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Gene: PLEKHB1 |
Gene summary for PLEKHB1 |
 Gene summary. |
| Gene information | Species | Human | Gene symbol | PLEKHB1 | Gene ID | 58473 |
| Gene name | pleckstrin homology domain containing B1 | |
| Gene Alias | KPL1 | |
| Cytomap | 11q13.4 | |
| Gene Type | protein-coding | GO ID | GO:0007154 | UniProtAcc | A0A024R5J2 |
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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 |
| 58473 | PLEKHB1 | HTA11_696_2000001011 | Human | Colorectum | AD | 3.76e-11 | 4.03e-01 | -0.1464 |
| 58473 | PLEKHB1 | HTA11_1391_2000001011 | Human | Colorectum | AD | 3.71e-04 | 2.40e-01 | -0.059 |
| 58473 | PLEKHB1 | HTA11_866_3004761011 | Human | Colorectum | AD | 1.31e-15 | 4.57e-01 | 0.096 |
| 58473 | PLEKHB1 | HTA11_4255_2000001011 | Human | Colorectum | SER | 4.95e-02 | 3.47e-01 | 0.0446 |
| 58473 | PLEKHB1 | HTA11_8622_2000001021 | Human | Colorectum | SER | 4.03e-02 | 3.68e-01 | 0.0528 |
| 58473 | PLEKHB1 | HTA11_7696_3000711011 | Human | Colorectum | AD | 2.31e-02 | 1.79e-01 | 0.0674 |
| 58473 | PLEKHB1 | HTA11_6818_2000001021 | Human | Colorectum | AD | 1.88e-07 | 4.13e-01 | 0.0588 |
| 58473 | PLEKHB1 | HTA11_99999970781_79442 | Human | Colorectum | MSS | 1.42e-31 | 7.56e-01 | 0.294 |
| 58473 | PLEKHB1 | HTA11_99999965062_69753 | Human | Colorectum | MSI-H | 3.69e-14 | 1.59e+00 | 0.3487 |
| 58473 | PLEKHB1 | HTA11_99999965104_69814 | Human | Colorectum | MSS | 7.20e-04 | 2.08e-01 | 0.281 |
| 58473 | PLEKHB1 | HTA11_99999971662_82457 | Human | Colorectum | MSS | 3.34e-25 | 6.21e-01 | 0.3859 |
| 58473 | PLEKHB1 | HTA11_99999973899_84307 | Human | Colorectum | MSS | 2.33e-04 | 3.19e-01 | 0.2585 |
| 58473 | PLEKHB1 | HTA11_99999974143_84620 | Human | Colorectum | MSS | 7.66e-16 | 4.24e-01 | 0.3005 |
| 58473 | PLEKHB1 | P8T-E | Human | Esophagus | ESCC | 3.75e-03 | 1.95e-02 | 0.0889 |
| 58473 | PLEKHB1 | P11T-E | Human | Esophagus | ESCC | 2.84e-04 | 5.57e-01 | 0.1426 |
| 58473 | PLEKHB1 | P16T-E | Human | Esophagus | ESCC | 3.46e-09 | 2.13e-01 | 0.1153 |
| 58473 | PLEKHB1 | P19T-E | Human | Esophagus | ESCC | 1.48e-02 | 7.72e-01 | 0.1662 |
| 58473 | PLEKHB1 | P21T-E | Human | Esophagus | ESCC | 2.44e-03 | 4.45e-02 | 0.1617 |
| 58473 | PLEKHB1 | P24T-E | Human | Esophagus | ESCC | 1.17e-04 | 1.20e-01 | 0.1287 |
| 58473 | PLEKHB1 | P26T-E | Human | Esophagus | ESCC | 3.90e-03 | -1.73e-02 | 0.1276 |
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| Transcriptomic changes along malignancy continuum. |
| Tissue | Expression Dynamics | Abbreviation |
| 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 | ||
| 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 |
| ∗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:000931419 | Esophagus | ESCC | response to radiation | 277/8552 | 456/18723 | 4.42e-11 | 1.43e-09 | 277 |
| GO:000941611 | Esophagus | ESCC | response to light stimulus | 183/8552 | 320/18723 | 2.03e-05 | 1.76e-04 | 183 |
| GO:00093146 | Liver | HCC | response to radiation | 223/7958 | 456/18723 | 3.08e-03 | 1.43e-02 | 223 |
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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 |
| PLEKHB1 | SNV | Missense_Mutation | c.17C>G | p.Pro6Arg | p.P6R | Q9UF11 | protein_coding | deleterious_low_confidence(0.04) | probably_damaging(0.997) | TCGA-A8-A07R-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Ancillary | zoledronic | SD | |
| PLEKHB1 | SNV | Missense_Mutation | c.499N>T | p.Arg167Cys | p.R167C | Q9UF11 | protein_coding | tolerated(0.16) | benign(0.071) | TCGA-A6-5665-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | PD | |
| PLEKHB1 | SNV | Missense_Mutation | rs754703598 | c.458N>A | p.Arg153His | p.R153H | Q9UF11 | protein_coding | tolerated(0.07) | benign(0) | TCGA-AA-3821-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
| PLEKHB1 | SNV | Missense_Mutation | novel | c.605N>C | p.Val202Ala | p.V202A | Q9UF11 | protein_coding | tolerated(0.63) | possibly_damaging(0.848) | TCGA-AA-3845-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
| PLEKHB1 | SNV | Missense_Mutation | rs781576387 | c.409G>A | p.Val137Ile | p.V137I | Q9UF11 | protein_coding | tolerated(0.26) | benign(0) | TCGA-AA-3977-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD |
| PLEKHB1 | insertion | Frame_Shift_Ins | rs747647640 | c.537_538insC | p.Asn182GlnfsTer102 | p.N182Qfs*102 | Q9UF11 | protein_coding | TCGA-CK-5916-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | PD | ||
| PLEKHB1 | SNV | Missense_Mutation | rs781576387 | c.409N>A | p.Val137Ile | p.V137I | Q9UF11 | protein_coding | tolerated(0.26) | benign(0) | TCGA-A5-A0G2-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
| PLEKHB1 | SNV | Missense_Mutation | rs545480416 | c.110N>A | p.Arg37His | p.R37H | Q9UF11 | protein_coding | deleterious(0.02) | probably_damaging(0.99) | TCGA-AJ-A3EK-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Chemotherapy | carboplatin | CR |
| PLEKHB1 | SNV | Missense_Mutation | rs191182155 | c.428G>A | p.Arg143Gln | p.R143Q | Q9UF11 | protein_coding | tolerated(0.33) | benign(0.025) | TCGA-AP-A0LM-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | cisplatin | SD |
| PLEKHB1 | SNV | Missense_Mutation | rs766212784 | c.449N>A | p.Cys150Tyr | p.C150Y | Q9UF11 | protein_coding | tolerated(1) | benign(0.141) | TCGA-B5-A1MX-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Hormone Therapy | megace | 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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