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Gene: ATM |
Gene summary for ATM |
Gene summary. |
Gene information | Species | Human | Gene symbol | ATM | Gene ID | 472 |
Gene name | ATM serine/threonine kinase | |
Gene Alias | AT1 | |
Cytomap | 11q22.3 | |
Gene Type | protein-coding | GO ID | GO:0000003 | UniProtAcc | A0A024R3C7 |
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Malignant transformation analysis |
Identification of the aberrant gene expression in precancerous and cancerous lesions by comparing the gene expression of stem-like cells in diseased tissues with normal stem cells |
Malignant transformation involving gene list. |
Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
472 | ATM | LZE4T | Human | Esophagus | ESCC | 1.38e-07 | 2.10e-01 | 0.0811 |
472 | ATM | LZE7T | Human | Esophagus | ESCC | 2.19e-02 | 2.21e-01 | 0.0667 |
472 | ATM | LZE8T | Human | Esophagus | ESCC | 8.32e-03 | 7.62e-02 | 0.067 |
472 | ATM | LZE20T | Human | Esophagus | ESCC | 9.55e-07 | 1.07e-01 | 0.0662 |
472 | ATM | LZE24T | Human | Esophagus | ESCC | 1.17e-10 | 3.24e-01 | 0.0596 |
472 | ATM | P2T-E | Human | Esophagus | ESCC | 6.27e-08 | 1.19e-01 | 0.1177 |
472 | ATM | P4T-E | Human | Esophagus | ESCC | 3.04e-21 | 4.01e-01 | 0.1323 |
472 | ATM | P5T-E | Human | Esophagus | ESCC | 3.77e-17 | 1.17e-01 | 0.1327 |
472 | ATM | P8T-E | Human | Esophagus | ESCC | 5.06e-06 | 7.77e-02 | 0.0889 |
472 | ATM | P9T-E | Human | Esophagus | ESCC | 4.13e-10 | 2.04e-01 | 0.1131 |
472 | ATM | P10T-E | Human | Esophagus | ESCC | 7.83e-18 | 3.32e-01 | 0.116 |
472 | ATM | P11T-E | Human | Esophagus | ESCC | 3.57e-10 | 2.56e-01 | 0.1426 |
472 | ATM | P12T-E | Human | Esophagus | ESCC | 5.02e-22 | 3.49e-01 | 0.1122 |
472 | ATM | P15T-E | Human | Esophagus | ESCC | 1.06e-08 | 1.83e-01 | 0.1149 |
472 | ATM | P16T-E | Human | Esophagus | ESCC | 1.63e-17 | 2.52e-01 | 0.1153 |
472 | ATM | P20T-E | Human | Esophagus | ESCC | 3.15e-06 | 3.48e-02 | 0.1124 |
472 | ATM | P21T-E | Human | Esophagus | ESCC | 1.40e-14 | 2.08e-01 | 0.1617 |
472 | ATM | P22T-E | Human | Esophagus | ESCC | 2.28e-11 | 1.62e-01 | 0.1236 |
472 | ATM | P23T-E | Human | Esophagus | ESCC | 2.30e-08 | 1.63e-01 | 0.108 |
472 | ATM | P24T-E | Human | Esophagus | ESCC | 9.86e-03 | 7.31e-02 | 0.1287 |
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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. |
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Malignant transformation related pathway analysis |
Find out the enriched GO biological processes and KEGG pathways involved in transition from healthy to precancer to cancer |
Figure of enriched GO biological processes. |
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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Enriched GO biological processes. |
GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:0031346 | Colorectum | AD | positive regulation of cell projection organization | 104/3918 | 353/18723 | 8.26e-05 | 1.30e-03 | 104 |
GO:0120034 | Colorectum | AD | positive regulation of plasma membrane bounded cell projection assembly | 33/3918 | 105/18723 | 7.49e-03 | 4.55e-02 | 33 |
GO:0120032 | Colorectum | AD | regulation of plasma membrane bounded cell projection assembly | 53/3918 | 186/18723 | 8.51e-03 | 4.97e-02 | 53 |
GO:00313462 | Colorectum | MSS | positive regulation of cell projection organization | 96/3467 | 353/18723 | 3.44e-05 | 6.70e-04 | 96 |
GO:00423981 | Colorectum | MSS | cellular modified amino acid biosynthetic process | 20/3467 | 46/18723 | 8.26e-05 | 1.35e-03 | 20 |
GO:00065751 | Colorectum | MSS | cellular modified amino acid metabolic process | 55/3467 | 188/18723 | 2.16e-04 | 3.01e-03 | 55 |
GO:01200322 | Colorectum | MSS | regulation of plasma membrane bounded cell projection assembly | 51/3467 | 186/18723 | 1.78e-03 | 1.58e-02 | 51 |
GO:00604911 | Colorectum | MSS | regulation of cell projection assembly | 51/3467 | 188/18723 | 2.28e-03 | 1.87e-02 | 51 |
GO:00030121 | Colorectum | MSS | muscle system process | 105/3467 | 452/18723 | 6.39e-03 | 4.26e-02 | 105 |
GO:0046394 | Colorectum | MSS | carboxylic acid biosynthetic process | 76/3467 | 314/18723 | 6.71e-03 | 4.38e-02 | 76 |
GO:01200341 | Colorectum | MSS | positive regulation of plasma membrane bounded cell projection assembly | 30/3467 | 105/18723 | 7.74e-03 | 4.84e-02 | 30 |
GO:0016053 | Colorectum | MSS | organic acid biosynthetic process | 76/3467 | 316/18723 | 7.88e-03 | 4.84e-02 | 76 |
GO:00423982 | Colorectum | MSI-H | cellular modified amino acid biosynthetic process | 10/1319 | 46/18723 | 1.14e-03 | 1.90e-02 | 10 |
GO:00065752 | Colorectum | MSI-H | cellular modified amino acid metabolic process | 25/1319 | 188/18723 | 1.61e-03 | 2.39e-02 | 25 |
GO:00463941 | Colorectum | MSI-H | carboxylic acid biosynthetic process | 36/1319 | 314/18723 | 2.68e-03 | 3.48e-02 | 36 |
GO:00160531 | Colorectum | MSI-H | organic acid biosynthetic process | 36/1319 | 316/18723 | 2.98e-03 | 3.78e-02 | 36 |
GO:0022613111 | Esophagus | ESCC | ribonucleoprotein complex biogenesis | 365/8552 | 463/18723 | 1.74e-49 | 1.11e-45 | 365 |
GO:0097193111 | Esophagus | ESCC | intrinsic apoptotic signaling pathway | 222/8552 | 288/18723 | 5.87e-28 | 2.02e-25 | 222 |
GO:0006403110 | Esophagus | ESCC | RNA localization | 166/8552 | 201/18723 | 1.95e-27 | 6.18e-25 | 166 |
GO:001657015 | Esophagus | ESCC | histone modification | 323/8552 | 463/18723 | 2.61e-26 | 7.88e-24 | 323 |
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Enriched KEGG pathways. |
Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
hsa0411023 | Esophagus | ESCC | Cell cycle | 126/4205 | 157/8465 | 1.34e-15 | 5.60e-14 | 2.87e-14 | 126 |
hsa05166211 | Esophagus | ESCC | Human T-cell leukemia virus 1 infection | 164/4205 | 222/8465 | 8.13e-14 | 2.09e-12 | 1.07e-12 | 164 |
hsa05131211 | Esophagus | ESCC | Shigellosis | 176/4205 | 247/8465 | 2.27e-12 | 4.01e-11 | 2.05e-11 | 176 |
hsa0411524 | Esophagus | ESCC | p53 signaling pathway | 65/4205 | 74/8465 | 3.88e-12 | 6.50e-11 | 3.33e-11 | 65 |
hsa0421829 | Esophagus | ESCC | Cellular senescence | 119/4205 | 156/8465 | 5.89e-12 | 9.40e-11 | 4.81e-11 | 119 |
hsa0421027 | Esophagus | ESCC | Apoptosis | 102/4205 | 136/8465 | 1.05e-09 | 1.21e-08 | 6.21e-09 | 102 |
hsa05170210 | Esophagus | ESCC | Human immunodeficiency virus 1 infection | 147/4205 | 212/8465 | 3.37e-09 | 3.53e-08 | 1.81e-08 | 147 |
hsa0516510 | Esophagus | ESCC | Human papillomavirus infection | 215/4205 | 331/8465 | 7.86e-09 | 7.12e-08 | 3.65e-08 | 215 |
hsa015247 | Esophagus | ESCC | Platinum drug resistance | 56/4205 | 73/8465 | 1.85e-06 | 1.13e-05 | 5.78e-06 | 56 |
