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 |
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:00468221 | Colorectum | SER | regulation of nucleocytoplasmic transport | 34/2897 | 106/18723 | 1.46e-05 | 4.47e-04 | 34 |
GO:00315891 | Colorectum | SER | cell-substrate adhesion | 86/2897 | 363/18723 | 2.36e-05 | 6.64e-04 | 86 |
GO:00420601 | Colorectum | SER | wound healing | 97/2897 | 422/18723 | 2.69e-05 | 7.30e-04 | 97 |
GO:00016671 | Colorectum | SER | ameboidal-type cell migration | 105/2897 | 475/18723 | 6.97e-05 | 1.59e-03 | 105 |
GO:00019541 | Colorectum | SER | positive regulation of cell-matrix adhesion | 21/2897 | 58/18723 | 8.83e-05 | 1.91e-03 | 21 |
GO:00901321 | Colorectum | SER | epithelium migration | 82/2897 | 360/18723 | 1.50e-04 | 2.93e-03 | 82 |
GO:00106311 | Colorectum | SER | epithelial cell migration | 81/2897 | 357/18723 | 1.87e-04 | 3.44e-03 | 81 |
GO:00160551 | Colorectum | SER | Wnt signaling pathway | 97/2897 | 444/18723 | 2.02e-04 | 3.68e-03 | 97 |
GO:01987381 | Colorectum | SER | cell-cell signaling by wnt | 97/2897 | 446/18723 | 2.39e-04 | 4.11e-03 | 97 |
GO:00901301 | Colorectum | SER | tissue migration | 82/2897 | 365/18723 | 2.40e-04 | 4.12e-03 | 82 |
GO:00301111 | Colorectum | SER | regulation of Wnt signaling pathway | 75/2897 | 328/18723 | 2.47e-04 | 4.20e-03 | 75 |
GO:19045891 | Colorectum | SER | regulation of protein import | 21/2897 | 63/18723 | 3.35e-04 | 5.30e-03 | 21 |
GO:00457851 | Colorectum | SER | positive regulation of cell adhesion | 93/2897 | 437/18723 | 6.78e-04 | 9.04e-03 | 93 |
GO:00300101 | Colorectum | SER | establishment of cell polarity | 37/2897 | 143/18723 | 8.72e-04 | 1.06e-02 | 37 |
GO:0051051 | Colorectum | SER | negative regulation of transport | 98/2897 | 470/18723 | 1.01e-03 | 1.19e-02 | 98 |
GO:00170381 | Colorectum | SER | protein import | 49/2897 | 206/18723 | 1.12e-03 | 1.29e-02 | 49 |
GO:00423061 | Colorectum | SER | regulation of protein import into nucleus | 19/2897 | 60/18723 | 1.28e-03 | 1.43e-02 | 19 |
GO:00071601 | Colorectum | SER | cell-matrix adhesion | 53/2897 | 233/18723 | 2.10e-03 | 2.06e-02 | 53 |
GO:00600701 | Colorectum | SER | canonical Wnt signaling pathway | 66/2897 | 303/18723 | 2.10e-03 | 2.06e-02 | 66 |
GO:00716341 | Colorectum | SER | regulation of transforming growth factor beta production | 14/2897 | 41/18723 | 2.45e-03 | 2.32e-02 | 14 |
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 |
FERMT1 | SNV | Missense_Mutation | | c.1870N>A | p.Glu624Lys | p.E624K | Q9BQL6 | protein_coding | deleterious(0.01) | possibly_damaging(0.833) | TCGA-A8-A09I-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | anastrozole | SD |
FERMT1 | SNV | Missense_Mutation | | c.447G>C | p.Lys149Asn | p.K149N | Q9BQL6 | protein_coding | tolerated(0.22) | probably_damaging(0.983) | TCGA-AC-A23H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
FERMT1 | SNV | Missense_Mutation | | c.70G>C | p.Glu24Gln | p.E24Q | Q9BQL6 | protein_coding | tolerated(0.18) | benign(0.101) | TCGA-AC-A23H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
FERMT1 | SNV | Missense_Mutation | | c.509N>A | p.Ser170Tyr | p.S170Y | Q9BQL6 | protein_coding | tolerated(0.23) | possibly_damaging(0.703) | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
FERMT1 | SNV | Missense_Mutation | | c.2028N>T | p.Gln676His | p.Q676H | Q9BQL6 | protein_coding | tolerated(0.94) | possibly_damaging(0.732) | TCGA-AN-A0AK-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
FERMT1 | SNV | Missense_Mutation | | c.1024G>A | p.Glu342Lys | p.E342K | Q9BQL6 | protein_coding | deleterious(0.01) | benign(0.232) | TCGA-AO-A0JC-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | fluorouracil | SD |
FERMT1 | SNV | Missense_Mutation | novel | c.757T>C | p.Ser253Pro | p.S253P | Q9BQL6 | protein_coding | deleterious(0.01) | probably_damaging(1) | TCGA-AO-A0JD-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | cyclophosphamide | SD |
FERMT1 | SNV | Missense_Mutation | rs143876620 | c.1603N>T | p.Arg535Trp | p.R535W | Q9BQL6 | protein_coding | deleterious(0) | probably_damaging(0.98) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
FERMT1 | SNV | Missense_Mutation | novel | c.790N>A | p.Glu264Lys | p.E264K | Q9BQL6 | protein_coding | deleterious(0.02) | probably_damaging(0.976) | TCGA-MY-A5BF-01 | Cervix | cervical & endocervical cancer | Female | >=65 | I/II | Chemotherapy | cisplatin | CR |
FERMT1 | SNV | Missense_Mutation | | c.1258N>A | p.Leu420Ile | p.L420I | Q9BQL6 | protein_coding | deleterious(0.03) | benign(0.236) | TCGA-AA-3977-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD |