Tissue | Expression Dynamics | Abbreviation |
Endometrium | | AEH: Atypical endometrial hyperplasia |
EEC: Endometrioid Cancer |
Esophagus | | ESCC: Esophageal squamous cell carcinoma |
HGIN: High-grade intraepithelial neoplasias |
LGIN: Low-grade intraepithelial neoplasias |
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:004206016 | Endometrium | AEH | wound healing | 91/2100 | 422/18723 | 4.85e-10 | 4.61e-08 | 91 |
GO:00030072 | Endometrium | AEH | heart morphogenesis | 45/2100 | 246/18723 | 6.41e-04 | 6.23e-03 | 45 |
GO:00443194 | Endometrium | AEH | wound healing, spreading of cells | 11/2100 | 34/18723 | 8.45e-04 | 7.82e-03 | 11 |
GO:00905054 | Endometrium | AEH | epiboly involved in wound healing | 11/2100 | 34/18723 | 8.45e-04 | 7.82e-03 | 11 |
GO:00905044 | Endometrium | AEH | epiboly | 11/2100 | 35/18723 | 1.11e-03 | 9.71e-03 | 11 |
GO:0061448 | Endometrium | AEH | connective tissue development | 44/2100 | 252/18723 | 1.92e-03 | 1.51e-02 | 44 |
GO:00435885 | Endometrium | AEH | skin development | 45/2100 | 263/18723 | 2.58e-03 | 1.90e-02 | 45 |
GO:00020112 | Endometrium | AEH | morphogenesis of an epithelial sheet | 14/2100 | 57/18723 | 3.48e-03 | 2.39e-02 | 14 |
GO:0030199 | Endometrium | AEH | collagen fibril organization | 14/2100 | 61/18723 | 6.65e-03 | 3.91e-02 | 14 |
GO:004206017 | Endometrium | EEC | wound healing | 92/2168 | 422/18723 | 1.12e-09 | 9.58e-08 | 92 |
GO:004431911 | Endometrium | EEC | wound healing, spreading of cells | 11/2168 | 34/18723 | 1.10e-03 | 9.48e-03 | 11 |
GO:009050511 | Endometrium | EEC | epiboly involved in wound healing | 11/2168 | 34/18723 | 1.10e-03 | 9.48e-03 | 11 |
GO:00030071 | Endometrium | EEC | heart morphogenesis | 45/2168 | 246/18723 | 1.24e-03 | 1.03e-02 | 45 |
GO:009050411 | Endometrium | EEC | epiboly | 11/2168 | 35/18723 | 1.44e-03 | 1.17e-02 | 11 |
GO:00614481 | Endometrium | EEC | connective tissue development | 44/2168 | 252/18723 | 3.51e-03 | 2.36e-02 | 44 |
GO:000201111 | Endometrium | EEC | morphogenesis of an epithelial sheet | 14/2168 | 57/18723 | 4.65e-03 | 2.97e-02 | 14 |
GO:004358814 | Endometrium | EEC | skin development | 45/2168 | 263/18723 | 4.69e-03 | 2.99e-02 | 45 |
GO:00301991 | Endometrium | EEC | collagen fibril organization | 14/2168 | 61/18723 | 8.76e-03 | 4.74e-02 | 14 |
GO:00435888 | Esophagus | ESCC | skin development | 163/8552 | 263/18723 | 6.48e-08 | 1.14e-06 | 163 |
GO:004206027 | Esophagus | ESCC | wound healing | 243/8552 | 422/18723 | 4.62e-07 | 6.25e-06 | 243 |
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 |
COL5A1 | SNV | Missense_Mutation | rs796151769 | c.4252N>T | p.Pro1418Ser | p.P1418S | P20908 | protein_coding | deleterious(0.02) | benign(0.253) | TCGA-A2-A3XV-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | carboplatin | CR |
COL5A1 | SNV | Missense_Mutation | | c.1346N>T | p.Arg449Leu | p.R449L | P20908 | protein_coding | tolerated(0.3) | benign(0.006) | TCGA-A7-A0DB-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | arimidex | SD |
COL5A1 | SNV | Missense_Mutation | | c.2839N>A | p.Glu947Lys | p.E947K | P20908 | protein_coding | deleterious(0.01) | probably_damaging(0.931) | TCGA-AC-A23H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
COL5A1 | SNV | Missense_Mutation | novel | c.4450N>A | p.His1484Asn | p.H1484N | P20908 | protein_coding | deleterious(0) | probably_damaging(0.988) | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
COL5A1 | SNV | Missense_Mutation | rs775853003 | c.691C>T | p.Arg231Trp | p.R231W | P20908 | protein_coding | deleterious(0) | possibly_damaging(0.908) | TCGA-AN-A0AK-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
COL5A1 | SNV | Missense_Mutation | | c.448G>A | p.Glu150Lys | p.E150K | P20908 | protein_coding | tolerated(0.07) | probably_damaging(0.995) | TCGA-AO-A128-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | SD |
COL5A1 | SNV | Missense_Mutation | | c.958A>G | p.Met320Val | p.M320V | P20908 | protein_coding | tolerated(0.72) | benign(0) | TCGA-AO-A128-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | SD |
COL5A1 | SNV | Missense_Mutation | novel | c.931N>T | p.Thr311Ser | p.T311S | P20908 | protein_coding | tolerated(0.73) | benign(0.009) | TCGA-AR-A2LO-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | SD |
COL5A1 | SNV | Missense_Mutation | | c.3484N>A | p.Gly1162Arg | p.G1162R | P20908 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-BH-A18G-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
COL5A1 | SNV | Missense_Mutation | rs763650548 | c.1430C>T | p.Ala477Val | p.A477V | P20908 | protein_coding | tolerated(0.11) | probably_damaging(0.984) | TCGA-C8-A12Y-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |