Tissue | Expression Dynamics | Abbreviation |
Endometrium | ![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/Endometrium/COL5A1_pca_on_diff_genes.png) | AEH: Atypical endometrial hyperplasia |
EEC: Endometrioid Cancer |
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/COL5A1_pca_on_diff_genes.png) | ESCC: Esophageal squamous cell carcinoma |
HGIN: High-grade intraepithelial neoplasias |
LGIN: Low-grade intraepithelial neoplasias |
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/COL5A1_pca_on_diff_genes.png) | EOLP: Erosive Oral lichen planus |
LP: leukoplakia |
NEOLP: Non-erosive oral lichen planus |
OSCC: Oral squamous cell carcinoma |
Thyroid | ![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/Thyroid/COL5A1_pca_on_diff_genes.png) | 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 | rs374868484 | c.4276N>A | p.Gly1426Ser | p.G1426S | P20908 | protein_coding | deleterious(0) | probably_damaging(0.998) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
COL5A1 | SNV | Missense_Mutation | | c.4969N>A | p.Asp1657Asn | p.D1657N | P20908 | protein_coding | deleterious(0) | probably_damaging(0.996) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
COL5A1 | SNV | Missense_Mutation | novel | c.629N>A | p.Arg210Gln | p.R210Q | P20908 | protein_coding | tolerated(0.35) | probably_damaging(0.994) | TCGA-C5-A1BE-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | PD |
COL5A1 | SNV | Missense_Mutation | | c.1631N>T | p.Ser544Phe | p.S544F | P20908 | protein_coding | deleterious(0) | possibly_damaging(0.466) | TCGA-DG-A2KK-01 | Cervix | cervical & endocervical cancer | Female | <65 | III/IV | Chemotherapy | cisplatin | SD |
COL5A1 | SNV | Missense_Mutation | rs371361067 | c.3535N>T | p.Pro1179Ser | p.P1179S | P20908 | protein_coding | deleterious(0.04) | benign(0.113) | TCGA-DG-A2KK-01 | Cervix | cervical & endocervical cancer | Female | <65 | III/IV | Chemotherapy | cisplatin | SD |
COL5A1 | SNV | Missense_Mutation | | c.5422N>A | p.Glu1808Lys | p.E1808K | P20908 | protein_coding | deleterious(0.02) | benign(0.266) | TCGA-DS-A0VM-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | PD |
COL5A1 | SNV | Missense_Mutation | | c.3994N>A | p.Asp1332Asn | p.D1332N | P20908 | protein_coding | deleterious(0.02) | probably_damaging(0.989) | TCGA-EK-A3GN-01 | Cervix | cervical & endocervical cancer | Female | <65 | III/IV | Unknown | Unknown | SD |
COL5A1 | SNV | Missense_Mutation | rs201997623 | c.404N>T | p.Ser135Phe | p.S135F | P20908 | protein_coding | deleterious(0) | probably_damaging(0.929) | TCGA-HM-A4S6-01 | Cervix | cervical & endocervical cancer | Female | <65 | III/IV | Chemotherapy | cisplatin | CR |
COL5A1 | SNV | Missense_Mutation | | c.2940N>C | p.Gln980His | p.Q980H | P20908 | protein_coding | deleterious(0) | probably_damaging(0.979) | TCGA-IR-A3LH-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
COL5A1 | SNV | Missense_Mutation | | c.1151C>G | p.Ser384Cys | p.S384C | P20908 | protein_coding | tolerated(0.08) | benign(0.112) | TCGA-IR-A3LK-01 | Cervix | cervical & endocervical cancer | Female | >=65 | I/II | Chemotherapy | cisplatin | PD |