Details for: ATM
Associated with
Cells (max top 100)
(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)
- Cell Name: central nervous system macrophage (CL0000878)
Fold Change: 3.13
Marker Score: 1556 - Cell Name: mature microglial cell (CL0002629)
Fold Change: 3
Marker Score: 1084 - Cell Name: anterior lens cell (CL0002223)
Fold Change: 2.86
Marker Score: 3849 - Cell Name: CD8-positive, alpha-beta cytokine secreting effector T cell (CL0000908)
Fold Change: 2.74
Marker Score: 1183 - Cell Name: lens epithelial cell (CL0002224)
Fold Change: 2.69
Marker Score: 3255 - Cell Name: ciliary muscle cell (CL1000443)
Fold Change: 2.52
Marker Score: 5532 - Cell Name: DN3 thymocyte (CL0000807)
Fold Change: 2.47
Marker Score: 1236 - Cell Name: pigmented epithelial cell (CL0000529)
Fold Change: 2.4
Marker Score: 10059 - Cell Name: CD8-positive, alpha-beta memory T cell, CD45RO-positive (CL0001203)
Fold Change: 2.32
Marker Score: 6519 - Cell Name: mature gamma-delta T cell (CL0000800)
Fold Change: 2.26
Marker Score: 7124 - Cell Name: mature alpha-beta T cell (CL0000791)
Fold Change: 2.25
Marker Score: 119155 - Cell Name: CD56-positive, CD161-positive immature natural killer cell, human (CL0002338)
Fold Change: 2.2
Marker Score: 724 - Cell Name: microglial cell (CL0000129)
Fold Change: 2.09
Marker Score: 3801 - Cell Name: corneal endothelial cell (CL0000132)
Fold Change: 2.04
Marker Score: 1190 - Cell Name: cardiac neuron (CL0010022)
Fold Change: 2
Marker Score: 2491 - Cell Name: kidney loop of Henle thin descending limb epithelial cell (CL1001111)
Fold Change: 1.98
Marker Score: 2134 - Cell Name: vascular leptomeningeal cell (CL4023051)
Fold Change: 1.97
Marker Score: 2273 - Cell Name: secondary lens fiber (CL0002225)
Fold Change: 1.95
Marker Score: 1141 - Cell Name: central memory CD8-positive, alpha-beta T cell (CL0000907)
Fold Change: 1.95
Marker Score: 4751 - Cell Name: kidney interstitial fibroblast (CL1000692)
Fold Change: 1.92
Marker Score: 3698 - Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
Fold Change: 1.92
Marker Score: 70888 - Cell Name: sst GABAergic cortical interneuron (CL4023017)
Fold Change: 1.91
Marker Score: 37913 - Cell Name: regular atrial cardiac myocyte (CL0002129)
Fold Change: 1.89
Marker Score: 6732 - Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
Fold Change: 1.89
Marker Score: 552 - Cell Name: IgG-negative class switched memory B cell (CL0002117)
Fold Change: 1.87
Marker Score: 1841 - Cell Name: IgG memory B cell (CL0000979)
Fold Change: 1.83
Marker Score: 1105 - Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
Fold Change: 1.82
Marker Score: 27231 - Cell Name: vip GABAergic cortical interneuron (CL4023016)
Fold Change: 1.8
Marker Score: 68522 - Cell Name: OFF retinal ganglion cell (CL4023033)
Fold Change: 1.8
Marker Score: 755 - Cell Name: centroblast (CL0009112)
Fold Change: 1.79
Marker Score: 884 - Cell Name: alpha-beta T cell (CL0000789)
Fold Change: 1.78
Marker Score: 1351 - Cell Name: neuron (CL0000540)
Fold Change: 1.78
Marker Score: 7251.5 - Cell Name: naive thymus-derived CD8-positive, alpha-beta T cell (CL0000900)
Fold Change: 1.78
Marker Score: 3178.5 - Cell Name: DN1 thymic pro-T cell (CL0000894)
Fold Change: 1.78
Marker Score: 551 - Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
Fold Change: 1.77
Marker Score: 7352 - Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
Fold Change: 1.77
Marker Score: 16669 - Cell Name: memory B cell (CL0000787)
Fold Change: 1.76
Marker Score: 1335 - Cell Name: transitional stage B cell (CL0000818)
Fold Change: 1.76
Marker Score: 623 - Cell Name: oligodendrocyte (CL0000128)
Fold Change: 1.76
Marker Score: 4203 - Cell Name: effector CD4-positive, alpha-beta T cell (CL0001044)
Fold Change: 1.74
Marker Score: 1632 - Cell Name: naive T cell (CL0000898)
Fold Change: 1.74
Marker Score: 1123 - Cell Name: caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
Fold Change: 1.74
Marker Score: 6709 - Cell Name: blood cell (CL0000081)
Fold Change: 1.72
Marker Score: 19971 - Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
Fold Change: 1.71
Marker Score: 104980 - Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
Fold Change: 1.69
Marker Score: 16079 - Cell Name: CD16-negative, CD56-bright natural killer cell, human (CL0000938)
Fold Change: 1.69
Marker Score: 1382 - Cell Name: astrocyte of the cerebral cortex (CL0002605)
Fold Change: 1.68
Marker Score: 35941 - Cell Name: sncg GABAergic cortical interneuron (CL4023015)
Fold Change: 1.66
Marker Score: 12758 - Cell Name: memory regulatory T cell (CL0002678)
Fold Change: 1.66
Marker Score: 580 - Cell Name: cerebellar granule cell precursor (CL0002362)
Fold Change: 1.65
Marker Score: 924 - Cell Name: L6b glutamatergic cortical neuron (CL4023038)
Fold Change: 1.63
Marker Score: 14030 - Cell Name: NKp46-positive innate lymphoid cell, human (CL0001076)
Fold Change: 1.61
Marker Score: 4710 - Cell Name: double negative T regulatory cell (CL0011024)
Fold Change: 1.59
Marker Score: 1538 - Cell Name: naive B cell (CL0000788)
Fold Change: 1.58
Marker Score: 1415 - Cell Name: effector memory CD8-positive, alpha-beta T cell, terminally differentiated (CL0001062)
Fold Change: 1.56
Marker Score: 2294 - Cell Name: naive thymus-derived CD4-positive, alpha-beta T cell (CL0000895)
Fold Change: 1.55
Marker Score: 2666 - Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
Fold Change: 1.55
Marker Score: 489 - Cell Name: regular ventricular cardiac myocyte (CL0002131)
Fold Change: 1.54
Marker Score: 34510 - Cell Name: CD8-alpha alpha positive, gamma-delta intraepithelial T cell (CL0000802)
Fold Change: 1.54
Marker Score: 502 - Cell Name: dopaminergic neuron (CL0000700)
Fold Change: 1.54
Marker Score: 15937 - Cell Name: naive regulatory T cell (CL0002677)
Fold Change: 1.54
Marker Score: 468 - Cell Name: effector memory CD8-positive, alpha-beta T cell (CL0000913)
Fold Change: 1.53
Marker Score: 943 - Cell Name: podocyte (CL0000653)
Fold Change: 1.53
Marker Score: 566 - Cell Name: small pre-B-II cell (CL0000954)
Fold Change: 1.53
Marker Score: 1836.5 - Cell Name: lymphocyte (CL0000542)
Fold Change: 1.52
Marker Score: 767 - Cell Name: A2 amacrine cell (CL0004219)
Fold Change: 1.52
Marker Score: 481 - Cell Name: cortical cell of adrenal gland (CL0002097)
Fold Change: 1.48
Marker Score: 26278 - Cell Name: melanocyte (CL0000148)
Fold Change: 1.48
Marker Score: 599 - Cell Name: tonsil germinal center B cell (CL2000006)
Fold Change: 1.47
Marker Score: 4376 - Cell Name: double negative thymocyte (CL0002489)
Fold Change: 1.46
Marker Score: 2021 - Cell Name: astrocyte (CL0000127)
Fold Change: 1.46
Marker Score: 1268 - Cell Name: CD4-positive helper T cell (CL0000492)
Fold Change: 1.46
Marker Score: 1588 - Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
Fold Change: 1.45
Marker Score: 2240 - Cell Name: lens fiber cell (CL0011004)
Fold Change: 1.45
Marker Score: 458 - Cell Name: renal interstitial pericyte (CL1001318)
Fold Change: 1.45
Marker Score: 1380 - Cell Name: class switched memory B cell (CL0000972)
Fold Change: 1.45
Marker Score: 1360 - Cell Name: mature astrocyte (CL0002627)
Fold Change: 1.44
Marker Score: 950 - Cell Name: acinar cell of salivary gland (CL0002623)
Fold Change: 1.44
Marker Score: 3285 - Cell Name: fibroblast of breast (CL4006000)
Fold Change: 1.44
Marker Score: 822 - Cell Name: microfold cell of epithelium of small intestine (CL1000353)
Fold Change: 1.44
Marker Score: 343 - Cell Name: inhibitory interneuron (CL0000498)
Fold Change: 1.43
Marker Score: 6631 - Cell Name: B-1 B cell (CL0000819)
Fold Change: 1.43
Marker Score: 2490 - Cell Name: pro-B cell (CL0000826)
Fold Change: 1.43
Marker Score: 1378 - Cell Name: choroid plexus epithelial cell (CL0000706)
Fold Change: 1.42
Marker Score: 1308.5 - Cell Name: Unknown (CL0000548)
Fold Change: 1.42
Marker Score: 1035 - Cell Name: ON retinal ganglion cell (CL4023032)
Fold Change: 1.42
Marker Score: 388 - Cell Name: late pro-B cell (CL0002048)
Fold Change: 1.42
Marker Score: 1671.5 - Cell Name: oligodendrocyte precursor cell (CL0002453)
Fold Change: 1.4
Marker Score: 1731 - Cell Name: epithelial cell of uterus (CL0002149)
Fold Change: 1.4
Marker Score: 320 - Cell Name: progenitor cell of endocrine pancreas (CL0002351)
Fold Change: 1.39
Marker Score: 303 - Cell Name: central memory CD4-positive, alpha-beta T cell (CL0000904)
Fold Change: 1.39
Marker Score: 1497 - Cell Name: natural killer cell (CL0000623)
Fold Change: 1.38
Marker Score: 1794 - Cell Name: double-positive, alpha-beta thymocyte (CL0000809)
Fold Change: 1.37
Marker Score: 2689 - Cell Name: pigmented ciliary epithelial cell (CL0002303)
Fold Change: 1.37
Marker Score: 465 - Cell Name: Kupffer cell (CL0000091)
Fold Change: 1.36
Marker Score: 1364 - Cell Name: epicardial adipocyte (CL1000309)
Fold Change: 1.36
Marker Score: 661 - Cell Name: gamma-delta T cell (CL0000798)
Fold Change: 1.35
Marker Score: 911 - Cell Name: mucosal invariant T cell (CL0000940)
Fold Change: 1.35
Marker Score: 1204 - Cell Name: endothelial cell of hepatic sinusoid (CL1000398)
Fold Change: 1.35
Marker Score: 295.5 - Cell Name: Schwann cell (CL0002573)
Fold Change: 1.35
Marker Score: 468
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Other Information
Genular Protein ID: 3847084435
Symbol: ATM_HUMAN
Name: Serine-protein kinase ATM
UniProtKB Accession Codes:
Database IDs:
Citations:
PubMed ID: 8589678
Title: The complete sequence of the coding region of the ATM gene reveals similarity to cell cycle regulators in different species.
PubMed ID: 8589678
PubMed ID: 8665503
Title: The ATM gene and susceptibility to breast cancer: analysis of 38 breast tumors reveals no evidence for mutation.
PubMed ID: 8665503
PubMed ID: 9199932
Title: Ataxia-telangiectasia locus: sequence analysis of 184 kb of human genomic DNA containing the entire ATM gene.
PubMed ID: 9199932
DOI: 10.1101/gr.7.6.592
PubMed ID: 16554811
Title: Human chromosome 11 DNA sequence and analysis including novel gene identification.
PubMed ID: 16554811
DOI: 10.1038/nature04632
PubMed ID: 8789452
Title: Mutations revealed by sequencing the 5' half of the gene for ataxia telangiectasia.
