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Gene: SAMHD1 |
Gene summary for SAMHD1 |
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Gene information | Species | Human | Gene symbol | SAMHD1 | Gene ID | 25939 |
Gene name | SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 | |
Gene Alias | CHBL2 | |
Cytomap | 20q11.23 | |
Gene Type | protein-coding | GO ID | GO:0000724 | UniProtAcc | Q59H15 |
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Malignant transformation analysis |
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Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
25939 | SAMHD1 | HTA11_2487_2000001011 | Human | Colorectum | SER | 1.18e-15 | 7.70e-01 | -0.1808 |
25939 | SAMHD1 | HTA11_1938_2000001011 | Human | Colorectum | AD | 6.05e-03 | 4.16e-01 | -0.0811 |
25939 | SAMHD1 | HTA11_78_2000001011 | Human | Colorectum | AD | 1.18e-02 | 3.31e-01 | -0.1088 |
25939 | SAMHD1 | HTA11_347_2000001011 | Human | Colorectum | AD | 2.58e-47 | 1.21e+00 | -0.1954 |
25939 | SAMHD1 | HTA11_411_2000001011 | Human | Colorectum | SER | 4.18e-05 | 1.10e+00 | -0.2602 |
25939 | SAMHD1 | HTA11_3361_2000001011 | Human | Colorectum | AD | 3.31e-05 | 4.74e-01 | -0.1207 |
25939 | SAMHD1 | HTA11_83_2000001011 | Human | Colorectum | SER | 1.47e-21 | 1.03e+00 | -0.1526 |
25939 | SAMHD1 | HTA11_696_2000001011 | Human | Colorectum | AD | 1.76e-23 | 7.91e-01 | -0.1464 |
25939 | SAMHD1 | HTA11_866_2000001011 | Human | Colorectum | AD | 2.84e-18 | 6.60e-01 | -0.1001 |
25939 | SAMHD1 | HTA11_1391_2000001011 | Human | Colorectum | AD | 1.15e-11 | 5.64e-01 | -0.059 |
25939 | SAMHD1 | HTA11_2992_2000001011 | Human | Colorectum | SER | 4.06e-02 | 6.43e-01 | -0.1706 |
25939 | SAMHD1 | HTA11_5212_2000001011 | Human | Colorectum | AD | 4.08e-04 | 7.20e-01 | -0.2061 |
25939 | SAMHD1 | HTA11_546_2000001011 | Human | Colorectum | AD | 2.88e-09 | 8.09e-01 | -0.0842 |
25939 | SAMHD1 | HTA11_10623_2000001011 | Human | Colorectum | AD | 5.18e-07 | 7.47e-01 | -0.0177 |
25939 | SAMHD1 | HTA11_7696_3000711011 | Human | Colorectum | AD | 6.18e-03 | 2.92e-01 | 0.0674 |
25939 | SAMHD1 | HTA11_99999970781_79442 | Human | Colorectum | MSS | 1.84e-05 | 3.85e-01 | 0.294 |
25939 | SAMHD1 | HTA11_99999965062_69753 | Human | Colorectum | MSI-H | 4.80e-04 | 1.03e+00 | 0.3487 |
25939 | SAMHD1 | HTA11_99999965104_69814 | Human | Colorectum | MSS | 5.98e-11 | 6.43e-01 | 0.281 |
25939 | SAMHD1 | HTA11_99999971662_82457 | Human | Colorectum | MSS | 4.36e-27 | 1.02e+00 | 0.3859 |
25939 | SAMHD1 | HTA11_99999973899_84307 | Human | Colorectum | MSS | 3.78e-04 | 5.77e-01 | 0.2585 |
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∗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. |
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Malignant transformation related pathway analysis |
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Tissue | Disease Stage | Enriched GO biological Processes |
Colorectum | AD | ![]() |
Colorectum | SER | ![]() |
Colorectum | MSS | ![]() |
Colorectum | MSI-H | ![]() |
Colorectum | FAP | ![]() |
∗Top 15 enriched GO BP terms are showed in the bar plot of each disease state in each tissue. Each row represents a significant GO biological process which is colored according to the -log10(p.adjust). |
Page: 1 2 3 4 5 6 7 8 9 |
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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 |
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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 |
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Cell-cell communication analysis |
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Ligand | Receptor | LRpair | Pathway | Tissue | Disease Stage |
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Single-cell gene regulatory network inference analysis |
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TF | Cell Type | Tissue | Disease Stage | Target Gene | RSS | Regulon Activity |
∗The dot plots of a searched regulon are shown for all cell subpopulations in each disease state of each tissue based on the regulon specific score inferred using pySCENIC and by calculating the average expression. |
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Somatic mutation of malignant transformation related genes |
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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 | insertion | In_Frame_Ins | novel | c.15_16insGAT | p.Asp5dup | p.D5dup | Q9Y3Z3 | protein_coding | TCGA-CV-7416-01 | Oral cavity | head & neck squamous cell carcinoma | Female | <65 | I/II | Chemotherapy | cisplatin | SD | ||
SAMHD1 | SNV | Missense_Mutation | rs201250022 | c.1016N>A | p.Arg339His | p.R339H | Q9Y3Z3 | protein_coding | deleterious(0) | probably_damaging(0.983) | TCGA-XK-AAIW-01 | Prostate | prostate adenocarcinoma | Male | >=65 | 9 | Unknown | Unknown | PD |
SAMHD1 | SNV | Missense_Mutation | c.1822N>G | p.Thr608Ala | p.T608A | Q9Y3Z3 | protein_coding | tolerated_low_confidence(1) | benign(0) | TCGA-CD-A48C-01 | Stomach | stomach adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | PD | |
SAMHD1 | SNV | Missense_Mutation | c.535G>T | p.Val179Phe | p.V179F | Q9Y3Z3 | protein_coding | deleterious(0.02) | benign(0.208) | TCGA-CG-4443-01 | Stomach | stomach adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD | |
SAMHD1 | SNV | Missense_Mutation | c.1265N>C | p.Leu422Pro | p.L422P | Q9Y3Z3 | protein_coding | deleterious(0) | probably_damaging(0.987) | TCGA-CG-4465-01 | Stomach | stomach adenocarcinoma | Female | >=65 | III/IV | Chemotherapy | cisplatin | SD | |
SAMHD1 | SNV | Missense_Mutation | c.693N>T | p.Trp231Cys | p.W231C | Q9Y3Z3 | protein_coding | deleterious(0) | probably_damaging(0.992) | TCGA-CG-4477-01 | Stomach | stomach adenocarcinoma | Female | <65 | I/II | Chemotherapy | cisplatin | PD | |
SAMHD1 | SNV | Missense_Mutation | c.1765C>A | p.Pro589Thr | p.P589T | Q9Y3Z3 | protein_coding | deleterious(0.01) | probably_damaging(0.917) | TCGA-HU-A4G9-01 | Stomach | stomach adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
SAMHD1 | SNV | Missense_Mutation | novel | c.49N>A | p.Asp17Asn | p.D17N | Q9Y3Z3 | protein_coding | tolerated_low_confidence(0.05) | benign(0.026) | TCGA-VQ-A8P2-01 | Stomach | stomach adenocarcinoma | Male | >=65 | III/IV | Unspecific | Complete Response | |
SAMHD1 | SNV | Missense_Mutation | rs559553527 | c.869N>A | p.Arg290His | p.R290H | Q9Y3Z3 | protein_coding | deleterious(0) | probably_damaging(0.996) | TCGA-VQ-A91S-01 | Stomach | stomach adenocarcinoma | Male | <65 | III/IV | Chemotherapy | fluorouracil | CR |
SAMHD1 | insertion | Frame_Shift_Ins | novel | c.1810_1811insCGTGTACA | p.Val604AlafsTer30 | p.V604Afs*30 | Q9Y3Z3 | protein_coding | TCGA-FY-A4B0-01 | Thyroid | thyroid carcinoma | Male | >=65 | I/II | Hormone Therapy | synthroid | SD |
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Related drugs of malignant transformation related genes |
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(DGIdb 4.0) |
Entrez ID | Symbol | Category | Interaction Types | Drug Claim Name | Drug Name | PMIDs |
25939 | SAMHD1 | ENZYME, KINASE | stavudine | STAVUDINE | 30273369 |
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