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:00316479 | Breast | Precancer | regulation of protein stability | 38/1080 | 298/18723 | 3.73e-06 | 1.19e-04 | 38 |
GO:003164714 | Breast | IDC | regulation of protein stability | 50/1434 | 298/18723 | 1.14e-07 | 6.57e-06 | 50 |
GO:003164724 | Breast | DCIS | regulation of protein stability | 51/1390 | 298/18723 | 1.63e-08 | 1.15e-06 | 51 |
GO:004854510 | Cervix | CC | response to steroid hormone | 74/2311 | 339/18723 | 5.71e-07 | 2.09e-05 | 74 |
GO:00305229 | Cervix | CC | intracellular receptor signaling pathway | 60/2311 | 265/18723 | 1.89e-06 | 5.97e-05 | 60 |
GO:003164710 | Cervix | CC | regulation of protein stability | 63/2311 | 298/18723 | 1.14e-05 | 2.45e-04 | 63 |
GO:190165410 | Cervix | CC | response to ketone | 45/2311 | 194/18723 | 1.83e-05 | 3.44e-04 | 45 |
GO:00165705 | Cervix | CC | histone modification | 84/2311 | 463/18723 | 1.70e-04 | 2.01e-03 | 84 |
GO:00325704 | Cervix | CC | response to progesterone | 13/2311 | 37/18723 | 2.99e-04 | 3.21e-03 | 13 |
GO:00713839 | Cervix | CC | cellular response to steroid hormone stimulus | 40/2311 | 204/18723 | 1.93e-03 | 1.42e-02 | 40 |
GO:00305188 | Cervix | CC | intracellular steroid hormone receptor signaling pathway | 25/2311 | 116/18723 | 3.59e-03 | 2.30e-02 | 25 |
GO:0031647 | Colorectum | AD | regulation of protein stability | 108/3918 | 298/18723 | 6.33e-10 | 5.08e-08 | 108 |
GO:0010639 | Colorectum | AD | negative regulation of organelle organization | 114/3918 | 348/18723 | 1.41e-07 | 6.49e-06 | 114 |
GO:0051052 | Colorectum | AD | regulation of DNA metabolic process | 116/3918 | 359/18723 | 2.47e-07 | 1.00e-05 | 116 |
GO:0051054 | Colorectum | AD | positive regulation of DNA metabolic process | 73/3918 | 201/18723 | 3.27e-07 | 1.29e-05 | 73 |
GO:2001252 | Colorectum | AD | positive regulation of chromosome organization | 35/3918 | 82/18723 | 6.90e-06 | 1.72e-04 | 35 |
GO:2000278 | Colorectum | AD | regulation of DNA biosynthetic process | 41/3918 | 106/18723 | 2.17e-05 | 4.33e-04 | 41 |
GO:0001701 | Colorectum | AD | in utero embryonic development | 110/3918 | 367/18723 | 2.36e-05 | 4.62e-04 | 110 |
GO:2001020 | Colorectum | AD | regulation of response to DNA damage stimulus | 71/3918 | 219/18723 | 4.38e-05 | 7.65e-04 | 71 |
GO:0032206 | Colorectum | AD | positive regulation of telomere maintenance | 23/3918 | 52/18723 | 1.31e-04 | 1.88e-03 | 23 |
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 |