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 |
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 |
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:00430877 | Cervix | CC | regulation of GTPase activity | 79/2311 | 348/18723 | 4.21e-08 | 2.60e-06 | 79 |
GO:0043087 | Colorectum | AD | regulation of GTPase activity | 110/3918 | 348/18723 | 1.64e-06 | 5.03e-05 | 110 |
GO:00430871 | Colorectum | SER | regulation of GTPase activity | 77/2897 | 348/18723 | 5.90e-04 | 8.07e-03 | 77 |
GO:00430872 | Colorectum | MSS | regulation of GTPase activity | 101/3467 | 348/18723 | 1.00e-06 | 3.46e-05 | 101 |
GO:00430873 | Colorectum | FAP | regulation of GTPase activity | 85/2622 | 348/18723 | 1.20e-07 | 7.68e-06 | 85 |
GO:00430874 | Colorectum | CRC | regulation of GTPase activity | 69/2078 | 348/18723 | 1.11e-06 | 6.69e-05 | 69 |
GO:00430878 | Endometrium | AEH | regulation of GTPase activity | 66/2100 | 348/18723 | 1.26e-05 | 2.77e-04 | 66 |
GO:004308712 | Endometrium | EEC | regulation of GTPase activity | 67/2168 | 348/18723 | 1.84e-05 | 3.43e-04 | 67 |
GO:00425524 | Esophagus | ESCC | myelination | 85/8552 | 134/18723 | 2.51e-05 | 2.13e-04 | 85 |
GO:00072724 | Esophagus | ESCC | ensheathment of neurons | 86/8552 | 136/18723 | 2.68e-05 | 2.24e-04 | 86 |
GO:00083664 | Esophagus | ESCC | axon ensheathment | 86/8552 | 136/18723 | 2.68e-05 | 2.24e-04 | 86 |
GO:004308715 | Esophagus | ESCC | regulation of GTPase activity | 183/8552 | 348/18723 | 5.34e-03 | 2.00e-02 | 183 |
GO:00430875 | Liver | NAFLD | regulation of GTPase activity | 62/1882 | 348/18723 | 5.65e-06 | 2.03e-04 | 62 |
GO:0042552 | Liver | Cirrhotic | myelination | 46/4634 | 134/18723 | 8.04e-03 | 3.77e-02 | 46 |
GO:0007272 | Liver | Cirrhotic | ensheathment of neurons | 46/4634 | 136/18723 | 1.08e-02 | 4.75e-02 | 46 |
GO:0008366 | Liver | Cirrhotic | axon ensheathment | 46/4634 | 136/18723 | 1.08e-02 | 4.75e-02 | 46 |
GO:00072721 | Liver | HCC | ensheathment of neurons | 72/7958 | 136/18723 | 8.87e-03 | 3.44e-02 | 72 |
GO:00083661 | Liver | HCC | axon ensheathment | 72/7958 | 136/18723 | 8.87e-03 | 3.44e-02 | 72 |
GO:00425521 | Liver | HCC | myelination | 71/7958 | 134/18723 | 9.08e-03 | 3.49e-02 | 71 |
GO:00430876 | Lung | IAC | regulation of GTPase activity | 67/2061 | 348/18723 | 3.43e-06 | 1.44e-04 | 67 |
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 |
SBF2 | SNV | Missense_Mutation | | c.2084N>A | p.Pro695Gln | p.P695Q | Q86WG5 | protein_coding | tolerated(0.47) | benign(0.027) | TCGA-A7-A0DB-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | arimidex | SD |
SBF2 | SNV | Missense_Mutation | | c.1201N>C | p.Asn401His | p.N401H | Q86WG5 | protein_coding | deleterious(0.04) | probably_damaging(0.942) | TCGA-A8-A075-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | epirubicin | CR |
SBF2 | SNV | Missense_Mutation | novel | c.1350G>C | p.Lys450Asn | p.K450N | Q86WG5 | protein_coding | tolerated(0.08) | benign(0.056) | TCGA-AC-A2FO-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | chemo | CR |
SBF2 | SNV | Missense_Mutation | | c.1536N>G | p.Asn512Lys | p.N512K | Q86WG5 | protein_coding | tolerated(0.29) | benign(0.017) | TCGA-AC-A8OP-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
SBF2 | SNV | Missense_Mutation | novel | c.4946N>C | p.Leu1649Ser | p.L1649S | Q86WG5 | protein_coding | deleterious(0) | probably_damaging(0.986) | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
SBF2 | SNV | Missense_Mutation | rs750021823 | c.3223N>T | p.Arg1075Cys | p.R1075C | Q86WG5 | protein_coding | tolerated(0.05) | possibly_damaging(0.856) | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
SBF2 | SNV | Missense_Mutation | | c.4024G>C | p.Glu1342Gln | p.E1342Q | Q86WG5 | protein_coding | deleterious(0.01) | possibly_damaging(0.772) | TCGA-AN-A0AT-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
SBF2 | SNV | Missense_Mutation | | c.1025N>A | p.Arg342Gln | p.R342Q | Q86WG5 | protein_coding | tolerated(0.51) | benign(0.049) | TCGA-AO-A0J3-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | cyclophosphamide | SD |
SBF2 | SNV | Missense_Mutation | | c.683N>T | p.Ser228Phe | p.S228F | Q86WG5 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-BH-A0AW-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | carboplatin | SD |
SBF2 | SNV | Missense_Mutation | novel | c.2413N>C | p.Asp805His | p.D805H | Q86WG5 | protein_coding | deleterious(0.03) | probably_damaging(0.993) | TCGA-BH-A0HP-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Chemotherapy | doxorubicin | SD |