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 | rs758758232 | c.329G>A | p.Arg110Gln | p.R110Q | Q9Y625 | protein_coding | tolerated(0.52) | benign(0.041) | TCGA-A5-A2K5-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
GPC6 | SNV | Missense_Mutation | novel | c.691G>A | p.Val231Ile | p.V231I | Q9Y625 | protein_coding | tolerated(0.07) | possibly_damaging(0.874) | TCGA-AJ-A2QO-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
GPC6 | SNV | Missense_Mutation | rs764440422 | c.1403N>A | p.Arg468His | p.R468H | Q9Y625 | protein_coding | deleterious(0) | probably_damaging(0.984) | TCGA-AJ-A3EK-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Chemotherapy | carboplatin | CR |
GPC6 | SNV | Missense_Mutation | rs763498314 | c.886N>A | p.Leu296Ile | p.L296I | Q9Y625 | protein_coding | tolerated(0.24) | benign(0.196) | TCGA-AJ-A3EL-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
GPC6 | SNV | Missense_Mutation | | c.637N>T | p.Arg213Cys | p.R213C | Q9Y625 | protein_coding | deleterious(0) | probably_damaging(0.985) | TCGA-AJ-A3OK-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Chemotherapy | carboplatin | CR |
GPC6 | SNV | Missense_Mutation | novel | c.848A>G | p.Asp283Gly | p.D283G | Q9Y625 | protein_coding | deleterious(0.01) | possibly_damaging(0.819) | TCGA-AJ-A8CT-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
GPC6 | SNV | Missense_Mutation | rs774820740 | c.902G>A | p.Arg301Gln | p.R301Q | Q9Y625 | protein_coding | deleterious(0.01) | probably_damaging(0.938) | TCGA-AP-A056-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
GPC6 | SNV | Missense_Mutation | | c.839N>G | p.Asn280Ser | p.N280S | Q9Y625 | protein_coding | deleterious(0.01) | possibly_damaging(0.629) | TCGA-AP-A059-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
GPC6 | SNV | Missense_Mutation | | c.996N>T | p.Gln332His | p.Q332H | Q9Y625 | protein_coding | tolerated(0.14) | benign(0.053) | TCGA-AP-A0LM-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | cisplatin | SD |
GPC6 | SNV | Missense_Mutation | rs752721445 | c.374N>C | p.Val125Ala | p.V125A | Q9Y625 | protein_coding | tolerated(0.33) | benign(0.055) | TCGA-AP-A1DK-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |