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/CELSR2_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/CELSR2_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/CELSR2_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:001605517 | Esophagus | ESCC | Wnt signaling pathway | 268/8552 | 444/18723 | 2.32e-10 | 6.58e-09 | 268 |
GO:019873817 | Esophagus | ESCC | cell-cell signaling by wnt | 269/8552 | 446/18723 | 2.41e-10 | 6.79e-09 | 269 |
GO:00017387 | Esophagus | ESCC | morphogenesis of a polarized epithelium | 63/8552 | 94/18723 | 2.34e-05 | 2.00e-04 | 63 |
GO:00600714 | Esophagus | ESCC | Wnt signaling pathway, planar cell polarity pathway | 36/8552 | 52/18723 | 5.05e-04 | 2.79e-03 | 36 |
GO:002240720 | Esophagus | ESCC | regulation of cell-cell adhesion | 239/8552 | 448/18723 | 5.88e-04 | 3.19e-03 | 239 |
GO:00901753 | Esophagus | ESCC | regulation of establishment of planar polarity | 37/8552 | 56/18723 | 1.65e-03 | 7.65e-03 | 37 |
GO:00017361 | Esophagus | ESCC | establishment of planar polarity | 45/8552 | 72/18723 | 2.97e-03 | 1.24e-02 | 45 |
GO:00071641 | Esophagus | ESCC | establishment of tissue polarity | 45/8552 | 72/18723 | 2.97e-03 | 1.24e-02 | 45 |
GO:00355671 | Esophagus | ESCC | non-canonical Wnt signaling pathway | 45/8552 | 72/18723 | 2.97e-03 | 1.24e-02 | 45 |
GO:20000274 | Esophagus | ESCC | regulation of animal organ morphogenesis | 71/8552 | 125/18723 | 7.97e-03 | 2.84e-02 | 71 |
GO:001635816 | Esophagus | ESCC | dendrite development | 130/8552 | 243/18723 | 8.33e-03 | 2.95e-02 | 130 |
GO:001605510 | Oral cavity | OSCC | Wnt signaling pathway | 227/7305 | 444/18723 | 1.10e-07 | 1.87e-06 | 227 |
GO:019873810 | Oral cavity | OSCC | cell-cell signaling by wnt | 227/7305 | 446/18723 | 1.75e-07 | 2.86e-06 | 227 |
GO:002240718 | Oral cavity | OSCC | regulation of cell-cell adhesion | 218/7305 | 448/18723 | 1.71e-05 | 1.68e-04 | 218 |
GO:005087819 | Oral cavity | OSCC | regulation of body fluid levels | 179/7305 | 379/18723 | 6.19e-04 | 3.50e-03 | 179 |
GO:0021591 | Oral cavity | OSCC | ventricular system development | 18/7305 | 29/18723 | 1.00e-02 | 3.49e-02 | 18 |
GO:001635810 | Oral cavity | OSCC | dendrite development | 113/7305 | 243/18723 | 1.00e-02 | 3.49e-02 | 113 |
GO:001605515 | Oral cavity | LP | Wnt signaling pathway | 140/4623 | 444/18723 | 5.80e-04 | 5.35e-03 | 140 |
GO:019873815 | Oral cavity | LP | cell-cell signaling by wnt | 140/4623 | 446/18723 | 7.12e-04 | 6.38e-03 | 140 |
GO:0016055110 | Thyroid | PTC | Wnt signaling pathway | 217/5968 | 444/18723 | 3.71e-14 | 2.30e-12 | 217 |
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 |
CELSR2 | SNV | Missense_Mutation | novel | c.8248G>A | p.Glu2750Lys | p.E2750K | Q9HCU4 | protein_coding | tolerated_low_confidence(0.17) | benign(0) | TCGA-A2-A0T0-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | taxotere | SD |
CELSR2 | SNV | Missense_Mutation | | c.1400N>T | p.Thr467Ile | p.T467I | Q9HCU4 | protein_coding | tolerated(0.2) | benign(0.003) | TCGA-A2-A0YJ-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | cytoxan | PD |
CELSR2 | SNV | Missense_Mutation | | c.4428G>C | p.Glu1476Asp | p.E1476D | Q9HCU4 | protein_coding | tolerated(0.69) | benign(0.012) | TCGA-AC-A23H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
CELSR2 | SNV | Missense_Mutation | novel | c.5233N>T | p.Gly1745Cys | p.G1745C | Q9HCU4 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-BH-A0BF-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
CELSR2 | SNV | Missense_Mutation | | c.4276N>T | p.Val1426Phe | p.V1426F | Q9HCU4 | protein_coding | deleterious(0) | possibly_damaging(0.903) | TCGA-D8-A147-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicine | SD |
CELSR2 | SNV | Missense_Mutation | | c.2203A>G | p.Ser735Gly | p.S735G | Q9HCU4 | protein_coding | deleterious(0.03) | probably_damaging(0.955) | TCGA-D8-A1XQ-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
CELSR2 | SNV | Missense_Mutation | rs774715293 | c.511N>T | p.Arg171Trp | p.R171W | Q9HCU4 | protein_coding | tolerated(0.19) | benign(0.001) | TCGA-E2-A1IN-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | arimidex | SD |
CELSR2 | SNV | Missense_Mutation | | c.7660N>C | p.Glu2554Gln | p.E2554Q | Q9HCU4 | protein_coding | tolerated(0.07) | probably_damaging(0.984) | TCGA-EW-A1J5-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | SD |
CELSR2 | SNV | Missense_Mutation | | c.7984N>C | p.Ser2662Pro | p.S2662P | Q9HCU4 | protein_coding | deleterious(0.01) | probably_damaging(0.998) | TCGA-EW-A1P5-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | anastrozole | SD |
CELSR2 | SNV | Missense_Mutation | novel | c.2020G>C | p.Asp674His | p.D674H | Q9HCU4 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-PE-A5DE-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | taxotere | CR |