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 |
Oral Cavity | | EOLP: Erosive Oral lichen planus |
LP: leukoplakia |
NEOLP: Non-erosive oral lichen planus |
OSCC: Oral squamous cell carcinoma |
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:00160557 | Cervix | CC | Wnt signaling pathway | 98/2311 | 444/18723 | 4.82e-09 | 4.65e-07 | 98 |
GO:01987387 | Cervix | CC | cell-cell signaling by wnt | 98/2311 | 446/18723 | 6.16e-09 | 5.58e-07 | 98 |
GO:00301117 | Cervix | CC | regulation of Wnt signaling pathway | 76/2311 | 328/18723 | 3.05e-08 | 2.08e-06 | 76 |
GO:00608287 | Cervix | CC | regulation of canonical Wnt signaling pathway | 58/2311 | 253/18723 | 1.83e-06 | 5.89e-05 | 58 |
GO:00600707 | Cervix | CC | canonical Wnt signaling pathway | 66/2311 | 303/18723 | 2.47e-06 | 7.35e-05 | 66 |
GO:00068987 | Cervix | CC | receptor-mediated endocytosis | 53/2311 | 244/18723 | 2.52e-05 | 4.29e-04 | 53 |
GO:00301008 | Cervix | CC | regulation of endocytosis | 47/2311 | 211/18723 | 3.65e-05 | 5.82e-04 | 47 |
GO:00458077 | Cervix | CC | positive regulation of endocytosis | 27/2311 | 100/18723 | 5.55e-05 | 8.10e-04 | 27 |
GO:00725836 | Cervix | CC | clathrin-dependent endocytosis | 16/2311 | 47/18723 | 9.56e-05 | 1.25e-03 | 16 |
GO:00431127 | Cervix | CC | receptor metabolic process | 37/2311 | 166/18723 | 2.31e-04 | 2.58e-03 | 37 |
GO:00070347 | Cervix | CC | vacuolar transport | 34/2311 | 157/18723 | 7.03e-04 | 6.40e-03 | 34 |
GO:00301784 | Cervix | CC | negative regulation of Wnt signaling pathway | 35/2311 | 170/18723 | 1.52e-03 | 1.17e-02 | 35 |
GO:00900901 | Cervix | CC | negative regulation of canonical Wnt signaling pathway | 29/2311 | 137/18723 | 2.40e-03 | 1.70e-02 | 29 |
GO:00482597 | Cervix | CC | regulation of receptor-mediated endocytosis | 24/2311 | 110/18723 | 3.62e-03 | 2.31e-02 | 24 |
GO:00219541 | Cervix | CC | central nervous system neuron development | 19/2311 | 81/18723 | 3.96e-03 | 2.48e-02 | 19 |
GO:00316236 | Cervix | CC | receptor internalization | 24/2311 | 113/18723 | 5.18e-03 | 3.05e-02 | 24 |
GO:00309003 | Cervix | CC | forebrain development | 64/2311 | 379/18723 | 5.53e-03 | 3.19e-02 | 64 |
GO:00070416 | Cervix | CC | lysosomal transport | 24/2311 | 114/18723 | 5.81e-03 | 3.33e-02 | 24 |
GO:0007034 | Colorectum | AD | vacuolar transport | 60/3918 | 157/18723 | 4.97e-07 | 1.85e-05 | 60 |
GO:0043112 | Colorectum | AD | receptor metabolic process | 62/3918 | 166/18723 | 8.18e-07 | 2.85e-05 | 62 |
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 |
SCYL2 | SNV | Missense_Mutation | novel | c.416N>G | p.Pro139Arg | p.P139R | | protein_coding | deleterious(0.01) | benign(0.285) | TCGA-A2-A04Q-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | SD |
SCYL2 | SNV | Missense_Mutation | novel | c.1571N>G | p.Asp524Gly | p.D524G | | protein_coding | deleterious(0) | probably_damaging(0.952) | TCGA-A8-A085-01 | Breast | breast invasive carcinoma | Male | <65 | I/II | Hormone Therapy | tamoxiphen | SD |
SCYL2 | SNV | Missense_Mutation | | c.834N>A | p.Phe278Leu | p.F278L | | protein_coding | tolerated(0.09) | benign(0.32) | TCGA-AC-A23H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
SCYL2 | SNV | Missense_Mutation | rs147018741 | c.1525N>T | p.Arg509Cys | p.R509C | | protein_coding | deleterious(0) | benign(0.432) | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
SCYL2 | SNV | Missense_Mutation | | c.2698A>T | p.Met900Leu | p.M900L | | protein_coding | tolerated_low_confidence(0.28) | benign(0) | TCGA-B6-A1KN-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
SCYL2 | SNV | Missense_Mutation | novel | c.628N>C | p.Glu210Gln | p.E210Q | | protein_coding | tolerated(0.54) | benign(0.025) | TCGA-BH-A0B6-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
SCYL2 | SNV | Missense_Mutation | novel | c.2525C>T | p.Ser842Phe | p.S842F | | protein_coding | deleterious(0) | probably_damaging(0.979) | TCGA-BH-A0H5-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cytoxan | CR |
SCYL2 | SNV | Missense_Mutation | | c.2022N>C | p.Gln674His | p.Q674H | | protein_coding | tolerated(0.13) | benign(0.003) | TCGA-D8-A147-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicine | SD |
SCYL2 | SNV | Missense_Mutation | | c.958C>G | p.Gln320Glu | p.Q320E | | protein_coding | tolerated(0.16) | possibly_damaging(0.55) | TCGA-D8-A1JA-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | adriamycin | PD |
SCYL2 | SNV | Missense_Mutation | novel | c.1343A>G | p.Glu448Gly | p.E448G | | protein_coding | tolerated(0.06) | benign(0.042) | TCGA-D8-A3Z6-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | cyclophosphane | SD |