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:00601487 | Esophagus | ESCC | positive regulation of posttranscriptional gene silencing | 24/8552 | 31/18723 | 3.19e-04 | 1.89e-03 | 24 |
GO:00609667 | Esophagus | ESCC | regulation of gene silencing by RNA | 37/8552 | 53/18723 | 3.25e-04 | 1.92e-03 | 37 |
GO:012003218 | Esophagus | ESCC | regulation of plasma membrane bounded cell projection assembly | 108/8552 | 186/18723 | 4.37e-04 | 2.46e-03 | 108 |
GO:00714821 | Esophagus | ESCC | cellular response to light stimulus | 75/8552 | 123/18723 | 4.45e-04 | 2.50e-03 | 75 |
GO:00601479 | Esophagus | ESCC | regulation of posttranscriptional gene silencing | 36/8552 | 52/18723 | 5.05e-04 | 2.79e-03 | 36 |
GO:20006377 | Esophagus | ESCC | positive regulation of gene silencing by miRNA | 23/8552 | 30/18723 | 5.47e-04 | 3.00e-03 | 23 |
GO:004594714 | Esophagus | ESCC | negative regulation of translational initiation | 16/8552 | 19/18723 | 6.45e-04 | 3.43e-03 | 16 |
GO:006096410 | Esophagus | ESCC | regulation of gene silencing by miRNA | 34/8552 | 49/18723 | 6.74e-04 | 3.56e-03 | 34 |
GO:000038119 | Esophagus | ESCC | regulation of alternative mRNA splicing, via spliceosome | 40/8552 | 60/18723 | 8.30e-04 | 4.28e-03 | 40 |
GO:01200347 | Esophagus | ESCC | positive regulation of plasma membrane bounded cell projection assembly | 64/8552 | 105/18723 | 1.15e-03 | 5.70e-03 | 64 |
GO:003582114 | Esophagus | ESCC | modulation of process of other organism | 64/8552 | 106/18723 | 1.61e-03 | 7.50e-03 | 64 |
GO:004825916 | Esophagus | ESCC | regulation of receptor-mediated endocytosis | 66/8552 | 110/18723 | 1.72e-03 | 7.96e-03 | 66 |
GO:004478815 | Esophagus | ESCC | modulation by host of viral process | 22/8552 | 30/18723 | 1.98e-03 | 8.90e-03 | 22 |
GO:007124117 | Esophagus | ESCC | cellular response to inorganic substance | 125/8552 | 226/18723 | 2.17e-03 | 9.67e-03 | 125 |
GO:005170214 | Esophagus | ESCC | biological process involved in interaction with symbiont | 57/8552 | 94/18723 | 2.46e-03 | 1.07e-02 | 57 |
GO:00165721 | Esophagus | ESCC | histone phosphorylation | 27/8552 | 39/18723 | 2.52e-03 | 1.08e-02 | 27 |
GO:004826010 | Esophagus | ESCC | positive regulation of receptor-mediated endocytosis | 34/8552 | 52/18723 | 3.26e-03 | 1.35e-02 | 34 |
GO:190236916 | Esophagus | ESCC | negative regulation of RNA catabolic process | 46/8552 | 75/18723 | 4.54e-03 | 1.78e-02 | 46 |
GO:001635816 | Esophagus | ESCC | dendrite development | 130/8552 | 243/18723 | 8.33e-03 | 2.95e-02 | 130 |
GO:00331271 | Esophagus | ESCC | regulation of histone phosphorylation | 10/8552 | 12/18723 | 8.94e-03 | 3.12e-02 | 10 |
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 |