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 |
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 |
GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:200123310 | Cervix | CC | regulation of apoptotic signaling pathway | 96/2311 | 356/18723 | 4.08e-14 | 3.05e-11 | 96 |
GO:200123410 | Cervix | CC | negative regulation of apoptotic signaling pathway | 56/2311 | 224/18723 | 1.39e-07 | 6.70e-06 | 56 |
GO:009719110 | Cervix | CC | extrinsic apoptotic signaling pathway | 52/2311 | 219/18723 | 2.06e-06 | 6.34e-05 | 52 |
GO:00064708 | Cervix | CC | protein dephosphorylation | 60/2311 | 281/18723 | 1.33e-05 | 2.68e-04 | 60 |
GO:200123610 | Cervix | CC | regulation of extrinsic apoptotic signaling pathway | 37/2311 | 151/18723 | 2.80e-05 | 4.65e-04 | 37 |
GO:00093149 | Cervix | CC | response to radiation | 86/2311 | 456/18723 | 3.50e-05 | 5.63e-04 | 86 |
GO:00165705 | Cervix | CC | histone modification | 84/2311 | 463/18723 | 1.70e-04 | 2.01e-03 | 84 |
GO:20010209 | Cervix | CC | regulation of response to DNA damage stimulus | 46/2311 | 219/18723 | 1.92e-04 | 2.23e-03 | 46 |
GO:00102126 | Cervix | CC | response to ionizing radiation | 34/2311 | 148/18723 | 2.23e-04 | 2.53e-03 | 34 |
GO:00510528 | Cervix | CC | regulation of DNA metabolic process | 65/2311 | 359/18723 | 9.25e-04 | 7.84e-03 | 65 |
GO:00163117 | Cervix | CC | dephosphorylation | 73/2311 | 417/18723 | 1.23e-03 | 9.87e-03 | 73 |
GO:200123710 | Cervix | CC | negative regulation of extrinsic apoptotic signaling pathway | 23/2311 | 97/18723 | 1.39e-03 | 1.10e-02 | 23 |
GO:20012332 | Colorectum | MSS | regulation of apoptotic signaling pathway | 116/3467 | 356/18723 | 1.02e-10 | 1.06e-08 | 116 |
GO:00510522 | Colorectum | MSS | regulation of DNA metabolic process | 108/3467 | 359/18723 | 5.86e-08 | 3.10e-06 | 108 |
GO:00510542 | Colorectum | MSS | positive regulation of DNA metabolic process | 69/3467 | 201/18723 | 6.33e-08 | 3.26e-06 | 69 |
GO:20012342 | Colorectum | MSS | negative regulation of apoptotic signaling pathway | 72/3467 | 224/18723 | 6.17e-07 | 2.29e-05 | 72 |
GO:20010202 | Colorectum | MSS | regulation of response to DNA damage stimulus | 64/3467 | 219/18723 | 7.20e-05 | 1.21e-03 | 64 |
GO:00971912 | Colorectum | MSS | extrinsic apoptotic signaling pathway | 63/3467 | 219/18723 | 1.34e-04 | 2.03e-03 | 63 |
GO:0016570 | Colorectum | MSS | histone modification | 113/3467 | 463/18723 | 8.37e-04 | 8.68e-03 | 113 |
GO:20010221 | Colorectum | MSS | positive regulation of response to DNA damage stimulus | 33/3467 | 105/18723 | 9.83e-04 | 9.86e-03 | 33 |
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 |
EYA3 | SNV | Missense_Mutation | novel | c.1676N>A | p.Gly559Glu | p.G559E | Q99504 | protein_coding | deleterious(0.02) | possibly_damaging(0.463) | TCGA-AN-A04C-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
EYA3 | SNV | Missense_Mutation | | c.607N>G | p.Leu203Val | p.L203V | Q99504 | protein_coding | tolerated(0.05) | benign(0.355) | TCGA-B6-A0IJ-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
EYA3 | SNV | Missense_Mutation | | c.1551N>G | p.Ser517Arg | p.S517R | Q99504 | protein_coding | deleterious(0) | probably_damaging(0.998) | TCGA-E9-A22H-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | SD |
EYA3 | insertion | Frame_Shift_Ins | novel | c.1324_1325insTGCAGTACACTAATGCTATGAAGCCC | p.Lys442MetfsTer16 | p.K442Mfs*16 | Q99504 | protein_coding | | | TCGA-A8-A07J-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | 5-fluorouracil | CR |
EYA3 | insertion | Nonsense_Mutation | novel | c.1468_1469insGAGACTCCGTCTCTAAATAAATAAATAAAAGGTATTGACAAGGA | p.Leu490ArgfsTer7 | p.L490Rfs*7 | Q99504 | protein_coding | | | TCGA-AN-A0FW-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Unknown | Unknown | SD |
EYA3 | insertion | Frame_Shift_Ins | novel | c.634_635insCTTTCTATGTCCAGGATCCCTTTAAGATTCTGAGGAAAGCATGG | p.Tyr212SerfsTer36 | p.Y212Sfs*36 | Q99504 | protein_coding | | | TCGA-BH-A0HX-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adrimycin | SD |
EYA3 | SNV | Missense_Mutation | | c.292A>C | p.Thr98Pro | p.T98P | Q99504 | protein_coding | tolerated(0.14) | benign(0.006) | TCGA-FU-A3HZ-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
EYA3 | SNV | Missense_Mutation | novel | c.1253N>A | p.Arg418His | p.R418H | Q99504 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-ZJ-AAXN-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
EYA3 | SNV | Missense_Mutation | | c.1505T>C | p.Phe502Ser | p.F502S | Q99504 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-A6-5665-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
EYA3 | SNV | Missense_Mutation | | c.781N>C | p.Thr261Pro | p.T261P | Q99504 | protein_coding | tolerated(0.1) | benign(0) | TCGA-G4-6586-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |