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/SPG7_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/SPG7_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/SPG7_pca_on_diff_genes.png) | AAH: Atypical adenomatous hyperplasia |
AIS: Adenocarcinoma in situ |
IAC: Invasive lung adenocarcinoma |
MIA: Minimally invasive adenocarcinoma |
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/SPG7_pca_on_diff_genes.png) | EOLP: Erosive Oral lichen planus |
LP: leukoplakia |
NEOLP: Non-erosive oral lichen planus |
OSCC: Oral squamous cell carcinoma |
Skin | ![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/Skin/SPG7_pca_on_diff_genes.png) | AK: Actinic keratosis |
cSCC: Cutaneous squamous cell carcinoma |
SCCIS:squamous cell carcinoma in situ |
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/SPG7_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:009055918 | Thyroid | PTC | regulation of membrane permeability | 41/5968 | 78/18723 | 1.18e-04 | 9.44e-04 | 41 |
GO:000808819 | Thyroid | PTC | axo-dendritic transport | 39/5968 | 75/18723 | 2.31e-04 | 1.67e-03 | 39 |
GO:00164859 | Thyroid | PTC | protein processing | 95/5968 | 225/18723 | 6.60e-04 | 4.15e-03 | 95 |
GO:00989305 | Thyroid | PTC | axonal transport | 33/5968 | 64/18723 | 8.26e-04 | 5.11e-03 | 33 |
GO:00349822 | Thyroid | PTC | mitochondrial protein processing | 10/5968 | 13/18723 | 1.11e-03 | 6.51e-03 | 10 |
GO:003579410 | Thyroid | PTC | positive regulation of mitochondrial membrane permeability | 23/5968 | 43/18723 | 2.66e-03 | 1.35e-02 | 23 |
GO:190268615 | Thyroid | PTC | mitochondrial outer membrane permeabilization involved in programmed cell death | 21/5968 | 40/18723 | 5.37e-03 | 2.47e-02 | 21 |
GO:190571010 | Thyroid | PTC | positive regulation of membrane permeability | 24/5968 | 48/18723 | 6.73e-03 | 2.90e-02 | 24 |
GO:000683929 | Thyroid | ATC | mitochondrial transport | 151/6293 | 254/18723 | 2.07e-17 | 2.14e-15 | 151 |
GO:003070532 | Thyroid | ATC | cytoskeleton-dependent intracellular transport | 105/6293 | 195/18723 | 4.31e-09 | 9.70e-08 | 105 |
GO:0007006111 | Thyroid | ATC | mitochondrial membrane organization | 69/6293 | 116/18723 | 9.55e-09 | 2.00e-07 | 69 |
GO:001097022 | Thyroid | ATC | transport along microtubule | 83/6293 | 155/18723 | 2.38e-07 | 3.70e-06 | 83 |
GO:0051604110 | Thyroid | ATC | protein maturation | 136/6293 | 294/18723 | 4.00e-06 | 4.42e-05 | 136 |
GO:009911112 | Thyroid | ATC | microtubule-based transport | 91/6293 | 190/18723 | 2.97e-05 | 2.48e-04 | 91 |
GO:000808822 | Thyroid | ATC | axo-dendritic transport | 42/6293 | 75/18723 | 5.50e-05 | 4.24e-04 | 42 |
GO:0046902110 | Thyroid | ATC | regulation of mitochondrial membrane permeability | 36/6293 | 63/18723 | 1.05e-04 | 7.55e-04 | 36 |
GO:009893012 | Thyroid | ATC | axonal transport | 36/6293 | 64/18723 | 1.62e-04 | 1.11e-03 | 36 |
GO:009055919 | Thyroid | ATC | regulation of membrane permeability | 42/6293 | 78/18723 | 1.82e-04 | 1.23e-03 | 42 |
GO:001648515 | Thyroid | ATC | protein processing | 100/6293 | 225/18723 | 4.39e-04 | 2.62e-03 | 100 |
GO:00349821 | Thyroid | ATC | mitochondrial protein processing | 10/6293 | 13/18723 | 1.77e-03 | 8.71e-03 | 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 |
SPG7 | SNV | Missense_Mutation | novel | c.367N>A | p.Glu123Lys | p.E123K | Q9UQ90 | protein_coding | tolerated(0.33) | benign(0.024) | TCGA-AC-A6IW-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
SPG7 | SNV | Missense_Mutation | novel | c.2233N>A | p.Ala745Thr | p.A745T | Q9UQ90 | protein_coding | tolerated(0.29) | possibly_damaging(0.491) | TCGA-AN-A0AK-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
SPG7 | SNV | Missense_Mutation | novel | c.1553N>T | p.Gly518Val | p.G518V | Q9UQ90 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-BH-A0B6-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
SPG7 | SNV | Missense_Mutation | novel | c.877N>A | p.Ala293Thr | p.A293T | Q9UQ90 | protein_coding | deleterious(0.01) | possibly_damaging(0.677) | TCGA-BH-A0HF-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | arimidex | SD |
SPG7 | insertion | Nonsense_Mutation | novel | c.359_360insCTA | p.Ala120_Pro121insTer | p.A120_P121ins* | Q9UQ90 | protein_coding | | | TCGA-A8-A08H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
SPG7 | insertion | Frame_Shift_Ins | novel | c.360_361insAACT | p.Pro121AsnfsTer3 | p.P121Nfs*3 | Q9UQ90 | protein_coding | | | TCGA-A8-A08H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
SPG7 | insertion | In_Frame_Ins | novel | c.698_699insCCTGCTCCTCACTGAAGTGACCTCAGCGAATGAAGTGTG | p.Leu233_Asn234insLeuLeuLeuThrGluValThrSerAlaAsnGluValTrp | p.L233_N234insLLLTEVTSANEVW | Q9UQ90 | protein_coding | | | TCGA-AO-A0JB-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | cyclophosphamide | SD |
SPG7 | insertion | Frame_Shift_Ins | novel | c.1431_1432insCCCTCAGCCTCCTCAGAGCGTTCAAGGTCCTGTCCTAAGAACATGG | p.Asp478ProfsTer28 | p.D478Pfs*28 | Q9UQ90 | protein_coding | | | TCGA-BH-A0B4-01 | Breast | breast invasive carcinoma | Male | >=65 | III/IV | Hormone Therapy | tamoxiphen | SD |
SPG7 | insertion | Frame_Shift_Ins | rs760818649 | c.1053dupC | p.Gly352ArgfsTer44 | p.G352Rfs*44 | Q9UQ90 | protein_coding | | | TCGA-BH-A18G-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
SPG7 | SNV | Missense_Mutation | novel | c.953N>G | p.Lys318Arg | p.K318R | Q9UQ90 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-C5-A2M2-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |