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Gene: PITPNC1 |
Gene summary for PITPNC1 |
 Gene summary. |
| Gene information | Species | Human | Gene symbol | PITPNC1 | Gene ID | 26207 |
| Gene name | phosphatidylinositol transfer protein cytoplasmic 1 | |
| Gene Alias | M-RDGB-beta | |
| Cytomap | 17q24.2 | |
| Gene Type | protein-coding | GO ID | GO:0006810 | UniProtAcc | Q9UKF7 |
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Malignant transformation analysis |
| Identification of the aberrant gene expression in precancerous and cancerous lesions by comparing the gene expression of stem-like cells in diseased tissues with normal stem cells |
| Malignant transformation involving gene list. |
| Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
| 26207 | PITPNC1 | CCI_1 | Human | Cervix | CC | 7.42e-04 | 3.52e-01 | 0.528 |
| 26207 | PITPNC1 | CCI_2 | Human | Cervix | CC | 1.89e-03 | 5.76e-01 | 0.5249 |
| 26207 | PITPNC1 | CCI_3 | Human | Cervix | CC | 2.36e-08 | 7.04e-01 | 0.516 |
| 26207 | PITPNC1 | CCII_1 | Human | Cervix | CC | 3.32e-08 | 3.58e-01 | 0.3249 |
| 26207 | PITPNC1 | HTA11_1938_2000001011 | Human | Colorectum | AD | 2.79e-04 | 5.55e-01 | -0.0811 |
| 26207 | PITPNC1 | HTA11_411_2000001011 | Human | Colorectum | SER | 2.95e-05 | 1.28e+00 | -0.2602 |
| 26207 | PITPNC1 | HTA11_1391_2000001011 | Human | Colorectum | AD | 2.14e-05 | 8.73e-01 | -0.059 |
| 26207 | PITPNC1 | HTA11_99999965104_69814 | Human | Colorectum | MSS | 3.16e-03 | 4.91e-01 | 0.281 |
| 26207 | PITPNC1 | HTA11_99999974143_84620 | Human | Colorectum | MSS | 4.10e-06 | -3.47e-01 | 0.3005 |
| 26207 | PITPNC1 | A015-C-203 | Human | Colorectum | FAP | 5.78e-13 | -2.33e-01 | -0.1294 |
| 26207 | PITPNC1 | A002-C-201 | Human | Colorectum | FAP | 2.79e-02 | -4.45e-03 | 0.0324 |
| 26207 | PITPNC1 | A001-C-119 | Human | Colorectum | FAP | 7.78e-05 | 4.26e-01 | -0.1557 |
| 26207 | PITPNC1 | A001-C-108 | Human | Colorectum | FAP | 6.55e-04 | 2.36e-02 | -0.0272 |
| 26207 | PITPNC1 | A002-C-021 | Human | Colorectum | FAP | 2.19e-05 | 3.88e-01 | 0.1171 |
| 26207 | PITPNC1 | A002-C-205 | Human | Colorectum | FAP | 4.68e-08 | -1.22e-01 | -0.1236 |
| 26207 | PITPNC1 | A015-C-006 | Human | Colorectum | FAP | 3.17e-06 | -3.51e-01 | -0.0994 |
| 26207 | PITPNC1 | A015-C-106 | Human | Colorectum | FAP | 3.18e-03 | -6.51e-02 | -0.0511 |
| 26207 | PITPNC1 | A002-C-114 | Human | Colorectum | FAP | 5.03e-06 | -1.43e-01 | -0.1561 |
| 26207 | PITPNC1 | A015-C-104 | Human | Colorectum | FAP | 1.11e-14 | -1.36e-01 | -0.1899 |
| 26207 | PITPNC1 | A001-C-014 | Human | Colorectum | FAP | 1.66e-03 | 3.96e-02 | 0.0135 |
| Page: 1 2 3 4 5 6 7 |
| Transcriptomic changes along malignancy continuum. |
| Tissue | Expression Dynamics | Abbreviation |
| Cervix |  | CC: Cervix cancer |
| HSIL_HPV: HPV-infected high-grade squamous intraepithelial lesions | ||
| N_HPV: HPV-infected normal cervix | ||
| Colorectum (GSE201348) |  | FAP: Familial adenomatous polyposis |
| CRC: Colorectal cancer | ||
| Colorectum (HTA11) |  | AD: Adenomas |
| SER: Sessile serrated lesions | ||
| MSI-H: Microsatellite-high colorectal cancer | ||
| MSS: Microsatellite stable colorectal cancer | ||
| Endometrium |  | AEH: Atypical endometrial hyperplasia |
| EEC: Endometrioid Cancer | ||
| Esophagus |  | ESCC: Esophageal squamous cell carcinoma |
| HGIN: High-grade intraepithelial neoplasias | ||
| LGIN: Low-grade intraepithelial neoplasias | ||
| Liver |  | HCC: Hepatocellular carcinoma |
| NAFLD: Non-alcoholic fatty liver disease | ||
| Oral Cavity |  | EOLP: Erosive Oral lichen planus |
| LP: leukoplakia | ||
| NEOLP: Non-erosive oral lichen planus | ||
| OSCC: Oral squamous cell carcinoma | ||
| Prostate |  | BPH: Benign Prostatic Hyperplasia |
| ∗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 |
| Find out the enriched GO biological processes and KEGG pathways involved in transition from healthy to precancer to cancer |
| Figure of enriched GO biological processes. |
| 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). |
| Page: 1 2 3 4 5 6 7 8 9 |
| Enriched GO biological processes. |
| GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
| GO:0010876 | Colorectum | AD | lipid localization | 120/3918 | 448/18723 | 1.59e-03 | 1.33e-02 | 120 |
| GO:0006869 | Colorectum | AD | lipid transport | 108/3918 | 398/18723 | 1.67e-03 | 1.39e-02 | 108 |
| GO:0015748 | Colorectum | AD | organophosphate ester transport | 42/3918 | 140/18723 | 7.04e-03 | 4.31e-02 | 42 |
| GO:00108761 | Colorectum | MSS | lipid localization | 104/3467 | 448/18723 | 6.76e-03 | 4.38e-02 | 104 |
| GO:00068691 | Colorectum | FAP | lipid transport | 81/2622 | 398/18723 | 2.84e-04 | 3.76e-03 | 81 |
| GO:00108762 | Colorectum | FAP | lipid localization | 85/2622 | 448/18723 | 1.92e-03 | 1.63e-02 | 85 |
| GO:0015914 | Colorectum | FAP | phospholipid transport | 23/2622 | 96/18723 | 6.09e-03 | 3.82e-02 | 23 |
| GO:00068692 | Colorectum | CRC | lipid transport | 63/2078 | 398/18723 | 2.36e-03 | 2.26e-02 | 63 |
| GO:00108763 | Colorectum | CRC | lipid localization | 68/2078 | 448/18723 | 4.60e-03 | 3.58e-02 | 68 |
| GO:001087611 | Liver | Cirrhotic | lipid localization | 147/4634 | 448/18723 | 6.24e-05 | 7.12e-04 | 147 |
| GO:000686911 | Liver | Cirrhotic | lipid transport | 128/4634 | 398/18723 | 4.54e-04 | 3.69e-03 | 128 |
| GO:01200091 | Liver | Cirrhotic | intermembrane lipid transfer | 21/4634 | 48/18723 | 3.06e-03 | 1.73e-02 | 21 |
| GO:001087621 | Liver | HCC | lipid localization | 228/7958 | 448/18723 | 1.80e-04 | 1.41e-03 | 228 |
| GO:01200092 | Liver | HCC | intermembrane lipid transfer | 33/7958 | 48/18723 | 2.12e-04 | 1.63e-03 | 33 |
| GO:000686921 | Liver | HCC | lipid transport | 198/7958 | 398/18723 | 1.92e-03 | 9.78e-03 | 198 |
| GO:00157483 | Oral cavity | EOLP | organophosphate ester transport | 28/2218 | 140/18723 | 3.66e-03 | 2.05e-02 | 28 |
| GO:001574811 | Oral cavity | NEOLP | organophosphate ester transport | 25/2005 | 140/18723 | 7.16e-03 | 3.63e-02 | 25 |
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| Enriched KEGG pathways. |
| Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
| Page: 1 |
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Cell-cell communication analysis |
| Identification of potential cell-cell interactions between two cell types and their ligand-receptor pairs for different disease states |
| Ligand | Receptor | LRpair | Pathway | Tissue | Disease Stage |
| Page: 1 |
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Single-cell gene regulatory network inference analysis |
| Find out the significant the regulons (TFs) and the target genes of each regulon across cell types for different disease states |
| 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. |
| Page: 1 |
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Somatic mutation of malignant transformation related genes |
| Annotation of somatic variants for genes involved in malignant transformation |
| 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 |
| PITPNC1 | SNV | Missense_Mutation | c.994N>C | p.Glu332Gln | p.E332Q | Q9UKF7 | protein_coding | deleterious_low_confidence(0) | benign(0.086) | TCGA-AC-A23H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD | |
| PITPNC1 | SNV | Missense_Mutation | c.548N>T | p.Ser183Phe | p.S183F | Q9UKF7 | protein_coding | deleterious(0) | probably_damaging(0.967) | TCGA-BH-A0H5-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cytoxan | CR | |
| PITPNC1 | SNV | Missense_Mutation | c.868N>A | p.Val290Ile | p.V290I | Q9UKF7 | protein_coding | tolerated(0.05) | benign(0.075) | TCGA-E9-A1N3-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Chemotherapy | 5-fluorouracil | CR | |
| PITPNC1 | insertion | In_Frame_Ins | novel | c.746_747insGGA | p.Ile249delinsMetAsp | p.I249delinsMD | Q9UKF7 | protein_coding | TCGA-A2-A3XZ-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | carboplatin | CR | ||
| PITPNC1 | insertion | Nonsense_Mutation | novel | c.747_748insCCACCACAGTGAAAAAGCCTG | p.Ile249_Gly250insProProGlnTerLysSerLeu | p.I249_G250insPPQ*KSL | Q9UKF7 | protein_coding | TCGA-A2-A3XZ-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | carboplatin | CR | ||
| PITPNC1 | SNV | Missense_Mutation | c.670G>A | p.Asp224Asn | p.D224N | Q9UKF7 | protein_coding | deleterious(0.04) | probably_damaging(1) | TCGA-IR-A3LK-01 | Cervix | cervical & endocervical cancer | Female | >=65 | I/II | Chemotherapy | cisplatin | PD | |
| PITPNC1 | SNV | Missense_Mutation | rs751106529 | c.704N>A | p.Arg235Gln | p.R235Q | Q9UKF7 | protein_coding | deleterious(0) | probably_damaging(0.953) | TCGA-A6-5665-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
| PITPNC1 | SNV | Missense_Mutation | c.443N>A | p.Arg148His | p.R148H | Q9UKF7 | protein_coding | tolerated(0.21) | benign(0.066) | TCGA-AA-3672-01 | Colorectum | colon adenocarcinoma | Female | >=65 | III/IV | Unknown | Unknown | SD | |
| PITPNC1 | SNV | Missense_Mutation | c.743A>G | p.Lys248Arg | p.K248R | Q9UKF7 | protein_coding | tolerated(0.08) | possibly_damaging(0.801) | TCGA-AA-A004-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD | |
| PITPNC1 | SNV | Missense_Mutation | c.344A>G | p.Asp115Gly | p.D115G | Q9UKF7 | protein_coding | tolerated(0.05) | possibly_damaging(0.879) | TCGA-AA-A010-01 | Colorectum | colon adenocarcinoma | Female | <65 | I/II | Chemotherapy | folinic | CR |
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Related drugs of malignant transformation related genes |
| Identification of chemicals and drugs interact with genes involved in malignant transfromation |
| (DGIdb 4.0) |
| Entrez ID | Symbol | Category | Interaction Types | Drug Claim Name | Drug Name | PMIDs |
| Page: 1 |
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