Tissue | Expression Dynamics | Abbreviation |
Esophagus | ![The image shows the transcriptomic changes along malignancy continuum.log2FC in expression of this searched gene in stem-like cells from each diseased tissue sample relative to stem-like cells in normal samples in each tissue plotted against the malignancy continuum. Samples are colored based on if they are from different disease stage.](images/deg_images/Esophagus/FMR1_pca_on_diff_genes.png) | ESCC: Esophageal squamous cell carcinoma |
HGIN: High-grade intraepithelial neoplasias |
LGIN: Low-grade intraepithelial neoplasias |
Liver | ![The image shows the transcriptomic changes along malignancy continuum.log2FC in expression of this searched gene in stem-like cells from each diseased tissue sample relative to stem-like cells in normal samples in each tissue plotted against the malignancy continuum. Samples are colored based on if they are from different disease stage.](images/deg_images/Liver/FMR1_pca_on_diff_genes.png) | HCC: Hepatocellular carcinoma |
NAFLD: Non-alcoholic fatty liver disease |
Oral Cavity | ![The image shows the transcriptomic changes along malignancy continuum.log2FC in expression of this searched gene in stem-like cells from each diseased tissue sample relative to stem-like cells in normal samples in each tissue plotted against the malignancy continuum. Samples are colored based on if they are from different disease stage.](images/deg_images/OralCavity/FMR1_pca_on_diff_genes.png) | EOLP: Erosive Oral lichen planus |
LP: leukoplakia |
NEOLP: Non-erosive oral lichen planus |
OSCC: Oral squamous cell carcinoma |
Thyroid | ![The image shows the transcriptomic changes along malignancy continuum.log2FC in expression of this searched gene in stem-like cells from each diseased tissue sample relative to stem-like cells in normal samples in each tissue plotted against the malignancy continuum. Samples are colored based on if they are from different disease stage.](images/deg_images/Thyroid/FMR1_pca_on_diff_genes.png) | 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:003133120 | Oral cavity | OSCC | positive regulation of cellular catabolic process | 273/7305 | 427/18723 | 6.39e-26 | 2.02e-23 | 273 |
GO:004217620 | Oral cavity | OSCC | regulation of protein catabolic process | 254/7305 | 391/18723 | 1.07e-25 | 3.22e-23 | 254 |
GO:000640318 | Oral cavity | OSCC | RNA localization | 150/7305 | 201/18723 | 6.90e-25 | 1.98e-22 | 150 |
GO:190331118 | Oral cavity | OSCC | regulation of mRNA metabolic process | 197/7305 | 288/18723 | 2.83e-24 | 7.16e-22 | 197 |
GO:001905820 | Oral cavity | OSCC | viral life cycle | 208/7305 | 317/18723 | 4.59e-22 | 1.00e-19 | 208 |
GO:004586220 | Oral cavity | OSCC | positive regulation of proteolysis | 236/7305 | 372/18723 | 6.53e-22 | 1.38e-19 | 236 |
GO:190336220 | Oral cavity | OSCC | regulation of cellular protein catabolic process | 174/7305 | 255/18723 | 2.04e-21 | 3.70e-19 | 174 |
GO:000641318 | Oral cavity | OSCC | translational initiation | 96/7305 | 118/18723 | 4.02e-21 | 7.06e-19 | 96 |
GO:000640118 | Oral cavity | OSCC | RNA catabolic process | 184/7305 | 278/18723 | 2.71e-20 | 4.19e-18 | 184 |
GO:190305020 | Oral cavity | OSCC | regulation of proteolysis involved in cellular protein catabolic process | 152/7305 | 221/18723 | 2.16e-19 | 3.15e-17 | 152 |
GO:00510287 | Oral cavity | OSCC | mRNA transport | 101/7305 | 130/18723 | 2.19e-19 | 3.15e-17 | 101 |
