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:005109822 | Liver | HCC | regulation of binding | 225/7958 | 363/18723 | 3.78e-14 | 2.37e-12 | 225 |
GO:005102811 | Liver | HCC | mRNA transport | 97/7958 | 130/18723 | 9.00e-14 | 5.23e-12 | 97 |
GO:004348721 | Liver | HCC | regulation of RNA stability | 119/7958 | 170/18723 | 3.20e-13 | 1.71e-11 | 119 |
GO:004440322 | Liver | HCC | biological process involved in symbiotic interaction | 183/7958 | 290/18723 | 9.13e-13 | 4.59e-11 | 183 |
GO:190305221 | Liver | HCC | positive regulation of proteolysis involved in cellular protein catabolic process | 96/7958 | 133/18723 | 3.47e-12 | 1.57e-10 | 96 |
GO:004348821 | Liver | HCC | regulation of mRNA stability | 110/7958 | 158/18723 | 4.36e-12 | 1.93e-10 | 110 |
GO:006101321 | Liver | HCC | regulation of mRNA catabolic process | 114/7958 | 166/18723 | 7.38e-12 | 3.12e-10 | 114 |
GO:000989522 | Liver | HCC | negative regulation of catabolic process | 196/7958 | 320/18723 | 7.98e-12 | 3.35e-10 | 196 |
GO:004572712 | Liver | HCC | positive regulation of translation | 97/7958 | 136/18723 | 8.51e-12 | 3.55e-10 | 97 |
GO:001907922 | Liver | HCC | viral genome replication | 94/7958 | 131/18723 | 1.02e-11 | 4.18e-10 | 94 |
GO:190180012 | Liver | HCC | positive regulation of proteasomal protein catabolic process | 84/7958 | 114/18723 | 1.28e-11 | 5.21e-10 | 84 |
GO:003133022 | Liver | HCC | negative regulation of cellular catabolic process | 164/7958 | 262/18723 | 3.52e-11 | 1.35e-09 | 164 |
GO:003425022 | Liver | HCC | positive regulation of cellular amide metabolic process | 110/7958 | 162/18723 | 5.14e-11 | 1.92e-09 | 110 |
GO:000644622 | Liver | HCC | regulation of translational initiation | 62/7958 | 79/18723 | 6.85e-11 | 2.48e-09 | 62 |
GO:004802422 | Liver | HCC | regulation of mRNA splicing, via spliceosome | 74/7958 | 101/18723 | 3.29e-10 | 1.10e-08 | 74 |
GO:005079212 | Liver | HCC | regulation of viral process | 109/7958 | 164/18723 | 4.52e-10 | 1.45e-08 | 109 |
GO:004852411 | Liver | HCC | positive regulation of viral process | 52/7958 | 65/18723 | 6.70e-10 | 2.11e-08 | 52 |
GO:000961511 | Liver | HCC | response to virus | 210/7958 | 367/18723 | 7.32e-09 | 1.86e-07 | 210 |
GO:003105621 | Liver | HCC | regulation of histone modification | 99/7958 | 152/18723 | 1.40e-08 | 3.40e-07 | 99 |
GO:005109922 | Liver | HCC | positive regulation of binding | 108/7958 | 173/18723 | 9.22e-08 | 1.83e-06 | 108 |
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 |