Tissue | Expression Dynamics | Abbreviation |
Colorectum (GSE201348) | ![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/Colorectum/Becker/SLC6A6_pca_on_diff_genes.png) | FAP: Familial adenomatous polyposis |
CRC: Colorectal cancer |
Colorectum (HTA11) | ![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/Colorectum/Chen/SLC6A6_pca_on_diff_genes.png) | AD: Adenomas |
SER: Sessile serrated lesions |
MSI-H: Microsatellite-high colorectal cancer |
MSS: Microsatellite stable colorectal cancer |
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/SLC6A6_pca_on_diff_genes.png) | ESCC: Esophageal squamous cell carcinoma |
HGIN: High-grade intraepithelial neoplasias |
LGIN: Low-grade intraepithelial neoplasias |
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/SLC6A6_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:0150104 | Colorectum | MSS | transport across blood-brain barrier | 28/3467 | 87/18723 | 1.54e-03 | 1.41e-02 | 28 |
GO:0010232 | Colorectum | MSS | vascular transport | 28/3467 | 88/18723 | 1.87e-03 | 1.64e-02 | 28 |
GO:0035725 | Colorectum | FAP | sodium ion transmembrane transport | 44/2622 | 178/18723 | 9.31e-05 | 1.60e-03 | 44 |
GO:01501041 | Colorectum | FAP | transport across blood-brain barrier | 25/2622 | 87/18723 | 2.63e-04 | 3.59e-03 | 25 |
GO:00102321 | Colorectum | FAP | vascular transport | 25/2622 | 88/18723 | 3.19e-04 | 4.12e-03 | 25 |
GO:0006814 | Colorectum | FAP | sodium ion transport | 54/2622 | 245/18723 | 3.98e-04 | 4.85e-03 | 54 |
GO:0003018 | Colorectum | FAP | vascular process in circulatory system | 56/2622 | 263/18723 | 7.67e-04 | 8.12e-03 | 56 |
GO:00357251 | Colorectum | CRC | sodium ion transmembrane transport | 39/2078 | 178/18723 | 2.30e-05 | 6.60e-04 | 39 |
GO:00068141 | Colorectum | CRC | sodium ion transport | 49/2078 | 245/18723 | 3.01e-05 | 7.86e-04 | 49 |
GO:0050804 | Colorectum | CRC | modulation of chemical synaptic transmission | 70/2078 | 439/18723 | 1.15e-03 | 1.33e-02 | 70 |
GO:0099177 | Colorectum | CRC | regulation of trans-synaptic signaling | 70/2078 | 440/18723 | 1.23e-03 | 1.38e-02 | 70 |
GO:00030181 | Colorectum | CRC | vascular process in circulatory system | 45/2078 | 263/18723 | 2.10e-03 | 2.08e-02 | 45 |
GO:01501042 | Colorectum | CRC | transport across blood-brain barrier | 18/2078 | 87/18723 | 6.50e-03 | 4.69e-02 | 18 |
GO:00702654 | Esophagus | ESCC | necrotic cell death | 39/8552 | 62/18723 | 4.68e-03 | 1.82e-02 | 39 |
GO:00702656 | Thyroid | PTC | necrotic cell death | 29/5968 | 62/18723 | 9.96e-03 | 4.07e-02 | 29 |
GO:007026512 | Thyroid | ATC | necrotic cell death | 30/6293 | 62/18723 | 1.12e-02 | 4.00e-02 | 30 |
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 |
SLC6A6 | SNV | Missense_Mutation | rs776981870 | c.2125N>T | p.Leu709Phe | p.L709F | | protein_coding | tolerated_low_confidence(0.05) | possibly_damaging(0.877) | TCGA-3C-AALI-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unspecific | Poly E | Complete Response |
SLC6A6 | SNV | Missense_Mutation | novel | c.444N>T | p.Lys148Asn | p.K148N | | protein_coding | deleterious(0.02) | possibly_damaging(0.798) | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
SLC6A6 | SNV | Missense_Mutation | | c.1348N>A | p.Gly450Ser | p.G450S | | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-AO-A128-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | SD |
SLC6A6 | SNV | Missense_Mutation | novel | c.1147N>T | p.Ile383Phe | p.I383F | | protein_coding | tolerated(0.44) | possibly_damaging(0.492) | TCGA-B6-A0I1-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
SLC6A6 | SNV | Missense_Mutation | | c.1472N>G | p.Leu491Arg | p.L491R | | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-D8-A1XK-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicine+cyclophosphamide | SD |
SLC6A6 | SNV | Missense_Mutation | | c.1732T>C | p.Phe578Leu | p.F578L | | protein_coding | tolerated(0.34) | benign(0.06) | TCGA-EW-A1P4-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | docetaxel | SD |
SLC6A6 | insertion | Nonsense_Mutation | novel | c.533_534insCTCTGAGGCTTGAAGTCCCTGGTAGAT | p.Gly178_Ala179insSerGluAlaTerSerProTrpTerIle | p.G178_A179insSEA*SPW*I | | protein_coding | | | TCGA-A8-A099-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Hormone Therapy | exemestane | SD |
SLC6A6 | insertion | In_Frame_Ins | novel | c.1255_1256insCTC | p.Tyr419delinsSerHis | p.Y419delinsSH | | protein_coding | | | TCGA-AO-A0J5-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Other, specify in notesBisphosphonate | zoledronic | PD |
SLC6A6 | insertion | Nonsense_Mutation | novel | c.1256_1257insGTAAATCTGTGAGGTGGGCTGGCGCTGTGGCT | p.Tyr419Ter | p.Y419* | | protein_coding | | | TCGA-AO-A0J5-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Other, specify in notesBisphosphonate | zoledronic | PD |
SLC6A6 | insertion | In_Frame_Ins | novel | c.991_992insGGGTTGGTGACTGTCCCGTGCCAATTATCCTTAAAACCGTTTACC | p.Val331delinsGlyValGlyAspCysProValProIleIleLeuLysThrValTyrLeu | p.V331delinsGVGDCPVPIILKTVYL | | protein_coding | | | TCGA-BH-A0HY-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | taxotere | CR |