PubMed ID: 8789452
DOI: 10.1093/hmg/5.1.145
PubMed ID: 9108147
Title: Ataxia-telangiectasia: structural diversity of untranslated sequences suggests complex post-transcriptional regulation of ATM gene expression.
PubMed ID: 9108147
PubMed ID: 7792600
Title: A single ataxia telangiectasia gene with a product similar to PI-3 kinase.
PubMed ID: 7792600
PubMed ID: 15489334
Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
PubMed ID: 15489334
DOI: 10.1101/gr.2596504
PubMed ID: 8521392
Title: Genomic organization of the ATM locus involved in ataxia-telangiectasia.
PubMed ID: 8521392
PubMed ID: 8969240
Title: The product of the ATM gene is a 370-kDa nuclear phosphoprotein.
PubMed ID: 8969240
PubMed ID: 9050866
Title: The ataxia-telangiectasia gene product, a constitutively expressed nuclear protein that is not up-regulated following genome damage.
PubMed ID: 9050866
PubMed ID: 9150358
Title: Cellular localisation of the ataxia-telangiectasia (ATM) gene product and discrimination between mutated and normal forms.
PubMed ID: 9150358
PubMed ID: 8988033
Title: ATM gene product phosphorylates I kappa B-alpha.
PubMed ID: 8988033
PubMed ID: 9168117
Title: Interaction between ATM protein and c-Abl in response to DNA damage.
PubMed ID: 9168117
DOI: 10.1038/387520a0
PubMed ID: 9766667
Title: Inhibition of phosphoinositide 3-kinase related kinases by the radiosensitizing agent wortmannin.
PubMed ID: 9766667
PubMed ID: 9843217
Title: ATM associates with and phosphorylates p53: mapping the region of interaction.
PubMed ID: 9843217
DOI: 10.1038/3882
PubMed ID: 9707615
Title: ATM binds to beta-adaptin in cytoplasmic vesicles.
PubMed ID: 9707615
PubMed ID: 9733514
Title: Enhanced phosphorylation of p53 by ATM in response to DNA damage.
PubMed ID: 9733514
PubMed ID: 9733515
Title: Activation of the ATM kinase by ionizing radiation and phosphorylation of p53.
PubMed ID: 9733515
PubMed ID: 10500142
Title: Purification and DNA binding properties of the ataxia-telangiectasia gene product ATM.
PubMed ID: 10500142
PubMed ID: 10550055
Title: Requirement of ATM-dependent phosphorylation of brca1 in the DNA damage response to double-strand breaks.
PubMed ID: 10550055
PubMed ID: 10783165
Title: BASC, a super complex of BRCA1-associated proteins involved in the recognition and repair of aberrant DNA structures.
PubMed ID: 10783165
PubMed ID: 10766245
Title: ATM phosphorylates p95/nbs1 in an S-phase checkpoint pathway.
PubMed ID: 10766245
DOI: 10.1038/35007091
PubMed ID: 10839545
Title: ATM phosphorylation of Nijmegen breakage syndrome protein is required in a DNA damage response.
PubMed ID: 10839545
DOI: 10.1038/35013089
PubMed ID: 10910365
Title: Functional link of BRCA1 and ataxia telangiectasia gene product in DNA damage response.
PubMed ID: 10910365
DOI: 10.1038/35018134
PubMed ID: 10802669
Title: ATM-dependent phosphorylation of nibrin in response to radiation exposure.
PubMed ID: 10802669
DOI: 10.1038/75508
PubMed ID: 10973490
Title: Ataxia telangiectasia-mutated phosphorylates Chk2 in vivo and in vitro.
PubMed ID: 10973490
PubMed ID: 11375976
Title: Telomeric protein Pin2/TRF1 as an important ATM target in response to double strand DNA breaks.
PubMed ID: 11375976
PubMed ID: 11418864
Title: ATR/ATM-mediated phosphorylation of human Rad17 is required for genotoxic stress responses.
PubMed ID: 11418864
DOI: 10.1038/35082110
PubMed ID: 12086603
Title: Convergence of the Fanconi anemia and ataxia telangiectasia signaling pathways.
PubMed ID: 12086603
PubMed ID: 12409306
Title: Identification of a novel protein kinase mediating Akt survival signaling to the ATM protein.
PubMed ID: 12409306
PubMed ID: 12556884
Title: DNA damage activates ATM through intermolecular autophosphorylation and dimer dissociation.
PubMed ID: 12556884
DOI: 10.1038/nature01368
PubMed ID: 14871926
Title: Requirement of protein phosphatase 5 in DNA-damage-induced ATM activation.
PubMed ID: 14871926
DOI: 10.1101/gad.1176004
PubMed ID: 15456891
Title: Artemis is a phosphorylation target of ATM and ATR and is involved in the G2/M DNA damage checkpoint response.
PubMed ID: 15456891
PubMed ID: 15448695
Title: A new effector pathway links ATM kinase with the DNA damage response.
PubMed ID: 15448695
DOI: 10.1038/ncb1170
PubMed ID: 15680327
Title: The haploinsufficient tumor suppressor p18 upregulates p53 via interactions with ATM/ATR.
PubMed ID: 15680327
PubMed ID: 15916964
Title: ATM-dependent phosphorylation of ATF2 is required for the DNA damage response.
PubMed ID: 15916964
PubMed ID: 15923642
Title: Involvement of human MOF in ATM function.
PubMed ID: 15923642
PubMed ID: 16086026
Title: Regulated degradation of replication-dependent histone mRNAs requires both ATR and Upf1.
PubMed ID: 16086026
DOI: 10.1038/nsmb972
PubMed ID: 16141325
Title: A role for the Tip60 histone acetyltransferase in the acetylation and activation of ATM.
PubMed ID: 16141325
PubMed ID: 16858402
Title: Involvement of novel autophosphorylation sites in ATM activation.
PubMed ID: 16858402
PubMed ID: 17525732
Title: ATMIN defines an NBS1-independent pathway of ATM signalling.
PubMed ID: 17525732
PubMed ID: 17923702
Title: DNA damage-induced acetylation of lysine 3016 of ATM activates ATM kinase activity.
PubMed ID: 17923702
DOI: 10.1128/mcb.01382-07
PubMed ID: 17525332
Title: ATM and ATR substrate analysis reveals extensive protein networks responsive to DNA damage.
PubMed ID: 17525332
PubMed ID: 18283122
Title: Cep164 is a mediator protein required for the maintenance of genomic stability through modulation of MDC1, RPA, and CHK1.
PubMed ID: 18283122
DOI: 10.1101/gad.1627708
PubMed ID: 18691976
Title: Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle.
PubMed ID: 18691976
PubMed ID: 18449195
Title: Single-stranded DNA-binding protein hSSB1 is critical for genomic stability.
PubMed ID: 18449195
DOI: 10.1038/nature06883
PubMed ID: 18710941
Title: A role for DEAD box 1 at DNA double-strand breaks.
PubMed ID: 18710941
DOI: 10.1128/mcb.01053-08
PubMed ID: 19369195
Title: Large-scale proteomics analysis of the human kinome.
PubMed ID: 19369195
PubMed ID: 19965871
Title: ATM augments nuclear stabilization of DYRK2 by inhibiting MDM2 in the apoptotic response to DNA damage.
PubMed ID: 19965871
PubMed ID: 20810650
Title: A genetic screen identifies the Triple T complex required for DNA damage signaling and ATM and ATR stability.
PubMed ID: 20810650
DOI: 10.1101/gad.1934210
PubMed ID: 20801936
Title: Tel2 structure and function in the Hsp90-dependent maturation of mTOR and ATR complexes.
PubMed ID: 20801936
DOI: 10.1101/gad.1956410
PubMed ID: 20427287
Title: Tti1 and Tel2 are critical factors in mammalian target of rapamycin complex assembly.
PubMed ID: 20427287
PubMed ID: 21269460
Title: Initial characterization of the human central proteome.
PubMed ID: 21269460
PubMed ID: 21144835
Title: Protein phosphatase 5 is necessary for ATR-mediated DNA repair.
PubMed ID: 21144835
PubMed ID: 22977523
Title: Functional interaction of BRCA1/ATM-associated BAAT1 with the DNA-PK catalytic subunit.
PubMed ID: 22977523
DOI: 10.3892/etm.2011.232
PubMed ID: 22223895
Title: Comparative large-scale characterisation of plant vs. mammal proteins reveals similar and idiosyncratic N-alpha acetylation features.
PubMed ID: 22223895
PubMed ID: 23186163
Title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.
PubMed ID: 23186163
DOI: 10.1021/pr300630k
PubMed ID: 24275569
Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
PubMed ID: 24275569
PubMed ID: 26344566
Title: ATM functions at the peroxisome to induce pexophagy in response to ROS.
PubMed ID: 26344566
DOI: 10.1038/ncb3230
PubMed ID: 26774286
Title: FBXW7 facilitates nonhomologous end-joining via K63-linked polyubiquitylation of XRCC4.
PubMed ID: 26774286
PubMed ID: 29203878
Title: ATM and CDK2 control chromatin remodeler CSB to inhibit RIF1 in DSB repair pathway choice.
PubMed ID: 29203878
PubMed ID: 30612738
Title: UBQLN4 represses homologous recombination and is overexpressed in aggressive tumors.
PubMed ID: 30612738
PubMed ID: 30886146
Title: UFL1 promotes histone H4 ufmylation and ATM activation.
PubMed ID: 30886146
PubMed ID: 30944854
Title: SIRT7-mediated ATM deacetylation is essential for its deactivation and DNA damage repair.
PubMed ID: 30944854
PubMed ID: 28508083
Title: Structures of closed and open conformations of dimeric human ATM.
PubMed ID: 28508083
PubMed ID: 8755918
Title: Mutations associated with variant phenotypes in ataxia-telangiectasia.
PubMed ID: 8755918
PubMed ID: 8808599
Title: A high frequency of distinct ATM gene mutations in ataxia-telangiectasia.
PubMed ID: 8808599
PubMed ID: 8797579
Title: ATM mutations in cancer families.
PubMed ID: 8797579
PubMed ID: 9043869
Title: Exon-scanning mutation analysis of the ATM gene in patients with ataxia-telangiectasia.
PubMed ID: 9043869
DOI: 10.1159/000472231
PubMed ID: 8698354
Title: New mutations in the ataxia telangiectasia gene.
PubMed ID: 8698354
PubMed ID: 8845835
Title: Predominance of null mutations in ataxia-telangiectasia.
PubMed ID: 8845835
DOI: 10.1093/hmg/5.4.433
PubMed ID: 9288106
Title: Clustering of missense mutations in the ataxia-telangiectasia gene in a sporadic T-cell leukaemia.
PubMed ID: 9288106
DOI: 10.1038/ng0997-96
PubMed ID: 9334731
Title: Biallelic mutations in the ATM gene in T-prolymphocytic leukemia.
PubMed ID: 9334731
DOI: 10.1038/nm1097-1155
PubMed ID: 9443866
Title: Ataxia-telangiectasia: identification and detection of founder-effect mutations in the ATM gene in ethnic populations.
PubMed ID: 9443866
DOI: 10.1086/301673
PubMed ID: 9463314
Title: ATM mutations and phenotypes in ataxia-telangiectasia families in the British Isles: expression of mutant ATM and the risk of leukemia, lymphoma, and breast cancer.
PubMed ID: 9463314
DOI: 10.1086/301706
PubMed ID: 9497252
Title: Genotype-phenotype relationships in ataxia-telangiectasia and variants.
PubMed ID: 9497252
DOI: 10.1086/301755
PubMed ID: 9450874
Title: Ataxia-telangiectasia without immunodeficiency: novel point mutations within and adjacent to the phosphatidylinositol 3-kinase-like domain.
PubMed ID: 9450874
DOI: 10.1002/(sici)1096-8628(19980113)75:2<141::aid-ajmg4>3.3.co;2-8
PubMed ID: 9573030
Title: Inactivation of the ATM gene in T-cell prolymphocytic leukemias.
PubMed ID: 9573030
PubMed ID: 9872980
Title: Strategies for mutational analysis of the large multiexon ATM gene using high-density oligonucleotide arrays.
PubMed ID: 9872980
DOI: 10.1101/gr.8.12.1245
PubMed ID: 9521587
Title: A double missense mutation in the ATM gene of a Dutch family with ataxia telangiectasia.
PubMed ID: 9521587
PubMed ID: 9711876
Title: ATM mutations in patients with ataxia telangiectasia screened by a hierarchical strategy.
PubMed ID: 9711876
DOI: 10.1002/(sici)1098-1004(1998)12:3<186::aid-humu6>3.0.co;2-f
PubMed ID: 9792409
Title: ATM germline mutations in classical ataxia-telangiectasia patients in the Dutch population.
PubMed ID: 9792409
DOI: 10.1002/(sici)1098-1004(1998)12:5<330::aid-humu6>3.0.co;2-h
PubMed ID: 9792410
Title: Ataxia-telangiectasia in the Japanese population: identification of R1917X, W2491R, R2909G, IVS33+2T-->A, and 7883del5, the latter two being relatively common mutations.
PubMed ID: 9792410
DOI: 10.1002/(sici)1098-1004(1998)12:5<338::aid-humu7>3.0.co;2-9
PubMed ID: 9488043
Title: ATM is usually rearranged in T-cell prolymphocytic leukaemia.
PubMed ID: 9488043
PubMed ID: 10397742
Title: Somatic ATM mutations indicate a pathogenic role of ATM in B-cell chronic lymphocytic leukemia.
PubMed ID: 10397742
PubMed ID: 9892178
Title: ATM mutations in B-cell chronic lymphocytic leukemia.
PubMed ID: 9892178
PubMed ID: 10234507
Title: Rapid and efficient ATM mutation detection by fluorescent chemical cleavage of mismatch: identification of four novel mutations.
PubMed ID: 10234507
PubMed ID: 10534763
Title: Identification of germline missense mutations and rare allelic variants in the ATM gene in early-onset breast cancer.
PubMed ID: 10534763
DOI: 10.1002/(sici)1098-2264(199912)26:4<286::aid-gcc2>3.3.co;2-o
PubMed ID: 9887333
Title: Characterization of ATM gene mutations in 66 ataxia telangiectasia families.
PubMed ID: 9887333
DOI: 10.1093/hmg/8.1.69
PubMed ID: 10425038
Title: New mutations, polymorphisms, and rare variants in the ATM gene detected by a novel SSCP strategy.
PubMed ID: 10425038
DOI: 10.1002/(sici)1098-1004(1999)14:2<156::aid-humu7>3.0.co;2-e
PubMed ID: 10023947
Title: Inactivation of ataxia telangiectasia mutated gene in B-cell chronic lymphocytic leukaemia.
PubMed ID: 10023947
PubMed ID: 10217116
Title: Missense mutations at ATM gene and cancer risk.
PubMed ID: 10217116
PubMed ID: 10817650
Title: Mutations at the ataxia-telangiectasia locus and clinical phenotypes of A-T patients.
PubMed ID: 10817650
DOI: 10.1002/(sici)1096-8628(20000529)92:3<170::aid-ajmg3>3.0.co;2-#
PubMed ID: 10873394
Title: Ataxia-telangiectasia: phenotype/genotype studies of ATM protein expression, mutations, and radiosensitivity.
PubMed ID: 10873394
PubMed ID: 10706620
Title: Mantle cell lymphoma is characterized by inactivation of the ATM gene.
PubMed ID: 10706620
PubMed ID: 11897822
Title: ATM mutations in Finnish breast cancer patients.
PubMed ID: 11897822
DOI: 10.1136/jmg.39.3.192
PubMed ID: 17344846
Title: Patterns of somatic mutation in human cancer genomes.
PubMed ID: 17344846
DOI: 10.1038/nature05610
PubMed ID: 18384426
Title: ATM germline mutations in Spanish early-onset breast cancer patients negative for BRCA1/BRCA2 mutations.
PubMed ID: 18384426
PubMed ID: 19431188
Title: Modeling ATM mutant proteins from missense changes confirms retained kinase activity.
