Tissue | Expression Dynamics | Abbreviation |
Breast | ![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/Breast/EVL_pca_on_diff_genes.png) | IDC: Invasive ductal carcinoma |
DCIS: Ductal carcinoma in situ |
Precancer(BRCA1-mut): Precancerous lesion from BRCA1 mutation carriers |
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/EVL_pca_on_diff_genes.png) | ESCC: Esophageal squamous cell carcinoma |
HGIN: High-grade intraepithelial neoplasias |
LGIN: Low-grade intraepithelial neoplasias |
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/EVL_pca_on_diff_genes.png) | EOLP: Erosive Oral lichen planus |
LP: leukoplakia |
NEOLP: Non-erosive oral lichen planus |
OSCC: Oral squamous cell carcinoma |
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/EVL_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:011002014 | Breast | IDC | regulation of actomyosin structure organization | 18/1434 | 100/18723 | 5.40e-04 | 6.96e-03 | 18 |
GO:011005314 | Breast | IDC | regulation of actin filament organization | 37/1434 | 278/18723 | 7.01e-04 | 8.58e-03 | 37 |
GO:003223313 | Breast | IDC | positive regulation of actin filament bundle assembly | 13/1434 | 63/18723 | 8.33e-04 | 9.75e-03 | 13 |
GO:005101714 | Breast | IDC | actin filament bundle assembly | 24/1434 | 157/18723 | 8.73e-04 | 1.01e-02 | 24 |
GO:00322719 | Breast | IDC | regulation of protein polymerization | 32/1434 | 233/18723 | 9.19e-04 | 1.05e-02 | 32 |
GO:003223114 | Breast | IDC | regulation of actin filament bundle assembly | 18/1434 | 105/18723 | 9.81e-04 | 1.11e-02 | 18 |
GO:00303362 | Breast | IDC | negative regulation of cell migration | 43/1434 | 344/18723 | 1.01e-03 | 1.13e-02 | 43 |
GO:006157214 | Breast | IDC | actin filament bundle organization | 24/1434 | 161/18723 | 1.25e-03 | 1.33e-02 | 24 |
GO:00512589 | Breast | IDC | protein polymerization | 38/1434 | 297/18723 | 1.26e-03 | 1.34e-02 | 38 |
GO:00400132 | Breast | IDC | negative regulation of locomotion | 47/1434 | 391/18723 | 1.39e-03 | 1.43e-02 | 47 |
GO:00325358 | Breast | IDC | regulation of cellular component size | 45/1434 | 383/18723 | 2.72e-03 | 2.41e-02 | 45 |
GO:00308388 | Breast | IDC | positive regulation of actin filament polymerization | 16/1434 | 99/18723 | 3.40e-03 | 2.83e-02 | 16 |
GO:190290524 | Breast | DCIS | positive regulation of supramolecular fiber organization | 37/1390 | 209/18723 | 6.31e-07 | 2.71e-05 | 37 |
GO:004325424 | Breast | DCIS | regulation of protein-containing complex assembly | 61/1390 | 428/18723 | 6.32e-07 | 2.71e-05 | 61 |
GO:003133423 | Breast | DCIS | positive regulation of protein-containing complex assembly | 40/1390 | 237/18723 | 8.13e-07 | 3.36e-05 | 40 |
GO:003297024 | Breast | DCIS | regulation of actin filament-based process | 56/1390 | 397/18723 | 2.50e-06 | 8.74e-05 | 56 |
GO:190290324 | Breast | DCIS | regulation of supramolecular fiber organization | 54/1390 | 383/18723 | 3.82e-06 | 1.16e-04 | 54 |
GO:001063121 | Breast | DCIS | epithelial cell migration | 51/1390 | 357/18723 | 4.83e-06 | 1.43e-04 | 51 |
GO:009013221 | Breast | DCIS | epithelium migration | 51/1390 | 360/18723 | 6.14e-06 | 1.75e-04 | 51 |
GO:009013021 | Breast | DCIS | tissue migration | 51/1390 | 365/18723 | 9.09e-06 | 2.45e-04 | 51 |
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 |
EVL | SNV | Missense_Mutation | novel | c.1090T>C | p.Ser364Pro | p.S364P | Q9UI08 | protein_coding | deleterious(0.03) | benign(0.405) | TCGA-A8-A07J-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | 5-fluorouracil | CR |
EVL | SNV | Missense_Mutation | novel | c.444N>T | p.Gln148His | p.Q148H | Q9UI08 | protein_coding | tolerated(0.13) | benign(0.003) | TCGA-C8-A3M7-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Unknown | Unknown | PD |
EVL | insertion | In_Frame_Ins | novel | c.899_900insCACCAGACGGGGCCTAGACAA | p.Met300delinsIleThrArgArgGlyLeuAspLys | p.M300delinsITRRGLDK | Q9UI08 | protein_coding | | | TCGA-A2-A04Y-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cytoxan | SD |
EVL | insertion | In_Frame_Ins | novel | c.1093_1094insACTCCTCAGGTGAGA | p.Ser364_Arg365insAsnSerSerGlyGlu | p.S364_R365insNSSGE | Q9UI08 | protein_coding | | | TCGA-A8-A07J-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | 5-fluorouracil | CR |
EVL | SNV | Missense_Mutation | | c.1075N>G | p.Gln359Glu | p.Q359E | Q9UI08 | protein_coding | tolerated(0.64) | possibly_damaging(0.83) | TCGA-DR-A0ZM-01 | Cervix | cervical & endocervical cancer | Female | <65 | III/IV | Unspecific | Cisplatin | SD |
EVL | SNV | Missense_Mutation | novel | c.1065N>C | p.Lys355Asn | p.K355N | Q9UI08 | protein_coding | tolerated(0.15) | probably_damaging(0.985) | TCGA-VS-A953-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | PD |
EVL | SNV | Missense_Mutation | novel | c.409G>C | p.Asp137His | p.D137H | Q9UI08 | protein_coding | deleterious(0) | possibly_damaging(0.694) | TCGA-VS-A958-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
EVL | SNV | Missense_Mutation | novel | c.1090T>C | p.Ser364Pro | p.S364P | Q9UI08 | protein_coding | deleterious(0.03) | benign(0.405) | TCGA-A6-6648-01 | Colorectum | colon adenocarcinoma | Male | <65 | I/II | Chemotherapy | oxaliplatin | PD |
EVL | SNV | Missense_Mutation | novel | c.251G>T | p.Arg84Leu | p.R84L | Q9UI08 | protein_coding | deleterious(0) | probably_damaging(0.975) | TCGA-AA-A02O-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD |
EVL | SNV | Missense_Mutation | rs750787699 | c.452N>A | p.Arg151His | p.R151H | Q9UI08 | protein_coding | deleterious(0.02) | benign(0.037) | TCGA-AD-5900-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD |