Tissue | Expression Dynamics | Abbreviation |
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/EMC1_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/EMC1_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/EMC1_pca_on_diff_genes.png) | EOLP: Erosive Oral lichen planus |
LP: leukoplakia |
NEOLP: Non-erosive oral lichen planus |
OSCC: Oral squamous cell carcinoma |
Skin | ![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/Skin/EMC1_pca_on_diff_genes.png) | AK: Actinic keratosis |
cSCC: Cutaneous squamous cell carcinoma |
SCCIS:squamous cell carcinoma in situ |
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/EMC1_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:000166710 | Endometrium | AEH | ameboidal-type cell migration | 90/2100 | 475/18723 | 3.73e-07 | 1.57e-05 | 90 |
GO:00506738 | Endometrium | AEH | epithelial cell proliferation | 84/2100 | 437/18723 | 4.88e-07 | 1.94e-05 | 84 |
GO:009013014 | Endometrium | AEH | tissue migration | 73/2100 | 365/18723 | 5.79e-07 | 2.20e-05 | 73 |
GO:009013214 | Endometrium | AEH | epithelium migration | 72/2100 | 360/18723 | 6.90e-07 | 2.55e-05 | 72 |
GO:001063114 | Endometrium | AEH | epithelial cell migration | 71/2100 | 357/18723 | 1.02e-06 | 3.52e-05 | 71 |
GO:001063214 | Endometrium | AEH | regulation of epithelial cell migration | 60/2100 | 292/18723 | 2.31e-06 | 6.77e-05 | 60 |
GO:00506788 | Endometrium | AEH | regulation of epithelial cell proliferation | 73/2100 | 381/18723 | 3.04e-06 | 8.44e-05 | 73 |
GO:001063410 | Endometrium | AEH | positive regulation of epithelial cell migration | 41/2100 | 176/18723 | 3.79e-06 | 1.01e-04 | 41 |
GO:00514039 | Endometrium | AEH | stress-activated MAPK cascade | 50/2100 | 239/18723 | 9.33e-06 | 2.18e-04 | 50 |
GO:00310989 | Endometrium | AEH | stress-activated protein kinase signaling cascade | 51/2100 | 247/18723 | 1.12e-05 | 2.52e-04 | 51 |
GO:00328728 | Endometrium | AEH | regulation of stress-activated MAPK cascade | 42/2100 | 192/18723 | 1.53e-05 | 3.23e-04 | 42 |
GO:00380665 | Endometrium | AEH | p38MAPK cascade | 18/2100 | 55/18723 | 1.77e-05 | 3.65e-04 | 18 |
GO:00435428 | Endometrium | AEH | endothelial cell migration | 55/2100 | 279/18723 | 2.11e-05 | 4.15e-04 | 55 |
GO:00105955 | Endometrium | AEH | positive regulation of endothelial cell migration | 32/2100 | 133/18723 | 2.12e-05 | 4.15e-04 | 32 |
GO:00434105 | Endometrium | AEH | positive regulation of MAPK cascade | 84/2100 | 480/18723 | 2.19e-05 | 4.25e-04 | 84 |
GO:00703028 | Endometrium | AEH | regulation of stress-activated protein kinase signaling cascade | 42/2100 | 195/18723 | 2.27e-05 | 4.35e-04 | 42 |
GO:00105945 | Endometrium | AEH | regulation of endothelial cell migration | 47/2100 | 232/18723 | 4.02e-05 | 6.91e-04 | 47 |
GO:00506795 | Endometrium | AEH | positive regulation of epithelial cell proliferation | 43/2100 | 207/18723 | 4.55e-05 | 7.61e-04 | 43 |
GO:009015010 | Endometrium | AEH | establishment of protein localization to membrane | 51/2100 | 260/18723 | 4.74e-05 | 7.85e-04 | 51 |
GO:19007443 | Endometrium | AEH | regulation of p38MAPK cascade | 15/2100 | 47/18723 | 1.21e-04 | 1.67e-03 | 15 |
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 |
EMC1 | SNV | Missense_Mutation | novel | c.1799C>A | p.Ser600Tyr | p.S600Y | Q8N766 | protein_coding | tolerated(1) | benign(0.086) | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
EMC1 | SNV | Missense_Mutation | novel | c.1283A>G | p.His428Arg | p.H428R | Q8N766 | protein_coding | tolerated(0.11) | benign(0.003) | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
EMC1 | SNV | Missense_Mutation | novel | c.64G>A | p.Val22Ile | p.V22I | Q8N766 | protein_coding | tolerated(0.1) | benign(0.228) | TCGA-B6-A2IU-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | PD |
EMC1 | SNV | Missense_Mutation | | c.1525N>A | p.Ala509Thr | p.A509T | Q8N766 | protein_coding | tolerated(0.08) | benign(0.015) | TCGA-BH-A18H-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | CR |
EMC1 | SNV | Missense_Mutation | | c.2567N>A | p.Ile856Asn | p.I856N | Q8N766 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-E9-A1RI-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Hormone Therapy | tamoxiphen | SD |
EMC1 | insertion | Nonsense_Mutation | novel | c.1119_1120insTGACTTGTTAGAAGTCACAGTAAAGGCGGGTATTATTT | p.Thr374Ter | p.T374* | Q8N766 | protein_coding | | | TCGA-A2-A04Y-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cytoxan | SD |
EMC1 | insertion | Frame_Shift_Ins | novel | c.1321_1322insATTGTTTTGAAGA | p.Val441AspfsTer10 | p.V441Dfs*10 | Q8N766 | protein_coding | | | TCGA-A8-A06X-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
EMC1 | insertion | Nonsense_Mutation | novel | c.1319_1320insATAATGGGGATAATAGCACCAACGTCAGA | p.Val441Ter | p.V441* | Q8N766 | protein_coding | | | TCGA-A8-A06X-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
EMC1 | insertion | In_Frame_Ins | novel | c.185_186insTCACTCTGTCACCCAGGCTAGAGTGCAGTG | p.Val62_Ile63insHisSerValThrGlnAlaArgValGlnTrp | p.V62_I63insHSVTQARVQW | Q8N766 | protein_coding | | | TCGA-A8-A0A2-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | tamoxiphen | SD |
EMC1 | insertion | Frame_Shift_Ins | novel | c.2326_2327insCAACCACCATCTTGTCGGGTTTTCTTACCTCCAT | p.Lys776ThrfsTer48 | p.K776Tfs*48 | Q8N766 | protein_coding | | | TCGA-AO-A03R-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | SD |