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Gene: PGGHG |
Gene summary for PGGHG |
 Gene summary. |
| Gene information | Species | Human | Gene symbol | PGGHG | Gene ID | 80162 |
| Gene name | protein-glucosylgalactosylhydroxylysine glucosidase | |
| Gene Alias | ATHL1 | |
| Cytomap | 11p15.5 | |
| Gene Type | protein-coding | GO ID | GO:0005975 | UniProtAcc | A0A024R1Z9 |
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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 |
| 80162 | PGGHG | F007 | Human | Colorectum | FAP | 1.51e-03 | 5.27e-01 | 0.1176 |
| 80162 | PGGHG | A001-C-207 | Human | Colorectum | FAP | 6.79e-04 | 4.73e-01 | 0.1278 |
| 80162 | PGGHG | A015-C-203 | Human | Colorectum | FAP | 2.07e-37 | 1.14e+00 | -0.1294 |
| 80162 | PGGHG | A015-C-204 | Human | Colorectum | FAP | 2.71e-26 | 1.10e+00 | -0.0228 |
| 80162 | PGGHG | A014-C-040 | Human | Colorectum | FAP | 2.77e-10 | 1.01e+00 | -0.1184 |
| 80162 | PGGHG | A002-C-201 | Human | Colorectum | FAP | 6.59e-24 | 9.56e-01 | 0.0324 |
| 80162 | PGGHG | A002-C-203 | Human | Colorectum | FAP | 4.32e-26 | 9.28e-01 | 0.2786 |
| 80162 | PGGHG | A001-C-119 | Human | Colorectum | FAP | 6.59e-17 | 9.22e-01 | -0.1557 |
| 80162 | PGGHG | A001-C-108 | Human | Colorectum | FAP | 2.08e-02 | 4.61e-01 | -0.0272 |
| 80162 | PGGHG | A002-C-021 | Human | Colorectum | FAP | 1.04e-09 | 4.68e-01 | 0.1171 |
| 80162 | PGGHG | A002-C-205 | Human | Colorectum | FAP | 7.61e-17 | 8.33e-01 | -0.1236 |
| 80162 | PGGHG | A001-C-104 | Human | Colorectum | FAP | 7.48e-04 | 4.26e-01 | 0.0184 |
| 80162 | PGGHG | A015-C-006 | Human | Colorectum | FAP | 2.45e-18 | 9.72e-01 | -0.0994 |
| 80162 | PGGHG | A015-C-106 | Human | Colorectum | FAP | 1.40e-14 | 7.51e-01 | -0.0511 |
| 80162 | PGGHG | A002-C-114 | Human | Colorectum | FAP | 4.62e-08 | 6.36e-01 | -0.1561 |
| 80162 | PGGHG | A015-C-104 | Human | Colorectum | FAP | 2.80e-40 | 1.13e+00 | -0.1899 |
| 80162 | PGGHG | A015-C-002 | Human | Colorectum | FAP | 1.26e-20 | 1.08e+00 | -0.0763 |
| 80162 | PGGHG | A001-C-007 | Human | Colorectum | CRC | 1.75e-11 | 7.83e-01 | 0.1899 |
| 80162 | PGGHG | A001-C-203 | Human | Colorectum | FAP | 1.91e-05 | 4.74e-01 | -0.0481 |
| 80162 | PGGHG | A002-C-116 | Human | Colorectum | FAP | 1.01e-05 | 3.85e-01 | -0.0452 |
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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 | ||
| Endometrium |  | AEH: Atypical endometrial hyperplasia |
| EEC: Endometrioid Cancer | ||
| 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 |
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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 |
| PGGHG | SNV | Missense_Mutation | c.101G>A | p.Arg34Gln | p.R34Q | Q32M88 | protein_coding | tolerated(0.07) | possibly_damaging(0.805) | TCGA-A2-A0CW-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | anastrozole | SD | |
| PGGHG | SNV | Missense_Mutation | c.108N>A | p.Phe36Leu | p.F36L | Q32M88 | protein_coding | deleterious(0.01) | benign(0.001) | TCGA-BH-A0BT-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | CR | |
| PGGHG | SNV | Missense_Mutation | c.643C>G | p.Leu215Val | p.L215V | Q32M88 | protein_coding | tolerated(0.14) | benign(0.05) | TCGA-D8-A1JP-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | tamoxiphen | SD | |
| PGGHG | SNV | Missense_Mutation | rs777823440 | c.1781N>T | p.Ala594Val | p.A594V | Q32M88 | protein_coding | deleterious(0.05) | possibly_damaging(0.642) | TCGA-LL-A73Z-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | adriamycin | PD |
| PGGHG | deletion | Frame_Shift_Del | rs774965357 | c.508delN | p.Pro172HisfsTer16 | p.P172Hfs*16 | Q32M88 | protein_coding | TCGA-D8-A1XK-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicine+cyclophosphamide | SD | ||
| PGGHG | deletion | Frame_Shift_Del | c.2100delN | p.Glu700AspfsTer66 | p.E700Dfs*66 | Q32M88 | protein_coding | TCGA-EW-A1OZ-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Targeted Molecular therapy | trastuzumab | SD | |||
| PGGHG | SNV | Missense_Mutation | novel | c.464G>A | p.Gly155Glu | p.G155E | Q32M88 | protein_coding | tolerated(0.08) | possibly_damaging(0.814) | TCGA-EA-A3HU-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
| PGGHG | SNV | Missense_Mutation | c.263N>T | p.Ser88Phe | p.S88F | Q32M88 | protein_coding | deleterious(0.03) | benign(0.208) | TCGA-EA-A50E-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | PD | |
| PGGHG | SNV | Missense_Mutation | novel | c.284N>A | p.Gly95Asp | p.G95D | Q32M88 | protein_coding | tolerated(0.06) | benign(0.007) | TCGA-VS-A958-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
| PGGHG | SNV | Missense_Mutation | rs114112322 | c.1817N>C | p.Arg606Pro | p.R606P | Q32M88 | protein_coding | tolerated(0.21) | benign(0.111) | TCGA-VS-A9UY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | PD |
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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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