Tissue | Expression Dynamics | Abbreviation |
Cervix | ![The image shows the transcriptomic changes along malignancy continuum.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.](images/deg_images/Cervix/NPC1_pca_on_diff_genes.png) | CC: Cervix cancer |
HSIL_HPV: HPV-infected high-grade squamous intraepithelial lesions |
N_HPV: HPV-infected normal cervix |
Esophagus | ![The image shows the transcriptomic changes along malignancy continuum.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.](images/deg_images/Esophagus/NPC1_pca_on_diff_genes.png) | ESCC: Esophageal squamous cell carcinoma |
HGIN: High-grade intraepithelial neoplasias |
LGIN: Low-grade intraepithelial neoplasias |
Liver | ![The image shows the transcriptomic changes along malignancy continuum.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.](images/deg_images/Liver/NPC1_pca_on_diff_genes.png) | HCC: Hepatocellular carcinoma |
NAFLD: Non-alcoholic fatty liver disease |
Lung | ![The image shows the transcriptomic changes along malignancy continuum.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.](images/deg_images/Lung/NPC1_pca_on_diff_genes.png) | AAH: Atypical adenomatous hyperplasia |
AIS: Adenocarcinoma in situ |
IAC: Invasive lung adenocarcinoma |
MIA: Minimally invasive adenocarcinoma |
Prostate | ![The image shows the transcriptomic changes along malignancy continuum.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.](images/deg_images/Prostate/NPC1_pca_on_diff_genes.png) | BPH: Benign Prostatic Hyperplasia |
Thyroid | ![The image shows the transcriptomic changes along malignancy continuum.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.](images/deg_images/Thyroid/NPC1_pca_on_diff_genes.png) | ATC: Anaplastic thyroid cancer |
HT: Hashimoto's thyroiditis |
PTC: Papillary thyroid cancer |
GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:001624115 | Thyroid | ATC | regulation of macroautophagy | 86/6293 | 141/18723 | 2.35e-11 | 8.24e-10 | 86 |
GO:005170134 | Thyroid | ATC | biological process involved in interaction with host | 112/6293 | 203/18723 | 1.93e-10 | 5.76e-09 | 112 |
GO:003133035 | Thyroid | ATC | negative regulation of cellular catabolic process | 136/6293 | 262/18723 | 6.47e-10 | 1.71e-08 | 136 |
GO:0048545210 | Thyroid | ATC | response to steroid hormone | 168/6293 | 339/18723 | 7.21e-10 | 1.88e-08 | 168 |
GO:000989529 | Thyroid | ATC | negative regulation of catabolic process | 159/6293 | 320/18723 | 1.61e-09 | 3.99e-08 | 159 |
GO:000703423 | Thyroid | ATC | vacuolar transport | 89/6293 | 157/18723 | 2.26e-09 | 5.40e-08 | 89 |
GO:005212633 | Thyroid | ATC | movement in host environment | 94/6293 | 175/18723 | 3.20e-08 | 6.00e-07 | 94 |
GO:007138328 | Thyroid | ATC | cellular response to steroid hormone stimulus | 103/6293 | 204/18723 | 4.32e-07 | 6.30e-06 | 103 |
GO:000704116 | Thyroid | ATC | lysosomal transport | 63/6293 | 114/18723 | 1.58e-06 | 1.93e-05 | 63 |
GO:0010038210 | Thyroid | ATC | response to metal ion | 165/6293 | 373/18723 | 1.07e-05 | 1.05e-04 | 165 |
GO:004440933 | Thyroid | ATC | entry into host | 76/6293 | 151/18723 | 1.54e-05 | 1.43e-04 | 76 |
GO:004671833 | Thyroid | ATC | viral entry into host cell | 72/6293 | 144/18723 | 3.38e-05 | 2.80e-04 | 72 |
GO:001050713 | Thyroid | ATC | negative regulation of autophagy | 44/6293 | 85/18723 | 4.13e-04 | 2.49e-03 | 44 |
GO:004668632 | Thyroid | ATC | response to cadmium ion | 35/6293 | 68/18723 | 1.76e-03 | 8.71e-03 | 35 |
GO:001624212 | Thyroid | ATC | negative regulation of macroautophagy | 20/6293 | 34/18723 | 2.22e-03 | 1.04e-02 | 20 |
GO:000941027 | Thyroid | ATC | response to xenobiotic stimulus | 184/6293 | 462/18723 | 2.70e-03 | 1.23e-02 | 184 |
GO:003236611 | Thyroid | ATC | intracellular sterol transport | 17/6293 | 29/18723 | 4.95e-03 | 2.03e-02 | 17 |
GO:003236711 | Thyroid | ATC | intracellular cholesterol transport | 17/6293 | 29/18723 | 4.95e-03 | 2.03e-02 | 17 |
GO:000648612 | Thyroid | ATC | protein glycosylation | 94/6293 | 226/18723 | 7.11e-03 | 2.82e-02 | 94 |
GO:004341312 | Thyroid | ATC | macromolecule glycosylation | 94/6293 | 226/18723 | 7.11e-03 | 2.82e-02 | 94 |
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 | novel | c.2941N>T | p.Pro981Ser | p.P981S | O15118 | protein_coding | tolerated(0.5) | benign(0) | TCGA-A2-A0CP-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cytoxan | SD |
NPC1 | SNV | Missense_Mutation | rs758362397 | c.2429T>G | p.Val810Gly | p.V810G | O15118 | protein_coding | tolerated(0.4) | benign(0) | TCGA-A2-A0CQ-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | SD |
NPC1 | SNV | Missense_Mutation | novel | c.1030N>G | p.Ser344Ala | p.S344A | O15118 | protein_coding | tolerated(0.43) | benign(0) | TCGA-A2-A0CS-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Hormone Therapy | anastrozole | SD |
NPC1 | SNV | Missense_Mutation | rs748862167 | c.3493N>A | p.Val1165Met | p.V1165M | O15118 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-A2-A0YD-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cytoxan | SD |
NPC1 | SNV | Missense_Mutation | | c.2918N>T | p.Asp973Val | p.D973V | O15118 | protein_coding | deleterious(0.02) | benign(0.01) | TCGA-A8-A0AD-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | tamoxiphen | SD |
NPC1 | SNV | Missense_Mutation | | c.1756G>C | p.Glu586Gln | p.E586Q | O15118 | protein_coding | tolerated(0.15) | benign(0.042) | TCGA-AN-A0XW-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
NPC1 | SNV | Missense_Mutation | novel | c.1030N>G | p.Ser344Ala | p.S344A | O15118 | protein_coding | tolerated(0.43) | benign(0) | TCGA-B6-A0IA-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
NPC1 | SNV | Missense_Mutation | novel | c.1030N>G | p.Ser344Ala | p.S344A | O15118 | protein_coding | tolerated(0.43) | benign(0) | TCGA-BH-A0BR-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
NPC1 | SNV | Missense_Mutation | novel | c.1030N>G | p.Ser344Ala | p.S344A | O15118 | protein_coding | tolerated(0.43) | benign(0) | TCGA-BH-A0HO-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cyclophosphamide | SD |
NPC1 | SNV | Missense_Mutation | novel | c.271N>G | p.Leu91Val | p.L91V | O15118 | protein_coding | tolerated(0.49) | benign(0) | TCGA-BH-A2L8-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cytoxan | CR |
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 | |