GO:005065714 | Oral cavity | OSCC | nucleic acid transport | 120/7305 | 163/18723 | 2.31e-19 | 3.18e-17 | 120 |
GO:005065814 | Oral cavity | OSCC | RNA transport | 120/7305 | 163/18723 | 2.31e-19 | 3.18e-17 | 120 |
GO:005123614 | Oral cavity | OSCC | establishment of RNA localization | 121/7305 | 166/18723 | 6.38e-19 | 8.24e-17 | 121 |
GO:005068417 | Oral cavity | OSCC | regulation of mRNA processing | 104/7305 | 137/18723 | 1.32e-18 | 1.58e-16 | 104 |
GO:006113620 | Oral cavity | OSCC | regulation of proteasomal protein catabolic process | 132/7305 | 187/18723 | 1.57e-18 | 1.81e-16 | 132 |
GO:000640218 | Oral cavity | OSCC | mRNA catabolic process | 156/7305 | 232/18723 | 2.13e-18 | 2.37e-16 | 156 |
GO:000641720 | Oral cavity | OSCC | regulation of translation | 274/7305 | 468/18723 | 4.39e-18 | 4.63e-16 | 274 |
GO:001593114 | Oral cavity | OSCC | nucleobase-containing compound transport | 150/7305 | 222/18723 | 4.86e-18 | 5.04e-16 | 150 |
GO:003465517 | Oral cavity | OSCC | nucleobase-containing compound catabolic process | 244/7305 | 407/18723 | 5.38e-18 | 5.49e-16 | 244 |
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 |
FMR1 | SNV | Missense_Mutation | | c.763N>G | p.Leu255Val | p.L255V | Q06787 | protein_coding | tolerated(0.08) | possibly_damaging(0.856) | TCGA-5L-AAT1-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Hormone Therapy | letrozol | SD |
FMR1 | SNV | Missense_Mutation | novel | c.215N>C | p.Asn72Thr | p.N72T | Q06787 | protein_coding | tolerated(0.05) | probably_damaging(0.994) | TCGA-A1-A0SH-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | tc | SD |
FMR1 | SNV | Missense_Mutation | | c.1822N>T | p.Gly608Cys | p.G608C | Q06787 | protein_coding | deleterious_low_confidence(0.02) | probably_damaging(0.935) | TCGA-A7-A56D-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | arimidex | SD |
FMR1 | SNV | Missense_Mutation | rs782738200 | c.1580G>A | p.Arg527His | p.R527H | Q06787 | protein_coding | deleterious(0.01) | probably_damaging(0.999) | TCGA-B6-A401-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cyclophosphamide | SD |
FMR1 | SNV | Missense_Mutation | | c.1525N>A | p.Glu509Lys | p.E509K | Q06787 | protein_coding | tolerated(0.11) | probably_damaging(0.998) | TCGA-BH-A0HA-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
FMR1 | SNV | Missense_Mutation | | c.859N>G | p.Gln287Glu | p.Q287E | Q06787 | protein_coding | deleterious(0.03) | benign(0.214) | TCGA-C8-A12K-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
FMR1 | SNV | Missense_Mutation | novel | c.283N>A | p.Glu95Lys | p.E95K | Q06787 | protein_coding | tolerated(0.09) | benign(0.03) | TCGA-D8-A1JA-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | adriamycin | PD |
FMR1 | SNV | Missense_Mutation | | c.690G>T | p.Met230Ile | p.M230I | Q06787 | protein_coding | tolerated(0.05) | possibly_damaging(0.519) | TCGA-D8-A1JD-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | SD |
FMR1 | SNV | Missense_Mutation | | c.691G>A | p.Gly231Ser | p.G231S | Q06787 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-D8-A1JD-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | SD |
FMR1 | SNV | Missense_Mutation | | c.1525N>A | p.Glu509Lys | p.E509K | Q06787 | protein_coding | tolerated(0.11) | probably_damaging(0.998) | TCGA-EK-A2RJ-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |