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/EIF2B5_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/EIF2B5_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/EIF2B5_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/EIF2B5_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:0034976111 | Esophagus | ESCC | response to endoplasmic reticulum stress | 192/8552 | 256/18723 | 7.15e-22 | 1.30e-19 | 192 |
GO:0006413110 | Esophagus | ESCC | translational initiation | 100/8552 | 118/18723 | 1.16e-18 | 1.25e-16 | 100 |
GO:0006417111 | Esophagus | ESCC | regulation of translation | 304/8552 | 468/18723 | 1.53e-17 | 1.33e-15 | 304 |
GO:0045727111 | Esophagus | ESCC | positive regulation of translation | 107/8552 | 136/18723 | 2.79e-15 | 1.68e-13 | 107 |
GO:0034250111 | Esophagus | ESCC | positive regulation of cellular amide metabolic process | 123/8552 | 162/18723 | 3.32e-15 | 1.93e-13 | 123 |
GO:000644617 | Esophagus | ESCC | regulation of translational initiation | 65/8552 | 79/18723 | 2.04e-11 | 7.07e-10 | 65 |
GO:0009408110 | Esophagus | ESCC | response to heat | 77/8552 | 110/18723 | 2.01e-07 | 3.11e-06 | 77 |
GO:0061458110 | Esophagus | ESCC | reproductive system development | 247/8552 | 427/18723 | 2.24e-07 | 3.42e-06 | 247 |
GO:000756820 | Esophagus | ESCC | aging | 201/8552 | 339/18723 | 2.64e-07 | 3.94e-06 | 201 |
GO:004860818 | Esophagus | ESCC | reproductive structure development | 245/8552 | 424/18723 | 2.82e-07 | 4.14e-06 | 245 |
GO:0043434111 | Esophagus | ESCC | response to peptide hormone | 234/8552 | 414/18723 | 4.93e-06 | 5.21e-05 | 234 |
GO:00425524 | Esophagus | ESCC | myelination | 85/8552 | 134/18723 | 2.51e-05 | 2.13e-04 | 85 |
GO:00072724 | Esophagus | ESCC | ensheathment of neurons | 86/8552 | 136/18723 | 2.68e-05 | 2.24e-04 | 86 |
GO:00083664 | Esophagus | ESCC | axon ensheathment | 86/8552 | 136/18723 | 2.68e-05 | 2.24e-04 | 86 |
GO:00420636 | Esophagus | ESCC | gliogenesis | 172/8552 | 301/18723 | 3.75e-05 | 3.04e-04 | 172 |
GO:001003827 | Esophagus | ESCC | response to metal ion | 208/8552 | 373/18723 | 5.02e-05 | 3.90e-04 | 208 |
GO:000926619 | Esophagus | ESCC | response to temperature stimulus | 106/8552 | 178/18723 | 1.30e-04 | 8.84e-04 | 106 |
GO:00100016 | Esophagus | ESCC | glial cell differentiation | 129/8552 | 225/18723 | 2.73e-04 | 1.65e-03 | 129 |
GO:00459483 | Esophagus | ESCC | positive regulation of translational initiation | 23/8552 | 30/18723 | 5.47e-04 | 3.00e-03 | 23 |
GO:00508528 | Esophagus | ESCC | T cell receptor signaling pathway | 73/8552 | 123/18723 | 1.54e-03 | 7.24e-03 | 73 |
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 |
EIF2B5 | SNV | Missense_Mutation | | c.512N>A | p.Arg171Lys | p.R171K | Q13144 | protein_coding | tolerated(0.08) | probably_damaging(0.991) | TCGA-A8-A0A7-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
EIF2B5 | SNV | Missense_Mutation | novel | c.2155G>A | p.Glu719Lys | p.E719K | Q13144 | protein_coding | tolerated_low_confidence(0.12) | benign(0.371) | TCGA-AC-A2QI-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Chemotherapy | cytoxan | CR |
EIF2B5 | SNV | Missense_Mutation | rs755584111 | c.1031G>A | p.Arg344Gln | p.R344Q | Q13144 | protein_coding | tolerated(0.11) | possibly_damaging(0.511) | TCGA-AN-A03Y-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
EIF2B5 | SNV | Missense_Mutation | | c.706G>A | p.Asp236Asn | p.D236N | Q13144 | protein_coding | tolerated(0.16) | benign(0.003) | TCGA-E2-A14P-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Targeted Molecular therapy | trastuzumab | SD |
EIF2B5 | insertion | Nonsense_Mutation | novel | c.748_749insTATAGTTCATAATACTCTTTGAAGTTGAAGACGCTG | p.Ser250delinsIleTerPheIleIleLeuPheGluValGluAspAlaGly | p.S250delinsI*FIILFEVEDAG | Q13144 | protein_coding | | | TCGA-A8-A07R-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Ancillary | zoledronic | SD |
EIF2B5 | insertion | In_Frame_Ins | novel | c.1029_1030insTCCTGGTCT | p.Tyr343_Arg344insSerTrpSer | p.Y343_R344insSWS | Q13144 | protein_coding | | | TCGA-AN-A03Y-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
EIF2B5 | insertion | In_Frame_Ins | novel | c.1810_1811insGAAAGGCCAGTGAAGGCCCTGGTGTCACCCCAGTCT | p.Pro604delinsArgLysAlaSerGluGlyProGlyValThrProValSer | p.P604delinsRKASEGPGVTPVS | Q13144 | protein_coding | | | TCGA-BH-A0HF-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | arimidex | SD |
EIF2B5 | deletion | Frame_Shift_Del | novel | c.1179delN | p.Thr394ProfsTer30 | p.T394Pfs*30 | Q13144 | protein_coding | | | TCGA-D8-A27V-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | SD |
EIF2B5 | deletion | Frame_Shift_Del | novel | c.1706delN | p.Ser570LeufsTer18 | p.S570Lfs*18 | Q13144 | protein_coding | | | TCGA-D8-A27V-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | SD |
EIF2B5 | SNV | Missense_Mutation | novel | c.403C>A | p.Leu135Ile | p.L135I | Q13144 | protein_coding | tolerated(0.06) | probably_damaging(0.991) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |