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:001049810 | Cervix | CC | proteasomal protein catabolic process | 111/2311 | 490/18723 | 8.98e-11 | 1.58e-08 | 111 |
GO:004316110 | Cervix | CC | proteasome-mediated ubiquitin-dependent protein catabolic process | 91/2311 | 412/18723 | 1.65e-08 | 1.25e-06 | 91 |
GO:00719007 | Cervix | CC | regulation of protein serine/threonine kinase activity | 75/2311 | 359/18723 | 2.76e-06 | 8.02e-05 | 75 |
GO:005134810 | Cervix | CC | negative regulation of transferase activity | 60/2311 | 268/18723 | 2.77e-06 | 8.02e-05 | 60 |
GO:004593610 | Cervix | CC | negative regulation of phosphate metabolic process | 88/2311 | 441/18723 | 2.92e-06 | 8.27e-05 | 88 |
GO:001056310 | Cervix | CC | negative regulation of phosphorus metabolic process | 88/2311 | 442/18723 | 3.21e-06 | 8.77e-05 | 88 |
GO:004232610 | Cervix | CC | negative regulation of phosphorylation | 77/2311 | 385/18723 | 1.09e-05 | 2.38e-04 | 77 |
GO:00615647 | Cervix | CC | axon development | 89/2311 | 467/18723 | 1.71e-05 | 3.27e-04 | 89 |
GO:000193310 | Cervix | CC | negative regulation of protein phosphorylation | 69/2311 | 342/18723 | 2.29e-05 | 4.01e-04 | 69 |
GO:00516567 | Cervix | CC | establishment of organelle localization | 76/2311 | 390/18723 | 3.17e-05 | 5.21e-04 | 76 |
GO:000646910 | Cervix | CC | negative regulation of protein kinase activity | 47/2311 | 212/18723 | 4.13e-05 | 6.36e-04 | 47 |
GO:00336739 | Cervix | CC | negative regulation of kinase activity | 50/2311 | 237/18723 | 9.22e-05 | 1.21e-03 | 50 |
GO:00074097 | Cervix | CC | axonogenesis | 78/2311 | 418/18723 | 1.14e-04 | 1.43e-03 | 78 |
GO:00162367 | Cervix | CC | macroautophagy | 58/2311 | 291/18723 | 1.40e-04 | 1.70e-03 | 58 |
GO:00105067 | Cervix | CC | regulation of autophagy | 61/2311 | 317/18723 | 2.61e-04 | 2.87e-03 | 61 |
GO:00307057 | Cervix | CC | cytoskeleton-dependent intracellular transport | 40/2311 | 195/18723 | 7.92e-04 | 6.99e-03 | 40 |
GO:00426924 | Cervix | CC | muscle cell differentiation | 69/2311 | 384/18723 | 8.12e-04 | 7.09e-03 | 69 |
GO:00434099 | Cervix | CC | negative regulation of MAPK cascade | 37/2311 | 180/18723 | 1.17e-03 | 9.50e-03 | 37 |
GO:00516541 | Cervix | CC | establishment of mitochondrion localization | 10/2311 | 29/18723 | 1.74e-03 | 1.31e-02 | 10 |
GO:00094109 | Cervix | CC | response to xenobiotic stimulus | 78/2311 | 462/18723 | 2.39e-03 | 1.70e-02 | 78 |
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 |