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 |
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:003304416 | Esophagus | ESCC | regulation of chromosome organization | 145/8552 | 187/18723 | 3.80e-19 | 4.31e-17 | 145 |
GO:005105215 | Esophagus | ESCC | regulation of DNA metabolic process | 232/8552 | 359/18723 | 2.40e-13 | 1.13e-11 | 232 |
GO:000072319 | Esophagus | ESCC | telomere maintenance | 99/8552 | 131/18723 | 2.68e-12 | 1.08e-10 | 99 |
GO:003220417 | Esophagus | ESCC | regulation of telomere maintenance | 65/8552 | 80/18723 | 6.02e-11 | 1.90e-09 | 65 |
GO:003220014 | Esophagus | ESCC | telomere organization | 99/8552 | 159/18723 | 1.77e-05 | 1.57e-04 | 99 |
GO:00330444 | Liver | NAFLD | regulation of chromosome organization | 34/1882 | 187/18723 | 4.69e-04 | 6.74e-03 | 34 |
GO:00510526 | Liver | NAFLD | regulation of DNA metabolic process | 56/1882 | 359/18723 | 5.95e-04 | 7.92e-03 | 56 |
GO:003304421 | Liver | HCC | regulation of chromosome organization | 125/7958 | 187/18723 | 1.35e-11 | 5.40e-10 | 125 |
GO:000072311 | Liver | HCC | telomere maintenance | 85/7958 | 131/18723 | 1.86e-07 | 3.40e-06 | 85 |
GO:005105221 | Liver | HCC | regulation of DNA metabolic process | 198/7958 | 359/18723 | 7.62e-07 | 1.17e-05 | 198 |
GO:003220411 | Liver | HCC | regulation of telomere maintenance | 55/7958 | 80/18723 | 1.83e-06 | 2.54e-05 | 55 |
GO:00322001 | Liver | HCC | telomere organization | 86/7958 | 159/18723 | 2.06e-03 | 1.04e-02 | 86 |
GO:00330448 | Oral cavity | OSCC | regulation of chromosome organization | 123/7305 | 187/18723 | 9.87e-14 | 5.17e-12 | 123 |
GO:005105210 | Oral cavity | OSCC | regulation of DNA metabolic process | 207/7305 | 359/18723 | 4.45e-13 | 2.17e-11 | 207 |
GO:000072316 | Oral cavity | OSCC | telomere maintenance | 85/7305 | 131/18723 | 1.72e-09 | 4.09e-08 | 85 |
GO:003220410 | Oral cavity | OSCC | regulation of telomere maintenance | 55/7305 | 80/18723 | 6.67e-08 | 1.19e-06 | 55 |
GO:00322006 | Oral cavity | OSCC | telomere organization | 85/7305 | 159/18723 | 1.47e-04 | 1.04e-03 | 85 |
GO:003304422 | Oral cavity | EOLP | regulation of chromosome organization | 50/2218 | 187/18723 | 1.80e-08 | 7.94e-07 | 50 |
GO:005105222 | Oral cavity | EOLP | regulation of DNA metabolic process | 75/2218 | 359/18723 | 5.81e-07 | 1.53e-05 | 75 |
GO:000072322 | Oral cavity | EOLP | telomere maintenance | 36/2218 | 131/18723 | 8.39e-07 | 2.10e-05 | 36 |
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 |
YLPM1 | SNV | Missense_Mutation | novel | c.3206N>A | p.Arg1069Gln | p.R1069Q | P49750 | protein_coding | tolerated_low_confidence(0.1) | benign(0.005) | TCGA-EO-A22U-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
YLPM1 | SNV | Missense_Mutation | | c.434N>T | p.Ser145Phe | p.S145F | P49750 | protein_coding | deleterious_low_confidence(0) | possibly_damaging(0.736) | TCGA-EO-A22X-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unspecific | Carboplatin | Complete Response |
YLPM1 | SNV | Missense_Mutation | novel | c.1178N>C | p.His393Pro | p.H393P | P49750 | protein_coding | deleterious_low_confidence(0.05) | possibly_damaging(0.447) | TCGA-EO-A3B0-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
YLPM1 | SNV | Missense_Mutation | novel | c.3203G>A | p.Ser1068Asn | p.S1068N | P49750 | protein_coding | tolerated_low_confidence(0.08) | benign(0.423) | TCGA-EY-A215-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
YLPM1 | SNV | Missense_Mutation | novel | c.4844C>A | p.Ser1615Tyr | p.S1615Y | P49750 | protein_coding | tolerated_low_confidence(0.2) | benign(0.173) | TCGA-EY-A215-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
YLPM1 | SNV | Missense_Mutation | novel | c.6002N>A | p.Ser2001Tyr | p.S2001Y | P49750 | protein_coding | deleterious(0) | probably_damaging(0.984) | TCGA-FI-A2D5-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | carboplatinum | PD |
YLPM1 | SNV | Missense_Mutation | rs756217023 | c.6202N>T | p.Arg2068Cys | p.R2068C | P49750 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-FI-A2D5-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | carboplatinum | PD |
YLPM1 | deletion | Frame_Shift_Del | | c.3533delN | p.Met1180CysfsTer27 | p.M1180Cfs*27 | P49750 | protein_coding | | | TCGA-AJ-A3BG-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Chemotherapy | carboplatin | PD |
YLPM1 | insertion | In_Frame_Ins | novel | c.5785_5786insGTGATGAAG | p.Ile1929delinsSerAspGluVal | p.I1929delinsSDEV | P49750 | protein_coding | | | TCGA-BG-A0MU-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | III/IV | Hormone Therapy | megace | SD |
YLPM1 | deletion | Frame_Shift_Del | | c.755delN | p.Pro254LeufsTer35 | p.P254Lfs*35 | P49750 | protein_coding | | | TCGA-BG-A2L7-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Chemotherapy | carboplatin | CR |