 339/18723 | 5.71e-07 | 2.09e-05 | 74 |
GO:000989510 | Cervix | CC | negative regulation of catabolic process | 69/2311 | 320/18723 | 2.15e-06 | 6.55e-05 | 69 |
GO:00901509 | Cervix | CC | establishment of protein localization to membrane | 54/2311 | 260/18723 | 7.67e-05 | 1.05e-03 | 54 |
GO:00162367 | Cervix | CC | macroautophagy | 58/2311 | 291/18723 | 1.40e-04 | 1.70e-03 | 58 |
GO:00105067 | Cervix | CC | regulation of autophagy | 61/2311 | 317/18723 | 2.61e-04 | 2.87e-03 | 61 |
GO:00070347 | Cervix | CC | vacuolar transport | 34/2311 | 157/18723 | 7.03e-04 | 6.40e-03 | 34 |
GO:00714042 | Cervix | CC | cellular response to low-density lipoprotein particle stimulus | 9/2311 | 22/18723 | 7.19e-04 | 6.49e-03 | 9 |
GO:001003810 | Cervix | CC | response to metal ion | 67/2311 | 373/18723 | 9.67e-04 | 8.10e-03 | 67 |
GO:00713839 | Cervix | CC | cellular response to steroid hormone stimulus | 40/2311 | 204/18723 | 1.93e-03 | 1.42e-02 | 40 |
GO:00315795 | Cervix | CC | membrane raft organization | 9/2311 | 25/18723 | 2.09e-03 | 1.52e-02 | 9 |
GO:00094109 | Cervix | CC | response to xenobiotic stimulus | 78/2311 | 462/18723 | 2.39e-03 | 1.70e-02 | 78 |
GO:00070416 | Cervix | CC | lysosomal transport | 24/2311 | 114/18723 | 5.81e-03 | 3.33e-02 | 24 |
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Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
hsa0414222 | Esophagus | ESCC | Lysosome | 102/4205 | 132/8465 | 5.11e-11 | 7.13e-10 | 3.65e-10 | 102 |
hsa0414232 | Esophagus | ESCC | Lysosome | 102/4205 | 132/8465 | 5.11e-11 | 7.13e-10 | 3.65e-10 | 102 |
hsa049796 | Liver | NAFLD | Cholesterol metabolism | 20/1043 | 51/8465 | 9.73e-07 | 4.56e-05 | 3.67e-05 | 20 |
hsa0497911 | Liver | NAFLD | Cholesterol metabolism | 20/1043 | 51/8465 | 9.73e-07 | 4.56e-05 | 3.67e-05 | 20 |
hsa041422 | Liver | HCC | Lysosome | 100/4020 | 132/8465 | 2.32e-11 | 4.31e-10 | 2.40e-10 | 100 |
hsa049794 | Liver | HCC | Cholesterol metabolism | 41/4020 | 51/8465 | 1.33e-06 | 1.35e-05 | 7.49e-06 | 41 |
hsa041423 | Liver | HCC | Lysosome | 100/4020 | 132/8465 | 2.32e-11 | 4.31e-10 | 2.40e-10 | 100 |
hsa049795 | Liver | HCC | Cholesterol metabolism | 41/4020 | 51/8465 | 1.33e-06 | 1.35e-05 | 7.49e-06 | 41 |
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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 |
NPC1 | SNV | Missense_Mutation | c.1672G>C | p.Ala558Pro | p.A558P | O15118 | protein_coding | deleterious(0) | probably_damaging(0.946) | TCGA-49-AARE-01 | Lung | lung adenocarcinoma | Female | <65 | I/II | Unknown | Unknown | PD | |
NPC1 | SNV | Missense_Mutation | c.2692N>T | p.Asp898Tyr | p.D898Y | O15118 | protein_coding | deleterious(0) | possibly_damaging(0.786) | TCGA-50-5072-01 | Lung | lung adenocarcinoma | Male | >=65 | III/IV | Chemotherapy | cisplatin | PD | |
