Tissue | Expression Dynamics | Abbreviation |
Breast | ![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/Breast/CELSR1_pca_on_diff_genes.png) | IDC: Invasive ductal carcinoma |
DCIS: Ductal carcinoma in situ |
Precancer(BRCA1-mut): Precancerous lesion from BRCA1 mutation carriers |
Cervix | ![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/Cervix/CELSR1_pca_on_diff_genes.png) | CC: Cervix cancer |
HSIL_HPV: HPV-infected high-grade squamous intraepithelial lesions |
N_HPV: HPV-infected normal cervix |
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/CELSR1_pca_on_diff_genes.png) | AEH: Atypical endometrial hyperplasia |
EEC: Endometrioid Cancer |
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/CELSR1_pca_on_diff_genes.png) | ESCC: Esophageal squamous cell carcinoma |
HGIN: High-grade intraepithelial neoplasias |
LGIN: Low-grade intraepithelial neoplasias |
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/CELSR1_pca_on_diff_genes.png) | AAH: Atypical adenomatous hyperplasia |
AIS: Adenocarcinoma in situ |
IAC: Invasive lung adenocarcinoma |
MIA: Minimally invasive adenocarcinoma |
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/CELSR1_pca_on_diff_genes.png) | EOLP: Erosive Oral lichen planus |
LP: leukoplakia |
NEOLP: Non-erosive oral lichen planus |
OSCC: Oral squamous cell carcinoma |
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/CELSR1_pca_on_diff_genes.png) | AK: Actinic keratosis |
cSCC: Cutaneous squamous cell carcinoma |
SCCIS:squamous cell carcinoma in situ |
GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:006054112 | Endometrium | EEC | respiratory system development | 36/2168 | 203/18723 | 6.02e-03 | 3.57e-02 | 36 |
GO:003032414 | Endometrium | EEC | lung development | 32/2168 | 177/18723 | 6.93e-03 | 3.98e-02 | 32 |
GO:20000273 | Endometrium | EEC | regulation of animal organ morphogenesis | 24/2168 | 125/18723 | 8.60e-03 | 4.70e-02 | 24 |
GO:003297027 | Esophagus | HGIN | regulation of actin filament-based process | 77/2587 | 397/18723 | 1.14e-03 | 1.39e-02 | 77 |
GO:001605516 | Esophagus | HGIN | Wnt signaling pathway | 83/2587 | 444/18723 | 2.27e-03 | 2.33e-02 | 83 |
GO:003295627 | Esophagus | HGIN | regulation of actin cytoskeleton organization | 69/2587 | 358/18723 | 2.35e-03 | 2.39e-02 | 69 |
GO:019873816 | Esophagus | HGIN | cell-cell signaling by wnt | 83/2587 | 446/18723 | 2.58e-03 | 2.55e-02 | 83 |
GO:00018438 | Esophagus | HGIN | neural tube closure | 22/2587 | 88/18723 | 3.57e-03 | 3.27e-02 | 22 |
GO:00018389 | Esophagus | HGIN | embryonic epithelial tube formation | 28/2587 | 121/18723 | 3.72e-03 | 3.39e-02 | 28 |
GO:00140209 | Esophagus | HGIN | primary neural tube formation | 23/2587 | 94/18723 | 3.92e-03 | 3.54e-02 | 23 |
GO:00606067 | Esophagus | HGIN | tube closure | 22/2587 | 89/18723 | 4.14e-03 | 3.70e-02 | 22 |
GO:000184114 | Esophagus | HGIN | neural tube formation | 24/2587 | 102/18723 | 5.54e-03 | 4.52e-02 | 24 |
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:000184115 | Esophagus | ESCC | neural tube formation | 75/8552 | 102/18723 | 9.68e-09 | 1.95e-07 | 75 |
GO:000184314 | Esophagus | ESCC | neural tube closure | 66/8552 | 88/18723 | 1.98e-08 | 3.82e-07 | 66 |
GO:001402014 | Esophagus | ESCC | primary neural tube formation | 69/8552 | 94/18723 | 4.22e-08 | 7.76e-07 | 69 |
GO:006060614 | Esophagus | ESCC | tube closure | 66/8552 | 89/18723 | 4.24e-08 | 7.76e-07 | 66 |
GO:000726510 | Esophagus | ESCC | Ras protein signal transduction | 201/8552 | 337/18723 | 1.44e-07 | 2.30e-06 | 201 |
GO:00219159 | Esophagus | ESCC | neural tube development | 101/8552 | 152/18723 | 1.78e-07 | 2.79e-06 | 101 |
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 |
CELSR1 | SNV | Missense_Mutation | rs73888514 | c.4171N>A | p.Glu1391Lys | p.E1391K | Q9NYQ6 | protein_coding | tolerated(0.08) | benign(0.425) | TCGA-3C-AALI-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unspecific | Poly E | Complete Response |
CELSR1 | SNV | Missense_Mutation | novel | c.8630G>A | p.Ser2877Asn | p.S2877N | Q9NYQ6 | protein_coding | tolerated(0.32) | benign(0.05) | TCGA-A2-A4RW-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
CELSR1 | SNV | Missense_Mutation | | c.6920C>T | p.Thr2307Ile | p.T2307I | Q9NYQ6 | protein_coding | tolerated(0.42) | benign(0.216) | TCGA-A8-A08R-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
CELSR1 | SNV | Missense_Mutation | rs146465806 | c.8269N>A | p.Glu2757Lys | p.E2757K | Q9NYQ6 | protein_coding | tolerated(0.09) | possibly_damaging(0.636) | TCGA-AC-A8OQ-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
CELSR1 | SNV | Missense_Mutation | rs143915949 | c.8410N>A | p.Asp2804Asn | p.D2804N | Q9NYQ6 | protein_coding | deleterious(0.01) | possibly_damaging(0.871) | TCGA-C8-A27B-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | 5-fluorouracil | CR |
CELSR1 | SNV | Missense_Mutation | rs775423517 | c.8191G>A | p.Ala2731Thr | p.A2731T | Q9NYQ6 | protein_coding | tolerated(0.11) | benign(0.157) | TCGA-D8-A1XK-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicine+cyclophosphamide | SD |
CELSR1 | SNV | Missense_Mutation | novel | c.3998N>G | p.Ser1333Cys | p.S1333C | Q9NYQ6 | protein_coding | deleterious(0) | probably_damaging(0.993) | TCGA-E9-A3QA-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
CELSR1 | SNV | Missense_Mutation | | c.860T>C | p.Leu287Pro | p.L287P | Q9NYQ6 | protein_coding | deleterious(0.02) | probably_damaging(0.995) | TCGA-EW-A1P0-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | arimidex | PD |
CELSR1 | insertion | Nonsense_Mutation | novel | c.5926_5927insTCGTGTCTCCAGAAATGCACACGCGTTCTCAGTGCAGACTCTAGGGA | p.Pro1976LeufsTer15 | p.P1976Lfs*15 | Q9NYQ6 | protein_coding | | | TCGA-BH-A0HF-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | arimidex | SD |
CELSR1 | insertion | Frame_Shift_Ins | novel | c.5313_5314insC | p.Gly1772ArgfsTer14 | p.G1772Rfs*14 | Q9NYQ6 | protein_coding | | | TCGA-C8-A1HK-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |