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:000683920 | Esophagus | HGIN | mitochondrial transport | 74/2587 | 254/18723 | 1.32e-10 | 1.32e-08 | 74 |
GO:000700618 | Esophagus | HGIN | mitochondrial membrane organization | 37/2587 | 116/18723 | 4.61e-07 | 2.07e-05 | 37 |
GO:005160417 | Esophagus | HGIN | protein maturation | 68/2587 | 294/18723 | 9.77e-06 | 2.86e-04 | 68 |
GO:003070517 | Esophagus | HGIN | cytoskeleton-dependent intracellular transport | 45/2587 | 195/18723 | 3.07e-04 | 5.15e-03 | 45 |
GO:00164857 | Esophagus | HGIN | protein processing | 49/2587 | 225/18723 | 7.04e-04 | 9.52e-03 | 49 |
GO:00109707 | Esophagus | HGIN | transport along microtubule | 35/2587 | 155/18723 | 2.01e-03 | 2.12e-02 | 35 |
GO:00469029 | Esophagus | HGIN | regulation of mitochondrial membrane permeability | 17/2587 | 63/18723 | 4.29e-03 | 3.82e-02 | 17 |
GO:19026869 | Esophagus | HGIN | mitochondrial outer membrane permeabilization involved in programmed cell death | 12/2587 | 40/18723 | 6.22e-03 | 4.95e-02 | 12 |
GO:0006839110 | Esophagus | ESCC | mitochondrial transport | 187/8552 | 254/18723 | 8.35e-20 | 9.81e-18 | 187 |
GO:000700619 | Esophagus | ESCC | mitochondrial membrane organization | 93/8552 | 116/18723 | 2.16e-14 | 1.11e-12 | 93 |
GO:005160418 | Esophagus | ESCC | protein maturation | 189/8552 | 294/18723 | 7.64e-11 | 2.39e-09 | 189 |
GO:003070518 | Esophagus | ESCC | cytoskeleton-dependent intracellular transport | 133/8552 | 195/18723 | 1.48e-10 | 4.27e-09 | 133 |
GO:001097013 | Esophagus | ESCC | transport along microtubule | 107/8552 | 155/18723 | 3.17e-09 | 6.80e-08 | 107 |
GO:000808810 | Esophagus | ESCC | axo-dendritic transport | 58/8552 | 75/18723 | 2.09e-08 | 4.02e-07 | 58 |
GO:004690217 | Esophagus | ESCC | regulation of mitochondrial membrane permeability | 49/8552 | 63/18723 | 1.91e-07 | 2.97e-06 | 49 |
GO:00905599 | Esophagus | ESCC | regulation of membrane permeability | 58/8552 | 78/18723 | 2.38e-07 | 3.61e-06 | 58 |
GO:00357948 | Esophagus | ESCC | positive regulation of mitochondrial membrane permeability | 36/8552 | 43/18723 | 2.90e-07 | 4.20e-06 | 36 |
GO:00989304 | Esophagus | ESCC | axonal transport | 49/8552 | 64/18723 | 4.54e-07 | 6.15e-06 | 49 |
GO:190268614 | Esophagus | ESCC | mitochondrial outer membrane permeabilization involved in programmed cell death | 33/8552 | 40/18723 | 1.80e-06 | 2.11e-05 | 33 |
GO:19057108 | Esophagus | ESCC | positive regulation of membrane permeability | 37/8552 | 48/18723 | 8.99e-06 | 8.65e-05 | 37 |
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 |