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:00512622 | Oral cavity | OSCC | protein tetramerization | 48/7305 | 87/18723 | 1.60e-03 | 7.62e-03 | 48 |
GO:003223119 | Oral cavity | OSCC | regulation of actin filament bundle assembly | 56/7305 | 105/18723 | 1.99e-03 | 9.23e-03 | 56 |
GO:19000276 | Oral cavity | OSCC | regulation of ruffle assembly | 20/7305 | 31/18723 | 3.57e-03 | 1.49e-02 | 20 |
GO:001063218 | Oral cavity | OSCC | regulation of epithelial cell migration | 136/7305 | 292/18723 | 4.82e-03 | 1.92e-02 | 136 |
GO:00514969 | Oral cavity | OSCC | positive regulation of stress fiber assembly | 30/7305 | 52/18723 | 4.84e-03 | 1.92e-02 | 30 |
GO:005149220 | Oral cavity | OSCC | regulation of stress fiber assembly | 48/7305 | 91/18723 | 5.32e-03 | 2.07e-02 | 48 |
GO:00313458 | Oral cavity | OSCC | negative regulation of cell projection organization | 89/7305 | 186/18723 | 8.51e-03 | 3.09e-02 | 89 |
GO:003103217 | Oral cavity | OSCC | actomyosin structure organization | 93/7305 | 196/18723 | 9.63e-03 | 3.41e-02 | 93 |
GO:011002020 | Oral cavity | OSCC | regulation of actomyosin structure organization | 51/7305 | 100/18723 | 9.74e-03 | 3.45e-02 | 51 |
GO:00450107 | Oral cavity | OSCC | actin nucleation | 29/7305 | 52/18723 | 1.05e-02 | 3.57e-02 | 29 |
GO:190290334 | Oral cavity | NEOLP | regulation of supramolecular fiber organization | 88/2005 | 383/18723 | 2.44e-12 | 4.83e-10 | 88 |
GO:004325432 | Oral cavity | NEOLP | regulation of protein-containing complex assembly | 95/2005 | 428/18723 | 2.76e-12 | 5.29e-10 | 95 |
GO:000701534 | Oral cavity | NEOLP | actin filament organization | 94/2005 | 442/18723 | 4.49e-11 | 5.80e-09 | 94 |
GO:003297033 | Oral cavity | NEOLP | regulation of actin filament-based process | 85/2005 | 397/18723 | 2.70e-10 | 2.51e-08 | 85 |
GO:000166725 | Oral cavity | NEOLP | ameboidal-type cell migration | 96/2005 | 475/18723 | 5.16e-10 | 4.14e-08 | 96 |
GO:003133433 | Oral cavity | NEOLP | positive regulation of protein-containing complex assembly | 58/2005 | 237/18723 | 1.09e-09 | 7.92e-08 | 58 |
GO:001063123 | Oral cavity | NEOLP | epithelial cell migration | 77/2005 | 357/18723 | 1.32e-09 | 9.43e-08 | 77 |
GO:190290533 | Oral cavity | NEOLP | positive regulation of supramolecular fiber organization | 53/2005 | 209/18723 | 1.47e-09 | 1.01e-07 | 53 |
GO:003295633 | Oral cavity | NEOLP | regulation of actin cytoskeleton organization | 77/2005 | 358/18723 | 1.51e-09 | 1.02e-07 | 77 |
GO:003227133 | Oral cavity | NEOLP | regulation of protein polymerization | 57/2005 | 233/18723 | 1.54e-09 | 1.03e-07 | 57 |
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 |