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Gene: PITPNM1 |
Gene summary for PITPNM1 |
 Gene summary. |
| Gene information | Species | Human | Gene symbol | PITPNM1 | Gene ID | 9600 |
| Gene name | phosphatidylinositol transfer protein membrane associated 1 | |
| Gene Alias | DRES9 | |
| Cytomap | 11q13.2 | |
| Gene Type | protein-coding | GO ID | GO:0006629 | UniProtAcc | B2R787 |
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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 |
| 9600 | PITPNM1 | C04 | Human | Oral cavity | OSCC | 1.19e-12 | 4.71e-01 | 0.2633 |
| 9600 | PITPNM1 | C21 | Human | Oral cavity | OSCC | 2.59e-18 | 4.60e-01 | 0.2678 |
| 9600 | PITPNM1 | C30 | Human | Oral cavity | OSCC | 2.37e-32 | 1.12e+00 | 0.3055 |
| 9600 | PITPNM1 | C43 | Human | Oral cavity | OSCC | 8.74e-05 | 1.14e-01 | 0.1704 |
| 9600 | PITPNM1 | C46 | Human | Oral cavity | OSCC | 6.71e-05 | 4.56e-02 | 0.1673 |
| 9600 | PITPNM1 | C51 | Human | Oral cavity | OSCC | 7.35e-43 | 1.56e+00 | 0.2674 |
| 9600 | PITPNM1 | C57 | Human | Oral cavity | OSCC | 6.89e-10 | 3.12e-01 | 0.1679 |
| 9600 | PITPNM1 | C07 | Human | Oral cavity | OSCC | 1.43e-04 | 5.04e-01 | 0.2491 |
| 9600 | PITPNM1 | C09 | Human | Oral cavity | OSCC | 2.89e-09 | 1.82e-01 | 0.1431 |
| 9600 | PITPNM1 | LN22 | Human | Oral cavity | OSCC | 1.56e-07 | 6.43e-01 | 0.1733 |
| 9600 | PITPNM1 | LN46 | Human | Oral cavity | OSCC | 3.68e-04 | 1.28e-01 | 0.1666 |
| 9600 | PITPNM1 | LP17 | Human | Oral cavity | LP | 2.07e-04 | 3.93e-01 | 0.2349 |
| 9600 | PITPNM1 | SYSMH1 | Human | Oral cavity | OSCC | 6.83e-04 | 1.86e-01 | 0.1127 |
| 9600 | PITPNM1 | SYSMH2 | Human | Oral cavity | OSCC | 1.28e-07 | 2.46e-01 | 0.2326 |
| 9600 | PITPNM1 | SYSMH3 | Human | Oral cavity | OSCC | 1.16e-13 | 3.00e-01 | 0.2442 |
| 9600 | PITPNM1 | SYSMH5 | Human | Oral cavity | OSCC | 6.33e-04 | 1.42e-01 | 0.0647 |
| 9600 | PITPNM1 | SYSMH6 | Human | Oral cavity | OSCC | 2.72e-02 | 2.91e-02 | 0.1275 |
| 9600 | PITPNM1 | male-WTA | Human | Thyroid | PTC | 5.58e-21 | 2.25e-01 | 0.1037 |
| 9600 | PITPNM1 | PTC04 | Human | Thyroid | PTC | 1.14e-03 | 1.17e-01 | 0.1927 |
| 9600 | PITPNM1 | PTC05 | Human | Thyroid | PTC | 2.03e-04 | 2.47e-01 | 0.2065 |
| Page: 1 2 |
| Transcriptomic changes along malignancy continuum. |
| Tissue | Expression Dynamics | Abbreviation |
| Oral Cavity |  | EOLP: Erosive Oral lichen planus |
| LP: leukoplakia | ||
| NEOLP: Non-erosive oral lichen planus | ||
| OSCC: Oral squamous cell carcinoma | ||
| Thyroid |  | ATC: Anaplastic thyroid cancer |
| HT: Hashimoto's thyroiditis | ||
| PTC: Papillary thyroid cancer |
| ∗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:000931416 | Oral cavity | OSCC | response to radiation | 241/7305 | 456/18723 | 9.76e-10 | 2.40e-08 | 241 |
| GO:00086543 | Oral cavity | OSCC | phospholipid biosynthetic process | 130/7305 | 253/18723 | 3.96e-05 | 3.46e-04 | 130 |
| GO:00094164 | Oral cavity | OSCC | response to light stimulus | 159/7305 | 320/18723 | 5.98e-05 | 4.92e-04 | 159 |
| GO:00464743 | Oral cavity | OSCC | glycerophospholipid biosynthetic process | 102/7305 | 211/18723 | 3.50e-03 | 1.48e-02 | 102 |
| GO:00066445 | Oral cavity | OSCC | phospholipid metabolic process | 175/7305 | 383/18723 | 4.21e-03 | 1.71e-02 | 175 |
| GO:000931417 | Oral cavity | LP | response to radiation | 155/4623 | 456/18723 | 4.12e-06 | 8.49e-05 | 155 |
| GO:0009314111 | Thyroid | PTC | response to radiation | 195/5968 | 456/18723 | 5.10e-07 | 8.27e-06 | 195 |
| GO:00094167 | Thyroid | PTC | response to light stimulus | 127/5968 | 320/18723 | 1.76e-03 | 9.58e-03 | 127 |
| GO:000931426 | Thyroid | ATC | response to radiation | 210/6293 | 456/18723 | 1.69e-08 | 3.39e-07 | 210 |
| GO:000941613 | Thyroid | ATC | response to light stimulus | 139/6293 | 320/18723 | 1.42e-04 | 9.88e-04 | 139 |
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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 |
| PITPNM1 | SNV | Missense_Mutation | c.1933N>G | p.Gln645Glu | p.Q645E | O00562 | protein_coding | tolerated(0.77) | benign(0.093) | TCGA-A2-A0YK-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cytoxan | SD | |
| PITPNM1 | SNV | Missense_Mutation | novel | c.232N>G | p.Pro78Ala | p.P78A | O00562 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-A7-A6VX-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | docetaxel | CR |
| PITPNM1 | SNV | Missense_Mutation | novel | c.2917G>A | p.Glu973Lys | p.E973K | O00562 | protein_coding | deleterious(0.02) | benign(0.082) | TCGA-AC-A3W6-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Unknown | Unknown | SD |
| PITPNM1 | SNV | Missense_Mutation | c.2119N>T | p.Arg707Cys | p.R707C | O00562 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-D8-A146-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD | |
| PITPNM1 | SNV | Missense_Mutation | c.520N>A | p.Asp174Asn | p.D174N | O00562 | protein_coding | deleterious(0) | possibly_damaging(0.555) | TCGA-E2-A14O-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Hormone Therapy | arimidex | SD | |
| PITPNM1 | SNV | Missense_Mutation | c.506N>A | p.Arg169Gln | p.R169Q | O00562 | protein_coding | deleterious(0) | possibly_damaging(0.854) | TCGA-E2-A2P6-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | anastrozole | SD | |
| PITPNM1 | SNV | Missense_Mutation | novel | c.2548N>A | p.Ala850Thr | p.A850T | O00562 | protein_coding | tolerated(0.07) | possibly_damaging(0.767) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
| PITPNM1 | SNV | Missense_Mutation | rs867493357 | c.1000N>T | p.Arg334Cys | p.R334C | O00562 | protein_coding | deleterious(0.01) | probably_damaging(0.999) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
| PITPNM1 | SNV | Missense_Mutation | c.491N>T | p.Ser164Leu | p.S164L | O00562 | protein_coding | deleterious(0.02) | benign(0.027) | TCGA-C5-A902-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | SD | |
| PITPNM1 | SNV | Missense_Mutation | novel | c.3145G>A | p.Val1049Met | p.V1049M | O00562 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-EA-A410-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
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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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