NPC1 | SNV | Missense_Mutation | c.2570A>T | p.Asp857Val | p.D857V | O15118 | protein_coding | deleterious(0) | benign(0.007) | TCGA-55-8207-01 | Lung | lung adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD | |
NPC1 | SNV | Missense_Mutation | c.1010N>T | p.Arg337Leu | p.R337L | O15118 | protein_coding | tolerated(0.3) | benign(0) | TCGA-78-7536-01 | Lung | lung adenocarcinoma | Male | >=65 | III/IV | Unknown | Unknown | PD | |
NPC1 | SNV | Missense_Mutation | rs751947520 | c.833N>T | p.Ala278Val | p.A278V | O15118 | protein_coding | tolerated(0.39) | benign(0.003) | TCGA-21-1082-01 | Lung | lung squamous cell carcinoma | Male | <65 | I/II | Unknown | Unknown | SD |
NPC1 | SNV | Missense_Mutation | novel | c.689N>T | p.Ser230Phe | p.S230F | O15118 | protein_coding | deleterious(0.01) | possibly_damaging(0.502) | TCGA-22-1016-01 | Lung | lung squamous cell carcinoma | Male | >=65 | I/II | Unknown | Unknown | SD |
NPC1 | SNV | Missense_Mutation | c.1795N>G | p.Leu599Val | p.L599V | O15118 | protein_coding | tolerated(0.07) | benign(0.248) | TCGA-33-4532-01 | Lung | lung squamous cell carcinoma | Male | >=65 | I/II | Unknown | Unknown | SD | |
NPC1 | SNV | Missense_Mutation | novel | c.699G>T | p.Glu233Asp | p.E233D | O15118 | protein_coding | tolerated(0.74) | benign(0) | TCGA-34-2604-01 | Lung | lung squamous cell carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
NPC1 | SNV | Missense_Mutation | c.3378C>G | p.Ile1126Met | p.I1126M | O15118 | protein_coding | tolerated(0.12) | possibly_damaging(0.744) | TCGA-66-2742-01 | Lung | lung squamous cell carcinoma | Male | >=65 | III/IV | Unknown | Unknown | SD | |
NPC1 | SNV | Missense_Mutation | c.2660N>A | p.Pro887Gln | p.P887Q | O15118 | protein_coding | deleterious(0) | probably_damaging(0.96) | TCGA-66-2754-01 | Lung | lung squamous cell carcinoma | Male | >=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 |
4864 | NPC1 | TRANSPORTER, DRUGGABLE GENOME | SU-4312 | CHEMBL328710 | ||
4864 | NPC1 | TRANSPORTER, DRUGGABLE GENOME | GNF-PF-1872 | CHEMBL600103 | ||
4864 | NPC1 | TRANSPORTER, DRUGGABLE GENOME | DNDI1417701 | CHEMBL1326164 | ||
4864 | NPC1 | TRANSPORTER, DRUGGABLE GENOME | TCMDC-124354 | CHEMBL546344 | ||
4864 | NPC1 | TRANSPORTER, DRUGGABLE GENOME | GNF-PF-3149 | CHEMBL582507 | ||
4864 | NPC1 | TRANSPORTER, DRUGGABLE GENOME | BIOCHANIN | BIOCHANIN | ||
4864 | NPC1 | TRANSPORTER, DRUGGABLE GENOME | 25-HYDROXYCHOLESTEROL | CHEMBL169046 | 23830695 | |
4864 | NPC1 | TRANSPORTER, DRUGGABLE GENOME | TCMDC-125353 | CHEMBL547924 | ||
4864 | NPC1 | TRANSPORTER, DRUGGABLE GENOME | NITAZOXANIDE | NITAZOXANIDE | ||
4864 | NPC1 | TRANSPORTER, DRUGGABLE GENOME | NSC-44661 | CHEMBL571228 |
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