Tissue | Expression Dynamics | Abbreviation |
Endometrium | ![The image shows the 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.](images/deg_images/Endometrium/GPC6_pca_on_diff_genes.png) | AEH: Atypical endometrial hyperplasia |
EEC: Endometrioid Cancer |
Liver | ![The image shows the 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.](images/deg_images/Liver/GPC6_pca_on_diff_genes.png) | HCC: Hepatocellular carcinoma |
NAFLD: Non-alcoholic fatty liver disease |
Lung | ![The image shows the 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.](images/deg_images/Lung/GPC6_pca_on_diff_genes.png) | AAH: Atypical adenomatous hyperplasia |
AIS: Adenocarcinoma in situ |
IAC: Invasive lung adenocarcinoma |
MIA: Minimally invasive adenocarcinoma |
Skin | ![The image shows the 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.](images/deg_images/Skin/GPC6_pca_on_diff_genes.png) | AK: Actinic keratosis |
cSCC: Cutaneous squamous cell carcinoma |
SCCIS:squamous cell carcinoma in situ |
Thyroid | ![The image shows the 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.](images/deg_images/Thyroid/GPC6_pca_on_diff_genes.png) | ATC: Anaplastic thyroid cancer |
HT: Hashimoto's thyroiditis |
PTC: Papillary thyroid cancer |
GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:00160558 | Endometrium | AEH | Wnt signaling pathway | 85/2100 | 444/18723 | 4.99e-07 | 1.97e-05 | 85 |
GO:01987388 | Endometrium | AEH | cell-cell signaling by wnt | 85/2100 | 446/18723 | 6.07e-07 | 2.29e-05 | 85 |
GO:19907789 | Endometrium | AEH | protein localization to cell periphery | 68/2100 | 333/18723 | 6.38e-07 | 2.38e-05 | 68 |
GO:00343299 | Endometrium | AEH | cell junction assembly | 78/2100 | 420/18723 | 4.80e-06 | 1.24e-04 | 78 |
GO:19018887 | Endometrium | AEH | regulation of cell junction assembly | 39/2100 | 204/18723 | 5.94e-04 | 5.86e-03 | 39 |
GO:19054759 | Endometrium | AEH | regulation of protein localization to membrane | 34/2100 | 175/18723 | 9.62e-04 | 8.75e-03 | 34 |
GO:00508086 | Endometrium | AEH | synapse organization | 67/2100 | 426/18723 | 2.67e-03 | 1.94e-02 | 67 |
GO:19043759 | Endometrium | AEH | regulation of protein localization to cell periphery | 25/2100 | 125/18723 | 2.84e-03 | 2.04e-02 | 25 |
GO:00017385 | Endometrium | AEH | morphogenesis of a polarized epithelium | 20/2100 | 94/18723 | 3.44e-03 | 2.38e-02 | 20 |
GO:00990725 | Endometrium | AEH | regulation of postsynaptic membrane neurotransmitter receptor levels | 14/2100 | 62/18723 | 7.72e-03 | 4.33e-02 | 14 |
GO:001605513 | Endometrium | EEC | Wnt signaling pathway | 90/2168 | 444/18723 | 6.65e-08 | 3.50e-06 | 90 |
GO:019873813 | Endometrium | EEC | cell-cell signaling by wnt | 90/2168 | 446/18723 | 8.25e-08 | 4.23e-06 | 90 |
GO:199077814 | Endometrium | EEC | protein localization to cell periphery | 69/2168 | 333/18723 | 9.71e-07 | 3.31e-05 | 69 |
GO:003432914 | Endometrium | EEC | cell junction assembly | 79/2168 | 420/18723 | 8.37e-06 | 1.85e-04 | 79 |
GO:190547514 | Endometrium | EEC | regulation of protein localization to membrane | 34/2168 | 175/18723 | 1.66e-03 | 1.30e-02 | 34 |
GO:000173812 | Endometrium | EEC | morphogenesis of a polarized epithelium | 21/2168 | 94/18723 | 2.18e-03 | 1.63e-02 | 21 |
GO:190188812 | Endometrium | EEC | regulation of cell junction assembly | 37/2168 | 204/18723 | 3.70e-03 | 2.48e-02 | 37 |
GO:005080812 | Endometrium | EEC | synapse organization | 68/2168 | 426/18723 | 3.73e-03 | 2.49e-02 | 68 |
GO:190437514 | Endometrium | EEC | regulation of protein localization to cell periphery | 25/2168 | 125/18723 | 4.33e-03 | 2.80e-02 | 25 |
GO:00600713 | Endometrium | EEC | Wnt signaling pathway, planar cell polarity pathway | 13/2168 | 52/18723 | 5.34e-03 | 3.31e-02 | 13 |
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 |
GPC6 | SNV | Missense_Mutation | novel | c.989N>A | p.Ser330Asn | p.S330N | Q9Y625 | protein_coding | tolerated(0.11) | probably_damaging(0.944) | TCGA-AP-A1DK-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
GPC6 | SNV | Missense_Mutation | novel | c.1237N>G | p.Thr413Ala | p.T413A | Q9Y625 | protein_coding | tolerated(1) | benign(0.001) | TCGA-AP-A1DV-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
GPC6 | SNV | Missense_Mutation | novel | c.1625N>T | p.Ser542Phe | p.S542F | Q9Y625 | protein_coding | tolerated(0.74) | benign(0.003) | TCGA-AP-A1DV-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
GPC6 | SNV | Missense_Mutation | novel | c.1453T>A | p.Phe485Ile | p.F485I | Q9Y625 | protein_coding | deleterious(0.02) | possibly_damaging(0.898) | TCGA-AP-A1E0-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | paclitaxel | SD |
GPC6 | SNV | Missense_Mutation | | c.1429N>A | p.Ala477Thr | p.A477T | Q9Y625 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-AX-A1CE-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unspecific | Paclitaxel | SD |
GPC6 | SNV | Missense_Mutation | rs192508779 | c.817G>A | p.Val273Ile | p.V273I | Q9Y625 | protein_coding | tolerated(0.1) | possibly_damaging(0.858) | TCGA-AX-A1CP-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
GPC6 | SNV | Missense_Mutation | novel | c.811N>T | p.Leu271Phe | p.L271F | Q9Y625 | protein_coding | tolerated(0.72) | benign(0.111) | TCGA-AX-A2HC-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | paclitaxel | PD |
GPC6 | SNV | Missense_Mutation | novel | c.1094N>T | p.Arg365Met | p.R365M | Q9Y625 | protein_coding | deleterious(0) | possibly_damaging(0.863) | TCGA-B5-A1MX-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Hormone Therapy | megace | SD |
GPC6 | SNV | Missense_Mutation | rs756656699 | c.640N>A | p.Ala214Thr | p.A214T | Q9Y625 | protein_coding | tolerated(0.09) | possibly_damaging(0.694) | TCGA-B5-A3FA-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
GPC6 | SNV | Missense_Mutation | novel | c.1630N>G | p.Thr544Ala | p.T544A | Q9Y625 | protein_coding | tolerated(0.57) | benign(0.001) | TCGA-B5-A3FA-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |