Tissue | Expression Dynamics | Abbreviation |
Colorectum (GSE201348) | ![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/Colorectum/Becker/ITPR2_pca_on_diff_genes.png) | FAP: Familial adenomatous polyposis |
CRC: Colorectal cancer |
Colorectum (HTA11) | ![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/Colorectum/Chen/ITPR2_pca_on_diff_genes.png) | AD: Adenomas |
SER: Sessile serrated lesions |
MSI-H: Microsatellite-high colorectal cancer |
MSS: Microsatellite stable colorectal cancer |
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/ITPR2_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/ITPR2_pca_on_diff_genes.png) | HCC: Hepatocellular carcinoma |
NAFLD: Non-alcoholic fatty liver disease |
Lung | ![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/Lung/ITPR2_pca_on_diff_genes.png) | AAH: Atypical adenomatous hyperplasia |
AIS: Adenocarcinoma in situ |
IAC: Invasive lung adenocarcinoma |
MIA: Minimally invasive adenocarcinoma |
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/ITPR2_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/ITPR2_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/ITPR2_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:00704821 | Colorectum | SER | response to oxygen levels | 79/2897 | 347/18723 | 1.99e-04 | 3.64e-03 | 79 |
GO:00016661 | Colorectum | SER | response to hypoxia | 69/2897 | 307/18723 | 7.07e-04 | 9.39e-03 | 69 |
GO:00362931 | Colorectum | SER | response to decreased oxygen levels | 71/2897 | 322/18723 | 1.04e-03 | 1.22e-02 | 71 |
GO:00713201 | Colorectum | SER | cellular response to cAMP | 16/2897 | 53/18723 | 5.09e-03 | 3.91e-02 | 16 |
GO:00516511 | Colorectum | SER | maintenance of location in cell | 47/2897 | 214/18723 | 7.20e-03 | 4.99e-02 | 47 |
GO:00973051 | Colorectum | MSS | response to alcohol | 66/3467 | 253/18723 | 1.73e-03 | 1.54e-02 | 66 |
GO:00516512 | Colorectum | MSS | maintenance of location in cell | 57/3467 | 214/18723 | 2.07e-03 | 1.76e-02 | 57 |
GO:00704822 | Colorectum | MSS | response to oxygen levels | 85/3467 | 347/18723 | 3.08e-03 | 2.34e-02 | 85 |
GO:00016662 | Colorectum | MSS | response to hypoxia | 75/3467 | 307/18723 | 5.56e-03 | 3.78e-02 | 75 |
GO:00973052 | Colorectum | MSI-H | response to alcohol | 33/1319 | 253/18723 | 4.53e-04 | 9.61e-03 | 33 |
GO:00704823 | Colorectum | FAP | response to oxygen levels | 77/2622 | 347/18723 | 2.08e-05 | 5.05e-04 | 77 |
GO:00016663 | Colorectum | FAP | response to hypoxia | 68/2622 | 307/18723 | 6.53e-05 | 1.25e-03 | 68 |
GO:00362932 | Colorectum | FAP | response to decreased oxygen levels | 70/2622 | 322/18723 | 9.49e-05 | 1.61e-03 | 70 |
GO:00515911 | Colorectum | FAP | response to cAMP | 27/2622 | 93/18723 | 1.26e-04 | 2.03e-03 | 27 |
GO:0046683 | Colorectum | FAP | response to organophosphorus | 33/2622 | 131/18723 | 4.61e-04 | 5.39e-03 | 33 |
GO:00973053 | Colorectum | FAP | response to alcohol | 55/2622 | 253/18723 | 5.05e-04 | 5.78e-03 | 55 |
GO:00713202 | Colorectum | FAP | cellular response to cAMP | 17/2622 | 53/18723 | 6.20e-04 | 6.82e-03 | 17 |
GO:0097306 | Colorectum | FAP | cellular response to alcohol | 25/2622 | 93/18723 | 7.87e-04 | 8.29e-03 | 25 |
GO:0014074 | Colorectum | FAP | response to purine-containing compound | 35/2622 | 148/18723 | 1.09e-03 | 1.05e-02 | 35 |
GO:00516513 | Colorectum | FAP | maintenance of location in cell | 46/2622 | 214/18723 | 1.76e-03 | 1.53e-02 | 46 |
Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
hsa050103 | Colorectum | SER | Alzheimer disease | 146/1580 | 384/8465 | 6.52e-20 | 2.40e-18 | 1.75e-18 | 146 |
hsa050223 | Colorectum | SER | Pathways of neurodegeneration - multiple diseases | 168/1580 | 476/8465 | 6.23e-19 | 2.07e-17 | 1.50e-17 | 168 |
hsa051313 | Colorectum | SER | Shigellosis | 87/1580 | 247/8465 | 3.07e-10 | 7.27e-09 | 5.28e-09 | 87 |
hsa049223 | Colorectum | SER | Glucagon signaling pathway | 38/1580 | 107/8465 | 2.57e-05 | 3.28e-04 | 2.38e-04 | 38 |
hsa050173 | Colorectum | SER | Spinocerebellar ataxia | 46/1580 | 143/8465 | 6.78e-05 | 7.51e-04 | 5.45e-04 | 46 |
