Tissue | Expression Dynamics | Abbreviation |
Cervix | | CC: Cervix cancer |
HSIL_HPV: HPV-infected high-grade squamous intraepithelial lesions |
N_HPV: HPV-infected normal cervix |
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 |
Lung | | AAH: Atypical adenomatous hyperplasia |
AIS: Adenocarcinoma in situ |
IAC: Invasive lung adenocarcinoma |
MIA: Minimally invasive adenocarcinoma |
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:00196939 | Cervix | CC | ribose phosphate metabolic process | 72/2311 | 396/18723 | 4.49e-04 | 4.48e-03 | 72 |
GO:00092599 | Cervix | CC | ribonucleotide metabolic process | 70/2311 | 385/18723 | 5.35e-04 | 5.18e-03 | 70 |
GO:000915010 | Cervix | CC | purine ribonucleotide metabolic process | 66/2311 | 368/18723 | 1.09e-03 | 9.07e-03 | 66 |
GO:000616310 | Cervix | CC | purine nucleotide metabolic process | 67/2311 | 396/18723 | 4.41e-03 | 2.69e-02 | 67 |
GO:007252110 | Cervix | CC | purine-containing compound metabolic process | 69/2311 | 416/18723 | 6.27e-03 | 3.54e-02 | 69 |
GO:000911710 | Cervix | CC | nucleotide metabolic process | 79/2311 | 489/18723 | 7.16e-03 | 3.85e-02 | 79 |
GO:0006753110 | Esophagus | ESCC | nucleoside phosphate metabolic process | 288/8552 | 497/18723 | 1.80e-08 | 3.50e-07 | 288 |
GO:0019693111 | Esophagus | ESCC | ribose phosphate metabolic process | 234/8552 | 396/18723 | 4.24e-08 | 7.76e-07 | 234 |
GO:0009117111 | Esophagus | ESCC | nucleotide metabolic process | 282/8552 | 489/18723 | 4.70e-08 | 8.50e-07 | 282 |
GO:00067906 | Esophagus | ESCC | sulfur compound metabolic process | 201/8552 | 339/18723 | 2.64e-07 | 3.94e-06 | 201 |
GO:0009259111 | Esophagus | ESCC | ribonucleotide metabolic process | 224/8552 | 385/18723 | 4.41e-07 | 6.00e-06 | 224 |
GO:0072521111 | Esophagus | ESCC | purine-containing compound metabolic process | 238/8552 | 416/18723 | 1.20e-06 | 1.49e-05 | 238 |
GO:0009150111 | Esophagus | ESCC | purine ribonucleotide metabolic process | 213/8552 | 368/18723 | 1.40e-06 | 1.69e-05 | 213 |
GO:0006163111 | Esophagus | ESCC | purine nucleotide metabolic process | 226/8552 | 396/18723 | 2.81e-06 | 3.21e-05 | 226 |
GO:00338655 | Esophagus | ESCC | nucleoside bisphosphate metabolic process | 77/8552 | 128/18723 | 6.71e-04 | 3.55e-03 | 77 |
GO:00338755 | Esophagus | ESCC | ribonucleoside bisphosphate metabolic process | 77/8552 | 128/18723 | 6.71e-04 | 3.55e-03 | 77 |
GO:00340325 | Esophagus | ESCC | purine nucleoside bisphosphate metabolic process | 77/8552 | 128/18723 | 6.71e-04 | 3.55e-03 | 77 |
GO:00182124 | Esophagus | ESCC | peptidyl-tyrosine modification | 202/8552 | 378/18723 | 1.34e-03 | 6.39e-03 | 202 |
GO:00092596 | Liver | NAFLD | ribonucleotide metabolic process | 72/1882 | 385/18723 | 1.51e-07 | 1.09e-05 | 72 |
GO:00196936 | Liver | NAFLD | ribose phosphate metabolic process | 73/1882 | 396/18723 | 2.23e-07 | 1.53e-05 | 73 |
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 |
TPST1 | SNV | Missense_Mutation | novel | c.862G>C | p.Asp288His | p.D288H | O60507 | protein_coding | deleterious(0) | probably_damaging(0.933) | TCGA-A2-A4RW-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
TPST1 | SNV | Missense_Mutation | novel | c.896N>C | p.Leu299Pro | p.L299P | O60507 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-D8-A1Y0-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Chemotherapy | cyclophosphamide+methotrexatum+fluorouracillum | SD |
TPST1 | SNV | Missense_Mutation | novel | c.97C>T | p.His33Tyr | p.H33Y | O60507 | protein_coding | tolerated_low_confidence(0.88) | benign(0.067) | TCGA-PE-A5DE-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | taxotere | CR |
TPST1 | insertion | Frame_Shift_Ins | novel | c.830_831insGCCTTCCTGTATTATGGAGGGTAATCCACTTTACT | p.Val278ProfsTer12 | p.V278Pfs*12 | O60507 | protein_coding | | | TCGA-AO-A03T-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cyclophosphamide | SD |
TPST1 | SNV | Missense_Mutation | | c.1099N>A | p.Glu367Lys | p.E367K | O60507 | protein_coding | tolerated_low_confidence(0.81) | benign(0) | TCGA-JW-A5VL-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
TPST1 | SNV | Missense_Mutation | rs752674832 | c.202G>T | p.Asp68Tyr | p.D68Y | O60507 | protein_coding | tolerated(0.22) | benign(0.009) | TCGA-AA-3977-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD |
TPST1 | SNV | Missense_Mutation | novel | c.226N>T | p.Gly76Cys | p.G76C | O60507 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-AA-A01D-01 | Colorectum | colon adenocarcinoma | Female | <65 | III/IV | Chemotherapy | capecitabine | PD |
TPST1 | SNV | Missense_Mutation | | c.17N>C | p.Lys6Thr | p.K6T | O60507 | protein_coding | tolerated_low_confidence(0.07) | possibly_damaging(0.731) | TCGA-AM-5821-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
TPST1 | SNV | Missense_Mutation | rs866156741 | c.101N>A | p.Arg34Gln | p.R34Q | O60507 | protein_coding | tolerated_low_confidence(0.53) | benign(0.277) | TCGA-D5-6530-01 | Colorectum | colon adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | SD |
TPST1 | SNV | Missense_Mutation | | c.83C>T | p.Ala28Val | p.A28V | O60507 | protein_coding | tolerated_low_confidence(0.73) | benign(0.015) | TCGA-D5-6928-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD |