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/SAMHD1_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/SAMHD1_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/SAMHD1_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/SAMHD1_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/SAMHD1_pca_on_diff_genes.png) | EOLP: Erosive Oral lichen planus |
LP: leukoplakia |
NEOLP: Non-erosive oral lichen planus |
OSCC: Oral squamous cell carcinoma |
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/SAMHD1_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:0006163 | Colorectum | AD | purine nucleotide metabolic process | 149/3918 | 396/18723 | 1.08e-14 | 2.80e-12 | 149 |
GO:0072521 | Colorectum | AD | purine-containing compound metabolic process | 153/3918 | 416/18723 | 4.34e-14 | 1.01e-11 | 153 |
GO:0009117 | Colorectum | AD | nucleotide metabolic process | 168/3918 | 489/18723 | 2.20e-12 | 3.36e-10 | 168 |
GO:0006753 | Colorectum | AD | nucleoside phosphate metabolic process | 169/3918 | 497/18723 | 4.99e-12 | 6.98e-10 | 169 |
GO:0044270 | Colorectum | AD | cellular nitrogen compound catabolic process | 147/3918 | 451/18723 | 3.35e-09 | 2.23e-07 | 147 |
GO:0046700 | Colorectum | AD | heterocycle catabolic process | 145/3918 | 445/18723 | 4.37e-09 | 2.84e-07 | 145 |
GO:0009144 | Colorectum | AD | purine nucleoside triphosphate metabolic process | 43/3918 | 88/18723 | 5.05e-09 | 3.19e-07 | 43 |
GO:0034655 | Colorectum | AD | nucleobase-containing compound catabolic process | 133/3918 | 407/18723 | 1.56e-08 | 9.12e-07 | 133 |
GO:0019439 | Colorectum | AD | aromatic compound catabolic process | 146/3918 | 467/18723 | 7.48e-08 | 3.84e-06 | 146 |
GO:1901361 | Colorectum | AD | organic cyclic compound catabolic process | 153/3918 | 495/18723 | 8.23e-08 | 4.18e-06 | 153 |
GO:0009141 | Colorectum | AD | nucleoside triphosphate metabolic process | 48/3918 | 112/18723 | 1.27e-07 | 6.02e-06 | 48 |
GO:0034340 | Colorectum | AD | response to type I interferon | 22/3918 | 58/18723 | 2.23e-03 | 1.75e-02 | 22 |
GO:0006195 | Colorectum | AD | purine nucleotide catabolic process | 18/3918 | 46/18723 | 3.67e-03 | 2.60e-02 | 18 |
GO:0060337 | Colorectum | AD | type I interferon signaling pathway | 19/3918 | 50/18723 | 4.23e-03 | 2.91e-02 | 19 |
GO:0071357 | Colorectum | AD | cellular response to type I interferon | 19/3918 | 52/18723 | 6.92e-03 | 4.26e-02 | 19 |
GO:0072523 | Colorectum | AD | purine-containing compound catabolic process | 19/3918 | 52/18723 | 6.92e-03 | 4.26e-02 | 19 |
GO:00061631 | Colorectum | SER | purine nucleotide metabolic process | 109/2897 | 396/18723 | 4.26e-10 | 5.44e-08 | 109 |
GO:00725211 | Colorectum | SER | purine-containing compound metabolic process | 113/2897 | 416/18723 | 4.80e-10 | 5.68e-08 | 113 |
GO:00091441 | Colorectum | SER | purine nucleoside triphosphate metabolic process | 38/2897 | 88/18723 | 4.82e-10 | 5.68e-08 | 38 |
GO:00091171 | Colorectum | SER | nucleotide metabolic process | 122/2897 | 489/18723 | 2.50e-08 | 1.76e-06 | 122 |
Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
hsa05170 | Colorectum | AD | Human immunodeficiency virus 1 infection | 72/2092 | 212/8465 | 1.40e-03 | 8.46e-03 | 5.39e-03 | 72 |
hsa051701 | Colorectum | AD | Human immunodeficiency virus 1 infection | 72/2092 | 212/8465 | 1.40e-03 | 8.46e-03 | 5.39e-03 | 72 |
hsa051702 | Colorectum | SER | Human immunodeficiency virus 1 infection | 58/1580 | 212/8465 | 1.08e-03 | 8.56e-03 | 6.21e-03 | 58 |
hsa051703 | Colorectum | SER | Human immunodeficiency virus 1 infection | 58/1580 | 212/8465 | 1.08e-03 | 8.56e-03 | 6.21e-03 | 58 |
hsa051704 | Colorectum | MSS | Human immunodeficiency virus 1 infection | 69/1875 | 212/8465 | 2.66e-04 | 1.98e-03 | 1.21e-03 | 69 |
hsa03250 | Colorectum | MSS | Viral life cycle - HIV-1 | 23/1875 | 63/8465 | 6.55e-03 | 2.64e-02 | 1.62e-02 | 23 |
hsa051705 | Colorectum | MSS | Human immunodeficiency virus 1 infection | 69/1875 | 212/8465 | 2.66e-04 | 1.98e-03 | 1.21e-03 | 69 |
hsa032501 | Colorectum | MSS | Viral life cycle - HIV-1 | 23/1875 | 63/8465 | 6.55e-03 | 2.64e-02 | 1.62e-02 | 23 |
hsa051706 | Colorectum | FAP | Human immunodeficiency virus 1 infection | 51/1404 | 212/8465 | 2.98e-03 | 1.29e-02 | 7.87e-03 | 51 |
hsa051707 | Colorectum | FAP | Human immunodeficiency virus 1 infection | 51/1404 | 212/8465 | 2.98e-03 | 1.29e-02 | 7.87e-03 | 51 |
hsa032509 | Esophagus | ESCC | Viral life cycle - HIV-1 | 54/4205 | 63/8465 | 2.01e-09 | 2.17e-08 | 1.11e-08 | 54 |
hsa05170210 | Esophagus | ESCC | Human immunodeficiency virus 1 infection | 147/4205 | 212/8465 | 3.37e-09 | 3.53e-08 | 1.81e-08 | 147 |
hsa046234 | Esophagus | ESCC | Cytosolic DNA-sensing pathway | 49/4205 | 75/8465 | 4.35e-03 | 1.12e-02 | 5.74e-03 | 49 |
hsa0325014 | Esophagus | ESCC | Viral life cycle - HIV-1 | 54/4205 | 63/8465 | 2.01e-09 | 2.17e-08 | 1.11e-08 | 54 |
hsa0517038 | Esophagus | ESCC | Human immunodeficiency virus 1 infection | 147/4205 | 212/8465 | 3.37e-09 | 3.53e-08 | 1.81e-08 | 147 |
hsa0462311 | Esophagus | ESCC | Cytosolic DNA-sensing pathway | 49/4205 | 75/8465 | 4.35e-03 | 1.12e-02 | 5.74e-03 | 49 |
hsa032502 | Liver | HCC | Viral life cycle - HIV-1 | 46/4020 | 63/8465 | 3.25e-05 | 1.88e-04 | 1.04e-04 | 46 |
hsa051709 | Liver | HCC | Human immunodeficiency virus 1 infection | 125/4020 | 212/8465 | 4.51e-04 | 1.94e-03 | 1.08e-03 | 125 |
hsa0325011 | Liver | HCC | Viral life cycle - HIV-1 | 46/4020 | 63/8465 | 3.25e-05 | 1.88e-04 | 1.04e-04 | 46 |
hsa0517012 | Liver | HCC | Human immunodeficiency virus 1 infection | 125/4020 | 212/8465 | 4.51e-04 | 1.94e-03 | 1.08e-03 | 125 |
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 |
SAMHD1 | SNV | Missense_Mutation | | c.652N>C | p.Asp218His | p.D218H | Q9Y3Z3 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-A8-A094-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
SAMHD1 | SNV | Missense_Mutation | | c.1756N>A | p.Val586Ile | p.V586I | Q9Y3Z3 | protein_coding | tolerated(0.51) | benign(0.003) | TCGA-BH-A0HF-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | arimidex | SD |
SAMHD1 | SNV | Missense_Mutation | | c.746N>A | p.Gly249Glu | p.G249E | Q9Y3Z3 | protein_coding | tolerated(0.23) | benign(0.012) | TCGA-BH-A18G-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
SAMHD1 | SNV | Missense_Mutation | | c.1287G>C | p.Glu429Asp | p.E429D | Q9Y3Z3 | protein_coding | deleterious(0.05) | benign(0.017) | TCGA-E9-A1N5-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | SD |
SAMHD1 | insertion | Frame_Shift_Ins | novel | c.1839_1840insGGAGTGA | p.Ser614GlyfsTer11 | p.S614Gfs*11 | Q9Y3Z3 | protein_coding | | | TCGA-A8-A07J-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | 5-fluorouracil | CR |
SAMHD1 | insertion | Nonsense_Mutation | novel | c.1837_1838insGTGCCAGGTTGGGGTAAAGAGTTGGAGATGATGGC | p.Ala613GlyfsTer6 | p.A613Gfs*6 | Q9Y3Z3 | protein_coding | | | TCGA-A8-A07J-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | 5-fluorouracil | CR |
SAMHD1 | insertion | Nonsense_Mutation | novel | c.1583_1584insGTAGGTGGCCTGTTACTCACAAACTTTGCACAATTTTTTATT | p.Arg528_Ala529insTer | p.R528_A529ins* | Q9Y3Z3 | protein_coding | | | TCGA-AR-A0TY-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unspecific | Paclitaxel | PD |
SAMHD1 | insertion | In_Frame_Ins | novel | c.1610_1611insCCA | p.Val537_Ser538insHis | p.V537_S538insH | Q9Y3Z3 | protein_coding | | | TCGA-AR-A0U2-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Hormone Therapy | tamoxiphen | PD |
SAMHD1 | insertion | Frame_Shift_Ins | novel | c.1609_1610insACAATAATGCTAAACAGTA | p.Val537AspfsTer25 | p.V537Dfs*25 | Q9Y3Z3 | protein_coding | | | TCGA-AR-A0U2-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Hormone Therapy | tamoxiphen | PD |
SAMHD1 | SNV | Missense_Mutation | novel | c.486N>G | p.His162Gln | p.H162Q | Q9Y3Z3 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-C5-A8XJ-01 | Cervix | cervical & endocervical cancer | Female | >=65 | I/II | Chemotherapy | cisplatin | SD |