Tissue | Expression Dynamics | Abbreviation |
Cervix | | CC: Cervix cancer |
HSIL_HPV: HPV-infected high-grade squamous intraepithelial lesions |
N_HPV: HPV-infected normal cervix |
Endometrium | | AEH: Atypical endometrial hyperplasia |
EEC: Endometrioid Cancer |
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 |
Skin | | AK: Actinic keratosis |
cSCC: Cutaneous squamous cell carcinoma |
SCCIS:squamous cell carcinoma in situ |
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:0070997113 | Thyroid | PTC | neuron death | 171/5968 | 361/18723 | 4.32e-10 | 1.38e-08 | 171 |
GO:1901214113 | Thyroid | PTC | regulation of neuron death | 151/5968 | 319/18723 | 4.74e-09 | 1.24e-07 | 151 |
GO:0042060112 | Thyroid | PTC | wound healing | 190/5968 | 422/18723 | 7.72e-09 | 1.92e-07 | 190 |
GO:190547525 | Thyroid | PTC | regulation of protein localization to membrane | 91/5968 | 175/18723 | 2.41e-08 | 5.43e-07 | 91 |
GO:0009314111 | Thyroid | PTC | response to radiation | 195/5968 | 456/18723 | 5.10e-07 | 8.27e-06 | 195 |
GO:0048872113 | Thyroid | PTC | homeostasis of number of cells | 125/5968 | 272/18723 | 7.25e-07 | 1.14e-05 | 125 |
GO:0002262113 | Thyroid | PTC | myeloid cell homeostasis | 79/5968 | 157/18723 | 1.11e-06 | 1.64e-05 | 79 |
GO:190121518 | Thyroid | PTC | negative regulation of neuron death | 95/5968 | 208/18723 | 2.01e-05 | 2.04e-04 | 95 |
GO:0009636111 | Thyroid | PTC | response to toxic substance | 115/5968 | 262/18723 | 2.70e-05 | 2.63e-04 | 115 |
GO:0034109112 | Thyroid | PTC | homotypic cell-cell adhesion | 47/5968 | 90/18723 | 4.81e-05 | 4.31e-04 | 47 |
GO:000657513 | Thyroid | PTC | cellular modified amino acid metabolic process | 85/5968 | 188/18723 | 8.29e-05 | 7.01e-04 | 85 |
GO:00991738 | Thyroid | PTC | postsynapse organization | 77/5968 | 168/18723 | 1.01e-04 | 8.25e-04 | 77 |
GO:0045785112 | Thyroid | PTC | positive regulation of cell adhesion | 176/5968 | 437/18723 | 1.10e-04 | 8.83e-04 | 176 |
GO:0036473112 | Thyroid | PTC | cell death in response to oxidative stress | 47/5968 | 95/18723 | 2.60e-04 | 1.86e-03 | 47 |
GO:003032317 | Thyroid | PTC | respiratory tube development | 80/5968 | 181/18723 | 3.23e-04 | 2.23e-03 | 80 |
GO:003032419 | Thyroid | PTC | lung development | 77/5968 | 177/18723 | 7.33e-04 | 4.58e-03 | 77 |
GO:006054115 | Thyroid | PTC | respiratory system development | 86/5968 | 203/18723 | 1.02e-03 | 6.08e-03 | 86 |
GO:00517753 | Thyroid | PTC | response to redox state | 11/5968 | 15/18723 | 1.19e-03 | 6.84e-03 | 11 |
GO:004239813 | Thyroid | PTC | cellular modified amino acid biosynthetic process | 25/5968 | 46/18723 | 1.31e-03 | 7.43e-03 | 25 |
GO:00094167 | Thyroid | PTC | response to light stimulus | 127/5968 | 320/18723 | 1.76e-03 | 9.58e-03 | 127 |
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 |
SLC7A1 | SNV | Missense_Mutation | | c.623N>A | p.Gly208Glu | p.G208E | P30825 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-A8-A0A7-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
SLC7A1 | insertion | Nonsense_Mutation | novel | c.1165_1166insTTTAAATTTGTTTTAGTTGCAGTGATCTAGAGGGGCTTGA | p.Thr389IlefsTer2 | p.T389Ifs*2 | P30825 | protein_coding | | | TCGA-A8-A08H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
SLC7A1 | insertion | Frame_Shift_Ins | novel | c.1601_1602insTAAAT | p.Ser535LysfsTer37 | p.S535Kfs*37 | P30825 | protein_coding | | | TCGA-B6-A0IK-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Unknown | Unknown | PD |
SLC7A1 | insertion | In_Frame_Ins | novel | c.1600_1601insTCCCTCCGGGGTGGTGGGATGCTTCTC | p.Gly534delinsValProProGlyTrpTrpAspAlaSerArg | p.G534delinsVPPGWWDASR | P30825 | protein_coding | | | TCGA-B6-A0IK-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Unknown | Unknown | PD |
SLC7A1 | insertion | In_Frame_Ins | novel | c.373_374insAAACGATGAGAGGCGTCCATGGCAGAGCAGTGGTCT | p.Thr125delinsLysThrMetArgGlyValHisGlyArgAlaValValSer | p.T125delinsKTMRGVHGRAVVS | P30825 | protein_coding | | | TCGA-BH-A0EB-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | arimidex | SD |
SLC7A1 | SNV | Missense_Mutation | novel | c.874G>A | p.Ala292Thr | p.A292T | P30825 | protein_coding | tolerated(0.29) | possibly_damaging(0.555) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
SLC7A1 | SNV | Missense_Mutation | | c.308N>C | p.Val103Ala | p.V103A | P30825 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-FU-A3HZ-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
SLC7A1 | SNV | Missense_Mutation | rs767310993 | c.817N>A | p.Ala273Thr | p.A273T | P30825 | protein_coding | deleterious(0.01) | probably_damaging(0.981) | TCGA-VS-A94Z-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
SLC7A1 | SNV | Missense_Mutation | rs548607156 | c.1633N>A | p.Val545Ile | p.V545I | P30825 | protein_coding | tolerated(1) | benign(0) | TCGA-WL-A834-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | paclitaxel | SD |
SLC7A1 | SNV | Missense_Mutation | | c.44G>A | p.Arg15Gln | p.R15Q | P30825 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-A6-3810-01 | Colorectum | colon adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | SD |