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:007121427 | Thyroid | ATC | cellular response to abiotic stimulus | 169/6293 | 331/18723 | 3.24e-11 | 1.08e-09 | 169 |
GO:010400427 | Thyroid | ATC | cellular response to environmental stimulus | 169/6293 | 331/18723 | 3.24e-11 | 1.08e-09 | 169 |
GO:001593122 | Thyroid | ATC | nucleobase-containing compound transport | 122/6293 | 222/18723 | 4.30e-11 | 1.41e-09 | 122 |
GO:005102822 | Thyroid | ATC | mRNA transport | 80/6293 | 130/18723 | 6.13e-11 | 1.99e-09 | 80 |
GO:000644632 | Thyroid | ATC | regulation of translational initiation | 55/6293 | 79/18723 | 6.38e-11 | 2.06e-09 | 55 |
GO:004348725 | Thyroid | ATC | regulation of RNA stability | 97/6293 | 170/18723 | 2.68e-10 | 7.70e-09 | 97 |
GO:006101325 | Thyroid | ATC | regulation of mRNA catabolic process | 95/6293 | 166/18723 | 3.27e-10 | 9.16e-09 | 95 |
GO:003133035 | Thyroid | ATC | negative regulation of cellular catabolic process | 136/6293 | 262/18723 | 6.47e-10 | 1.71e-08 | 136 |
GO:001907929 | Thyroid | ATC | viral genome replication | 78/6293 | 131/18723 | 9.92e-10 | 2.55e-08 | 78 |
GO:004348826 | Thyroid | ATC | regulation of mRNA stability | 90/6293 | 158/18723 | 1.31e-09 | 3.30e-08 | 90 |
GO:000989529 | Thyroid | ATC | negative regulation of catabolic process | 159/6293 | 320/18723 | 1.61e-09 | 3.99e-08 | 159 |
GO:0030100111 | Thyroid | ATC | regulation of endocytosis | 113/6293 | 211/18723 | 1.71e-09 | 4.22e-08 | 113 |
GO:007147825 | Thyroid | ATC | cellular response to radiation | 101/6293 | 186/18723 | 4.67e-09 | 1.04e-07 | 101 |
GO:000941115 | Thyroid | ATC | response to UV | 84/6293 | 149/18723 | 8.97e-09 | 1.90e-07 | 84 |
GO:003105616 | Thyroid | ATC | regulation of histone modification | 85/6293 | 152/18723 | 1.23e-08 | 2.55e-07 | 85 |
GO:005079228 | Thyroid | ATC | regulation of viral process | 90/6293 | 164/18723 | 1.61e-08 | 3.23e-07 | 90 |
GO:000931426 | Thyroid | ATC | response to radiation | 210/6293 | 456/18723 | 1.69e-08 | 3.39e-07 | 210 |
GO:0045807111 | Thyroid | ATC | positive regulation of endocytosis | 61/6293 | 100/18723 | 1.80e-08 | 3.59e-07 | 61 |
GO:000038026 | Thyroid | ATC | alternative mRNA splicing, via spliceosome | 50/6293 | 77/18723 | 1.84e-08 | 3.65e-07 | 50 |
GO:004852424 | Thyroid | ATC | positive regulation of viral process | 44/6293 | 65/18723 | 2.00e-08 | 3.93e-07 | 44 |
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 |