Tissue | Expression Dynamics | Abbreviation |
Esophagus | ![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/Esophagus/GPM6B_pca_on_diff_genes.png) | ESCC: Esophageal squamous cell carcinoma |
HGIN: High-grade intraepithelial neoplasias |
LGIN: Low-grade intraepithelial neoplasias |
Oral Cavity | ![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/OralCavity/GPM6B_pca_on_diff_genes.png) | EOLP: Erosive Oral lichen planus |
LP: leukoplakia |
NEOLP: Non-erosive oral lichen planus |
OSCC: Oral squamous cell carcinoma |
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/GPM6B_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:0150115110 | Esophagus | ESCC | cell-substrate junction organization | 77/8552 | 101/18723 | 3.46e-10 | 9.57e-09 | 77 |
GO:000704418 | Esophagus | ESCC | cell-substrate junction assembly | 73/8552 | 95/18723 | 5.27e-10 | 1.35e-08 | 73 |
GO:003158919 | Esophagus | ESCC | cell-substrate adhesion | 221/8552 | 363/18723 | 3.06e-09 | 6.62e-08 | 221 |
GO:001081020 | Esophagus | ESCC | regulation of cell-substrate adhesion | 144/8552 | 221/18723 | 3.55e-09 | 7.45e-08 | 144 |
GO:004804116 | Esophagus | ESCC | focal adhesion assembly | 65/8552 | 87/18723 | 3.28e-08 | 6.08e-07 | 65 |
GO:0032970111 | Esophagus | ESCC | regulation of actin filament-based process | 231/8552 | 397/18723 | 2.91e-07 | 4.20e-06 | 231 |
GO:0032956111 | Esophagus | ESCC | regulation of actin cytoskeleton organization | 210/8552 | 358/18723 | 4.40e-07 | 6.00e-06 | 210 |
GO:000195217 | Esophagus | ESCC | regulation of cell-matrix adhesion | 85/8552 | 128/18723 | 1.70e-06 | 2.02e-05 | 85 |
GO:000150317 | Esophagus | ESCC | ossification | 232/8552 | 408/18723 | 3.00e-06 | 3.40e-05 | 232 |
GO:000716018 | Esophagus | ESCC | cell-matrix adhesion | 141/8552 | 233/18723 | 3.33e-06 | 3.71e-05 | 141 |
GO:015011619 | Esophagus | ESCC | regulation of cell-substrate junction organization | 51/8552 | 71/18723 | 6.99e-06 | 7.04e-05 | 51 |
GO:19038289 | Esophagus | ESCC | negative regulation of cellular protein localization | 76/8552 | 117/18723 | 1.97e-05 | 1.72e-04 | 76 |
GO:005189318 | Esophagus | ESCC | regulation of focal adhesion assembly | 47/8552 | 66/18723 | 2.31e-05 | 1.98e-04 | 47 |
GO:009010918 | Esophagus | ESCC | regulation of cell-substrate junction assembly | 47/8552 | 66/18723 | 2.31e-05 | 1.98e-04 | 47 |
GO:00301984 | Esophagus | ESCC | extracellular matrix organization | 171/8552 | 301/18723 | 6.08e-05 | 4.67e-04 | 171 |
GO:00430624 | Esophagus | ESCC | extracellular structure organization | 171/8552 | 302/18723 | 7.73e-05 | 5.76e-04 | 171 |
GO:00452294 | Esophagus | ESCC | external encapsulating structure organization | 172/8552 | 304/18723 | 7.80e-05 | 5.80e-04 | 172 |
GO:003432918 | Esophagus | ESCC | cell junction assembly | 227/8552 | 420/18723 | 3.06e-04 | 1.83e-03 | 227 |
GO:00850292 | Esophagus | ESCC | extracellular matrix assembly | 29/8552 | 45/18723 | 8.63e-03 | 3.04e-02 | 29 |
GO:190188810 | Esophagus | ESCC | regulation of cell junction assembly | 109/8552 | 204/18723 | 1.53e-02 | 4.96e-02 | 109 |
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 |
GPM6B | SNV | Missense_Mutation | novel | c.724N>A | p.Gly242Arg | p.G242R | Q13491 | protein_coding | tolerated(0.06) | probably_damaging(1) | TCGA-A2-A3Y0-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | CR |
GPM6B | SNV | Missense_Mutation | | c.31N>C | p.Glu11Gln | p.E11Q | Q13491 | protein_coding | deleterious_low_confidence(0.05) | benign(0.1) | TCGA-C8-A138-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
GPM6B | SNV | Missense_Mutation | | c.5N>G | p.Lys2Arg | p.K2R | Q13491 | protein_coding | deleterious_low_confidence(0.03) | probably_damaging(0.98) | TCGA-EW-A1IZ-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | taxotere | SD |
GPM6B | SNV | Missense_Mutation | | c.499N>A | p.Ala167Thr | p.A167T | Q13491 | protein_coding | tolerated(0.72) | benign(0.241) | TCGA-LD-A74U-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Chemotherapy | taxotere | SD |
GPM6B | SNV | Missense_Mutation | novel | c.615G>T | p.Trp205Cys | p.W205C | Q13491 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-PL-A8LV-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
GPM6B | SNV | Missense_Mutation | rs776965626 | c.307N>A | p.Val103Met | p.V103M | Q13491 | protein_coding | tolerated(0.25) | benign(0.075) | TCGA-LP-A7HU-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
GPM6B | SNV | Missense_Mutation | | c.412N>C | p.Phe138Leu | p.F138L | Q13491 | protein_coding | deleterious(0) | probably_damaging(0.927) | TCGA-F4-6703-01 | Colorectum | colon adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | SD |
GPM6B | SNV | Missense_Mutation | novel | c.838N>T | p.Ile280Phe | p.I280F | Q13491 | protein_coding | tolerated(0.19) | benign(0.015) | TCGA-A5-A7WJ-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
GPM6B | SNV | Missense_Mutation | rs745969304 | c.364N>A | p.Glu122Lys | p.E122K | Q13491 | protein_coding | tolerated(0.37) | benign(0.052) | TCGA-AJ-A3BH-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | Unknown | I/II | Unknown | Unknown | SD |
GPM6B | SNV | Missense_Mutation | novel | c.479N>C | p.His160Pro | p.H160P | Q13491 | protein_coding | tolerated(0.07) | probably_damaging(0.95) | TCGA-AJ-A3EL-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |