Tissue | Expression Dynamics | Abbreviation |
Cervix | | CC: Cervix cancer |
HSIL_HPV: HPV-infected high-grade squamous intraepithelial lesions |
N_HPV: HPV-infected normal cervix |
Colorectum (GSE201348) | | FAP: Familial adenomatous polyposis |
CRC: Colorectal cancer |
Colorectum (HTA11) | | AD: Adenomas |
SER: Sessile serrated lesions |
MSI-H: Microsatellite-high colorectal cancer |
MSS: Microsatellite stable colorectal cancer |
Esophagus | | ESCC: Esophageal squamous cell carcinoma |
HGIN: High-grade intraepithelial neoplasias |
LGIN: Low-grade intraepithelial neoplasias |
Liver | | HCC: Hepatocellular carcinoma |
NAFLD: Non-alcoholic fatty liver disease |
Oral Cavity | | EOLP: Erosive Oral lichen planus |
LP: leukoplakia |
NEOLP: Non-erosive oral lichen planus |
OSCC: Oral squamous cell carcinoma |
Thyroid | | 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:00486392 | Colorectum | FAP | positive regulation of developmental growth | 47/2622 | 174/18723 | 4.55e-06 | 1.52e-04 | 47 |
GO:00507672 | Colorectum | FAP | regulation of neurogenesis | 82/2622 | 364/18723 | 6.28e-06 | 1.96e-04 | 82 |
GO:00486382 | Colorectum | FAP | regulation of developmental growth | 75/2622 | 330/18723 | 1.11e-05 | 3.10e-04 | 75 |
GO:00017013 | Colorectum | FAP | in utero embryonic development | 81/2622 | 367/18723 | 1.58e-05 | 4.10e-04 | 81 |
GO:0023061 | Colorectum | FAP | signal release | 94/2622 | 463/18723 | 1.06e-04 | 1.76e-03 | 94 |
GO:00063253 | Colorectum | FAP | chromatin organization | 84/2622 | 409/18723 | 1.62e-04 | 2.47e-03 | 84 |
GO:0010959 | Colorectum | FAP | regulation of metal ion transport | 83/2622 | 406/18723 | 2.06e-04 | 2.96e-03 | 83 |
GO:00519601 | Colorectum | FAP | regulation of nervous system development | 89/2622 | 443/18723 | 2.32e-04 | 3.25e-03 | 89 |
GO:00158333 | Colorectum | FAP | peptide transport | 58/2622 | 264/18723 | 2.71e-04 | 3.64e-03 | 58 |
GO:00351071 | Colorectum | FAP | appendage morphogenesis | 35/2622 | 138/18723 | 2.74e-04 | 3.66e-03 | 35 |
GO:00351081 | Colorectum | FAP | limb morphogenesis | 35/2622 | 138/18723 | 2.74e-04 | 3.66e-03 | 35 |
GO:00226134 | Colorectum | FAP | ribonucleoprotein complex biogenesis | 91/2622 | 463/18723 | 4.28e-04 | 5.12e-03 | 91 |
GO:00614583 | Colorectum | FAP | reproductive system development | 85/2622 | 427/18723 | 4.30e-04 | 5.13e-03 | 85 |
GO:00902763 | Colorectum | FAP | regulation of peptide hormone secretion | 45/2622 | 196/18723 | 4.66e-04 | 5.41e-03 | 45 |
GO:00900873 | Colorectum | FAP | regulation of peptide transport | 46/2622 | 202/18723 | 4.91e-04 | 5.66e-03 | 46 |
GO:00486083 | Colorectum | FAP | reproductive structure development | 84/2622 | 424/18723 | 5.40e-04 | 6.10e-03 | 84 |
GO:00487363 | Colorectum | FAP | appendage development | 40/2622 | 172/18723 | 7.15e-04 | 7.66e-03 | 40 |
GO:00601733 | Colorectum | FAP | limb development | 40/2622 | 172/18723 | 7.15e-04 | 7.66e-03 | 40 |
GO:00027913 | Colorectum | FAP | regulation of peptide secretion | 45/2622 | 200/18723 | 7.36e-04 | 7.83e-03 | 45 |
GO:00300722 | Colorectum | FAP | peptide hormone secretion | 51/2622 | 236/18723 | 9.09e-04 | 9.19e-03 | 51 |
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 |