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/CHL1_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/CHL1_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/CHL1_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/CHL1_pca_on_diff_genes.png) | EOLP: Erosive Oral lichen planus |
LP: leukoplakia |
NEOLP: Non-erosive oral lichen planus |
OSCC: Oral squamous cell carcinoma |
GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:005134820 | Oral cavity | OSCC | negative regulation of transferase activity | 165/7305 | 268/18723 | 5.02e-14 | 2.74e-12 | 165 |
GO:001056320 | Oral cavity | OSCC | negative regulation of phosphorus metabolic process | 246/7305 | 442/18723 | 6.12e-13 | 2.89e-11 | 246 |
GO:004593620 | Oral cavity | OSCC | negative regulation of phosphate metabolic process | 245/7305 | 441/18723 | 8.85e-13 | 4.09e-11 | 245 |
GO:00162417 | Oral cavity | OSCC | regulation of macroautophagy | 96/7305 | 141/18723 | 2.33e-12 | 9.75e-11 | 96 |
GO:004232619 | Oral cavity | OSCC | negative regulation of phosphorylation | 214/7305 | 385/18723 | 2.30e-11 | 7.74e-10 | 214 |
GO:007190010 | Oral cavity | OSCC | regulation of protein serine/threonine kinase activity | 201/7305 | 359/18723 | 3.90e-11 | 1.27e-09 | 201 |
GO:000193319 | Oral cavity | OSCC | negative regulation of protein phosphorylation | 191/7305 | 342/18723 | 1.58e-10 | 4.62e-09 | 191 |
GO:003367317 | Oral cavity | OSCC | negative regulation of kinase activity | 140/7305 | 237/18723 | 2.74e-10 | 7.57e-09 | 140 |
GO:000646918 | Oral cavity | OSCC | negative regulation of protein kinase activity | 127/7305 | 212/18723 | 5.21e-10 | 1.37e-08 | 127 |
GO:003070510 | Oral cavity | OSCC | cytoskeleton-dependent intracellular transport | 113/7305 | 195/18723 | 6.03e-08 | 1.09e-06 | 113 |
GO:00310999 | Oral cavity | OSCC | regeneration | 114/7305 | 198/18723 | 8.54e-08 | 1.50e-06 | 114 |
GO:004340917 | Oral cavity | OSCC | negative regulation of MAPK cascade | 105/7305 | 180/18723 | 1.10e-07 | 1.87e-06 | 105 |
GO:00434054 | Oral cavity | OSCC | regulation of MAP kinase activity | 101/7305 | 177/18723 | 8.13e-07 | 1.12e-05 | 101 |
GO:00719013 | Oral cavity | OSCC | negative regulation of protein serine/threonine kinase activity | 72/7305 | 120/18723 | 2.53e-06 | 3.17e-05 | 72 |
GO:00109706 | Oral cavity | OSCC | transport along microtubule | 88/7305 | 155/18723 | 5.35e-06 | 6.02e-05 | 88 |
GO:00723845 | Oral cavity | OSCC | organelle transport along microtubule | 53/7305 | 85/18723 | 1.10e-05 | 1.14e-04 | 53 |
GO:00434073 | Oral cavity | OSCC | negative regulation of MAP kinase activity | 39/7305 | 59/18723 | 2.28e-05 | 2.16e-04 | 39 |
GO:000941018 | Oral cavity | OSCC | response to xenobiotic stimulus | 222/7305 | 462/18723 | 4.00e-05 | 3.48e-04 | 222 |
GO:00080889 | Oral cavity | OSCC | axo-dendritic transport | 46/7305 | 75/18723 | 7.44e-05 | 5.81e-04 | 46 |
GO:00989303 | Oral cavity | OSCC | axonal transport | 39/7305 | 64/18723 | 3.12e-04 | 1.94e-03 | 39 |
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 |
CHL1 | SNV | Missense_Mutation | | c.1279C>T | p.Leu427Phe | p.L427F | O00533 | protein_coding | deleterious(0) | probably_damaging(0.998) | TCGA-A2-A3Y0-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | CR |
CHL1 | SNV | Missense_Mutation | rs541454458 | c.1879G>A | p.Val627Ile | p.V627I | O00533 | protein_coding | deleterious(0.03) | possibly_damaging(0.684) | TCGA-A8-A09G-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Unknown | Unknown | SD |
CHL1 | SNV | Missense_Mutation | rs141644867 | c.1456N>T | p.Arg486Trp | p.R486W | O00533 | protein_coding | deleterious(0) | probably_damaging(0.996) | TCGA-AO-A0JM-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | SD |
CHL1 | SNV | Missense_Mutation | novel | c.820N>A | p.Leu274Met | p.L274M | O00533 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-PE-A5DE-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | taxotere | CR |
CHL1 | insertion | Nonsense_Mutation | novel | c.2882_2883insAAAGGTTCAGAATGAGAAATAGCCAACT | p.Asn961LysfsTer8 | p.N961Kfs*8 | O00533 | protein_coding | | | TCGA-A8-A06X-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
CHL1 | deletion | Frame_Shift_Del | novel | c.3583delN | p.Gly1195AspfsTer58 | p.G1195Dfs*58 | O00533 | protein_coding | | | TCGA-D8-A27V-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | SD |
CHL1 | deletion | Frame_Shift_Del | novel | c.1086delN | p.Ser362ArgfsTer79 | p.S362Rfs*79 | O00533 | protein_coding | | | TCGA-EW-A2FV-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | docetaxel | SD |
CHL1 | SNV | Missense_Mutation | rs185238679 | c.1457G>A | p.Arg486Gln | p.R486Q | O00533 | protein_coding | deleterious(0.03) | probably_damaging(0.944) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
CHL1 | SNV | Missense_Mutation | | c.2629N>T | p.His877Tyr | p.H877Y | O00533 | protein_coding | tolerated(1) | benign(0.283) | TCGA-C5-A1BI-01 | Cervix | cervical & endocervical cancer | Female | <65 | III/IV | Chemotherapy | cisplatin | SD |
CHL1 | SNV | Missense_Mutation | novel | c.2606N>T | p.Lys869Ile | p.K869I | O00533 | protein_coding | deleterious(0.03) | possibly_damaging(0.713) | TCGA-C5-A7X3-01 | Cervix | cervical & endocervical cancer | Female | >=65 | III/IV | Chemotherapy | cisplatin | SD |