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:0031331210 | Thyroid | ATC | positive regulation of cellular catabolic process | 258/6293 | 427/18723 | 2.09e-30 | 1.65e-27 | 258 |
GO:004217635 | Thyroid | ATC | regulation of protein catabolic process | 239/6293 | 391/18723 | 2.63e-29 | 1.85e-26 | 239 |
GO:190336235 | Thyroid | ATC | regulation of cellular protein catabolic process | 168/6293 | 255/18723 | 3.50e-26 | 1.58e-23 | 168 |
GO:000037534 | Thyroid | ATC | RNA splicing, via transesterification reactions | 200/6293 | 324/18723 | 1.75e-25 | 7.39e-23 | 200 |
GO:001603234 | Thyroid | ATC | viral process | 241/6293 | 415/18723 | 5.50e-25 | 2.04e-22 | 241 |
GO:000037734 | Thyroid | ATC | RNA splicing, via transesterification reactions with bulged adenosine as nucleophile | 197/6293 | 320/18723 | 6.54e-25 | 2.18e-22 | 197 |
GO:000039834 | Thyroid | ATC | mRNA splicing, via spliceosome | 197/6293 | 320/18723 | 6.54e-25 | 2.18e-22 | 197 |
GO:190331134 | Thyroid | ATC | regulation of mRNA metabolic process | 181/6293 | 288/18723 | 1.75e-24 | 5.54e-22 | 181 |
GO:190305035 | Thyroid | ATC | regulation of proteolysis involved in cellular protein catabolic process | 146/6293 | 221/18723 | 4.18e-23 | 1.20e-20 | 146 |
GO:006113633 | Thyroid | ATC | regulation of proteasomal protein catabolic process | 128/6293 | 187/18723 | 1.63e-22 | 4.30e-20 | 128 |
GO:0045732210 | Thyroid | ATC | positive regulation of protein catabolic process | 148/6293 | 231/18723 | 1.93e-21 | 4.36e-19 | 148 |
GO:190336434 | Thyroid | ATC | positive regulation of cellular protein catabolic process | 109/6293 | 155/18723 | 8.26e-21 | 1.49e-18 | 109 |
GO:000640326 | Thyroid | ATC | RNA localization | 132/6293 | 201/18723 | 1.13e-20 | 1.93e-18 | 132 |
GO:190180027 | Thyroid | ATC | positive regulation of proteasomal protein catabolic process | 85/6293 | 114/18723 | 3.70e-19 | 5.20e-17 | 85 |
GO:005068434 | Thyroid | ATC | regulation of mRNA processing | 97/6293 | 137/18723 | 5.28e-19 | 7.25e-17 | 97 |
GO:000640127 | Thyroid | ATC | RNA catabolic process | 165/6293 | 278/18723 | 8.45e-19 | 1.14e-16 | 165 |
GO:005109834 | Thyroid | ATC | regulation of binding | 203/6293 | 363/18723 | 1.18e-18 | 1.55e-16 | 203 |
GO:190305227 | Thyroid | ATC | positive regulation of proteolysis involved in cellular protein catabolic process | 93/6293 | 133/18723 | 1.06e-17 | 1.18e-15 | 93 |
GO:001657017 | Thyroid | ATC | histone modification | 243/6293 | 463/18723 | 2.23e-17 | 2.27e-15 | 243 |
GO:004348435 | Thyroid | ATC | regulation of RNA splicing | 100/6293 | 148/18723 | 2.75e-17 | 2.72e-15 | 100 |
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 |