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/EFEMP1_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/EFEMP1_pca_on_diff_genes.png) | EOLP: Erosive Oral lichen planus |
LP: leukoplakia |
NEOLP: Non-erosive oral lichen planus |
OSCC: Oral squamous cell carcinoma |
Prostate | ![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/Prostate/EFEMP1_pca_on_diff_genes.png) | BPH: Benign Prostatic Hyperplasia |
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/EFEMP1_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/EFEMP1_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:003812718 | Esophagus | ESCC | ERBB signaling pathway | 82/8552 | 121/18723 | 7.23e-07 | 9.40e-06 | 82 |
GO:000717318 | Esophagus | ESCC | epidermal growth factor receptor signaling pathway | 73/8552 | 108/18723 | 3.36e-06 | 3.73e-05 | 73 |
GO:00097919 | Esophagus | ESCC | post-embryonic development | 56/8552 | 80/18723 | 9.08e-06 | 8.71e-05 | 56 |
GO:00485687 | Esophagus | ESCC | embryonic organ development | 228/8552 | 427/18723 | 7.28e-04 | 3.79e-03 | 228 |
GO:00182124 | Esophagus | ESCC | peptidyl-tyrosine modification | 202/8552 | 378/18723 | 1.34e-03 | 6.39e-03 | 202 |
GO:00181084 | Esophagus | ESCC | peptidyl-tyrosine phosphorylation | 200/8552 | 375/18723 | 1.60e-03 | 7.45e-03 | 200 |
GO:00485694 | Esophagus | ESCC | post-embryonic animal organ development | 12/8552 | 15/18723 | 7.31e-03 | 2.63e-02 | 12 |
GO:00512161 | Esophagus | ESCC | cartilage development | 103/8552 | 190/18723 | 1.08e-02 | 3.67e-02 | 103 |
GO:00020623 | Esophagus | ESCC | chondrocyte differentiation | 60/8552 | 106/18723 | 1.53e-02 | 4.94e-02 | 60 |
GO:003812715 | Oral cavity | OSCC | ERBB signaling pathway | 76/7305 | 121/18723 | 9.59e-08 | 1.66e-06 | 76 |
GO:000717315 | Oral cavity | OSCC | epidermal growth factor receptor signaling pathway | 67/7305 | 108/18723 | 1.04e-06 | 1.40e-05 | 67 |
GO:00097918 | Oral cavity | OSCC | post-embryonic development | 51/7305 | 80/18723 | 6.43e-06 | 7.13e-05 | 51 |
GO:00485693 | Oral cavity | OSCC | post-embryonic animal organ development | 13/7305 | 15/18723 | 2.07e-04 | 1.36e-03 | 13 |
GO:00182123 | Oral cavity | OSCC | peptidyl-tyrosine modification | 180/7305 | 378/18723 | 3.63e-04 | 2.22e-03 | 180 |
GO:00181083 | Oral cavity | OSCC | peptidyl-tyrosine phosphorylation | 177/7305 | 375/18723 | 6.86e-04 | 3.83e-03 | 177 |
GO:000979112 | Oral cavity | LP | post-embryonic development | 31/4623 | 80/18723 | 3.69e-03 | 2.44e-02 | 31 |
GO:004856911 | Oral cavity | LP | post-embryonic animal organ development | 9/4623 | 15/18723 | 3.82e-03 | 2.48e-02 | 9 |
GO:003812716 | Oral cavity | LP | ERBB signaling pathway | 42/4623 | 121/18723 | 8.53e-03 | 4.61e-02 | 42 |
GO:000979131 | Oral cavity | NEOLP | post-embryonic development | 24/2005 | 80/18723 | 1.88e-06 | 4.50e-05 | 24 |
GO:01500631 | Oral cavity | NEOLP | visual system development | 70/2005 | 375/18723 | 2.46e-06 | 5.64e-05 | 70 |
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 |
EFEMP1 | SNV | Missense_Mutation | | c.244N>A | p.Glu82Lys | p.E82K | Q12805 | protein_coding | tolerated(0.12) | possibly_damaging(0.516) | TCGA-AN-A0FJ-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
EFEMP1 | SNV | Missense_Mutation | novel | c.370G>T | p.Ala124Ser | p.A124S | Q12805 | protein_coding | tolerated(0.41) | benign(0.077) | TCGA-AN-A0XN-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Unknown | Unknown | SD |
EFEMP1 | SNV | Missense_Mutation | novel | c.775G>A | p.Asp259Asn | p.D259N | Q12805 | protein_coding | tolerated(0.13) | benign(0.42) | TCGA-AN-A0XW-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
EFEMP1 | SNV | Missense_Mutation | | c.112N>T | p.Val38Leu | p.V38L | Q12805 | protein_coding | tolerated(0.36) | benign(0) | TCGA-B6-A0WY-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Unknown | Unknown | PD |
EFEMP1 | SNV | Missense_Mutation | | c.1448N>C | p.Arg483Thr | p.R483T | Q12805 | protein_coding | deleterious(0) | probably_damaging(0.995) | TCGA-C8-A1HM-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | doxorubicin | CR |
EFEMP1 | deletion | Frame_Shift_Del | novel | c.371delC | p.Ala124GlufsTer51 | p.A124Efs*51 | Q12805 | protein_coding | | | TCGA-AN-A0XN-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Unknown | Unknown | SD |
EFEMP1 | deletion | Frame_Shift_Del | novel | c.968delG | p.Gly323AspfsTer5 | p.G323Dfs*5 | Q12805 | protein_coding | | | TCGA-D8-A27V-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | SD |
EFEMP1 | deletion | Frame_Shift_Del | novel | c.354delN | p.Phe118LeufsTer57 | p.F118Lfs*57 | Q12805 | protein_coding | | | TCGA-EW-A2FV-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | docetaxel | SD |
EFEMP1 | SNV | Missense_Mutation | rs573326655 | c.542N>T | p.Thr181Met | p.T181M | Q12805 | protein_coding | tolerated(0.14) | benign(0.079) | TCGA-VS-A8QH-01 | Cervix | cervical & endocervical cancer | Female | >=65 | I/II | Chemotherapy | gemcitabine | PD |
EFEMP1 | SNV | Missense_Mutation | rs779708532 | c.1016N>G | p.Glu339Gly | p.E339G | Q12805 | protein_coding | deleterious(0) | benign(0.26) | TCGA-A6-2686-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |