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/ELAC2_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/ELAC2_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/ELAC2_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/ELAC2_pca_on_diff_genes.png) | AK: Actinic keratosis |
cSCC: Cutaneous squamous cell carcinoma |
SCCIS:squamous cell carcinoma in situ |
GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:00344702 | Liver | HCC | ncRNA processing | 293/7958 | 395/18723 | 4.26e-38 | 6.76e-35 | 293 |
GO:00346601 | Liver | HCC | ncRNA metabolic process | 332/7958 | 485/18723 | 1.48e-31 | 7.80e-29 | 332 |
GO:004427021 | Liver | HCC | cellular nitrogen compound catabolic process | 303/7958 | 451/18723 | 9.76e-27 | 3.64e-24 | 303 |
GO:004670021 | Liver | HCC | heterocycle catabolic process | 299/7958 | 445/18723 | 2.07e-26 | 7.29e-24 | 299 |
GO:190136121 | Liver | HCC | organic cyclic compound catabolic process | 325/7958 | 495/18723 | 6.52e-26 | 2.18e-23 | 325 |
GO:001943921 | Liver | HCC | aromatic compound catabolic process | 309/7958 | 467/18723 | 1.56e-25 | 4.94e-23 | 309 |
GO:000640121 | Liver | HCC | RNA catabolic process | 201/7958 | 278/18723 | 3.88e-24 | 1.02e-21 | 201 |
GO:003465521 | Liver | HCC | nucleobase-containing compound catabolic process | 273/7958 | 407/18723 | 4.84e-24 | 1.23e-21 | 273 |
GO:01400531 | Liver | HCC | mitochondrial gene expression | 82/7958 | 108/18723 | 1.49e-12 | 7.20e-11 | 82 |
GO:00905011 | Liver | HCC | RNA phosphodiester bond hydrolysis | 101/7958 | 152/18723 | 1.99e-09 | 5.63e-08 | 101 |
GO:00311231 | Liver | HCC | RNA 3'-end processing | 81/7958 | 116/18723 | 2.27e-09 | 6.32e-08 | 81 |
GO:0008033 | Liver | HCC | tRNA processing | 87/7958 | 127/18723 | 2.66e-09 | 7.23e-08 | 87 |
GO:0090305 | Liver | HCC | nucleic acid phosphodiester bond hydrolysis | 152/7958 | 261/18723 | 1.90e-07 | 3.46e-06 | 152 |
GO:0006399 | Liver | HCC | tRNA metabolic process | 108/7958 | 179/18723 | 1.07e-06 | 1.59e-05 | 108 |
GO:00346611 | Liver | HCC | ncRNA catabolic process | 31/7958 | 43/18723 | 8.13e-05 | 7.19e-04 | 31 |
GO:0090502 | Liver | HCC | RNA phosphodiester bond hydrolysis, endonucleolytic | 52/7958 | 82/18723 | 1.06e-04 | 9.08e-04 | 52 |
GO:0000959 | Liver | HCC | mitochondrial RNA metabolic process | 30/7958 | 49/18723 | 6.31e-03 | 2.57e-02 | 30 |
GO:0016078 | Liver | HCC | tRNA catabolic process | 10/7958 | 13/18723 | 1.28e-02 | 4.61e-02 | 10 |
GO:00344709 | Oral cavity | OSCC | ncRNA processing | 263/7305 | 395/18723 | 4.38e-29 | 2.78e-26 | 263 |
GO:00346605 | Oral cavity | OSCC | ncRNA metabolic process | 296/7305 | 485/18723 | 2.94e-23 | 6.65e-21 | 296 |
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 |
ELAC2 | SNV | Missense_Mutation | rs756803645 | c.1142N>C | p.Arg381Pro | p.R381P | Q9BQ52 | protein_coding | deleterious(0.01) | probably_damaging(0.997) | TCGA-A8-A06R-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | 5-fluorouracil | CR |
ELAC2 | SNV | Missense_Mutation | novel | c.701N>C | p.Val234Ala | p.V234A | Q9BQ52 | protein_coding | tolerated(0.85) | benign(0) | TCGA-AO-A128-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | SD |
ELAC2 | SNV | Missense_Mutation | rs749460308 | c.1400C>T | p.Ala467Val | p.A467V | Q9BQ52 | protein_coding | tolerated(1) | benign(0) | TCGA-AR-A1AK-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | anastrozole | SD |
ELAC2 | SNV | Missense_Mutation | rs759606875 | c.2326G>C | p.Glu776Gln | p.E776Q | Q9BQ52 | protein_coding | tolerated(0.05) | possibly_damaging(0.867) | TCGA-BH-A5IZ-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | CR |
ELAC2 | SNV | Missense_Mutation | rs756803645 | c.1142N>C | p.Arg381Pro | p.R381P | Q9BQ52 | protein_coding | deleterious(0.01) | probably_damaging(0.997) | TCGA-C8-A12X-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
ELAC2 | insertion | In_Frame_Ins | novel | c.1409_1410insGCACAGGCTTTGGAA | p.Gly470_Pro471insHisArgLeuTrpAsn | p.G470_P471insHRLWN | Q9BQ52 | protein_coding | | | TCGA-A2-A0CT-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | cytoxan | SD |
ELAC2 | insertion | Frame_Shift_Ins | novel | c.767_768insAAGTGATAAAATGGCCTCTTTTATCTGTGTTTGTCCCGCATGTC | p.Leu257SerfsTer68 | p.L257Sfs*68 | Q9BQ52 | protein_coding | | | TCGA-A7-A0CE-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | SD |
ELAC2 | insertion | Frame_Shift_Ins | novel | c.886_887insCTTGGTGGTTCACATG | p.Leu296ProfsTer24 | p.L296Pfs*24 | Q9BQ52 | protein_coding | | | TCGA-AO-A0JM-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | SD |
ELAC2 | insertion | Frame_Shift_Ins | novel | c.884_885insCCAAGGAAAGGCAGATGCCCCCGTG | p.Glu295AspfsTer28 | p.E295Dfs*28 | Q9BQ52 | protein_coding | | | TCGA-AO-A0JM-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | SD |
ELAC2 | insertion | Frame_Shift_Ins | novel | c.632_633insGATTG | p.Ser212IlefsTer32 | p.S212Ifs*32 | Q9BQ52 | protein_coding | | | TCGA-B6-A0RE-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |