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:0042326113 | Thyroid | PTC | negative regulation of phosphorylation | 189/5968 | 385/18723 | 1.00e-12 | 4.64e-11 | 189 |
GO:001624110 | Thyroid | PTC | regulation of macroautophagy | 84/5968 | 141/18723 | 1.04e-11 | 4.27e-10 | 84 |
GO:0051348113 | Thyroid | PTC | negative regulation of transferase activity | 137/5968 | 268/18723 | 3.78e-11 | 1.36e-09 | 137 |
GO:0030705111 | Thyroid | PTC | cytoskeleton-dependent intracellular transport | 104/5968 | 195/18723 | 3.87e-10 | 1.24e-08 | 104 |
GO:0006469111 | Thyroid | PTC | negative regulation of protein kinase activity | 107/5968 | 212/18723 | 1.24e-08 | 2.96e-07 | 107 |
GO:0071900110 | Thyroid | PTC | regulation of protein serine/threonine kinase activity | 164/5968 | 359/18723 | 2.41e-08 | 5.43e-07 | 164 |
GO:0033673111 | Thyroid | PTC | negative regulation of kinase activity | 115/5968 | 237/18723 | 5.98e-08 | 1.26e-06 | 115 |
GO:00109709 | Thyroid | PTC | transport along microtubule | 80/5968 | 155/18723 | 2.48e-07 | 4.32e-06 | 80 |
GO:006156419 | Thyroid | PTC | axon development | 199/5968 | 467/18723 | 5.27e-07 | 8.53e-06 | 199 |
GO:000740918 | Thyroid | PTC | axonogenesis | 178/5968 | 418/18723 | 2.17e-06 | 2.91e-05 | 178 |
GO:00723848 | Thyroid | PTC | organelle transport along microtubule | 47/5968 | 85/18723 | 6.61e-06 | 7.83e-05 | 47 |
GO:00991115 | Thyroid | PTC | microtubule-based transport | 88/5968 | 190/18723 | 2.08e-05 | 2.08e-04 | 88 |
GO:000808819 | Thyroid | PTC | axo-dendritic transport | 39/5968 | 75/18723 | 2.31e-04 | 1.67e-03 | 39 |
GO:00706465 | Thyroid | PTC | protein modification by small protein removal | 71/5968 | 157/18723 | 3.03e-04 | 2.12e-03 | 71 |
GO:00029314 | Thyroid | PTC | response to ischemia | 31/5968 | 58/18723 | 5.31e-04 | 3.41e-03 | 31 |
GO:00989305 | Thyroid | PTC | axonal transport | 33/5968 | 64/18723 | 8.26e-04 | 5.11e-03 | 33 |
GO:007190112 | Thyroid | PTC | negative regulation of protein serine/threonine kinase activity | 55/5968 | 120/18723 | 9.30e-04 | 5.65e-03 | 55 |
GO:00434057 | Thyroid | PTC | regulation of MAP kinase activity | 75/5968 | 177/18723 | 2.04e-03 | 1.09e-02 | 75 |
GO:0043409112 | Thyroid | PTC | negative regulation of MAPK cascade | 76/5968 | 180/18723 | 2.15e-03 | 1.14e-02 | 76 |
GO:00516544 | Thyroid | PTC | establishment of mitochondrion localization | 17/5968 | 29/18723 | 2.65e-03 | 1.35e-02 | 17 |
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 |