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/ECI2_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/ECI2_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/ECI2_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/ECI2_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/ECI2_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/ECI2_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:00193958 | Esophagus | ESCC | fatty acid oxidation | 69/8552 | 103/18723 | 9.95e-06 | 9.44e-05 | 69 |
GO:00344407 | Esophagus | ESCC | lipid oxidation | 71/8552 | 108/18723 | 2.00e-05 | 1.74e-04 | 71 |
GO:00090628 | Esophagus | ESCC | fatty acid catabolic process | 66/8552 | 100/18723 | 3.21e-05 | 2.66e-04 | 66 |
GO:00066318 | Esophagus | ESCC | fatty acid metabolic process | 217/8552 | 390/18723 | 4.21e-05 | 3.39e-04 | 217 |
GO:00066358 | Esophagus | ESCC | fatty acid beta-oxidation | 50/8552 | 74/18723 | 1.16e-04 | 8.04e-04 | 50 |
GO:00723297 | Esophagus | ESCC | monocarboxylic acid catabolic process | 74/8552 | 122/18723 | 6.03e-04 | 3.27e-03 | 74 |
GO:00442427 | Esophagus | ESCC | cellular lipid catabolic process | 121/8552 | 214/18723 | 8.63e-04 | 4.43e-03 | 121 |
GO:00442827 | Esophagus | ESCC | small molecule catabolic process | 201/8552 | 376/18723 | 1.35e-03 | 6.41e-03 | 201 |
GO:00302586 | Esophagus | ESCC | lipid modification | 116/8552 | 212/18723 | 4.90e-03 | 1.89e-02 | 116 |
GO:00160427 | Esophagus | ESCC | lipid catabolic process | 168/8552 | 320/18723 | 7.97e-03 | 2.84e-02 | 168 |
GO:000663112 | Liver | Cirrhotic | fatty acid metabolic process | 165/4634 | 390/18723 | 1.29e-14 | 1.26e-12 | 165 |
GO:004428211 | Liver | Cirrhotic | small molecule catabolic process | 151/4634 | 376/18723 | 2.20e-11 | 1.34e-09 | 151 |
GO:001605411 | Liver | Cirrhotic | organic acid catabolic process | 104/4634 | 240/18723 | 1.91e-10 | 9.53e-09 | 104 |
GO:004639511 | Liver | Cirrhotic | carboxylic acid catabolic process | 102/4634 | 236/18723 | 3.41e-10 | 1.63e-08 | 102 |
GO:001939512 | Liver | Cirrhotic | fatty acid oxidation | 53/4634 | 103/18723 | 4.73e-09 | 1.88e-07 | 53 |
GO:003444011 | Liver | Cirrhotic | lipid oxidation | 53/4634 | 108/18723 | 3.85e-08 | 1.27e-06 | 53 |
GO:007232911 | Liver | Cirrhotic | monocarboxylic acid catabolic process | 56/4634 | 122/18723 | 2.87e-07 | 7.01e-06 | 56 |
GO:000906211 | Liver | Cirrhotic | fatty acid catabolic process | 48/4634 | 100/18723 | 3.87e-07 | 9.13e-06 | 48 |
GO:000663512 | Liver | Cirrhotic | fatty acid beta-oxidation | 38/4634 | 74/18723 | 7.41e-07 | 1.57e-05 | 38 |
GO:004424212 | Liver | Cirrhotic | cellular lipid catabolic process | 82/4634 | 214/18723 | 6.91e-06 | 1.08e-04 | 82 |
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 |
ECI2 | insertion | Nonsense_Mutation | novel | c.887_888insCCTAAGAAAAAGCTGCAGTGAGACTGTTTAGG | p.Thr297LeufsTer10 | p.T297Lfs*10 | O75521 | protein_coding | | | TCGA-A8-A09C-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
ECI2 | deletion | Frame_Shift_Del | novel | c.1081delN | p.His361ThrfsTer25 | p.H361Tfs*25 | O75521 | protein_coding | | | TCGA-AO-A128-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | SD |
ECI2 | insertion | Frame_Shift_Ins | novel | c.740_741insTCCTTGCCCAGAAC | p.Gly248ProfsTer33 | p.G248Pfs*33 | O75521 | protein_coding | | | TCGA-BH-A0HF-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | arimidex | SD |
ECI2 | insertion | Frame_Shift_Ins | novel | c.738_739insCTGAGAA | p.Val247LeufsTer20 | p.V247Lfs*20 | O75521 | protein_coding | | | TCGA-BH-A0HF-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | arimidex | SD |
ECI2 | SNV | Missense_Mutation | novel | c.499N>A | p.Glu167Lys | p.E167K | O75521 | protein_coding | tolerated(0.45) | benign(0.024) | TCGA-C5-A7CK-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | SD |
ECI2 | SNV | Missense_Mutation | | c.511G>C | p.Glu171Gln | p.E171Q | O75521 | protein_coding | tolerated(0.09) | possibly_damaging(0.495) | TCGA-Q1-A5R2-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | PR |
ECI2 | SNV | Missense_Mutation | | c.1035N>T | p.Leu345Phe | p.L345F | O75521 | protein_coding | deleterious(0.01) | possibly_damaging(0.825) | TCGA-Q1-A73P-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
ECI2 | SNV | Missense_Mutation | novel | c.14N>G | p.Tyr5Cys | p.Y5C | O75521 | protein_coding | tolerated_low_confidence(0.17) | benign(0) | TCGA-AA-3845-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
ECI2 | SNV | Missense_Mutation | | c.583T>G | p.Tyr195Asp | p.Y195D | O75521 | protein_coding | deleterious(0.01) | probably_damaging(0.996) | TCGA-AA-3977-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD |
ECI2 | SNV | Missense_Mutation | rs548867219 | c.439N>A | p.Glu147Lys | p.E147K | O75521 | protein_coding | tolerated(0.27) | benign(0.069) | TCGA-AA-3984-01 | Colorectum | colon adenocarcinoma | Female | <65 | I/II | Unknown | Unknown | SD |