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:00026858 | Endometrium | AEH | regulation of leukocyte migration | 39/2100 | 210/18723 | 1.06e-03 | 9.33e-03 | 39 |
GO:00026838 | Endometrium | AEH | negative regulation of immune system process | 69/2100 | 434/18723 | 1.76e-03 | 1.41e-02 | 69 |
GO:00975299 | Endometrium | AEH | myeloid leukocyte migration | 39/2100 | 220/18723 | 2.55e-03 | 1.88e-02 | 39 |
GO:004340910 | Endometrium | AEH | negative regulation of MAPK cascade | 33/2100 | 180/18723 | 3.04e-03 | 2.15e-02 | 33 |
GO:00900922 | Endometrium | AEH | regulation of transmembrane receptor protein serine/threonine kinase signaling pathway | 43/2100 | 256/18723 | 4.47e-03 | 2.93e-02 | 43 |
GO:0030199 | Endometrium | AEH | collagen fibril organization | 14/2100 | 61/18723 | 6.65e-03 | 3.91e-02 | 14 |
GO:001081016 | Endometrium | EEC | regulation of cell-substrate adhesion | 63/2168 | 221/18723 | 5.17e-12 | 8.85e-10 | 63 |
GO:003158915 | Endometrium | EEC | cell-substrate adhesion | 87/2168 | 363/18723 | 1.95e-11 | 3.00e-09 | 87 |
GO:004578517 | Endometrium | EEC | positive regulation of cell adhesion | 98/2168 | 437/18723 | 6.15e-11 | 8.38e-09 | 98 |
GO:190290317 | Endometrium | EEC | regulation of supramolecular fiber organization | 82/2168 | 383/18723 | 2.11e-08 | 1.25e-06 | 82 |
GO:001081117 | Endometrium | EEC | positive regulation of cell-substrate adhesion | 37/2168 | 123/18723 | 2.59e-08 | 1.51e-06 | 37 |
GO:000716014 | Endometrium | EEC | cell-matrix adhesion | 54/2168 | 233/18723 | 3.98e-07 | 1.56e-05 | 54 |
GO:200014613 | Endometrium | EEC | negative regulation of cell motility | 71/2168 | 359/18723 | 3.98e-06 | 1.04e-04 | 71 |
GO:005127113 | Endometrium | EEC | negative regulation of cellular component movement | 72/2168 | 367/18723 | 4.59e-06 | 1.15e-04 | 72 |
GO:190290415 | Endometrium | EEC | negative regulation of supramolecular fiber organization | 40/2168 | 167/18723 | 5.23e-06 | 1.28e-04 | 40 |
GO:007155914 | Endometrium | EEC | response to transforming growth factor beta | 54/2168 | 256/18723 | 8.25e-06 | 1.83e-04 | 54 |
GO:003033612 | Endometrium | EEC | negative regulation of cell migration | 67/2168 | 344/18723 | 1.24e-05 | 2.54e-04 | 67 |
GO:004001312 | Endometrium | EEC | negative regulation of locomotion | 74/2168 | 391/18723 | 1.28e-05 | 2.59e-04 | 74 |
GO:007156014 | Endometrium | EEC | cellular response to transforming growth factor beta stimulus | 52/2168 | 250/18723 | 1.81e-05 | 3.41e-04 | 52 |
GO:000717814 | Endometrium | EEC | transmembrane receptor protein serine/threonine kinase signaling pathway | 68/2168 | 355/18723 | 1.90e-05 | 3.50e-04 | 68 |
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 |