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/LRRC8A_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/LRRC8A_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/LRRC8A_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/LRRC8A_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:0042593110 | Thyroid | PTC | glucose homeostasis | 102/5968 | 258/18723 | 5.34e-03 | 2.46e-02 | 102 |
GO:007169216 | Thyroid | PTC | protein localization to extracellular region | 139/5968 | 368/18723 | 8.95e-03 | 3.72e-02 | 139 |
GO:000930618 | Thyroid | PTC | protein secretion | 135/5968 | 359/18723 | 1.16e-02 | 4.58e-02 | 135 |
GO:003559218 | Thyroid | PTC | establishment of protein localization to extracellular region | 135/5968 | 360/18723 | 1.28e-02 | 4.95e-02 | 135 |
GO:190495128 | Thyroid | ATC | positive regulation of establishment of protein localization | 177/6293 | 319/18723 | 5.43e-16 | 4.29e-14 | 177 |
GO:005122234 | Thyroid | ATC | positive regulation of protein transport | 165/6293 | 303/18723 | 4.94e-14 | 2.69e-12 | 165 |
GO:003253526 | Thyroid | ATC | regulation of cellular component size | 191/6293 | 383/18723 | 2.51e-11 | 8.69e-10 | 191 |
GO:001593122 | Thyroid | ATC | nucleobase-containing compound transport | 122/6293 | 222/18723 | 4.30e-11 | 1.41e-09 | 122 |
GO:000836122 | Thyroid | ATC | regulation of cell size | 89/6293 | 181/18723 | 1.01e-05 | 1.00e-04 | 89 |
GO:000697016 | Thyroid | ATC | response to osmotic stress | 45/6293 | 84/18723 | 1.27e-04 | 9.03e-04 | 45 |
GO:007169223 | Thyroid | ATC | protein localization to extracellular region | 150/6293 | 368/18723 | 2.25e-03 | 1.05e-02 | 150 |
GO:003350024 | Thyroid | ATC | carbohydrate homeostasis | 109/6293 | 259/18723 | 2.56e-03 | 1.18e-02 | 109 |
GO:000930623 | Thyroid | ATC | protein secretion | 146/6293 | 359/18723 | 2.83e-03 | 1.29e-02 | 146 |
GO:003559223 | Thyroid | ATC | establishment of protein localization to extracellular region | 146/6293 | 360/18723 | 3.20e-03 | 1.44e-02 | 146 |
GO:004259325 | Thyroid | ATC | glucose homeostasis | 108/6293 | 258/18723 | 3.27e-03 | 1.47e-02 | 108 |
GO:000167825 | Thyroid | ATC | cellular glucose homeostasis | 75/6293 | 172/18723 | 3.89e-03 | 1.69e-02 | 75 |
GO:005070815 | Thyroid | ATC | regulation of protein secretion | 109/6293 | 268/18723 | 8.87e-03 | 3.36e-02 | 109 |
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 |
LRRC8A | SNV | Missense_Mutation | novel | c.706N>A | p.Glu236Lys | p.E236K | Q8IWT6 | protein_coding | deleterious(0) | probably_damaging(0.993) | TCGA-3C-AALI-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unspecific | Poly E | Complete Response |
LRRC8A | SNV | Missense_Mutation | | c.1826C>G | p.Ser609Cys | p.S609C | Q8IWT6 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-A1-A0SH-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | tc | SD |
LRRC8A | SNV | Missense_Mutation | novel | c.1346A>G | p.Glu449Gly | p.E449G | Q8IWT6 | protein_coding | deleterious(0) | possibly_damaging(0.787) | TCGA-AO-A128-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | SD |
LRRC8A | SNV | Missense_Mutation | | c.1784A>C | p.Glu595Ala | p.E595A | Q8IWT6 | protein_coding | tolerated(0.18) | benign(0.195) | TCGA-AO-A128-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | SD |
LRRC8A | SNV | Missense_Mutation | | c.1789N>C | p.Glu597Gln | p.E597Q | Q8IWT6 | protein_coding | deleterious(0) | benign(0.209) | TCGA-AR-A1AO-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | SD |
LRRC8A | insertion | Frame_Shift_Ins | novel | c.402_403insTTTT | p.Ile135PhefsTer70 | p.I135Ffs*70 | Q8IWT6 | protein_coding | | | TCGA-A8-A06Q-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
LRRC8A | insertion | Frame_Shift_Ins | novel | c.403_404insGGCTGAGACTGAGGTTT | p.Ile135ArgfsTer33 | p.I135Rfs*33 | Q8IWT6 | protein_coding | | | TCGA-A8-A06Q-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
LRRC8A | insertion | Frame_Shift_Ins | novel | c.110_111insTCCCA | p.Met37IlefsTer18 | p.M37Ifs*18 | Q8IWT6 | protein_coding | | | TCGA-BH-A0HX-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adrimycin | SD |
LRRC8A | insertion | Nonsense_Mutation | novel | c.111_112insTGAACTGGGAGTTTTAAATGTGTCCCTCTGGTCA | p.Ile38Ter | p.I38* | Q8IWT6 | protein_coding | | | TCGA-BH-A0HX-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adrimycin | SD |
LRRC8A | SNV | Missense_Mutation | | c.1416N>T | p.Lys472Asn | p.K472N | Q8IWT6 | protein_coding | deleterious(0.01) | benign(0.006) | TCGA-C5-A7UE-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | SD |