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 |
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 |
Prostate | | BPH: Benign Prostatic Hyperplasia |
Skin | | AK: Actinic keratosis |
cSCC: Cutaneous squamous cell carcinoma |
SCCIS:squamous cell carcinoma in situ |
GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:000189415 | Endometrium | EEC | tissue homeostasis | 51/2168 | 268/18723 | 2.34e-04 | 2.75e-03 | 51 |
GO:005105111 | Endometrium | EEC | negative regulation of transport | 80/2168 | 470/18723 | 2.53e-04 | 2.93e-03 | 80 |
GO:001095914 | Endometrium | EEC | regulation of metal ion transport | 70/2168 | 406/18723 | 4.12e-04 | 4.35e-03 | 70 |
GO:001821013 | Endometrium | EEC | peptidyl-threonine modification | 28/2168 | 125/18723 | 4.23e-04 | 4.42e-03 | 28 |
GO:000268513 | Endometrium | EEC | regulation of leukocyte migration | 41/2168 | 210/18723 | 5.35e-04 | 5.38e-03 | 41 |
GO:006024914 | Endometrium | EEC | anatomical structure homeostasis | 56/2168 | 314/18723 | 6.52e-04 | 6.35e-03 | 56 |
GO:001810713 | Endometrium | EEC | peptidyl-threonine phosphorylation | 26/2168 | 116/18723 | 6.60e-04 | 6.37e-03 | 26 |
GO:005087816 | Endometrium | EEC | regulation of body fluid levels | 65/2168 | 379/18723 | 7.48e-04 | 7.05e-03 | 65 |
GO:006032613 | Endometrium | EEC | cell chemotaxis | 55/2168 | 310/18723 | 8.22e-04 | 7.63e-03 | 55 |
GO:007121414 | Endometrium | EEC | cellular response to abiotic stimulus | 58/2168 | 331/18723 | 8.25e-04 | 7.64e-03 | 58 |
GO:010400414 | Endometrium | EEC | cellular response to environmental stimulus | 58/2168 | 331/18723 | 8.25e-04 | 7.64e-03 | 58 |
GO:003059513 | Endometrium | EEC | leukocyte chemotaxis | 43/2168 | 230/18723 | 1.01e-03 | 8.89e-03 | 43 |
GO:003210313 | Endometrium | EEC | positive regulation of response to external stimulus | 71/2168 | 427/18723 | 1.06e-03 | 9.18e-03 | 71 |
GO:003287411 | Endometrium | EEC | positive regulation of stress-activated MAPK cascade | 27/2168 | 126/18723 | 1.09e-03 | 9.43e-03 | 27 |
GO:007030411 | Endometrium | EEC | positive regulation of stress-activated protein kinase signaling cascade | 27/2168 | 128/18723 | 1.39e-03 | 1.14e-02 | 27 |
GO:000268813 | Endometrium | EEC | regulation of leukocyte chemotaxis | 26/2168 | 122/18723 | 1.45e-03 | 1.18e-02 | 26 |
GO:000268713 | Endometrium | EEC | positive regulation of leukocyte migration | 28/2168 | 135/18723 | 1.50e-03 | 1.21e-02 | 28 |
GO:007147012 | Endometrium | EEC | cellular response to osmotic stress | 12/2168 | 41/18723 | 1.78e-03 | 1.38e-02 | 12 |
GO:007167513 | Endometrium | EEC | regulation of mononuclear cell migration | 24/2168 | 115/18723 | 2.89e-03 | 2.04e-02 | 24 |
GO:00020289 | Endometrium | EEC | regulation of sodium ion transport | 20/2168 | 90/18723 | 2.92e-03 | 2.06e-02 | 20 |
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 |
STK39 | SNV | Missense_Mutation | | c.1466N>A | p.Ala489Asp | p.A489D | Q9UEW8 | protein_coding | deleterious(0) | probably_damaging(0.978) | TCGA-AC-A2FF-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cytoxan | CR |
STK39 | insertion | Nonsense_Mutation | novel | c.210_211insTAGAGCTTGGCTCTCTGGTTTGTGATCAACCTCA | p.Ser71Ter | p.S71* | Q9UEW8 | protein_coding | | | TCGA-AN-A0FS-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
STK39 | insertion | Nonsense_Mutation | novel | c.1193_1194insCTGGTCATCTTTTGATTAAGAGATCGTATTTGATTT | p.Ala398_Ala399insTrpSerSerPheAspTerGluIleValPheAspLeu | p.A398_A399insWSSFD*EIVFDL | Q9UEW8 | protein_coding | | | TCGA-AN-A0FX-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
STK39 | deletion | Frame_Shift_Del | novel | c.1269delC | p.Glu424AsnfsTer29 | p.E424Nfs*29 | Q9UEW8 | protein_coding | | | TCGA-D8-A27V-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | SD |
STK39 | insertion | Frame_Shift_Ins | novel | c.973_974insTCCTTCCAAAA | p.Arg325IlefsTer12 | p.R325Ifs*12 | Q9UEW8 | protein_coding | | | TCGA-E2-A15P-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | arimidex | SD |
STK39 | SNV | Missense_Mutation | | c.361N>T | p.Val121Leu | p.V121L | Q9UEW8 | protein_coding | tolerated(0.07) | possibly_damaging(0.546) | TCGA-DG-A2KK-01 | Cervix | cervical & endocervical cancer | Female | <65 | III/IV | Chemotherapy | cisplatin | SD |
STK39 | SNV | Missense_Mutation | novel | c.1582T>G | p.Ser528Ala | p.S528A | Q9UEW8 | protein_coding | tolerated(0.14) | benign(0.045) | TCGA-DS-A1OB-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | carboplatin | PD |
STK39 | SNV | Missense_Mutation | novel | c.564N>C | p.Gln188His | p.Q188H | Q9UEW8 | protein_coding | tolerated(0.28) | possibly_damaging(0.859) | TCGA-VS-A94X-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | PD |
STK39 | SNV | Missense_Mutation | novel | c.562N>G | p.Gln188Glu | p.Q188E | Q9UEW8 | protein_coding | deleterious(0) | probably_damaging(0.981) | TCGA-ZJ-AAXD-01 | Cervix | cervical & endocervical cancer | Female | <65 | III/IV | Unknown | Unknown | SD |
STK39 | SNV | Missense_Mutation | | c.442G>A | p.Asp148Asn | p.D148N | Q9UEW8 | protein_coding | deleterious(0.02) | probably_damaging(1) | TCGA-AA-3510-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD |