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:007167513 | Endometrium | EEC | regulation of mononuclear cell migration | 24/2168 | 115/18723 | 2.89e-03 | 2.04e-02 | 24 |
GO:005165013 | Endometrium | EEC | establishment of vesicle localization | 31/2168 | 161/18723 | 2.99e-03 | 2.10e-02 | 31 |
GO:007050713 | Endometrium | EEC | regulation of microtubule cytoskeleton organization | 29/2168 | 148/18723 | 3.07e-03 | 2.13e-02 | 29 |
GO:003111613 | Endometrium | EEC | positive regulation of microtubule polymerization | 10/2168 | 33/18723 | 3.18e-03 | 2.17e-02 | 10 |
GO:190188812 | Endometrium | EEC | regulation of cell junction assembly | 37/2168 | 204/18723 | 3.70e-03 | 2.48e-02 | 37 |
GO:004668315 | Endometrium | EEC | response to organophosphorus | 26/2168 | 131/18723 | 4.09e-03 | 2.69e-02 | 26 |
GO:000690312 | Endometrium | EEC | vesicle targeting | 12/2168 | 45/18723 | 4.18e-03 | 2.73e-02 | 12 |
GO:004513711 | Endometrium | EEC | development of primary sexual characteristics | 40/2168 | 227/18723 | 4.43e-03 | 2.86e-02 | 40 |
GO:000201111 | Endometrium | EEC | morphogenesis of an epithelial sheet | 14/2168 | 57/18723 | 4.65e-03 | 2.97e-02 | 14 |
GO:006100511 | Endometrium | EEC | cell differentiation involved in kidney development | 14/2168 | 57/18723 | 4.65e-03 | 2.97e-02 | 14 |
GO:000840611 | Endometrium | EEC | gonad development | 39/2168 | 221/18723 | 4.78e-03 | 3.02e-02 | 39 |
GO:003223211 | Endometrium | EEC | negative regulation of actin filament bundle assembly | 10/2168 | 35/18723 | 5.09e-03 | 3.20e-02 | 10 |
GO:004863912 | Endometrium | EEC | positive regulation of developmental growth | 32/2168 | 174/18723 | 5.35e-03 | 3.31e-02 | 32 |
GO:003367314 | Endometrium | EEC | negative regulation of kinase activity | 41/2168 | 237/18723 | 5.55e-03 | 3.36e-02 | 41 |
GO:000931413 | Endometrium | EEC | response to radiation | 71/2168 | 456/18723 | 5.69e-03 | 3.42e-02 | 71 |
GO:004592714 | Endometrium | EEC | positive regulation of growth | 44/2168 | 259/18723 | 5.85e-03 | 3.50e-02 | 44 |
GO:001407415 | Endometrium | EEC | response to purine-containing compound | 28/2168 | 148/18723 | 5.93e-03 | 3.54e-02 | 28 |
GO:00716746 | Endometrium | EEC | mononuclear cell migration | 35/2168 | 196/18723 | 6.00e-03 | 3.57e-02 | 35 |
GO:006054112 | Endometrium | EEC | respiratory system development | 36/2168 | 203/18723 | 6.02e-03 | 3.57e-02 | 36 |
GO:003585011 | Endometrium | EEC | epithelial cell differentiation involved in kidney development | 12/2168 | 47/18723 | 6.10e-03 | 3.60e-02 | 12 |
Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
hsa05016210 | Esophagus | ESCC | Huntington disease | 226/4205 | 306/8465 | 1.38e-18 | 8.72e-17 | 4.46e-17 | 226 |
hsa05415211 | Esophagus | ESCC | Diabetic cardiomyopathy | 146/4205 | 203/8465 | 5.81e-11 | 7.78e-10 | 3.99e-10 | 146 |
hsa05163210 | Esophagus | ESCC | Human cytomegalovirus infection | 148/4205 | 225/8465 | 5.73e-07 | 4.00e-06 | 2.05e-06 | 148 |
hsa04137210 | Esophagus | ESCC | Mitophagy - animal | 54/4205 | 72/8465 | 9.33e-06 | 4.96e-05 | 2.54e-05 | 54 |
hsa0501728 | Esophagus | ESCC | Spinocerebellar ataxia | 94/4205 | 143/8465 | 6.77e-05 | 2.90e-04 | 1.48e-04 | 94 |
hsa043507 | Esophagus | ESCC | TGF-beta signaling pathway | 69/4205 | 108/8465 | 1.92e-03 | 5.54e-03 | 2.84e-03 | 69 |
hsa052028 | Esophagus | ESCC | Transcriptional misregulation in cancer | 116/4205 | 193/8465 | 2.08e-03 | 5.95e-03 | 3.05e-03 | 116 |
hsa015227 | Esophagus | ESCC | Endocrine resistance | 63/4205 | 98/8465 | 2.38e-03 | 6.58e-03 | 3.37e-03 | 63 |
hsa0492816 | Esophagus | ESCC | Parathyroid hormone synthesis, secretion and action | 66/4205 | 106/8465 | 5.86e-03 | 1.47e-02 | 7.51e-03 | 66 |
hsa052319 | Esophagus | ESCC | Choline metabolism in cancer | 61/4205 | 98/8465 | 7.97e-03 | 1.92e-02 | 9.84e-03 | 61 |
hsa0501638 | Esophagus | ESCC | Huntington disease | 226/4205 | 306/8465 | 1.38e-18 | 8.72e-17 | 4.46e-17 | 226 |
hsa0541538 | Esophagus | ESCC | Diabetic cardiomyopathy | 146/4205 | 203/8465 | 5.81e-11 | 7.78e-10 | 3.99e-10 | 146 |
hsa0516338 | Esophagus | ESCC | Human cytomegalovirus infection | 148/4205 | 225/8465 | 5.73e-07 | 4.00e-06 | 2.05e-06 | 148 |
hsa0413738 | Esophagus | ESCC | Mitophagy - animal | 54/4205 | 72/8465 | 9.33e-06 | 4.96e-05 | 2.54e-05 | 54 |
hsa0501736 | Esophagus | ESCC | Spinocerebellar ataxia | 94/4205 | 143/8465 | 6.77e-05 | 2.90e-04 | 1.48e-04 | 94 |
hsa0435014 | Esophagus | ESCC | TGF-beta signaling pathway | 69/4205 | 108/8465 | 1.92e-03 | 5.54e-03 | 2.84e-03 | 69 |
hsa0520213 | Esophagus | ESCC | Transcriptional misregulation in cancer | 116/4205 | 193/8465 | 2.08e-03 | 5.95e-03 | 3.05e-03 | 116 |
hsa0152215 | Esophagus | ESCC | Endocrine resistance | 63/4205 | 98/8465 | 2.38e-03 | 6.58e-03 | 3.37e-03 | 63 |
hsa0492817 | Esophagus | ESCC | Parathyroid hormone synthesis, secretion and action | 66/4205 | 106/8465 | 5.86e-03 | 1.47e-02 | 7.51e-03 | 66 |
hsa0523114 | Esophagus | ESCC | Choline metabolism in cancer | 61/4205 | 98/8465 | 7.97e-03 | 1.92e-02 | 9.84e-03 | 61 |
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 |
SP1 | SNV | Missense_Mutation | rs775622089 | c.314A>G | p.Asn105Ser | p.N105S | P08047 | protein_coding | deleterious(0.01) | probably_damaging(0.968) | TCGA-AN-A0AR-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
SP1 | SNV | Missense_Mutation | | c.49N>T | p.Ile17Phe | p.I17F | P08047 | protein_coding | tolerated_low_confidence(0.08) | benign(0.227) | TCGA-AN-A0FJ-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
SP1 | SNV | Missense_Mutation | | c.1262N>T | p.Ser421Leu | p.S421L | P08047 | protein_coding | deleterious(0.01) | possibly_damaging(0.587) | TCGA-BH-A0HF-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | arimidex | SD |
SP1 | SNV | Missense_Mutation | | c.1997N>A | p.Arg666His | p.R666H | P08047 | protein_coding | deleterious(0) | probably_damaging(0.991) | TCGA-BH-A18G-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
SP1 | SNV | Missense_Mutation | | c.202T>C | p.Cys68Arg | p.C68R | P08047 | protein_coding | deleterious(0) | probably_damaging(0.99) | TCGA-EW-A1IZ-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | taxotere | SD |
SP1 | SNV | Missense_Mutation | novel | c.407N>G | p.Ser136Cys | p.S136C | P08047 | protein_coding | deleterious(0.01) | possibly_damaging(0.648) | TCGA-GM-A3XL-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | fluorouracil | CR |
SP1 | insertion | Nonsense_Mutation | novel | c.1611_1612insCCAGTTTTATTTTGATTGTTTTCTTTGGAA | p.Leu537_Gly538insProValLeuPheTerLeuPheSerLeuGlu | p.L537_G538insPVLF*LFSLE | P08047 | protein_coding | | | TCGA-A7-A0DA-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | SD |
SP1 | SNV | Missense_Mutation | | c.2022N>C | p.Gln674His | p.Q674H | P08047 | protein_coding | deleterious(0) | probably_damaging(0.996) | TCGA-C5-A1BQ-01 | Cervix | cervical & endocervical cancer | Female | >=65 | III/IV | Chemotherapy | cisplatin | CR |
SP1 | SNV | Missense_Mutation | | c.2022N>C | p.Gln674His | p.Q674H | P08047 | protein_coding | deleterious(0) | probably_damaging(0.996) | TCGA-C5-A3HL-01 | Cervix | cervical & endocervical cancer | Female | >=65 | I/II | Unknown | Unknown | SD |
SP1 | SNV | Missense_Mutation | novel | c.2009N>T | p.Ser670Leu | p.S670L | P08047 | protein_coding | deleterious(0) | probably_damaging(0.982) | TCGA-DS-A1OB-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | carboplatin | PD |