Tissue | Expression Dynamics | Abbreviation |
Cervix | | CC: Cervix cancer |
HSIL_HPV: HPV-infected high-grade squamous intraepithelial lesions |
N_HPV: HPV-infected normal cervix |
Colorectum (GSE201348) | | FAP: Familial adenomatous polyposis |
CRC: Colorectal cancer |
Colorectum (HTA11) | | AD: Adenomas |
SER: Sessile serrated lesions |
MSI-H: Microsatellite-high colorectal cancer |
MSS: Microsatellite stable colorectal cancer |
Endometrium | | AEH: Atypical endometrial hyperplasia |
EEC: Endometrioid Cancer |
Esophagus | | ESCC: Esophageal squamous cell carcinoma |
HGIN: High-grade intraepithelial neoplasias |
LGIN: Low-grade intraepithelial neoplasias |
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 |
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:004873210 | Cervix | CC | gland development | 84/2311 | 436/18723 | 1.93e-05 | 3.54e-04 | 84 |
GO:00488634 | Cervix | CC | stem cell differentiation | 46/2311 | 206/18723 | 4.11e-05 | 6.36e-04 | 46 |
GO:00063257 | Cervix | CC | chromatin organization | 78/2311 | 409/18723 | 5.40e-05 | 8.02e-04 | 78 |
GO:00605375 | Cervix | CC | muscle tissue development | 76/2311 | 403/18723 | 9.76e-05 | 1.27e-03 | 76 |
GO:00165705 | Cervix | CC | histone modification | 84/2311 | 463/18723 | 1.70e-04 | 2.01e-03 | 84 |
GO:00147064 | Cervix | CC | striated muscle tissue development | 72/2311 | 384/18723 | 1.76e-04 | 2.07e-03 | 72 |
GO:00610089 | Cervix | CC | hepaticobiliary system development | 34/2311 | 150/18723 | 2.92e-04 | 3.14e-03 | 34 |
GO:00018899 | Cervix | CC | liver development | 33/2311 | 147/18723 | 4.27e-04 | 4.30e-03 | 33 |
GO:0033002 | Cervix | CC | muscle cell proliferation | 49/2311 | 248/18723 | 5.43e-04 | 5.24e-03 | 49 |
GO:00349685 | Cervix | CC | histone lysine methylation | 27/2311 | 115/18723 | 6.61e-04 | 6.09e-03 | 27 |
GO:00486386 | Cervix | CC | regulation of developmental growth | 61/2311 | 330/18723 | 7.69e-04 | 6.85e-03 | 61 |
GO:00310565 | Cervix | CC | regulation of histone modification | 33/2311 | 152/18723 | 7.97e-04 | 7.00e-03 | 33 |
GO:00165715 | Cervix | CC | histone methylation | 30/2311 | 141/18723 | 1.88e-03 | 1.39e-02 | 30 |
GO:19908234 | Cervix | CC | response to leukemia inhibitory factor | 22/2311 | 95/18723 | 2.40e-03 | 1.70e-02 | 22 |
GO:00180224 | Cervix | CC | peptidyl-lysine methylation | 28/2311 | 131/18723 | 2.43e-03 | 1.71e-02 | 28 |
GO:00064795 | Cervix | CC | protein methylation | 36/2311 | 181/18723 | 2.46e-03 | 1.71e-02 | 36 |
GO:00082135 | Cervix | CC | protein alkylation | 36/2311 | 181/18723 | 2.46e-03 | 1.71e-02 | 36 |
GO:00148963 | Cervix | CC | muscle hypertrophy | 23/2311 | 104/18723 | 3.63e-03 | 2.32e-02 | 23 |
GO:0014855 | Cervix | CC | striated muscle cell proliferation | 18/2311 | 76/18723 | 4.45e-03 | 2.71e-02 | 18 |
GO:19908304 | Cervix | CC | cellular response to leukemia inhibitory factor | 21/2311 | 94/18723 | 4.68e-03 | 2.82e-02 | 21 |
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 |
JARID2 | SNV | Missense_Mutation | | c.1100N>G | p.Pro367Arg | p.P367R | Q92833 | protein_coding | deleterious_low_confidence(0.02) | benign(0.168) | TCGA-A8-A08R-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
JARID2 | SNV | Missense_Mutation | | c.71C>T | p.Ser24Leu | p.S24L | Q92833 | protein_coding | deleterious(0) | probably_damaging(0.966) | TCGA-BH-A0AZ-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | doxorubicin | CR |
JARID2 | SNV | Missense_Mutation | | c.550N>A | p.Glu184Lys | p.E184K | Q92833 | protein_coding | tolerated(0.06) | benign(0.022) | TCGA-D8-A27G-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
JARID2 | insertion | Nonsense_Mutation | novel | c.1023_1024insTTTGGTTTTAGTGGAAGCATTTGAAA | p.Val342PhefsTer8 | p.V342Ffs*8 | Q92833 | protein_coding | | | TCGA-A2-A0EX-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | SD |
JARID2 | insertion | Frame_Shift_Ins | novel | c.961_962insAGGAGCACACGCTGCAGACACCTCACTTTCTGCAGAGCTGG | p.Ser321LysfsTer30 | p.S321Kfs*30 | Q92833 | protein_coding | | | TCGA-B6-A0IK-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Unknown | Unknown | PD |
JARID2 | insertion | Frame_Shift_Ins | novel | c.2634_2635insCAAA | p.Val879GlnfsTer21 | p.V879Qfs*21 | Q92833 | protein_coding | | | TCGA-B6-A0RE-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
JARID2 | insertion | In_Frame_Ins | novel | c.2635_2636insCATGTTCTGACCCATTCTTTGCCCCCA | p.Val879delinsAlaCysSerAspProPhePheAlaProIle | p.V879delinsACSDPFFAPI | Q92833 | protein_coding | | | TCGA-B6-A0RE-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
JARID2 | deletion | Frame_Shift_Del | novel | c.2472delN | p.Tyr826IlefsTer8 | p.Y826Ifs*8 | Q92833 | protein_coding | | | TCGA-D8-A27V-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | SD |
JARID2 | insertion | Frame_Shift_Ins | novel | c.2810_2811insCC | p.Ile938ProfsTer48 | p.I938Pfs*48 | Q92833 | protein_coding | | | TCGA-E9-A1NA-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cyclophosphamide | SD |
JARID2 | insertion | Nonsense_Mutation | novel | c.2812_2813insCCGTAGAAGGATGGTTCTGAGAATGAATTTCTGTGGC | p.Ile938ThrfsTer7 | p.I938Tfs*7 | Q92833 | protein_coding | | | TCGA-E9-A1NA-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cyclophosphamide | SD |