hsa047233 | Colorectum | SER | Retrograde endocannabinoid signaling | 47/1580 | 148/8465 | 8.10e-05 | 8.68e-04 | 6.30e-04 | 47 |
hsa049713 | Colorectum | SER | Gastric acid secretion | 27/1580 | 76/8465 | 3.65e-04 | 3.27e-03 | 2.38e-03 | 27 |
hsa052053 | Colorectum | SER | Proteoglycans in cancer | 58/1580 | 205/8465 | 4.37e-04 | 3.82e-03 | 2.77e-03 | 58 |
hsa051703 | Colorectum | SER | Human immunodeficiency virus 1 infection | 58/1580 | 212/8465 | 1.08e-03 | 8.56e-03 | 6.21e-03 | 58 |
hsa049283 | Colorectum | SER | Parathyroid hormone synthesis, secretion and action | 31/1580 | 106/8465 | 5.20e-03 | 3.28e-02 | 2.38e-02 | 31 |
hsa047283 | Colorectum | SER | Dopaminergic synapse | 37/1580 | 132/8465 | 5.27e-03 | 3.28e-02 | 2.38e-02 | 37 |
hsa049723 | Colorectum | SER | Pancreatic secretion | 30/1580 | 102/8465 | 5.41e-03 | 3.28e-02 | 2.38e-02 | 30 |
hsa049151 | Colorectum | SER | Estrogen signaling pathway | 38/1580 | 138/8465 | 6.51e-03 | 3.68e-02 | 2.67e-02 | 38 |
hsa051633 | Colorectum | SER | Human cytomegalovirus infection | 57/1580 | 225/8465 | 7.40e-03 | 3.84e-02 | 2.79e-02 | 57 |
hsa047203 | Colorectum | SER | Long-term potentiation | 21/1580 | 67/8465 | 8.52e-03 | 4.26e-02 | 3.09e-02 | 21 |
hsa049123 | Colorectum | SER | GnRH signaling pathway | 27/1580 | 93/8465 | 9.68e-03 | 4.72e-02 | 3.43e-02 | 27 |
hsa050124 | Colorectum | MSS | Parkinson disease | 140/1875 | 266/8465 | 2.32e-28 | 7.79e-26 | 4.77e-26 | 140 |
hsa050104 | Colorectum | MSS | Alzheimer disease | 169/1875 | 384/8465 | 1.21e-22 | 1.01e-20 | 6.21e-21 | 169 |
hsa050204 | Colorectum | MSS | Prion disease | 129/1875 | 273/8465 | 1.04e-20 | 5.00e-19 | 3.06e-19 | 129 |
hsa050224 | Colorectum | MSS | Pathways of neurodegeneration - multiple diseases | 192/1875 | 476/8465 | 2.79e-20 | 1.04e-18 | 6.36e-19 | 192 |
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 |
ITPR2 | SNV | Missense_Mutation | novel | c.771G>C | p.Glu257Asp | p.E257D | Q14571 | protein_coding | tolerated(0.08) | benign(0.186) | TCGA-5L-AAT1-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Hormone Therapy | letrozol | SD |
ITPR2 | SNV | Missense_Mutation | | c.3469A>G | p.Asn1157Asp | p.N1157D | Q14571 | protein_coding | tolerated(0.7) | benign(0) | TCGA-A2-A25D-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Hormone Therapy | tamoxiphen | SD |
ITPR2 | SNV | Missense_Mutation | | c.7276N>A | p.Asp2426Asn | p.D2426N | Q14571 | protein_coding | deleterious(0.04) | probably_damaging(0.936) | TCGA-A8-A06Q-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
ITPR2 | SNV | Missense_Mutation | | c.3884N>G | p.His1295Arg | p.H1295R | Q14571 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-AC-A23H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
ITPR2 | SNV | Missense_Mutation | | c.4252N>A | p.Glu1418Lys | p.E1418K | Q14571 | protein_coding | deleterious(0) | possibly_damaging(0.871) | TCGA-AO-A0JA-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Hormone Therapy | leuprolide | SD |
ITPR2 | SNV | Missense_Mutation | | c.365A>T | p.Gln122Leu | p.Q122L | Q14571 | protein_coding | deleterious(0) | possibly_damaging(0.893) | TCGA-AR-A256-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | PD |
ITPR2 | SNV | Missense_Mutation | | c.3934N>A | p.Phe1312Ile | p.F1312I | Q14571 | protein_coding | deleterious(0) | probably_damaging(0.99) | TCGA-B6-A0I9-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Unknown | Unknown | PD |
ITPR2 | SNV | Missense_Mutation | | c.3704N>C | p.Met1235Thr | p.M1235T | Q14571 | protein_coding | deleterious(0) | possibly_damaging(0.602) | TCGA-BH-A18G-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
ITPR2 | SNV | Missense_Mutation | | c.1527N>A | p.Met509Ile | p.M509I | Q14571 | protein_coding | tolerated(0.08) | probably_damaging(0.949) | TCGA-BH-A1EY-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
ITPR2 | SNV | Missense_Mutation | | c.5021N>A | p.Ile1674Asn | p.I1674N | Q14571 | protein_coding | deleterious(0) | possibly_damaging(0.905) | TCGA-D8-A1XK-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicine+cyclophosphamide | SD |