Tissue | Expression Dynamics | Abbreviation |
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 |
Prostate | | BPH: Benign Prostatic Hyperplasia |
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: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: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: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: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:00074925 | Oral cavity | OSCC | endoderm development | 47/7305 | 77/18723 | 7.40e-05 | 5.81e-04 | 47 |
GO:00017063 | Oral cavity | OSCC | endoderm formation | 34/7305 | 54/18723 | 3.12e-04 | 1.94e-03 | 34 |
GO:00073697 | Oral cavity | OSCC | gastrulation | 95/7305 | 185/18723 | 4.17e-04 | 2.54e-03 | 95 |
GO:00301983 | Oral cavity | OSCC | extracellular matrix organization | 146/7305 | 301/18723 | 4.67e-04 | 2.77e-03 | 146 |
GO:00452293 | Oral cavity | OSCC | external encapsulating structure organization | 147/7305 | 304/18723 | 5.30e-04 | 3.08e-03 | 147 |
GO:00430623 | Oral cavity | OSCC | extracellular structure organization | 146/7305 | 302/18723 | 5.59e-04 | 3.23e-03 | 146 |
GO:00017043 | Oral cavity | OSCC | formation of primary germ layer | 65/7305 | 121/18723 | 7.08e-04 | 3.90e-03 | 65 |
GO:00359872 | Oral cavity | OSCC | endodermal cell differentiation | 28/7305 | 45/18723 | 1.36e-03 | 6.62e-03 | 28 |
GO:00301982 | Oral cavity | NEOLP | extracellular matrix organization | 64/2005 | 301/18723 | 5.66e-08 | 2.24e-06 | 64 |
GO:00430622 | Oral cavity | NEOLP | extracellular structure organization | 64/2005 | 302/18723 | 6.44e-08 | 2.50e-06 | 64 |
GO:00452292 | Oral cavity | NEOLP | external encapsulating structure organization | 64/2005 | 304/18723 | 8.33e-08 | 3.17e-06 | 64 |
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 |
COL12A1 | SNV | Missense_Mutation | | c.8906N>A | p.Gly2969Asp | p.G2969D | Q99715 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-AP-A0LM-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | cisplatin | SD |
COL12A1 | SNV | Missense_Mutation | | c.5896N>A | p.Val1966Ile | p.V1966I | Q99715 | protein_coding | tolerated(0.49) | benign(0.012) | TCGA-AP-A0LM-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | cisplatin | SD |
COL12A1 | SNV | Missense_Mutation | | c.3841N>A | p.Ala1281Thr | p.A1281T | Q99715 | protein_coding | deleterious(0.02) | probably_damaging(0.999) | TCGA-AP-A0LM-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | cisplatin | SD |
COL12A1 | SNV | Missense_Mutation | | c.3146N>T | p.Ser1049Leu | p.S1049L | Q99715 | protein_coding | deleterious(0) | possibly_damaging(0.636) | TCGA-AP-A0LM-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | cisplatin | SD |
COL12A1 | SNV | Missense_Mutation | novel | c.8032N>A | p.Gly2678Arg | p.G2678R | Q99715 | protein_coding | deleterious(0) | probably_damaging(0.972) | TCGA-AP-A1DK-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
COL12A1 | SNV | Missense_Mutation | novel | c.7543N>A | p.Gly2515Ser | p.G2515S | Q99715 | protein_coding | deleterious(0.04) | probably_damaging(0.998) | TCGA-AP-A1DK-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
COL12A1 | SNV | Missense_Mutation | novel | c.1954N>C | p.Trp652Arg | p.W652R | Q99715 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-AP-A1DK-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
COL12A1 | SNV | Missense_Mutation | | c.946N>A | p.Val316Met | p.V316M | Q99715 | protein_coding | tolerated(0.14) | possibly_damaging(0.888) | TCGA-AP-A1DK-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
COL12A1 | SNV | Missense_Mutation | rs752206319 | c.8813G>A | p.Arg2938His | p.R2938H | Q99715 | protein_coding | deleterious(0.02) | probably_damaging(0.998) | TCGA-AP-A1DV-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
COL12A1 | SNV | Missense_Mutation | novel | c.1856G>T | p.Arg619Ile | p.R619I | Q99715 | protein_coding | deleterious(0.01) | probably_damaging(0.996) | TCGA-AP-A1DV-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |