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 |
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:001623616 | Esophagus | HGIN | macroautophagy | 77/2587 | 291/18723 | 7.15e-09 | 4.61e-07 | 77 |
GO:005165616 | Esophagus | HGIN | establishment of organelle localization | 90/2587 | 390/18723 | 4.27e-07 | 1.94e-05 | 90 |
GO:190260017 | Esophagus | HGIN | proton transmembrane transport | 43/2587 | 157/18723 | 5.51e-06 | 1.75e-04 | 43 |
GO:003009927 | Esophagus | HGIN | myeloid cell differentiation | 83/2587 | 381/18723 | 1.26e-05 | 3.52e-04 | 83 |
GO:00070336 | Esophagus | HGIN | vacuole organization | 44/2587 | 180/18723 | 8.97e-05 | 1.96e-03 | 44 |
GO:19050375 | Esophagus | HGIN | autophagosome organization | 28/2587 | 103/18723 | 2.58e-04 | 4.53e-03 | 28 |
GO:000164917 | Esophagus | HGIN | osteoblast differentiation | 50/2587 | 229/18723 | 5.88e-04 | 8.30e-03 | 50 |
GO:00000455 | Esophagus | HGIN | autophagosome assembly | 26/2587 | 99/18723 | 7.45e-04 | 9.90e-03 | 26 |
GO:00101557 | Esophagus | HGIN | regulation of proton transport | 10/2587 | 24/18723 | 7.66e-04 | 1.00e-02 | 10 |
GO:000257316 | Esophagus | HGIN | myeloid leukocyte differentiation | 45/2587 | 208/18723 | 1.31e-03 | 1.56e-02 | 45 |
GO:004887227 | Esophagus | HGIN | homeostasis of number of cells | 54/2587 | 272/18723 | 3.50e-03 | 3.23e-02 | 54 |
GO:005165010 | Esophagus | HGIN | establishment of vesicle localization | 35/2587 | 161/18723 | 3.89e-03 | 3.54e-02 | 35 |
GO:000150316 | Esophagus | HGIN | ossification | 75/2587 | 408/18723 | 5.49e-03 | 4.49e-02 | 75 |
GO:005164810 | Esophagus | HGIN | vesicle localization | 37/2587 | 177/18723 | 6.03e-03 | 4.87e-02 | 37 |
GO:001623617 | Esophagus | ESCC | macroautophagy | 216/8552 | 291/18723 | 1.94e-23 | 4.57e-21 | 216 |
GO:005165617 | Esophagus | ESCC | establishment of organelle localization | 273/8552 | 390/18723 | 9.13e-23 | 1.81e-20 | 273 |
GO:000703314 | Esophagus | ESCC | vacuole organization | 127/8552 | 180/18723 | 1.04e-11 | 3.85e-10 | 127 |
GO:005165016 | Esophagus | ESCC | establishment of vesicle localization | 114/8552 | 161/18723 | 8.20e-11 | 2.53e-09 | 114 |
GO:0030099111 | Esophagus | ESCC | myeloid cell differentiation | 232/8552 | 381/18723 | 1.22e-09 | 2.90e-08 | 232 |
GO:000716320 | Esophagus | ESCC | establishment or maintenance of cell polarity | 143/8552 | 218/18723 | 2.05e-09 | 4.65e-08 | 143 |
Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
hsa0019030 | Esophagus | HGIN | Oxidative phosphorylation | 68/1383 | 134/8465 | 1.73e-20 | 8.07e-19 | 6.41e-19 | 68 |
hsa041426 | Esophagus | HGIN | Lysosome | 33/1383 | 132/8465 | 6.65e-03 | 4.37e-02 | 3.47e-02 | 33 |
hsa00190113 | Esophagus | HGIN | Oxidative phosphorylation | 68/1383 | 134/8465 | 1.73e-20 | 8.07e-19 | 6.41e-19 | 68 |
hsa0414213 | Esophagus | HGIN | Lysosome | 33/1383 | 132/8465 | 6.65e-03 | 4.37e-02 | 3.47e-02 | 33 |
hsa00190210 | Esophagus | ESCC | Oxidative phosphorylation | 104/4205 | 134/8465 | 2.04e-11 | 2.98e-10 | 1.53e-10 | 104 |
hsa0414222 | Esophagus | ESCC | Lysosome | 102/4205 | 132/8465 | 5.11e-11 | 7.13e-10 | 3.65e-10 | 102 |
hsa0516510 | Esophagus | ESCC | Human papillomavirus infection | 215/4205 | 331/8465 | 7.86e-09 | 7.12e-08 | 3.65e-08 | 215 |
hsa0512018 | Esophagus | ESCC | Epithelial cell signaling in Helicobacter pylori infection | 52/4205 | 70/8465 | 2.17e-05 | 1.07e-04 | 5.47e-05 | 52 |
hsa0414530 | Esophagus | ESCC | Phagosome | 100/4205 | 152/8465 | 3.81e-05 | 1.72e-04 | 8.82e-05 | 100 |
hsa051527 | Esophagus | ESCC | Tuberculosis | 111/4205 | 180/8465 | 7.14e-04 | 2.32e-03 | 1.19e-03 | 111 |
hsa0532320 | Esophagus | ESCC | Rheumatoid arthritis | 59/4205 | 93/8465 | 4.98e-03 | 1.27e-02 | 6.52e-03 | 59 |
hsa0511028 | Esophagus | ESCC | Vibrio cholerae infection | 34/4205 | 50/8465 | 6.62e-03 | 1.62e-02 | 8.30e-03 | 34 |
hsa0019038 | Esophagus | ESCC | Oxidative phosphorylation | 104/4205 | 134/8465 | 2.04e-11 | 2.98e-10 | 1.53e-10 | 104 |
hsa0414232 | Esophagus | ESCC | Lysosome | 102/4205 | 132/8465 | 5.11e-11 | 7.13e-10 | 3.65e-10 | 102 |
hsa0516515 | Esophagus | ESCC | Human papillomavirus infection | 215/4205 | 331/8465 | 7.86e-09 | 7.12e-08 | 3.65e-08 | 215 |
hsa0512019 | Esophagus | ESCC | Epithelial cell signaling in Helicobacter pylori infection | 52/4205 | 70/8465 | 2.17e-05 | 1.07e-04 | 5.47e-05 | 52 |
hsa04145114 | Esophagus | ESCC | Phagosome | 100/4205 | 152/8465 | 3.81e-05 | 1.72e-04 | 8.82e-05 | 100 |
hsa0515212 | Esophagus | ESCC | Tuberculosis | 111/4205 | 180/8465 | 7.14e-04 | 2.32e-03 | 1.19e-03 | 111 |
hsa05323110 | Esophagus | ESCC | Rheumatoid arthritis | 59/4205 | 93/8465 | 4.98e-03 | 1.27e-02 | 6.52e-03 | 59 |
hsa05110112 | Esophagus | ESCC | Vibrio cholerae infection | 34/4205 | 50/8465 | 6.62e-03 | 1.62e-02 | 8.30e-03 | 34 |
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 |
TCIRG1 | SNV | Missense_Mutation | | c.2455A>C | p.Lys819Gln | p.K819Q | Q13488 | protein_coding | tolerated(0.06) | probably_damaging(0.991) | TCGA-A2-A0T0-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | taxotere | SD |
TCIRG1 | SNV | Missense_Mutation | rs199914625 | c.1421N>T | p.Ser474Leu | p.S474L | Q13488 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-A2-A0YK-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cytoxan | SD |
TCIRG1 | insertion | Frame_Shift_Ins | novel | c.1664_1665insGATG | p.Phe555LeufsTer116 | p.F555Lfs*116 | Q13488 | protein_coding | | | TCGA-BH-A0HL-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cyclophosphamide | SD |
TCIRG1 | insertion | In_Frame_Ins | novel | c.1666_1667insTTCCTGGCCCAGCACACGATGCTT | p.Asn556delinsIleProGlyProAlaHisAspAlaTyr | p.N556delinsIPGPAHDAY | Q13488 | protein_coding | | | TCGA-BH-A0HL-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cyclophosphamide | SD |
TCIRG1 | SNV | Missense_Mutation | rs763119311 | c.1904N>T | p.Thr635Met | p.T635M | Q13488 | protein_coding | tolerated(0.1) | benign(0.017) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
TCIRG1 | SNV | Missense_Mutation | novel | c.417N>T | p.Gln139His | p.Q139H | Q13488 | protein_coding | tolerated(0.56) | benign(0.003) | TCGA-VS-A9UZ-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
TCIRG1 | SNV | Missense_Mutation | novel | c.2110G>A | p.Glu704Lys | p.E704K | Q13488 | protein_coding | tolerated(0.18) | benign(0.142) | TCGA-VS-A9V1-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | PD |
TCIRG1 | SNV | Missense_Mutation | rs752218792 | c.124N>A | p.Ala42Thr | p.A42T | Q13488 | protein_coding | deleterious(0.02) | benign(0.244) | TCGA-AA-A010-01 | Colorectum | colon adenocarcinoma | Female | <65 | I/II | Chemotherapy | folinic | CR |
TCIRG1 | SNV | Missense_Mutation | rs764312517 | c.2398N>A | p.Ala800Thr | p.A800T | Q13488 | protein_coding | tolerated(0.28) | possibly_damaging(0.811) | TCGA-AD-5900-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD |
TCIRG1 | SNV | Missense_Mutation | rs550481991 | c.2050N>A | p.Ala684Thr | p.A684T | Q13488 | protein_coding | tolerated(0.41) | benign(0.005) | TCGA-AD-6895-01 | Colorectum | colon adenocarcinoma | Male | >=65 | III/IV | Unknown | Unknown | SD |