Tissue | Expression Dynamics | Abbreviation |
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/CHD7_pca_on_diff_genes.png) | CC: Cervix cancer |
HSIL_HPV: HPV-infected high-grade squamous intraepithelial lesions |
N_HPV: HPV-infected normal cervix |
Colorectum (GSE201348) | ![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/Colorectum/Becker/CHD7_pca_on_diff_genes.png) | FAP: Familial adenomatous polyposis |
CRC: Colorectal cancer |
Colorectum (HTA11) | ![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/Colorectum/Chen/CHD7_pca_on_diff_genes.png) | AD: Adenomas |
SER: Sessile serrated lesions |
MSI-H: Microsatellite-high colorectal cancer |
MSS: Microsatellite stable colorectal 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/CHD7_pca_on_diff_genes.png) | ESCC: Esophageal squamous cell carcinoma |
HGIN: High-grade intraepithelial neoplasias |
LGIN: Low-grade intraepithelial neoplasias |
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/CHD7_pca_on_diff_genes.png) | HCC: Hepatocellular carcinoma |
NAFLD: Non-alcoholic fatty liver disease |
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/CHD7_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/CHD7_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:00422541 | Colorectum | SER | ribosome biogenesis | 66/2897 | 299/18723 | 1.48e-03 | 1.60e-02 | 66 |
GO:00017011 | Colorectum | SER | in utero embryonic development | 77/2897 | 367/18723 | 2.77e-03 | 2.48e-02 | 77 |
GO:00158331 | Colorectum | SER | peptide transport | 58/2897 | 264/18723 | 3.08e-03 | 2.70e-02 | 58 |
GO:00614581 | Colorectum | SER | reproductive system development | 87/2897 | 427/18723 | 3.69e-03 | 3.07e-02 | 87 |
GO:00900871 | Colorectum | SER | regulation of peptide transport | 46/2897 | 202/18723 | 3.86e-03 | 3.18e-02 | 46 |
GO:00459271 | Colorectum | SER | positive regulation of growth | 56/2897 | 259/18723 | 5.10e-03 | 3.91e-02 | 56 |
GO:00027911 | Colorectum | SER | regulation of peptide secretion | 45/2897 | 200/18723 | 5.35e-03 | 4.03e-02 | 45 |
GO:00902761 | Colorectum | SER | regulation of peptide hormone secretion | 44/2897 | 196/18723 | 6.08e-03 | 4.42e-02 | 44 |
GO:0035107 | Colorectum | SER | appendage morphogenesis | 33/2897 | 138/18723 | 6.10e-03 | 4.42e-02 | 33 |
GO:0035108 | Colorectum | SER | limb morphogenesis | 33/2897 | 138/18723 | 6.10e-03 | 4.42e-02 | 33 |
GO:00486081 | Colorectum | SER | reproductive structure development | 85/2897 | 424/18723 | 6.33e-03 | 4.56e-02 | 85 |
GO:00516511 | Colorectum | SER | maintenance of location in cell | 47/2897 | 214/18723 | 7.20e-03 | 4.99e-02 | 47 |
GO:00226132 | Colorectum | MSS | ribonucleoprotein complex biogenesis | 144/3467 | 463/18723 | 2.76e-11 | 3.67e-09 | 144 |
GO:00614582 | Colorectum | MSS | reproductive system development | 115/3467 | 427/18723 | 9.86e-06 | 2.39e-04 | 115 |
GO:00486082 | Colorectum | MSS | reproductive structure development | 113/3467 | 424/18723 | 1.94e-05 | 4.18e-04 | 113 |
GO:00017012 | Colorectum | MSS | in utero embryonic development | 99/3467 | 367/18723 | 3.71e-05 | 7.10e-04 | 99 |
GO:00063252 | Colorectum | MSS | chromatin organization | 107/3467 | 409/18723 | 7.22e-05 | 1.21e-03 | 107 |
GO:00507671 | Colorectum | MSS | regulation of neurogenesis | 94/3467 | 364/18723 | 3.12e-04 | 4.06e-03 | 94 |
GO:00422542 | Colorectum | MSS | ribosome biogenesis | 79/3467 | 299/18723 | 4.32e-04 | 5.23e-03 | 79 |
GO:00158332 | Colorectum | MSS | peptide transport | 71/3467 | 264/18723 | 4.79e-04 | 5.60e-03 | 71 |
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 |
CHD7 | SNV | Missense_Mutation | novel | c.181N>G | p.Gln61Glu | p.Q61E | Q9P2D1 | protein_coding | deleterious_low_confidence(0.03) | benign(0.053) | TCGA-5L-AAT1-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Hormone Therapy | letrozol | SD |
CHD7 | SNV | Missense_Mutation | | c.4660N>T | p.Asp1554Tyr | p.D1554Y | Q9P2D1 | protein_coding | deleterious(0) | possibly_damaging(0.825) | TCGA-A2-A04P-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | taxol | PD |
CHD7 | SNV | Missense_Mutation | | c.8096T>A | p.Met2699Lys | p.M2699K | Q9P2D1 | protein_coding | tolerated(0.5) | possibly_damaging(0.888) | TCGA-A7-A13G-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | arimidex | PD |
CHD7 | SNV | Missense_Mutation | | c.6571G>C | p.Glu2191Gln | p.E2191Q | Q9P2D1 | protein_coding | tolerated(0.15) | benign(0.003) | TCGA-A7-A26H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | anastrozole | PD |
CHD7 | SNV | Missense_Mutation | | c.7756N>T | p.Pro2586Ser | p.P2586S | Q9P2D1 | protein_coding | deleterious(0.02) | benign(0.026) | TCGA-A7-A26I-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | cytoxan | SD |
CHD7 | SNV | Missense_Mutation | novel | c.1537N>T | p.Thr513Ser | p.T513S | Q9P2D1 | protein_coding | tolerated_low_confidence(0.62) | benign(0) | TCGA-A7-A4SC-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | SD |
CHD7 | SNV | Missense_Mutation | rs368609862 | c.5440N>A | p.Ala1814Thr | p.A1814T | Q9P2D1 | protein_coding | tolerated(0.22) | benign(0.009) | TCGA-A8-A091-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | 5-fluorouracil | PD |
CHD7 | SNV | Missense_Mutation | | c.223N>C | p.Tyr75His | p.Y75H | Q9P2D1 | protein_coding | deleterious_low_confidence(0) | probably_damaging(0.987) | TCGA-A8-A09Z-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
CHD7 | SNV | Missense_Mutation | rs750047137 | c.6529N>A | p.Glu2177Lys | p.E2177K | Q9P2D1 | protein_coding | tolerated(0.45) | benign(0.003) | TCGA-AC-A23H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
CHD7 | SNV | Missense_Mutation | | c.4611G>C | p.Lys1537Asn | p.K1537N | Q9P2D1 | protein_coding | deleterious(0.01) | probably_damaging(0.946) | TCGA-AN-A0G0-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |