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Gene: SMG1 |
Gene summary for SMG1 |
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Gene information | Species | Human | Gene symbol | SMG1 | Gene ID | 23049 |
Gene name | SMG1 nonsense mediated mRNA decay associated PI3K related kinase | |
Gene Alias | 61E3.4 | |
Cytomap | 16p12.3 | |
Gene Type | protein-coding | GO ID | GO:0000184 | UniProtAcc | Q96Q15 |
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Malignant transformation analysis |
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Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
23049 | SMG1 | CA_HPV_1 | Human | Cervix | CC | 6.90e-07 | 1.84e-01 | 0.0264 |
23049 | SMG1 | CCI_2 | Human | Cervix | CC | 5.93e-14 | 1.40e+00 | 0.5249 |
23049 | SMG1 | CCI_3 | Human | Cervix | CC | 7.78e-07 | 8.77e-01 | 0.516 |
23049 | SMG1 | HTA11_3410_2000001011 | Human | Colorectum | AD | 5.34e-19 | -7.29e-01 | 0.0155 |
23049 | SMG1 | HTA11_2487_2000001011 | Human | Colorectum | SER | 7.99e-05 | -4.43e-01 | -0.1808 |
23049 | SMG1 | HTA11_3361_2000001011 | Human | Colorectum | AD | 3.80e-03 | -5.47e-01 | -0.1207 |
23049 | SMG1 | HTA11_696_2000001011 | Human | Colorectum | AD | 1.73e-09 | -3.82e-01 | -0.1464 |
23049 | SMG1 | HTA11_866_2000001011 | Human | Colorectum | AD | 1.09e-02 | -3.12e-01 | -0.1001 |
23049 | SMG1 | HTA11_5212_2000001011 | Human | Colorectum | AD | 5.80e-03 | -6.25e-01 | -0.2061 |
23049 | SMG1 | HTA11_9341_2000001011 | Human | Colorectum | SER | 2.68e-02 | -8.29e-01 | -0.00410000000000005 |
23049 | SMG1 | HTA11_866_3004761011 | Human | Colorectum | AD | 1.23e-10 | -6.40e-01 | 0.096 |
23049 | SMG1 | HTA11_8622_2000001021 | Human | Colorectum | SER | 1.86e-06 | -8.79e-01 | 0.0528 |
23049 | SMG1 | HTA11_10711_2000001011 | Human | Colorectum | AD | 5.36e-03 | -4.39e-01 | 0.0338 |
23049 | SMG1 | HTA11_7696_3000711011 | Human | Colorectum | AD | 1.00e-22 | -6.37e-01 | 0.0674 |
23049 | SMG1 | HTA11_11156_2000001011 | Human | Colorectum | AD | 2.62e-03 | -1.04e+00 | 0.0397 |
23049 | SMG1 | HTA11_6818_2000001021 | Human | Colorectum | AD | 4.05e-09 | -6.25e-01 | 0.0588 |
23049 | SMG1 | HTA11_99999970781_79442 | Human | Colorectum | MSS | 2.00e-14 | -4.25e-01 | 0.294 |
23049 | SMG1 | HTA11_99999971662_82457 | Human | Colorectum | MSS | 5.36e-08 | -3.68e-01 | 0.3859 |
23049 | SMG1 | HTA11_99999974143_84620 | Human | Colorectum | MSS | 5.32e-32 | -6.88e-01 | 0.3005 |
23049 | SMG1 | F007 | Human | Colorectum | FAP | 2.94e-02 | -2.93e-01 | 0.1176 |
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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). |
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GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:00069139 | Cervix | CC | nucleocytoplasmic transport | 71/2311 | 301/18723 | 4.04e-08 | 2.54e-06 | 71 |
GO:00511699 | Cervix | CC | nuclear transport | 71/2311 | 301/18723 | 4.04e-08 | 2.54e-06 | 71 |
GO:003133010 | Cervix | CC | negative regulation of cellular catabolic process | 63/2311 | 262/18723 | 1.10e-07 | 5.68e-06 | 63 |
GO:00064029 | Cervix | CC | mRNA catabolic process | 56/2311 | 232/18723 | 4.81e-07 | 1.83e-05 | 56 |
GO:000989510 | Cervix | CC | negative regulation of catabolic process | 69/2311 | 320/18723 | 2.15e-06 | 6.55e-05 | 69 |
GO:00064019 | Cervix | CC | RNA catabolic process | 62/2311 | 278/18723 | 2.18e-06 | 6.56e-05 | 62 |
GO:00511689 | Cervix | CC | nuclear export | 38/2311 | 154/18723 | 1.86e-05 | 3.46e-04 | 38 |
GO:00009567 | Cervix | CC | nuclear-transcribed mRNA catabolic process | 30/2311 | 112/18723 | 2.60e-05 | 4.37e-04 | 30 |
GO:00512368 | Cervix | CC | establishment of RNA localization | 39/2311 | 166/18723 | 4.76e-05 | 7.25e-04 | 39 |
GO:00181057 | Cervix | CC | peptidyl-serine phosphorylation | 63/2311 | 315/18723 | 6.65e-05 | 9.47e-04 | 63 |
GO:00506578 | Cervix | CC | nucleic acid transport | 38/2311 | 163/18723 | 7.06e-05 | 9.85e-04 | 38 |
GO:00506588 | Cervix | CC | RNA transport | 38/2311 | 163/18723 | 7.06e-05 | 9.85e-04 | 38 |
GO:00182096 | Cervix | CC | peptidyl-serine modification | 66/2311 | 338/18723 | 9.58e-05 | 1.25e-03 | 66 |
GO:00162367 | Cervix | CC | macroautophagy | 58/2311 | 291/18723 | 1.40e-04 | 1.70e-03 | 58 |
GO:20010209 | Cervix | CC | regulation of response to DNA damage stimulus | 46/2311 | 219/18723 | 1.92e-04 | 2.23e-03 | 46 |
GO:000640310 | Cervix | CC | RNA localization | 43/2311 | 201/18723 | 2.00e-04 | 2.29e-03 | 43 |
GO:00510284 | Cervix | CC | mRNA transport | 31/2311 | 130/18723 | 2.05e-04 | 2.33e-03 | 31 |
GO:00105067 | Cervix | CC | regulation of autophagy | 61/2311 | 317/18723 | 2.61e-04 | 2.87e-03 | 61 |
GO:00467008 | Cervix | CC | heterocycle catabolic process | 80/2311 | 445/18723 | 3.23e-04 | 3.42e-03 | 80 |
GO:00346559 | Cervix | CC | nucleobase-containing compound catabolic process | 74/2311 | 407/18723 | 3.77e-04 | 3.88e-03 | 74 |
Page: 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 23 24 25 26 27 28 29 30 31 32 33 34 35 36 37 38 |
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Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
hsa03015 | Colorectum | AD | mRNA surveillance pathway | 35/2092 | 97/8465 | 7.95e-03 | 3.13e-02 | 2.00e-02 | 35 |
hsa030151 | Colorectum | AD | mRNA surveillance pathway | 35/2092 | 97/8465 | 7.95e-03 | 3.13e-02 | 2.00e-02 | 35 |
hsa030152 | Colorectum | FAP | mRNA surveillance pathway | 26/1404 | 97/8465 | 7.11e-03 | 2.64e-02 | 1.60e-02 | 26 |
hsa030153 | Colorectum | FAP | mRNA surveillance pathway | 26/1404 | 97/8465 | 7.11e-03 | 2.64e-02 | 1.60e-02 | 26 |
hsa030159 | Esophagus | HGIN | mRNA surveillance pathway | 30/1383 | 97/8465 | 2.48e-04 | 2.69e-03 | 2.14e-03 | 30 |
hsa0301514 | Esophagus | HGIN | mRNA surveillance pathway | 30/1383 | 97/8465 | 2.48e-04 | 2.69e-03 | 2.14e-03 | 30 |
hsa0301524 | Esophagus | ESCC | mRNA surveillance pathway | 72/4205 | 97/8465 | 6.12e-07 | 4.10e-06 | 2.10e-06 | 72 |
hsa0301534 | Esophagus | ESCC | mRNA surveillance pathway | 72/4205 | 97/8465 | 6.12e-07 | 4.10e-06 | 2.10e-06 | 72 |
hsa030154 | Liver | Cirrhotic | mRNA surveillance pathway | 46/2530 | 97/8465 | 1.92e-04 | 1.30e-03 | 8.03e-04 | 46 |
hsa0301511 | Liver | Cirrhotic | mRNA surveillance pathway | 46/2530 | 97/8465 | 1.92e-04 | 1.30e-03 | 8.03e-04 | 46 |
hsa0301521 | Liver | HCC | mRNA surveillance pathway | 66/4020 | 97/8465 | 3.16e-05 | 1.88e-04 | 1.04e-04 | 66 |
hsa0301531 | Liver | HCC | mRNA surveillance pathway | 66/4020 | 97/8465 | 3.16e-05 | 1.88e-04 | 1.04e-04 | 66 |
hsa030158 | Oral cavity | OSCC | mRNA surveillance pathway | 75/3704 | 97/8465 | 1.30e-11 | 2.01e-10 | 1.02e-10 | 75 |
hsa0301513 | Oral cavity | OSCC | mRNA surveillance pathway | 75/3704 | 97/8465 | 1.30e-11 | 2.01e-10 | 1.02e-10 | 75 |
hsa0301541 | Oral cavity | EOLP | mRNA surveillance pathway | 30/1218 | 97/8465 | 2.26e-05 | 1.20e-04 | 7.07e-05 | 30 |
hsa0301551 | Oral cavity | EOLP | mRNA surveillance pathway | 30/1218 | 97/8465 | 2.26e-05 | 1.20e-04 | 7.07e-05 | 30 |
hsa030156 | Oral cavity | NEOLP | mRNA surveillance pathway | 25/1112 | 97/8465 | 5.70e-04 | 3.18e-03 | 2.00e-03 | 25 |
hsa030157 | Oral cavity | NEOLP | mRNA surveillance pathway | 25/1112 | 97/8465 | 5.70e-04 | 3.18e-03 | 2.00e-03 | 25 |
hsa030155 | Prostate | BPH | mRNA surveillance pathway | 32/1718 | 97/8465 | 2.20e-03 | 8.63e-03 | 5.34e-03 | 32 |
hsa0301512 | Prostate | BPH | mRNA surveillance pathway | 32/1718 | 97/8465 | 2.20e-03 | 8.63e-03 | 5.34e-03 | 32 |
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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 |
SMG1 | SNV | Missense_Mutation | rs749957363 | c.4444N>A | p.Glu1482Lys | p.E1482K | Q96Q15 | protein_coding | tolerated(0.46) | probably_damaging(0.972) | TCGA-AA-A00N-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | PD |
SMG1 | SNV | Missense_Mutation | rs755332588 | c.2441N>A | p.Arg814Gln | p.R814Q | Q96Q15 | protein_coding | tolerated(0.08) | possibly_damaging(0.885) | TCGA-AA-A00N-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | PD |
SMG1 | SNV | Missense_Mutation | rs368592756 | c.9041N>A | p.Arg3014Gln | p.R3014Q | Q96Q15 | protein_coding | tolerated(0.05) | benign(0.005) | TCGA-AA-A010-01 | Colorectum | colon adenocarcinoma | Female | <65 | I/II | Chemotherapy | folinic | CR |
SMG1 | SNV | Missense_Mutation | rs753628889 | c.4463N>A | p.Thr1488Asn | p.T1488N | Q96Q15 | protein_coding | deleterious(0.02) | benign(0.101) | TCGA-AA-A01I-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD |
SMG1 | SNV | Missense_Mutation | rs762928481 | c.232N>A | p.Ala78Thr | p.A78T | Q96Q15 | protein_coding | tolerated_low_confidence(0.62) | benign(0) | TCGA-AA-A01R-01 | Colorectum | colon adenocarcinoma | Male | <65 | III/IV | Chemotherapy | 5-fluorouracil | PD |
SMG1 | SNV | Missense_Mutation | novel | c.5843N>G | p.Val1948Gly | p.V1948G | Q96Q15 | protein_coding | deleterious(0) | probably_damaging(0.987) | TCGA-AA-A02R-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
SMG1 | SNV | Missense_Mutation | c.8395C>T | p.Arg2799Trp | p.R2799W | Q96Q15 | protein_coding | deleterious(0) | probably_damaging(0.985) | TCGA-AD-A5EJ-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
SMG1 | SNV | Missense_Mutation | c.5077A>T | p.Thr1693Ser | p.T1693S | Q96Q15 | protein_coding | tolerated_low_confidence(0.39) | benign(0.011) | TCGA-AZ-6598-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
SMG1 | SNV | Missense_Mutation | novel | c.7082A>C | p.Lys2361Thr | p.K2361T | Q96Q15 | protein_coding | deleterious(0) | probably_damaging(0.997) | TCGA-CA-6717-01 | Colorectum | colon adenocarcinoma | Male | <65 | I/II | Chemotherapy | oxaliplatin | CR |
SMG1 | SNV | Missense_Mutation | novel | c.3922G>A | p.Glu1308Lys | p.E1308K | Q96Q15 | protein_coding | tolerated(0.06) | benign(0.012) | TCGA-CA-6717-01 | Colorectum | colon adenocarcinoma | Male | <65 | I/II | Chemotherapy | oxaliplatin | CR |
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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 |
23049 | SMG1 | DRUGGABLE GENOME, ENZYME, KINASE, SERINE THREONINE KINASE, PHOSPHATIDYLINOSITOL 3 KINASE, DNA REPAIR | ApoC-III | |||
23049 | SMG1 | DRUGGABLE GENOME, ENZYME, KINASE, SERINE THREONINE KINASE, PHOSPHATIDYLINOSITOL 3 KINASE, DNA REPAIR | inhibitor | 252827484 | ||
23049 | SMG1 | DRUGGABLE GENOME, ENZYME, KINASE, SERINE THREONINE KINASE, PHOSPHATIDYLINOSITOL 3 KINASE, DNA REPAIR | Bisquaternary salt |
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