Tissue | Expression Dynamics | Abbreviation |
Endometrium | ![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/Endometrium/EMILIN1_pca_on_diff_genes.png) | AEH: Atypical endometrial hyperplasia |
EEC: Endometrioid Cancer |
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/EMILIN1_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/EMILIN1_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/EMILIN1_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:001081015 | Endometrium | AEH | regulation of cell-substrate adhesion | 64/2100 | 221/18723 | 3.85e-13 | 9.62e-11 | 64 |
GO:00315899 | Endometrium | AEH | cell-substrate adhesion | 87/2100 | 363/18723 | 3.51e-12 | 5.70e-10 | 87 |
GO:004578516 | Endometrium | AEH | positive regulation of cell adhesion | 96/2100 | 437/18723 | 5.50e-11 | 7.18e-09 | 96 |
GO:190290316 | Endometrium | AEH | regulation of supramolecular fiber organization | 83/2100 | 383/18723 | 2.20e-09 | 1.78e-07 | 83 |
GO:001081116 | Endometrium | AEH | positive regulation of cell-substrate adhesion | 38/2100 | 123/18723 | 3.08e-09 | 2.26e-07 | 38 |
GO:00071609 | Endometrium | AEH | cell-matrix adhesion | 54/2100 | 233/18723 | 1.42e-07 | 6.37e-06 | 54 |
GO:19029049 | Endometrium | AEH | negative regulation of supramolecular fiber organization | 39/2100 | 167/18723 | 6.07e-06 | 1.50e-04 | 39 |
GO:00715596 | Endometrium | AEH | response to transforming growth factor beta | 53/2100 | 256/18723 | 7.01e-06 | 1.69e-04 | 53 |
GO:00071787 | Endometrium | AEH | transmembrane receptor protein serine/threonine kinase signaling pathway | 67/2100 | 355/18723 | 1.28e-05 | 2.80e-04 | 67 |
GO:00715606 | Endometrium | AEH | cellular response to transforming growth factor beta stimulus | 51/2100 | 250/18723 | 1.59e-05 | 3.32e-04 | 51 |
GO:00303364 | Endometrium | AEH | negative regulation of cell migration | 65/2100 | 344/18723 | 1.65e-05 | 3.42e-04 | 65 |
GO:20001464 | Endometrium | AEH | negative regulation of cell motility | 67/2100 | 359/18723 | 1.86e-05 | 3.77e-04 | 67 |
GO:00512714 | Endometrium | AEH | negative regulation of cellular component movement | 68/2100 | 367/18723 | 2.06e-05 | 4.11e-04 | 68 |
GO:00400134 | Endometrium | AEH | negative regulation of locomotion | 70/2100 | 391/18723 | 4.95e-05 | 8.05e-04 | 70 |
GO:004593616 | Endometrium | AEH | negative regulation of phosphate metabolic process | 77/2100 | 441/18723 | 5.13e-05 | 8.25e-04 | 77 |
GO:001056316 | Endometrium | AEH | negative regulation of phosphorus metabolic process | 77/2100 | 442/18723 | 5.54e-05 | 8.79e-04 | 77 |
GO:00509008 | Endometrium | AEH | leukocyte migration | 64/2100 | 369/18723 | 2.57e-04 | 3.04e-03 | 64 |
GO:000193315 | Endometrium | AEH | negative regulation of protein phosphorylation | 60/2100 | 342/18723 | 2.89e-04 | 3.31e-03 | 60 |
GO:004232615 | Endometrium | AEH | negative regulation of phosphorylation | 65/2100 | 385/18723 | 4.93e-04 | 5.06e-03 | 65 |
GO:00071796 | Endometrium | AEH | transforming growth factor beta receptor signaling pathway | 38/2100 | 198/18723 | 6.41e-04 | 6.23e-03 | 38 |
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 |
EMILIN1 | SNV | Missense_Mutation | novel | c.382N>C | p.Asp128His | p.D128H | | protein_coding | deleterious(0) | probably_damaging(0.979) | TCGA-BH-A0B6-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
EMILIN1 | SNV | Missense_Mutation | rs554471085 | c.296G>A | p.Arg99His | p.R99H | | protein_coding | deleterious(0) | probably_damaging(0.998) | TCGA-BH-A18G-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
EMILIN1 | SNV | Missense_Mutation | | c.2029N>A | p.Asp677Asn | p.D677N | | protein_coding | deleterious(0) | probably_damaging(0.966) | TCGA-D8-A1JA-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | adriamycin | PD |
EMILIN1 | insertion | Nonsense_Mutation | novel | c.2228_2229insCAACCAAGGACCGTATCATTTCTGAGATTA | p.Gly743_Leu744insAsnGlnGlyProTyrHisPheTerAspTer | p.G743_L744insNQGPYHF*D* | | protein_coding | | | TCGA-A8-A08H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
EMILIN1 | insertion | Nonsense_Mutation | novel | c.2694_2695insGAGCACAACAGGAGAGCCTCAGCAGATGTTTGCTGAG | p.Tyr899GlufsTer12 | p.Y899Efs*12 | | protein_coding | | | TCGA-BH-A0B3-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cyclophosphamide | SD |
EMILIN1 | insertion | In_Frame_Ins | novel | c.1526_1527insTTTCAT | p.Gly509_Gln510insPheMet | p.G509_Q510insFM | | protein_coding | | | TCGA-DS-A1OB-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | carboplatin | PD |
EMILIN1 | insertion | Frame_Shift_Ins | novel | c.1529_1530insCCCCA | p.Gln510HisfsTer53 | p.Q510Hfs*53 | | protein_coding | | | TCGA-DS-A1OB-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | carboplatin | PD |
EMILIN1 | SNV | Missense_Mutation | | c.528G>T | p.Glu176Asp | p.E176D | | protein_coding | tolerated(0.15) | benign(0.135) | TCGA-A6-6141-01 | Colorectum | colon adenocarcinoma | Male | <65 | I/II | Chemotherapy | 5-fu | SD |
EMILIN1 | SNV | Missense_Mutation | novel | c.736N>T | p.Leu246Phe | p.L246F | | protein_coding | tolerated(0.08) | possibly_damaging(0.596) | TCGA-AA-3556-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD |
EMILIN1 | SNV | Missense_Mutation | rs781472388 | c.343N>A | p.Asp115Asn | p.D115N | | protein_coding | tolerated(0.2) | possibly_damaging(0.521) | TCGA-AA-A010-01 | Colorectum | colon adenocarcinoma | Female | <65 | I/II | Chemotherapy | folinic | CR |