hsa040689 | Esophagus | ESCC | FoxO signaling pathway | 89/4205 | 131/8465 | 1.56e-05 | 7.98e-05 | 4.09e-05 | 89 |
hsa040645 | Esophagus | ESCC | NF-kappa B signaling pathway | 67/4205 | 104/8465 | 1.62e-03 | 4.89e-03 | 2.50e-03 | 67 |
hsa052028 | Esophagus | ESCC | Transcriptional misregulation in cancer | 116/4205 | 193/8465 | 2.08e-03 | 5.95e-03 | 3.05e-03 | 116 |
hsa0411033 | Esophagus | ESCC | Cell cycle | 126/4205 | 157/8465 | 1.34e-15 | 5.60e-14 | 2.87e-14 | 126 |
hsa05166310 | Esophagus | ESCC | Human T-cell leukemia virus 1 infection | 164/4205 | 222/8465 | 8.13e-14 | 2.09e-12 | 1.07e-12 | 164 |
hsa05131310 | Esophagus | ESCC | Shigellosis | 176/4205 | 247/8465 | 2.27e-12 | 4.01e-11 | 2.05e-11 | 176 |
hsa0411534 | Esophagus | ESCC | p53 signaling pathway | 65/4205 | 74/8465 | 3.88e-12 | 6.50e-11 | 3.33e-11 | 65 |
hsa0421838 | Esophagus | ESCC | Cellular senescence | 119/4205 | 156/8465 | 5.89e-12 | 9.40e-11 | 4.81e-11 | 119 |
hsa0421037 | Esophagus | ESCC | Apoptosis | 102/4205 | 136/8465 | 1.05e-09 | 1.21e-08 | 6.21e-09 | 102 |
hsa0517038 | Esophagus | ESCC | Human immunodeficiency virus 1 infection | 147/4205 | 212/8465 | 3.37e-09 | 3.53e-08 | 1.81e-08 | 147 |
hsa0516515 | Esophagus | ESCC | Human papillomavirus infection | 215/4205 | 331/8465 | 7.86e-09 | 7.12e-08 | 3.65e-08 | 215 |
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Cell-cell communication analysis |
Identification of potential cell-cell interactions between two cell types and their ligand-receptor pairs for different disease states |
Ligand | Receptor | LRpair | Pathway | Tissue | Disease Stage |
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Single-cell gene regulatory network inference analysis |
Find out the significant the regulons (TFs) and the target genes of each regulon across cell types for different disease states |
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 |
Annotation of somatic variants for genes involved in malignant transformation |
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 |
ATM | SNV | Missense_Mutation | rs876659505 | c.8524N>T | p.Pro2842Ser | p.P2842S | Q13315 | protein_coding | deleterious(0) | probably_damaging(0.986) | TCGA-AX-A2HC-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | paclitaxel | PD |
ATM | SNV | Missense_Mutation | novel | c.2057N>C | p.Leu686Pro | p.L686P | Q13315 | protein_coding | deleterious(0) | probably_damaging(0.978) | TCGA-AX-A2HJ-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
ATM | SNV | Missense_Mutation | novel | c.4925N>T | p.Gly1642Val | p.G1642V | Q13315 | protein_coding | tolerated(0.09) | benign(0.037) | TCGA-AX-A3G9-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | carboplatin | SD |
ATM | SNV | Missense_Mutation | c.7089N>T | p.Lys2363Asn | p.K2363N | Q13315 | protein_coding | deleterious(0) | possibly_damaging(0.734) | TCGA-B5-A0JR-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
ATM | SNV | Missense_Mutation | c.8435C>A | p.Ser2812Tyr | p.S2812Y | Q13315 | protein_coding | tolerated(0.18) | possibly_damaging(0.735) | TCGA-B5-A0JY-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | doxorubicin | SD | |
ATM | SNV | Missense_Mutation | rs145355104 | c.659C>T | p.Ala220Val | p.A220V | Q13315 | protein_coding | tolerated(0.45) | benign(0.049) | TCGA-B5-A1MR-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | III/IV | Unknown | Unknown | SD |
ATM | SNV | Missense_Mutation | c.3602T>G | p.Phe1201Cys | p.F1201C | Q13315 | protein_coding | deleterious(0) | probably_damaging(0.927) | TCGA-B5-A1MR-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | III/IV | Unknown | Unknown | SD | |
ATM | SNV | Missense_Mutation | novel | c.3290N>C | p.Phe1097Ser | p.F1097S | Q13315 | protein_coding | deleterious(0) | probably_damaging(0.988) | TCGA-B5-A1MX-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Hormone Therapy | megace | SD |
ATM | SNV | Missense_Mutation | c.3993N>T | p.Gln1331His | p.Q1331H | Q13315 | protein_coding | deleterious(0) | benign(0.012) | TCGA-B5-A1MX-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Hormone Therapy | megace | SD | |
ATM | SNV | Missense_Mutation | novel | c.7075N>T | p.Thr2359Ser | p.T2359S | Q13315 | protein_coding | tolerated(0.63) | benign(0.005) | TCGA-B5-A3FC-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
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Related drugs of malignant transformation related genes |
Identification of chemicals and drugs interact with genes involved in malignant transfromation |
(DGIdb 4.0) |
Entrez ID | Symbol | Category | Interaction Types | Drug Claim Name | Drug Name | PMIDs |
472 | ATM | CLINICALLY ACTIONABLE, SERINE THREONINE KINASE, KINASE, ENZYME, DRUGGABLE GENOME, PHOSPHATIDYLINOSITOL 3 KINASE, TUMOR SUPPRESSOR, DRUG RESISTANCE | metformin | METFORMIN | 28834135 | |
472 | ATM | CLINICALLY ACTIONABLE, SERINE THREONINE KINASE, KINASE, ENZYME, DRUGGABLE GENOME, PHOSPHATIDYLINOSITOL 3 KINASE, TUMOR SUPPRESSOR, DRUG RESISTANCE | OLAPARIB | OLAPARIB | 20739657,26510020,32343890,28363999,20124459,24841718 | |
472 | ATM | CLINICALLY ACTIONABLE, SERINE THREONINE KINASE, KINASE, ENZYME, DRUGGABLE GENOME, PHOSPHATIDYLINOSITOL 3 KINASE, TUMOR SUPPRESSOR, DRUG RESISTANCE | PHLORETIN | PHLORETIN | ||
472 | ATM | CLINICALLY ACTIONABLE, SERINE THREONINE KINASE, KINASE, ENZYME, DRUGGABLE GENOME, PHOSPHATIDYLINOSITOL 3 KINASE, TUMOR SUPPRESSOR, DRUG RESISTANCE | Fludarabine | FLUDARABINE | 20739657 | |
472 | ATM | CLINICALLY ACTIONABLE, SERINE THREONINE KINASE, KINASE, ENZYME, DRUGGABLE GENOME, PHOSPHATIDYLINOSITOL 3 KINASE, TUMOR SUPPRESSOR, DRUG RESISTANCE | DOXORUBICIN | DOXORUBICIN | 23585524 | |
472 | ATM | CLINICALLY ACTIONABLE, SERINE THREONINE KINASE, KINASE, ENZYME, DRUGGABLE GENOME, PHOSPHATIDYLINOSITOL 3 KINASE, TUMOR SUPPRESSOR, DRUG RESISTANCE | Bendamustine | BENDAMUSTINE | 20739657 | |
472 | ATM | CLINICALLY ACTIONABLE, SERINE THREONINE KINASE, KINASE, ENZYME, DRUGGABLE GENOME, PHOSPHATIDYLINOSITOL 3 KINASE, TUMOR SUPPRESSOR, DRUG RESISTANCE | NAFTIFINE HYDROCHLORIDE | NAFTIFINE HYDROCHLORIDE | ||
472 | ATM | CLINICALLY ACTIONABLE, SERINE THREONINE KINASE, KINASE, ENZYME, DRUGGABLE GENOME, PHOSPHATIDYLINOSITOL 3 KINASE, TUMOR SUPPRESSOR, DRUG RESISTANCE | TCMDC-125528 | CHEMBL375673 | ||
472 | ATM | CLINICALLY ACTIONABLE, SERINE THREONINE KINASE, KINASE, ENZYME, DRUGGABLE GENOME, PHOSPHATIDYLINOSITOL 3 KINASE, TUMOR SUPPRESSOR, DRUG RESISTANCE | AZD1390 | |||
472 | ATM | CLINICALLY ACTIONABLE, SERINE THREONINE KINASE, KINASE, ENZYME, DRUGGABLE GENOME, PHOSPHATIDYLINOSITOL 3 KINASE, TUMOR SUPPRESSOR, DRUG RESISTANCE | doxorubicin | DOXORUBICIN |
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