Tissue | Expression Dynamics | Abbreviation |
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 |
Skin | | AK: Actinic keratosis |
cSCC: Cutaneous squamous cell carcinoma |
SCCIS:squamous cell carcinoma in situ |
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:00435888 | Esophagus | ESCC | skin development | 163/8552 | 263/18723 | 6.48e-08 | 1.14e-06 | 163 |
GO:000150317 | Esophagus | ESCC | ossification | 232/8552 | 408/18723 | 3.00e-06 | 3.40e-05 | 232 |
GO:00073698 | Esophagus | ESCC | gastrulation | 115/8552 | 185/18723 | 4.35e-06 | 4.64e-05 | 115 |
GO:00074926 | Esophagus | ESCC | endoderm development | 54/8552 | 77/18723 | 1.20e-05 | 1.12e-04 | 54 |
GO:00301984 | Esophagus | ESCC | extracellular matrix organization | 171/8552 | 301/18723 | 6.08e-05 | 4.67e-04 | 171 |
GO:00432007 | Esophagus | ESCC | response to amino acid | 74/8552 | 116/18723 | 6.23e-05 | 4.76e-04 | 74 |
GO:000110110 | Esophagus | ESCC | response to acid chemical | 84/8552 | 135/18723 | 7.70e-05 | 5.74e-04 | 84 |
GO:00430624 | Esophagus | ESCC | extracellular structure organization | 171/8552 | 302/18723 | 7.73e-05 | 5.76e-04 | 171 |
GO:00452294 | Esophagus | ESCC | external encapsulating structure organization | 172/8552 | 304/18723 | 7.80e-05 | 5.80e-04 | 172 |
GO:00712305 | Esophagus | ESCC | cellular response to amino acid stimulus | 48/8552 | 71/18723 | 1.55e-04 | 1.03e-03 | 48 |
GO:00017064 | Esophagus | ESCC | endoderm formation | 38/8552 | 54/18723 | 2.08e-04 | 1.31e-03 | 38 |
GO:00017044 | Esophagus | ESCC | formation of primary germ layer | 75/8552 | 121/18723 | 2.17e-04 | 1.36e-03 | 75 |
GO:00712296 | Esophagus | ESCC | cellular response to acid chemical | 52/8552 | 80/18723 | 3.79e-04 | 2.20e-03 | 52 |
GO:00359873 | Esophagus | ESCC | endodermal cell differentiation | 32/8552 | 45/18723 | 4.87e-04 | 2.70e-03 | 32 |
GO:00301993 | Esophagus | ESCC | collagen fibril organization | 40/8552 | 61/18723 | 1.35e-03 | 6.44e-03 | 40 |
GO:000110111 | Liver | HCC | response to acid chemical | 79/7958 | 135/18723 | 1.24e-04 | 1.03e-03 | 79 |
GO:004320011 | Liver | HCC | response to amino acid | 68/7958 | 116/18723 | 3.31e-04 | 2.33e-03 | 68 |
GO:00712291 | Liver | HCC | cellular response to acid chemical | 45/7958 | 80/18723 | 9.02e-03 | 3.48e-02 | 45 |
GO:00074921 | Liver | HCC | endoderm development | 43/7958 | 77/18723 | 1.24e-02 | 4.51e-02 | 43 |
GO:00435887 | Oral cavity | OSCC | skin development | 143/7305 | 263/18723 | 2.77e-07 | 4.27e-06 | 143 |
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 |
COL5A2 | SNV | Missense_Mutation | novel | c.3748N>C | p.Glu1250Gln | p.E1250Q | P05997 | protein_coding | tolerated(0.29) | possibly_damaging(0.616) | TCGA-A2-A0YK-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cytoxan | SD |
COL5A2 | SNV | Missense_Mutation | | c.2452N>G | p.Pro818Ala | p.P818A | P05997 | protein_coding | tolerated(0.65) | benign(0.021) | TCGA-A7-A26J-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | SD |
COL5A2 | SNV | Missense_Mutation | rs760569641 | c.4357N>T | p.Arg1453Trp | p.R1453W | P05997 | protein_coding | deleterious(0) | probably_damaging(0.924) | TCGA-A8-A075-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | epirubicin | CR |
COL5A2 | SNV | Missense_Mutation | | c.3662N>T | p.Gly1221Val | p.G1221V | P05997 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-AN-A0FL-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
COL5A2 | SNV | Missense_Mutation | novel | c.2267G>C | p.Gly756Ala | p.G756A | P05997 | protein_coding | deleterious(0.02) | probably_damaging(0.996) | TCGA-AR-A5QQ-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Chemotherapy | carboplatin | PD |
COL5A2 | SNV | Missense_Mutation | | c.721N>A | p.Glu241Lys | p.E241K | P05997 | protein_coding | deleterious(0.02) | possibly_damaging(0.614) | TCGA-BH-A0AW-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | carboplatin | SD |
COL5A2 | SNV | Missense_Mutation | | c.505N>A | p.Gln169Lys | p.Q169K | P05997 | protein_coding | tolerated(0.88) | benign(0.43) | TCGA-D8-A1J8-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | nolvadex | SD |
COL5A2 | SNV | Missense_Mutation | | c.3293N>C | p.Gly1098Ala | p.G1098A | P05997 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-D8-A1JA-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | adriamycin | PD |
COL5A2 | SNV | Missense_Mutation | | c.1744N>C | p.Gly582Arg | p.G582R | P05997 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-E2-A158-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | arimidex | SD |
COL5A2 | SNV | Missense_Mutation | novel | c.1679N>A | p.Pro560Gln | p.P560Q | P05997 | protein_coding | deleterious(0.02) | probably_damaging(0.993) | TCGA-E2-A1IE-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | PD |