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 |
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:190307625 | Skin | cSCC | regulation of protein localization to plasma membrane | 49/4864 | 104/18723 | 2.71e-06 | 4.30e-05 | 49 |
GO:000701529 | Skin | cSCC | actin filament organization | 156/4864 | 442/18723 | 7.37e-06 | 1.02e-04 | 156 |
GO:190547524 | Skin | cSCC | regulation of protein localization to membrane | 72/4864 | 175/18723 | 8.12e-06 | 1.09e-04 | 72 |
GO:003297029 | Skin | cSCC | regulation of actin filament-based process | 142/4864 | 397/18723 | 8.50e-06 | 1.13e-04 | 142 |
GO:003158926 | Skin | cSCC | cell-substrate adhesion | 130/4864 | 363/18723 | 1.87e-05 | 2.23e-04 | 130 |
GO:0110053111 | Skin | cSCC | regulation of actin filament organization | 103/4864 | 278/18723 | 2.78e-05 | 3.12e-04 | 103 |
GO:003295629 | Skin | cSCC | regulation of actin cytoskeleton organization | 127/4864 | 358/18723 | 3.83e-05 | 4.13e-04 | 127 |
GO:190382822 | Skin | cSCC | negative regulation of cellular protein localization | 50/4864 | 117/18723 | 5.85e-05 | 5.77e-04 | 50 |
GO:000716024 | Skin | cSCC | cell-matrix adhesion | 85/4864 | 233/18723 | 2.43e-04 | 1.98e-03 | 85 |
GO:005101729 | Skin | cSCC | actin filament bundle assembly | 60/4864 | 157/18723 | 4.86e-04 | 3.66e-03 | 60 |
GO:006157229 | Skin | cSCC | actin filament bundle organization | 60/4864 | 161/18723 | 1.02e-03 | 6.86e-03 | 60 |
GO:19043766 | Skin | cSCC | negative regulation of protein localization to cell periphery | 14/4864 | 26/18723 | 2.26e-03 | 1.32e-02 | 14 |
GO:19030779 | Skin | cSCC | negative regulation of protein localization to plasma membrane | 13/4864 | 24/18723 | 3.02e-03 | 1.67e-02 | 13 |
GO:190290425 | Skin | cSCC | negative regulation of supramolecular fiber organization | 59/4864 | 167/18723 | 4.56e-03 | 2.33e-02 | 59 |
GO:0032231111 | Skin | cSCC | regulation of actin filament bundle assembly | 39/4864 | 105/18723 | 7.56e-03 | 3.53e-02 | 39 |
GO:19054765 | Skin | cSCC | negative regulation of protein localization to membrane | 15/4864 | 32/18723 | 8.65e-03 | 4.00e-02 | 15 |
GO:1902903113 | Thyroid | PTC | regulation of supramolecular fiber organization | 202/5968 | 383/18723 | 1.16e-17 | 1.15e-15 | 202 |
GO:0007015112 | Thyroid | PTC | actin filament organization | 225/5968 | 442/18723 | 3.76e-17 | 3.44e-15 | 225 |
GO:0072659112 | Thyroid | PTC | protein localization to plasma membrane | 153/5968 | 284/18723 | 9.90e-15 | 6.50e-13 | 153 |
GO:1990778111 | Thyroid | PTC | protein localization to cell periphery | 172/5968 | 333/18723 | 3.71e-14 | 2.30e-12 | 172 |
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 |
PPFIA1 | SNV | Missense_Mutation | | c.113N>C | p.Gln38Pro | p.Q38P | Q13136 | protein_coding | deleterious(0) | possibly_damaging(0.824) | TCGA-A1-A0SO-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | | SD |
PPFIA1 | SNV | Missense_Mutation | novel | c.632N>T | p.Asn211Ile | p.N211I | Q13136 | protein_coding | tolerated(0.06) | benign(0.017) | TCGA-A7-A6VX-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | docetaxel | CR |
PPFIA1 | SNV | Missense_Mutation | rs767442340 | c.1912N>A | p.Ala638Thr | p.A638T | Q13136 | protein_coding | deleterious(0) | probably_damaging(0.935) | TCGA-A8-A091-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | 5-fluorouracil | PD |
PPFIA1 | SNV | Missense_Mutation | novel | c.217N>T | p.His73Tyr | p.H73Y | Q13136 | protein_coding | tolerated(0.11) | possibly_damaging(0.709) | TCGA-A8-A097-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | tamoxiphen | SD |
PPFIA1 | SNV | Missense_Mutation | | c.136G>A | p.Glu46Lys | p.E46K | Q13136 | protein_coding | deleterious(0) | probably_damaging(0.994) | TCGA-AC-A23H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
PPFIA1 | SNV | Missense_Mutation | | c.2240G>C | p.Arg747Thr | p.R747T | Q13136 | protein_coding | deleterious(0.02) | possibly_damaging(0.703) | TCGA-AC-A23H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
PPFIA1 | SNV | Missense_Mutation | novel | c.2920N>C | p.Ser974Arg | p.S974R | Q13136 | protein_coding | deleterious(0.01) | possibly_damaging(0.905) | TCGA-AO-A1KT-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | fluorouracil | SD |
PPFIA1 | SNV | Missense_Mutation | | c.2567N>A | p.Arg856His | p.R856H | Q13136 | protein_coding | deleterious(0.02) | possibly_damaging(0.475) | TCGA-AQ-A04H-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | taxotere | SD |
PPFIA1 | SNV | Missense_Mutation | novel | c.2071A>G | p.Ser691Gly | p.S691G | Q13136 | protein_coding | tolerated(0.38) | benign(0) | TCGA-BH-A0HY-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | taxotere | CR |
PPFIA1 | SNV | Missense_Mutation | | c.2513N>T | p.Ser838Leu | p.S838L | Q13136 | protein_coding | tolerated(0.27) | benign(0.013) | TCGA-C8-A274-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | SD |