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Gene: PPFIBP1 |
Gene summary for PPFIBP1 |
Gene summary. |
Gene information | Species | Human | Gene symbol | PPFIBP1 | Gene ID | 8496 |
Gene name | PPFIA binding protein 1 | |
Gene Alias | L2 | |
Cytomap | 12p11.23-p11.22 | |
Gene Type | protein-coding | GO ID | GO:0007155 | UniProtAcc | A0A024RB02 |
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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 |
8496 | PPFIBP1 | CA_HPV_3 | Human | Cervix | CC | 8.13e-08 | 2.30e-01 | 0.0414 |
8496 | PPFIBP1 | CCI_1 | Human | Cervix | CC | 1.29e-05 | 1.23e+00 | 0.528 |
8496 | PPFIBP1 | CCI_2 | Human | Cervix | CC | 1.18e-07 | 1.21e+00 | 0.5249 |
8496 | PPFIBP1 | CCI_3 | Human | Cervix | CC | 1.91e-27 | 1.93e+00 | 0.516 |
8496 | PPFIBP1 | AEH-subject1 | Human | Endometrium | AEH | 1.06e-29 | 6.63e-01 | -0.3059 |
8496 | PPFIBP1 | AEH-subject2 | Human | Endometrium | AEH | 4.53e-12 | 4.67e-01 | -0.2525 |
8496 | PPFIBP1 | AEH-subject3 | Human | Endometrium | AEH | 4.35e-05 | 2.66e-01 | -0.2576 |
8496 | PPFIBP1 | AEH-subject5 | Human | Endometrium | AEH | 2.20e-27 | 7.47e-01 | -0.2953 |
8496 | PPFIBP1 | EEC-subject1 | Human | Endometrium | EEC | 1.87e-11 | 4.39e-01 | -0.2682 |
8496 | PPFIBP1 | EEC-subject2 | Human | Endometrium | EEC | 6.21e-23 | 6.23e-01 | -0.2607 |
8496 | PPFIBP1 | EEC-subject3 | Human | Endometrium | EEC | 1.57e-08 | 2.85e-01 | -0.2525 |
8496 | PPFIBP1 | EEC-subject4 | Human | Endometrium | EEC | 2.88e-05 | 3.36e-01 | -0.2571 |
8496 | PPFIBP1 | EEC-subject5 | Human | Endometrium | EEC | 3.34e-08 | 3.41e-01 | -0.249 |
8496 | PPFIBP1 | GSM5276935 | Human | Endometrium | EEC | 7.51e-10 | 3.56e-01 | -0.123 |
8496 | PPFIBP1 | GSM6177620_NYU_UCEC1_lib1_lib1 | Human | Endometrium | EEC | 2.65e-06 | 6.18e-02 | -0.1869 |
8496 | PPFIBP1 | GSM6177620_NYU_UCEC1_lib2_lib2 | Human | Endometrium | EEC | 3.39e-06 | 3.53e-03 | -0.1875 |
8496 | PPFIBP1 | GSM6177620_NYU_UCEC1_lib3_lib3 | Human | Endometrium | EEC | 2.08e-10 | 6.04e-02 | -0.1883 |
8496 | PPFIBP1 | GSM6177621_NYU_UCEC2_lib1_lib1 | Human | Endometrium | EEC | 1.93e-03 | -4.34e-02 | -0.1934 |
8496 | PPFIBP1 | GSM6177622_NYU_UCEC3_lib1_lib1 | Human | Endometrium | EEC | 4.51e-07 | 1.02e-02 | -0.1917 |
8496 | PPFIBP1 | GSM6177622_NYU_UCEC3_lib2_lib2 | Human | Endometrium | EEC | 5.02e-11 | 5.75e-02 | -0.1916 |
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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:00508086 | Endometrium | AEH | synapse organization | 67/2100 | 426/18723 | 2.67e-03 | 1.94e-02 | 67 |
GO:005080812 | Endometrium | EEC | synapse organization | 68/2168 | 426/18723 | 3.73e-03 | 2.49e-02 | 68 |
GO:00508087 | Prostate | BPH | synapse organization | 103/3107 | 426/18723 | 3.19e-05 | 3.61e-04 | 103 |
GO:005080813 | Prostate | Tumor | synapse organization | 105/3246 | 426/18723 | 7.20e-05 | 7.62e-04 | 105 |
GO:00508088 | Skin | AK | synapse organization | 71/1910 | 426/18723 | 2.21e-05 | 4.07e-04 | 71 |
GO:00508089 | Thyroid | PTC | synapse organization | 161/5968 | 426/18723 | 5.11e-03 | 2.36e-02 | 161 |
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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 |
PPFIBP1 | SNV | Missense_Mutation | novel | c.2449N>G | p.Arg817Gly | p.R817G | Q86W92 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-A2-A0D0-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cytoxan | SD |
PPFIBP1 | SNV | Missense_Mutation | c.2739N>C | p.Leu913Phe | p.L913F | Q86W92 | protein_coding | deleterious(0) | probably_damaging(0.98) | TCGA-AC-A23H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD | |
PPFIBP1 | SNV | Missense_Mutation | rs539499516 | c.2536N>A | p.Val846Ile | p.V846I | Q86W92 | protein_coding | deleterious(0.04) | probably_damaging(0.996) | TCGA-AC-A2QH-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cytoxan | CR |
PPFIBP1 | SNV | Missense_Mutation | novel | c.2089N>T | p.His697Tyr | p.H697Y | Q86W92 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
PPFIBP1 | SNV | Missense_Mutation | c.2326A>G | p.Ile776Val | p.I776V | Q86W92 | protein_coding | deleterious(0) | probably_damaging(0.996) | TCGA-AO-A128-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | SD | |
PPFIBP1 | SNV | Missense_Mutation | novel | c.1531N>G | p.Met511Val | p.M511V | Q86W92 | protein_coding | tolerated(0.54) | benign(0) | TCGA-BH-A1FC-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
PPFIBP1 | SNV | Missense_Mutation | c.1421N>T | p.Thr474Ile | p.T474I | Q86W92 | protein_coding | tolerated(0.23) | benign(0) | TCGA-C8-A1HM-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | doxorubicin | CR | |
PPFIBP1 | SNV | Missense_Mutation | c.1790N>C | p.Arg597Thr | p.R597T | Q86W92 | protein_coding | deleterious(0.01) | benign(0.334) | TCGA-EW-A1P0-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | arimidex | PD | |
PPFIBP1 | insertion | In_Frame_Ins | novel | c.2823_2824insGTGTGTTCCCATAGAATACCATCGCCCCATCAGAAG | p.Gly941_Phe942insValCysSerHisArgIleProSerProHisGlnLys | p.G941_F942insVCSHRIPSPHQK | Q86W92 | protein_coding | TCGA-A8-A0A6-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | epirubicin | CR | ||
PPFIBP1 | SNV | Missense_Mutation | c.154N>T | p.Val52Leu | p.V52L | Q86W92 | protein_coding | tolerated(1) | benign(0.005) | TCGA-C5-A905-01 | 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 |
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