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/EFEMP2_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/EFEMP2_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/EFEMP2_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/EFEMP2_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/EFEMP2_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:00605376 | Endometrium | AEH | muscle tissue development | 83/2100 | 403/18723 | 2.57e-08 | 1.50e-06 | 83 |
GO:00019529 | Endometrium | AEH | regulation of cell-matrix adhesion | 37/2100 | 128/18723 | 3.58e-08 | 1.99e-06 | 37 |
GO:00071609 | Endometrium | AEH | cell-matrix adhesion | 54/2100 | 233/18723 | 1.42e-07 | 6.37e-06 | 54 |
GO:190290516 | Endometrium | AEH | positive regulation of supramolecular fiber organization | 48/2100 | 209/18723 | 9.11e-07 | 3.20e-05 | 48 |
GO:00486604 | Endometrium | AEH | regulation of smooth muscle cell proliferation | 43/2100 | 180/18723 | 1.09e-06 | 3.68e-05 | 43 |
GO:00486594 | Endometrium | AEH | smooth muscle cell proliferation | 43/2100 | 184/18723 | 2.04e-06 | 6.14e-05 | 43 |
GO:00330022 | Endometrium | AEH | muscle cell proliferation | 51/2100 | 248/18723 | 1.26e-05 | 2.77e-04 | 51 |
GO:00019549 | Endometrium | AEH | positive regulation of cell-matrix adhesion | 18/2100 | 58/18723 | 3.98e-05 | 6.86e-04 | 18 |
GO:00075174 | Endometrium | AEH | muscle organ development | 60/2100 | 327/18723 | 8.19e-05 | 1.22e-03 | 60 |
GO:00426925 | Endometrium | AEH | muscle cell differentiation | 68/2100 | 384/18723 | 8.88e-05 | 1.30e-03 | 68 |
GO:0048662 | Endometrium | AEH | negative regulation of smooth muscle cell proliferation | 17/2100 | 75/18723 | 3.39e-03 | 2.36e-02 | 17 |
GO:1904705 | Endometrium | AEH | regulation of vascular associated smooth muscle cell proliferation | 19/2100 | 90/18723 | 4.69e-03 | 2.99e-02 | 19 |
GO:1990874 | Endometrium | AEH | vascular associated smooth muscle cell proliferation | 19/2100 | 91/18723 | 5.32e-03 | 3.32e-02 | 19 |
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 |
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 |
EFEMP2 | SNV | Missense_Mutation | novel | c.998N>T | p.Asn333Ile | p.N333I | O95967 | protein_coding | deleterious(0.01) | benign(0.372) | TCGA-AO-A03T-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cyclophosphamide | SD |
EFEMP2 | SNV | Missense_Mutation | | c.444N>C | p.Gln148His | p.Q148H | O95967 | protein_coding | tolerated(0.32) | benign(0) | TCGA-AR-A256-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | PD |
EFEMP2 | SNV | Missense_Mutation | | c.1129N>G | p.Gln377Glu | p.Q377E | O95967 | protein_coding | deleterious(0.01) | benign(0.023) | TCGA-D8-A1JA-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | adriamycin | PD |
EFEMP2 | SNV | Missense_Mutation | novel | c.1139N>A | p.Ala380Asp | p.A380D | O95967 | protein_coding | deleterious(0.03) | benign(0.081) | TCGA-D8-A1XQ-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
EFEMP2 | SNV | Missense_Mutation | rs775241517 | c.1102N>A | p.Val368Ile | p.V368I | O95967 | protein_coding | tolerated(0.95) | probably_damaging(0.959) | TCGA-PL-A8LY-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
EFEMP2 | insertion | Frame_Shift_Ins | novel | c.999_1000insATAGGCGGCCAGGAGGCTGGGGGGCAGGGGTTTGAGT | p.Pro334IlefsTer38 | p.P334Ifs*38 | O95967 | protein_coding | | | TCGA-AO-A03T-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cyclophosphamide | SD |
EFEMP2 | insertion | Frame_Shift_Ins | novel | c.778_779insTAGATATTGGAATTAGTAG | p.Asn260IlefsTer32 | p.N260Ifs*32 | O95967 | protein_coding | | | TCGA-D8-A27N-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | taxol+adriamycin+cyclophosphamide+herceptin | SD |
EFEMP2 | SNV | Missense_Mutation | | c.530N>A | p.Cys177Tyr | p.C177Y | O95967 | protein_coding | deleterious(0) | possibly_damaging(0.691) | TCGA-DS-A0VK-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | carboplatin | PD |
EFEMP2 | SNV | Missense_Mutation | novel | c.594C>A | p.Asn198Lys | p.N198K | O95967 | protein_coding | deleterious(0.02) | possibly_damaging(0.58) | TCGA-EK-A2GZ-01 | Cervix | cervical & endocervical cancer | Female | <65 | III/IV | Unknown | Unknown | SD |
EFEMP2 | SNV | Missense_Mutation | novel | c.868N>A | p.Gly290Ser | p.G290S | O95967 | protein_coding | deleterious(0.01) | probably_damaging(0.995) | TCGA-5M-AAT6-01 | Colorectum | colon adenocarcinoma | Female | <65 | III/IV | Unknown | Unknown | PD |