Tissue | Expression Dynamics | Abbreviation |
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/ERF_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/ERF_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/ERF_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/ERF_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:003220422 | Oral cavity | EOLP | regulation of telomere maintenance | 24/2218 | 80/18723 | 1.09e-05 | 1.93e-04 | 24 |
GO:004312322 | Oral cavity | EOLP | positive regulation of I-kappaB kinase/NF-kappaB signaling | 42/2218 | 186/18723 | 2.54e-05 | 3.75e-04 | 42 |
GO:004354321 | Oral cavity | EOLP | protein acylation | 51/2218 | 243/18723 | 3.11e-05 | 4.41e-04 | 51 |
GO:200102024 | Oral cavity | EOLP | regulation of response to DNA damage stimulus | 47/2218 | 219/18723 | 3.47e-05 | 4.85e-04 | 47 |
GO:000647321 | Oral cavity | EOLP | protein acetylation | 44/2218 | 201/18723 | 3.69e-05 | 5.12e-04 | 44 |
GO:001063923 | Oral cavity | EOLP | negative regulation of organelle organization | 67/2218 | 348/18723 | 3.78e-05 | 5.21e-04 | 67 |
GO:005109021 | Oral cavity | EOLP | regulation of DNA-binding transcription factor activity | 80/2218 | 440/18723 | 5.77e-05 | 7.31e-04 | 80 |
GO:003220021 | Oral cavity | EOLP | telomere organization | 36/2218 | 159/18723 | 8.79e-05 | 1.04e-03 | 36 |
GO:003313511 | Oral cavity | EOLP | regulation of peptidyl-serine phosphorylation | 33/2218 | 144/18723 | 1.33e-04 | 1.46e-03 | 33 |
GO:190198321 | Oral cavity | EOLP | regulation of protein acetylation | 21/2218 | 77/18723 | 1.74e-04 | 1.80e-03 | 21 |
GO:003806121 | Oral cavity | EOLP | NIK/NF-kappaB signaling | 32/2218 | 143/18723 | 2.64e-04 | 2.56e-03 | 32 |
GO:000700423 | Oral cavity | EOLP | telomere maintenance via telomerase | 18/2218 | 69/18723 | 8.79e-04 | 6.75e-03 | 18 |
GO:001083324 | Oral cavity | EOLP | telomere maintenance via telomere lengthening | 20/2218 | 81/18723 | 9.93e-04 | 7.46e-03 | 20 |
GO:00331381 | Oral cavity | EOLP | positive regulation of peptidyl-serine phosphorylation | 24/2218 | 108/18723 | 1.62e-03 | 1.08e-02 | 24 |
GO:000627822 | Oral cavity | EOLP | RNA-dependent DNA biosynthetic process | 18/2218 | 75/18723 | 2.44e-03 | 1.49e-02 | 18 |
GO:00063022 | Oral cavity | EOLP | double-strand break repair | 44/2218 | 251/18723 | 4.94e-03 | 2.62e-02 | 44 |
GO:190122221 | Oral cavity | EOLP | regulation of NIK/NF-kappaB signaling | 23/2218 | 112/18723 | 5.70e-03 | 2.92e-02 | 23 |
GO:005109221 | Oral cavity | EOLP | positive regulation of NF-kappaB transcription factor activity | 29/2218 | 152/18723 | 6.29e-03 | 3.13e-02 | 29 |
GO:007189722 | Oral cavity | EOLP | DNA biosynthetic process | 33/2218 | 180/18723 | 7.00e-03 | 3.40e-02 | 33 |
GO:20007791 | Oral cavity | EOLP | regulation of double-strand break repair | 18/2218 | 85/18723 | 9.81e-03 | 4.43e-02 | 18 |
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 |
ERF | SNV | Missense_Mutation | novel | c.260N>G | p.Tyr87Cys | p.Y87C | P50548 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-4H-AAAK-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | cyclophosphamide | CR |
ERF | SNV | Missense_Mutation | | c.1541N>A | p.Arg514His | p.R514H | P50548 | protein_coding | deleterious_low_confidence(0) | possibly_damaging(0.511) | TCGA-A8-A06X-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
ERF | SNV | Missense_Mutation | rs368169058 | c.427N>T | p.Arg143Cys | p.R143C | P50548 | protein_coding | deleterious(0) | probably_damaging(0.928) | TCGA-W8-A86G-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | arimidex | SD |
ERF | SNV | Missense_Mutation | | c.610N>A | p.Pro204Thr | p.P204T | P50548 | protein_coding | tolerated(0.53) | benign(0.362) | TCGA-C5-A1BQ-01 | Cervix | cervical & endocervical cancer | Female | >=65 | III/IV | Chemotherapy | cisplatin | CR |
ERF | SNV | Missense_Mutation | | c.1471N>A | p.Asp491Asn | p.D491N | P50548 | protein_coding | deleterious(0) | possibly_damaging(0.746) | TCGA-EK-A2PG-01 | Cervix | cervical & endocervical cancer | Female | >=65 | I/II | Unknown | Unknown | SD |
ERF | SNV | Missense_Mutation | | c.1513N>C | p.Glu505Gln | p.E505Q | P50548 | protein_coding | tolerated_low_confidence(0.79) | benign(0.014) | TCGA-EK-A2RB-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
ERF | SNV | Missense_Mutation | novel | c.1519G>A | p.Glu507Lys | p.E507K | P50548 | protein_coding | deleterious_low_confidence(0) | benign(0.007) | TCGA-VS-A958-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
ERF | SNV | Missense_Mutation | | c.1628N>C | p.Leu543Pro | p.L543P | P50548 | protein_coding | deleterious_low_confidence(0) | probably_damaging(0.996) | TCGA-A6-3809-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
ERF | SNV | Missense_Mutation | rs767080643 | c.616N>A | p.Ala206Thr | p.A206T | P50548 | protein_coding | tolerated(0.43) | benign(0.082) | TCGA-AA-3492-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
ERF | SNV | Missense_Mutation | novel | c.502N>C | p.Ser168Pro | p.S168P | P50548 | protein_coding | tolerated(0.09) | possibly_damaging(0.763) | TCGA-AA-3877-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |