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/SP1_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/SP1_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/SP1_pca_on_diff_genes.png) | EOLP: Erosive Oral lichen planus |
LP: leukoplakia |
NEOLP: Non-erosive oral lichen planus |
OSCC: Oral squamous cell carcinoma |
Prostate | ![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/Prostate/SP1_pca_on_diff_genes.png) | BPH: Benign Prostatic Hyperplasia |
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/SP1_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:000195231 | Lung | MIAC | regulation of cell-matrix adhesion | 24/967 | 128/18723 | 3.46e-08 | 1.37e-05 | 24 |
GO:001081032 | Lung | MIAC | regulation of cell-substrate adhesion | 33/967 | 221/18723 | 3.79e-08 | 1.39e-05 | 33 |
GO:004804131 | Lung | MIAC | focal adhesion assembly | 19/967 | 87/18723 | 7.35e-08 | 2.36e-05 | 19 |
GO:015011631 | Lung | MIAC | regulation of cell-substrate junction organization | 17/967 | 71/18723 | 8.51e-08 | 2.57e-05 | 17 |
GO:003158931 | Lung | MIAC | cell-substrate adhesion | 44/967 | 363/18723 | 1.30e-07 | 3.56e-05 | 44 |
GO:000701533 | Lung | MIAC | actin filament organization | 50/967 | 442/18723 | 1.64e-07 | 3.81e-05 | 50 |
GO:003432931 | Lung | MIAC | cell junction assembly | 48/967 | 420/18723 | 2.13e-07 | 4.11e-05 | 48 |
GO:000704431 | Lung | MIAC | cell-substrate junction assembly | 19/967 | 95/18723 | 3.20e-07 | 5.66e-05 | 19 |
GO:015011531 | Lung | MIAC | cell-substrate junction organization | 19/967 | 101/18723 | 8.64e-07 | 1.23e-04 | 19 |
GO:003103232 | Lung | MIAC | actomyosin structure organization | 27/967 | 196/18723 | 3.17e-06 | 3.45e-04 | 27 |
GO:005125823 | Lung | MIAC | protein polymerization | 35/967 | 297/18723 | 4.69e-06 | 4.81e-04 | 35 |
GO:00322322 | Lung | MIAC | negative regulation of actin filament bundle assembly | 10/967 | 35/18723 | 7.25e-06 | 6.53e-04 | 10 |
GO:190290333 | Lung | MIAC | regulation of supramolecular fiber organization | 41/967 | 383/18723 | 8.33e-06 | 7.24e-04 | 41 |
GO:003227132 | Lung | MIAC | regulation of protein polymerization | 29/967 | 233/18723 | 1.06e-05 | 8.86e-04 | 29 |
GO:004325423 | Lung | MIAC | regulation of protein-containing complex assembly | 44/967 | 428/18723 | 1.11e-05 | 9.00e-04 | 44 |
GO:011005332 | Lung | MIAC | regulation of actin filament organization | 32/967 | 278/18723 | 1.91e-05 | 1.27e-03 | 32 |
GO:005101732 | Lung | MIAC | actin filament bundle assembly | 22/967 | 157/18723 | 1.93e-05 | 1.27e-03 | 22 |
GO:003297032 | Lung | MIAC | regulation of actin filament-based process | 41/967 | 397/18723 | 1.96e-05 | 1.28e-03 | 41 |
GO:00514972 | Lung | MIAC | negative regulation of stress fiber assembly | 9/967 | 32/18723 | 2.41e-05 | 1.53e-03 | 9 |
GO:006157232 | Lung | MIAC | actin filament bundle organization | 22/967 | 161/18723 | 2.87e-05 | 1.71e-03 | 22 |
Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
hsa05016210 | Esophagus | ESCC | Huntington disease | 226/4205 | 306/8465 | 1.38e-18 | 8.72e-17 | 4.46e-17 | 226 |
hsa05415211 | Esophagus | ESCC | Diabetic cardiomyopathy | 146/4205 | 203/8465 | 5.81e-11 | 7.78e-10 | 3.99e-10 | 146 |
hsa05163210 | Esophagus | ESCC | Human cytomegalovirus infection | 148/4205 | 225/8465 | 5.73e-07 | 4.00e-06 | 2.05e-06 | 148 |
hsa04137210 | Esophagus | ESCC | Mitophagy - animal | 54/4205 | 72/8465 | 9.33e-06 | 4.96e-05 | 2.54e-05 | 54 |
hsa0501728 | Esophagus | ESCC | Spinocerebellar ataxia | 94/4205 | 143/8465 | 6.77e-05 | 2.90e-04 | 1.48e-04 | 94 |
hsa043507 | Esophagus | ESCC | TGF-beta signaling pathway | 69/4205 | 108/8465 | 1.92e-03 | 5.54e-03 | 2.84e-03 | 69 |
hsa052028 | Esophagus | ESCC | Transcriptional misregulation in cancer | 116/4205 | 193/8465 | 2.08e-03 | 5.95e-03 | 3.05e-03 | 116 |
hsa015227 | Esophagus | ESCC | Endocrine resistance | 63/4205 | 98/8465 | 2.38e-03 | 6.58e-03 | 3.37e-03 | 63 |
hsa0492816 | Esophagus | ESCC | Parathyroid hormone synthesis, secretion and action | 66/4205 | 106/8465 | 5.86e-03 | 1.47e-02 | 7.51e-03 | 66 |
hsa052319 | Esophagus | ESCC | Choline metabolism in cancer | 61/4205 | 98/8465 | 7.97e-03 | 1.92e-02 | 9.84e-03 | 61 |
hsa0501638 | Esophagus | ESCC | Huntington disease | 226/4205 | 306/8465 | 1.38e-18 | 8.72e-17 | 4.46e-17 | 226 |
hsa0541538 | Esophagus | ESCC | Diabetic cardiomyopathy | 146/4205 | 203/8465 | 5.81e-11 | 7.78e-10 | 3.99e-10 | 146 |
hsa0516338 | Esophagus | ESCC | Human cytomegalovirus infection | 148/4205 | 225/8465 | 5.73e-07 | 4.00e-06 | 2.05e-06 | 148 |
hsa0413738 | Esophagus | ESCC | Mitophagy - animal | 54/4205 | 72/8465 | 9.33e-06 | 4.96e-05 | 2.54e-05 | 54 |
hsa0501736 | Esophagus | ESCC | Spinocerebellar ataxia | 94/4205 | 143/8465 | 6.77e-05 | 2.90e-04 | 1.48e-04 | 94 |
hsa0435014 | Esophagus | ESCC | TGF-beta signaling pathway | 69/4205 | 108/8465 | 1.92e-03 | 5.54e-03 | 2.84e-03 | 69 |
hsa0520213 | Esophagus | ESCC | Transcriptional misregulation in cancer | 116/4205 | 193/8465 | 2.08e-03 | 5.95e-03 | 3.05e-03 | 116 |
hsa0152215 | Esophagus | ESCC | Endocrine resistance | 63/4205 | 98/8465 | 2.38e-03 | 6.58e-03 | 3.37e-03 | 63 |
hsa0492817 | Esophagus | ESCC | Parathyroid hormone synthesis, secretion and action | 66/4205 | 106/8465 | 5.86e-03 | 1.47e-02 | 7.51e-03 | 66 |
hsa0523114 | Esophagus | ESCC | Choline metabolism in cancer | 61/4205 | 98/8465 | 7.97e-03 | 1.92e-02 | 9.84e-03 | 61 |
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 |
SP1 | SNV | Missense_Mutation | rs775622089 | c.314A>G | p.Asn105Ser | p.N105S | P08047 | protein_coding | deleterious(0.01) | probably_damaging(0.968) | TCGA-AN-A0AR-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
SP1 | SNV | Missense_Mutation | | c.49N>T | p.Ile17Phe | p.I17F | P08047 | protein_coding | tolerated_low_confidence(0.08) | benign(0.227) | TCGA-AN-A0FJ-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
SP1 | SNV | Missense_Mutation | | c.1262N>T | p.Ser421Leu | p.S421L | P08047 | protein_coding | deleterious(0.01) | possibly_damaging(0.587) | TCGA-BH-A0HF-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | arimidex | SD |
SP1 | SNV | Missense_Mutation | | c.1997N>A | p.Arg666His | p.R666H | P08047 | protein_coding | deleterious(0) | probably_damaging(0.991) | TCGA-BH-A18G-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
SP1 | SNV | Missense_Mutation | | c.202T>C | p.Cys68Arg | p.C68R | P08047 | protein_coding | deleterious(0) | probably_damaging(0.99) | TCGA-EW-A1IZ-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | taxotere | SD |
SP1 | SNV | Missense_Mutation | novel | c.407N>G | p.Ser136Cys | p.S136C | P08047 | protein_coding | deleterious(0.01) | possibly_damaging(0.648) | TCGA-GM-A3XL-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | fluorouracil | CR |
SP1 | insertion | Nonsense_Mutation | novel | c.1611_1612insCCAGTTTTATTTTGATTGTTTTCTTTGGAA | p.Leu537_Gly538insProValLeuPheTerLeuPheSerLeuGlu | p.L537_G538insPVLF*LFSLE | P08047 | protein_coding | | | TCGA-A7-A0DA-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | SD |
SP1 | SNV | Missense_Mutation | | c.2022N>C | p.Gln674His | p.Q674H | P08047 | protein_coding | deleterious(0) | probably_damaging(0.996) | TCGA-C5-A1BQ-01 | Cervix | cervical & endocervical cancer | Female | >=65 | III/IV | Chemotherapy | cisplatin | CR |
SP1 | SNV | Missense_Mutation | | c.2022N>C | p.Gln674His | p.Q674H | P08047 | protein_coding | deleterious(0) | probably_damaging(0.996) | TCGA-C5-A3HL-01 | Cervix | cervical & endocervical cancer | Female | >=65 | I/II | Unknown | Unknown | SD |
SP1 | SNV | Missense_Mutation | novel | c.2009N>T | p.Ser670Leu | p.S670L | P08047 | protein_coding | deleterious(0) | probably_damaging(0.982) | TCGA-DS-A1OB-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | carboplatin | PD |