Tissue | Expression Dynamics | Abbreviation |
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:0032392 | Colorectum | AD | DNA geometric change | 31/3918 | 90/18723 | 2.02e-03 | 1.63e-02 | 31 |
GO:0006354 | Colorectum | AD | DNA-templated transcription, elongation | 31/3918 | 91/18723 | 2.46e-03 | 1.90e-02 | 31 |
GO:0006368 | Colorectum | AD | transcription elongation from RNA polymerase II promoter | 24/3918 | 69/18723 | 5.35e-03 | 3.52e-02 | 24 |
GO:00323921 | Colorectum | MSS | DNA geometric change | 29/3467 | 90/18723 | 1.26e-03 | 1.20e-02 | 29 |
GO:00063541 | Colorectum | MSS | DNA-templated transcription, elongation | 29/3467 | 91/18723 | 1.52e-03 | 1.39e-02 | 29 |
GO:00063681 | Colorectum | MSS | transcription elongation from RNA polymerase II promoter | 22/3467 | 69/18723 | 5.31e-03 | 3.62e-02 | 22 |
GO:0032508 | Colorectum | MSS | DNA duplex unwinding | 25/3467 | 84/18723 | 8.27e-03 | 4.99e-02 | 25 |
GO:00063682 | Colorectum | FAP | transcription elongation from RNA polymerase II promoter | 20/2622 | 69/18723 | 9.25e-04 | 9.26e-03 | 20 |
GO:00063542 | Colorectum | FAP | DNA-templated transcription, elongation | 24/2622 | 91/18723 | 1.32e-03 | 1.22e-02 | 24 |
GO:00063543 | Colorectum | CRC | DNA-templated transcription, elongation | 19/2078 | 91/18723 | 4.74e-03 | 3.67e-02 | 19 |
GO:000635414 | Esophagus | ESCC | DNA-templated transcription, elongation | 76/8552 | 91/18723 | 8.35e-14 | 4.11e-12 | 76 |
GO:000636814 | Esophagus | ESCC | transcription elongation from RNA polymerase II promoter | 56/8552 | 69/18723 | 1.40e-09 | 3.30e-08 | 56 |
GO:00063673 | Esophagus | ESCC | transcription initiation from RNA polymerase II promoter | 56/8552 | 77/18723 | 1.30e-06 | 1.59e-05 | 56 |
GO:000635211 | Esophagus | ESCC | DNA-templated transcription, initiation | 86/8552 | 130/18723 | 1.88e-06 | 2.19e-05 | 86 |
GO:003239214 | Esophagus | ESCC | DNA geometric change | 62/8552 | 90/18723 | 7.02e-06 | 7.04e-05 | 62 |
GO:003250813 | Esophagus | ESCC | DNA duplex unwinding | 58/8552 | 84/18723 | 1.23e-05 | 1.14e-04 | 58 |
GO:000635411 | Liver | HCC | DNA-templated transcription, elongation | 64/7958 | 91/18723 | 7.00e-08 | 1.44e-06 | 64 |
GO:000636811 | Liver | HCC | transcription elongation from RNA polymerase II promoter | 50/7958 | 69/18723 | 4.32e-07 | 7.22e-06 | 50 |
GO:00063671 | Liver | HCC | transcription initiation from RNA polymerase II promoter | 52/7958 | 77/18723 | 7.87e-06 | 9.27e-05 | 52 |
GO:0006352 | Liver | HCC | DNA-templated transcription, initiation | 78/7958 | 130/18723 | 4.19e-05 | 4.11e-04 | 78 |
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 |
GTF2F2 | SNV | Missense_Mutation | novel | c.428N>G | p.Gln143Arg | p.Q143R | P13984 | protein_coding | deleterious(0.02) | possibly_damaging(0.616) | TCGA-AP-A1DK-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
GTF2F2 | SNV | Missense_Mutation | novel | c.296N>T | p.Ser99Ile | p.S99I | P13984 | protein_coding | tolerated(0.09) | possibly_damaging(0.521) | TCGA-AX-A06F-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | carboplatin | SD |
GTF2F2 | SNV | Missense_Mutation | novel | c.152N>T | p.Arg51Met | p.R51M | P13984 | protein_coding | tolerated(0.13) | benign(0.085) | TCGA-AX-A2HC-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | paclitaxel | PD |
GTF2F2 | SNV | Missense_Mutation | | c.193N>T | p.Ile65Phe | p.I65F | P13984 | protein_coding | tolerated(0.12) | benign(0.203) | TCGA-B5-A0JV-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | PD |
GTF2F2 | SNV | Missense_Mutation | rs768761643 | c.490G>A | p.Glu164Lys | p.E164K | P13984 | protein_coding | deleterious(0) | benign(0.009) | TCGA-E6-A1LX-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
GTF2F2 | SNV | Missense_Mutation | novel | c.311T>C | p.Leu104Pro | p.L104P | P13984 | protein_coding | deleterious(0.01) | benign(0.324) | TCGA-EY-A5W2-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
GTF2F2 | SNV | Missense_Mutation | novel | c.269G>A | p.Gly90Glu | p.G90E | P13984 | protein_coding | tolerated(0.07) | probably_damaging(0.926) | TCGA-22-5481-01 | Lung | lung squamous cell carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
GTF2F2 | SNV | Missense_Mutation | | c.491A>T | p.Glu164Val | p.E164V | P13984 | protein_coding | deleterious(0.02) | benign(0.035) | TCGA-CV-A45W-01 | Oral cavity | head & neck squamous cell carcinoma | Male | >=65 | I/II | Unknown | Unknown | SD |
GTF2F2 | SNV | Missense_Mutation | novel | c.68N>C | p.Val23Ala | p.V23A | P13984 | protein_coding | deleterious(0) | probably_damaging(0.991) | TCGA-F7-A624-01 | Oral cavity | head & neck squamous cell carcinoma | Male | >=65 | I/II | Unknown | Unknown | SD |
GTF2F2 | SNV | Missense_Mutation | | c.535N>A | p.Asp179Asn | p.D179N | P13984 | protein_coding | deleterious(0.02) | possibly_damaging(0.744) | TCGA-BR-6452-01 | Stomach | stomach adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |