Tissue | Expression Dynamics | Abbreviation |
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/SLC4A5_pca_on_diff_genes.png) | HCC: Hepatocellular carcinoma |
NAFLD: Non-alcoholic fatty liver disease |
Lung | ![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/Lung/SLC4A5_pca_on_diff_genes.png) | AAH: Atypical adenomatous hyperplasia |
AIS: Adenocarcinoma in situ |
IAC: Invasive lung adenocarcinoma |
MIA: Minimally invasive adenocarcinoma |
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/SLC4A5_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:0051646 | Liver | HCC | mitochondrion localization | 34/7958 | 50/18723 | 2.38e-04 | 1.79e-03 | 34 |
GO:005087822 | Liver | HCC | regulation of body fluid levels | 191/7958 | 379/18723 | 1.06e-03 | 6.11e-03 | 191 |
GO:000206422 | Liver | HCC | epithelial cell development | 114/7958 | 220/18723 | 3.19e-03 | 1.47e-02 | 114 |
GO:0048311 | Liver | HCC | mitochondrion distribution | 12/7958 | 16/18723 | 8.74e-03 | 3.40e-02 | 12 |
GO:000206413 | Lung | AIS | epithelial cell development | 48/1849 | 220/18723 | 1.06e-07 | 1.18e-05 | 48 |
GO:00508788 | Lung | AIS | regulation of body fluid levels | 57/1849 | 379/18723 | 8.60e-04 | 1.17e-02 | 57 |
GO:00075894 | Lung | AIS | body fluid secretion | 18/1849 | 93/18723 | 3.99e-03 | 3.65e-02 | 18 |
GO:0002064112 | Thyroid | PTC | epithelial cell development | 101/5968 | 220/18723 | 8.53e-06 | 9.74e-05 | 101 |
GO:00516465 | Thyroid | PTC | mitochondrion localization | 24/5968 | 50/18723 | 1.25e-02 | 4.88e-02 | 24 |
GO:000206428 | Thyroid | ATC | epithelial cell development | 103/6293 | 220/18723 | 3.06e-05 | 2.55e-04 | 103 |
GO:0050878112 | Thyroid | ATC | regulation of body fluid levels | 149/6293 | 379/18723 | 1.08e-02 | 3.90e-02 | 149 |
GO:005164612 | Thyroid | ATC | mitochondrion localization | 25/6293 | 50/18723 | 1.20e-02 | 4.27e-02 | 25 |
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 |
SLC4A5 | SNV | Missense_Mutation | novel | c.3122N>C | p.Ile1041Thr | p.I1041T | Q9BY07 | protein_coding | deleterious(0) | probably_damaging(0.996) | TCGA-D1-A175-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Chemotherapy | paclitaxel | SD |
SLC4A5 | SNV | Missense_Mutation | novel | c.1030C>A | p.Leu344Met | p.L344M | Q9BY07 | protein_coding | deleterious(0.02) | probably_damaging(1) | TCGA-D1-A17Q-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
SLC4A5 | SNV | Missense_Mutation | novel | c.2240C>T | p.Ser747Phe | p.S747F | Q9BY07 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-DF-A2KU-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | Unknown | I/II | Unknown | Unknown | SD |
SLC4A5 | SNV | Missense_Mutation | | c.1975N>A | p.Ala659Thr | p.A659T | Q9BY07 | protein_coding | tolerated(0.06) | benign(0.031) | TCGA-DI-A1BU-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Chemotherapy | paclitaxel | SD |
SLC4A5 | SNV | Missense_Mutation | novel | c.562G>T | p.Asp188Tyr | p.D188Y | Q9BY07 | protein_coding | deleterious(0) | probably_damaging(0.994) | TCGA-E6-A1LX-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
SLC4A5 | SNV | Missense_Mutation | rs140446442 | c.806N>A | p.Arg269His | p.R269H | Q9BY07 | protein_coding | tolerated(0.21) | benign(0.003) | TCGA-EC-A24G-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | SD |
SLC4A5 | SNV | Missense_Mutation | novel | c.280G>A | p.Ala94Thr | p.A94T | Q9BY07 | protein_coding | tolerated(0.14) | possibly_damaging(0.697) | TCGA-EO-A22R-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
SLC4A5 | SNV | Missense_Mutation | novel | c.2563G>T | p.Val855Phe | p.V855F | Q9BY07 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-EO-A22X-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unspecific | Carboplatin | Complete Response |
SLC4A5 | SNV | Missense_Mutation | novel | c.2273C>T | p.Thr758Ile | p.T758I | Q9BY07 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-EO-A22X-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unspecific | Carboplatin | Complete Response |
SLC4A5 | SNV | Missense_Mutation | novel | c.1732N>A | p.Leu578Ile | p.L578I | Q9BY07 | protein_coding | tolerated(0.05) | probably_damaging(0.999) | TCGA-EO-A3AV-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | carboplatin | CR |