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/TERF2IP_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/TERF2IP_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/TERF2IP_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/TERF2IP_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/TERF2IP_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/TERF2IP_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:19012223 | Prostate | BPH | regulation of NIK/NF-kappaB signaling | 34/3107 | 112/18723 | 2.13e-04 | 1.73e-03 | 34 |
GO:19019832 | Prostate | BPH | regulation of protein acetylation | 25/3107 | 77/18723 | 4.62e-04 | 3.32e-03 | 25 |
GO:00510906 | Prostate | BPH | regulation of DNA-binding transcription factor activity | 100/3107 | 440/18723 | 4.71e-04 | 3.37e-03 | 100 |
GO:00510924 | Prostate | BPH | positive regulation of NF-kappaB transcription factor activity | 40/3107 | 152/18723 | 1.54e-03 | 9.08e-03 | 40 |
GO:00510916 | Prostate | BPH | positive regulation of DNA-binding transcription factor activity | 62/3107 | 260/18723 | 1.58e-03 | 9.23e-03 | 62 |
GO:00435433 | Prostate | BPH | protein acylation | 58/3107 | 243/18723 | 2.14e-03 | 1.19e-02 | 58 |
GO:000072315 | Prostate | Tumor | telomere maintenance | 52/3246 | 131/18723 | 1.13e-09 | 5.43e-08 | 52 |
GO:003220414 | Prostate | Tumor | regulation of telomere maintenance | 37/3246 | 80/18723 | 1.97e-09 | 8.81e-08 | 37 |
GO:004232618 | Prostate | Tumor | negative regulation of phosphorylation | 112/3246 | 385/18723 | 6.17e-09 | 2.42e-07 | 112 |
GO:004593619 | Prostate | Tumor | negative regulation of phosphate metabolic process | 124/3246 | 441/18723 | 9.08e-09 | 3.44e-07 | 124 |
GO:001056319 | Prostate | Tumor | negative regulation of phosphorus metabolic process | 124/3246 | 442/18723 | 1.05e-08 | 3.88e-07 | 124 |
GO:000700415 | Prostate | Tumor | telomere maintenance via telomerase | 31/3246 | 69/18723 | 9.10e-08 | 2.45e-06 | 31 |
GO:001083315 | Prostate | Tumor | telomere maintenance via telomere lengthening | 34/3246 | 81/18723 | 1.69e-07 | 4.20e-06 | 34 |
GO:000193318 | Prostate | Tumor | negative regulation of protein phosphorylation | 97/3246 | 342/18723 | 2.36e-07 | 5.60e-06 | 97 |
GO:000627814 | Prostate | Tumor | RNA-dependent DNA biosynthetic process | 31/3246 | 75/18723 | 8.78e-07 | 1.73e-05 | 31 |
GO:003220012 | Prostate | Tumor | telomere organization | 52/3246 | 159/18723 | 1.73e-06 | 3.05e-05 | 52 |
GO:003304414 | Prostate | Tumor | regulation of chromosome organization | 57/3246 | 187/18723 | 6.74e-06 | 1.02e-04 | 57 |
GO:000724916 | Prostate | Tumor | I-kappaB kinase/NF-kappaB signaling | 77/3246 | 281/18723 | 1.55e-05 | 2.09e-04 | 77 |
GO:000647311 | Prostate | Tumor | protein acetylation | 59/3246 | 201/18723 | 1.68e-05 | 2.25e-04 | 59 |
GO:004312217 | Prostate | Tumor | regulation of I-kappaB kinase/NF-kappaB signaling | 69/3246 | 249/18723 | 2.83e-05 | 3.43e-04 | 69 |
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 |
TERF2IP | SNV | Missense_Mutation | | c.922N>G | p.Gln308Glu | p.Q308E | Q9NYB0 | protein_coding | tolerated(0.28) | benign(0.001) | TCGA-A8-A08L-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Unknown | Unknown | SD |
TERF2IP | SNV | Missense_Mutation | rs527404806 | c.839G>A | p.Cys280Tyr | p.C280Y | Q9NYB0 | protein_coding | tolerated(0.14) | possibly_damaging(0.854) | TCGA-B6-A0WY-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Unknown | Unknown | PD |
TERF2IP | insertion | Frame_Shift_Ins | novel | c.900_901insATTGTTGCCTTTTGTAGTCTGTTTTATTATTTGATATTTG | p.Glu301IlefsTer29 | p.E301Ifs*29 | Q9NYB0 | protein_coding | | | TCGA-AN-A0FS-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
TERF2IP | SNV | Missense_Mutation | novel | c.506N>C | p.Lys169Thr | p.K169T | Q9NYB0 | protein_coding | deleterious(0.01) | probably_damaging(0.963) | TCGA-EA-A3QD-01 | Cervix | cervical & endocervical cancer | Female | <65 | III/IV | Chemotherapy | cisplatin | CR |
TERF2IP | SNV | Missense_Mutation | | c.1194G>T | p.Lys398Asn | p.K398N | Q9NYB0 | protein_coding | deleterious_low_confidence(0) | benign(0.006) | TCGA-CA-6718-01 | Colorectum | colon adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | PD |
TERF2IP | SNV | Missense_Mutation | rs367821647 | c.1052C>T | p.Ala351Val | p.A351V | Q9NYB0 | protein_coding | deleterious(0.04) | benign(0.007) | TCGA-AG-A00H-01 | Colorectum | rectum adenocarcinoma | Male | >=65 | I/II | Chemotherapy | 5-fluorouracil | PD |
TERF2IP | SNV | Missense_Mutation | rs367571165 | c.1190N>A | p.Arg397Gln | p.R397Q | Q9NYB0 | protein_coding | tolerated(0.12) | probably_damaging(0.988) | TCGA-EI-6917-01 | Colorectum | rectum adenocarcinoma | Male | <65 | III/IV | Chemotherapy | 5fluorouracil+oxaciplatina+l-folinian | SD |
TERF2IP | SNV | Missense_Mutation | rs148810861 | c.1105N>T | p.Asp369Tyr | p.D369Y | Q9NYB0 | protein_coding | deleterious(0) | probably_damaging(0.96) | TCGA-A5-A0G2-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
TERF2IP | SNV | Missense_Mutation | novel | c.745N>A | p.Ala249Thr | p.A249T | Q9NYB0 | protein_coding | tolerated(0.53) | benign(0) | TCGA-AJ-A3BH-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | Unknown | I/II | Unknown | Unknown | SD |
TERF2IP | SNV | Missense_Mutation | | c.832A>G | p.Thr278Ala | p.T278A | Q9NYB0 | protein_coding | tolerated(0.11) | benign(0.225) | TCGA-AP-A051-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |