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Gene: PPHLN1 |
Gene summary for PPHLN1 |
Gene summary. |
Gene information | Species | Human | Gene symbol | PPHLN1 | Gene ID | 51535 |
Gene name | periphilin 1 | |
Gene Alias | CR | |
Cytomap | 12q12 | |
Gene Type | protein-coding | GO ID | GO:0006139 | UniProtAcc | Q8NEY8 |
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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 |
51535 | PPHLN1 | CCI_2 | Human | Cervix | CC | 1.32e-06 | 6.88e-01 | 0.5249 |
51535 | PPHLN1 | CCI_3 | Human | Cervix | CC | 1.05e-04 | 5.55e-01 | 0.516 |
51535 | PPHLN1 | HTA11_3410_2000001011 | Human | Colorectum | AD | 2.93e-12 | -5.04e-01 | 0.0155 |
51535 | PPHLN1 | HTA11_696_2000001011 | Human | Colorectum | AD | 3.31e-02 | -2.28e-01 | -0.1464 |
51535 | PPHLN1 | HTA11_5216_2000001011 | Human | Colorectum | SER | 4.82e-02 | -6.15e-01 | -0.1462 |
51535 | PPHLN1 | HTA11_7696_3000711011 | Human | Colorectum | AD | 1.58e-02 | -2.56e-01 | 0.0674 |
51535 | PPHLN1 | HTA11_99999974143_84620 | Human | Colorectum | MSS | 3.85e-06 | -3.42e-01 | 0.3005 |
51535 | PPHLN1 | F007 | Human | Colorectum | FAP | 2.55e-02 | -2.33e-01 | 0.1176 |
51535 | PPHLN1 | A001-C-207 | Human | Colorectum | FAP | 2.04e-04 | -3.31e-01 | 0.1278 |
51535 | PPHLN1 | A015-C-203 | Human | Colorectum | FAP | 1.14e-29 | -4.20e-01 | -0.1294 |
51535 | PPHLN1 | A015-C-204 | Human | Colorectum | FAP | 8.21e-06 | -3.55e-01 | -0.0228 |
51535 | PPHLN1 | A014-C-040 | Human | Colorectum | FAP | 1.25e-05 | -5.37e-01 | -0.1184 |
51535 | PPHLN1 | A002-C-201 | Human | Colorectum | FAP | 1.08e-14 | -3.78e-01 | 0.0324 |
51535 | PPHLN1 | A002-C-203 | Human | Colorectum | FAP | 3.85e-06 | -1.32e-01 | 0.2786 |
51535 | PPHLN1 | A001-C-119 | Human | Colorectum | FAP | 1.59e-09 | -4.59e-01 | -0.1557 |
51535 | PPHLN1 | A001-C-108 | Human | Colorectum | FAP | 1.27e-19 | -3.30e-01 | -0.0272 |
51535 | PPHLN1 | A002-C-205 | Human | Colorectum | FAP | 3.78e-21 | -4.81e-01 | -0.1236 |
51535 | PPHLN1 | A001-C-104 | Human | Colorectum | FAP | 1.50e-04 | -2.22e-01 | 0.0184 |
51535 | PPHLN1 | A015-C-005 | Human | Colorectum | FAP | 3.76e-04 | -2.42e-01 | -0.0336 |
51535 | PPHLN1 | A015-C-006 | Human | Colorectum | FAP | 6.37e-12 | -2.91e-01 | -0.0994 |
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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. |
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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). |
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Enriched GO biological processes. |
GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:00085446 | Cervix | CC | epidermis development | 83/2311 | 324/18723 | 3.91e-11 | 8.54e-09 | 83 |
GO:00435884 | Cervix | CC | skin development | 71/2311 | 263/18723 | 8.04e-11 | 1.46e-08 | 71 |
GO:00302164 | Cervix | CC | keratinocyte differentiation | 42/2311 | 139/18723 | 1.74e-08 | 1.28e-06 | 42 |
GO:00099137 | Cervix | CC | epidermal cell differentiation | 53/2311 | 202/18723 | 5.48e-08 | 3.25e-06 | 53 |
GO:00063257 | Cervix | CC | chromatin organization | 78/2311 | 409/18723 | 5.40e-05 | 8.02e-04 | 78 |
GO:2001252 | Colorectum | AD | positive regulation of chromosome organization | 35/3918 | 82/18723 | 6.90e-06 | 1.72e-04 | 35 |
GO:0006325 | Colorectum | AD | chromatin organization | 119/3918 | 409/18723 | 4.85e-05 | 8.33e-04 | 119 |
GO:0033044 | Colorectum | AD | regulation of chromosome organization | 60/3918 | 187/18723 | 2.25e-04 | 2.94e-03 | 60 |
GO:0009913 | Colorectum | AD | epidermal cell differentiation | 58/3918 | 202/18723 | 5.16e-03 | 3.42e-02 | 58 |
GO:0008544 | Colorectum | AD | epidermis development | 87/3918 | 324/18723 | 5.99e-03 | 3.76e-02 | 87 |
GO:20012521 | Colorectum | SER | positive regulation of chromosome organization | 27/2897 | 82/18723 | 6.44e-05 | 1.49e-03 | 27 |
GO:00063251 | Colorectum | SER | chromatin organization | 89/2897 | 409/18723 | 4.15e-04 | 6.17e-03 | 89 |
GO:20012522 | Colorectum | MSS | positive regulation of chromosome organization | 33/3467 | 82/18723 | 3.72e-06 | 1.07e-04 | 33 |
GO:00063252 | Colorectum | MSS | chromatin organization | 107/3467 | 409/18723 | 7.22e-05 | 1.21e-03 | 107 |
GO:00330441 | Colorectum | MSS | regulation of chromosome organization | 55/3467 | 187/18723 | 1.86e-04 | 2.63e-03 | 55 |
GO:00099131 | Colorectum | MSS | epidermal cell differentiation | 52/3467 | 202/18723 | 6.59e-03 | 4.38e-02 | 52 |
GO:20012524 | Colorectum | FAP | positive regulation of chromosome organization | 26/2622 | 82/18723 | 3.21e-05 | 7.20e-04 | 26 |
GO:00330442 | Colorectum | FAP | regulation of chromosome organization | 46/2622 | 187/18723 | 7.41e-05 | 1.36e-03 | 46 |
GO:00063253 | Colorectum | FAP | chromatin organization | 84/2622 | 409/18723 | 1.62e-04 | 2.47e-03 | 84 |
GO:0043588 | Colorectum | FAP | skin development | 58/2622 | 263/18723 | 2.44e-04 | 3.39e-03 | 58 |
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Enriched KEGG pathways. |
Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
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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 |
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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. |
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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 |
PPHLN1 | SNV | Missense_Mutation | c.638N>A | p.Ser213Tyr | p.S213Y | Q8NEY8 | protein_coding | tolerated(0.62) | benign(0.154) | TCGA-A8-A094-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
PPHLN1 | SNV | Missense_Mutation | c.1021N>C | p.Ile341Leu | p.I341L | Q8NEY8 | protein_coding | tolerated(0.09) | possibly_damaging(0.705) | TCGA-BH-A0BV-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | doxorubicin | SD | |
PPHLN1 | SNV | Missense_Mutation | c.784C>A | p.Pro262Thr | p.P262T | Q8NEY8 | protein_coding | deleterious(0) | possibly_damaging(0.577) | TCGA-C8-A26Y-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
PPHLN1 | SNV | Missense_Mutation | novel | c.191G>T | p.Gly64Val | p.G64V | Q8NEY8 | protein_coding | deleterious(0) | probably_damaging(0.973) | TCGA-C5-A2LT-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | SD |
PPHLN1 | SNV | Missense_Mutation | rs144485658 | c.520N>T | p.Arg174Cys | p.R174C | Q8NEY8 | protein_coding | tolerated(0.06) | possibly_damaging(0.759) | TCGA-AA-3833-01 | Colorectum | colon adenocarcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
PPHLN1 | SNV | Missense_Mutation | novel | c.807N>T | p.Glu269Asp | p.E269D | Q8NEY8 | protein_coding | deleterious(0.04) | benign(0.401) | TCGA-AA-3950-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
PPHLN1 | SNV | Missense_Mutation | c.1003A>G | p.Arg335Gly | p.R335G | Q8NEY8 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-AA-A02R-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | PD | |
PPHLN1 | SNV | Missense_Mutation | c.602C>T | p.Ser201Leu | p.S201L | Q8NEY8 | protein_coding | deleterious(0.01) | possibly_damaging(0.724) | TCGA-NH-A50U-01 | Colorectum | colon adenocarcinoma | Male | <65 | I/II | Ancillary | leucovorin | PD | |
PPHLN1 | SNV | Missense_Mutation | rs553311483 | c.1139C>T | p.Pro380Leu | p.P380L | Q8NEY8 | protein_coding | tolerated_low_confidence(0.1) | benign(0.001) | TCGA-NH-A5IV-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
PPHLN1 | SNV | Missense_Mutation | c.19N>C | p.Tyr7His | p.Y7H | Q8NEY8 | protein_coding | tolerated(0.16) | probably_damaging(0.996) | TCGA-EI-6507-01 | Colorectum | rectum adenocarcinoma | Male | <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 |
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