PubMed ID: 19431188
DOI: 10.1002/humu.21034
Sequence Information:
- Length: 3056
- Mass: 350687
- Checksum: C0B4866E1E3199E2
- Sequence:
MSLVLNDLLI CCRQLEHDRA TERKKEVEKF KRLIRDPETI KHLDRHSDSK QGKYLNWDAV FRFLQKYIQK ETECLRIAKP NVSASTQASR QKKMQEISSL VKYFIKCANR RAPRLKCQEL LNYIMDTVKD SSNGAIYGAD CSNILLKDIL SVRKYWCEIS QQQWLELFSV YFRLYLKPSQ DVHRVLVARI IHAVTKGCCS QTDGLNSKFL DFFSKAIQCA RQEKSSSGLN HILAALTIFL KTLAVNFRIR VCELGDEILP TLLYIWTQHR LNDSLKEVII ELFQLQIYIH HPKGAKTQEK GAYESTKWRS ILYNLYDLLV NEISHIGSRG KYSSGFRNIA VKENLIELMA DICHQVFNED TRSLEISQSY TTTQRESSDY SVPCKRKKIE LGWEVIKDHL QKSQNDFDLV PWLQIATQLI SKYPASLPNC ELSPLLMILS QLLPQQRHGE RTPYVLRCLT EVALCQDKRS NLESSQKSDL LKLWNKIWCI TFRGISSEQI QAENFGLLGA IIQGSLVEVD REFWKLFTGS ACRPSCPAVC CLTLALTTSI VPGTVKMGIE QNMCEVNRSF SLKESIMKWL LFYQLEGDLE NSTEVPPILH SNFPHLVLEK ILVSLTMKNC KAAMNFFQSV PECEHHQKDK EELSFSEVEE LFLQTTFDKM DFLTIVRECG IEKHQSSIGF SVHQNLKESL DRCLLGLSEQ LLNNYSSEIT NSETLVRCSR LLVGVLGCYC YMGVIAEEEA YKSELFQKAK SLMQCAGESI TLFKNKTNEE FRIGSLRNMM QLCTRCLSNC TKKSPNKIAS GFFLRLLTSK LMNDIADICK SLASFIKKPF DRGEVESMED DTNGNLMEVE DQSSMNLFND YPDSSVSDAN EPGESQSTIG AINPLAEEYL SKQDLLFLDM LKFLCLCVTT AQTNTVSFRA ADIRRKLLML IDSSTLEPTK SLHLHMYLML LKELPGEEYP LPMEDVLELL KPLSNVCSLY RRDQDVCKTI LNHVLHVVKN LGQSNMDSEN TRDAQGQFLT VIGAFWHLTK ERKYIFSVRM ALVNCLKTLL EADPYSKWAI LNVMGKDFPV NEVFTQFLAD NHHQVRMLAA ESINRLFQDT KGDSSRLLKA LPLKLQQTAF ENAYLKAQEG MREMSHSAEN PETLDEIYNR KSVLLTLIAV VLSCSPICEK QALFALCKSV KENGLEPHLV KKVLEKVSET FGYRRLEDFM ASHLDYLVLE WLNLQDTEYN LSSFPFILLN YTNIEDFYRS CYKVLIPHLV IRSHFDEVKS IANQIQEDWK SLLTDCFPKI LVNILPYFAY EGTRDSGMAQ QRETATKVYD MLKSENLLGK QIDHLFISNL PEIVVELLMT LHEPANSSAS QSTDLCDFSG DLDPAPNPPH FPSHVIKATF AYISNCHKTK LKSILEILSK SPDSYQKILL AICEQAAETN NVYKKHRILK IYHLFVSLLL KDIKSGLGGA WAFVLRDVIY TLIHYINQRP SCIMDVSLRS FSLCCDLLSQ VCQTAVTYCK DALENHLHVI VGTLIPLVYE QVEVQKQVLD LLKYLVIDNK DNENLYITIK LLDPFPDHVV FKDLRITQQK IKYSRGPFSL LEEINHFLSV SVYDALPLTR LEGLKDLRRQ LELHKDQMVD IMRASQDNPQ DGIMVKLVVN LLQLSKMAIN HTGEKEVLEA VGSCLGEVGP IDFSTIAIQH SKDASYTKAL KLFEDKELQW TFIMLTYLNN TLVEDCVKVR SAAVTCLKNI LATKTGHSFW EIYKMTTDPM LAYLQPFRTS RKKFLEVPRF DKENPFEGLD DINLWIPLSE NHDIWIKTLT CAFLDSGGTK CEILQLLKPM CEVKTDFCQT VLPYLIHDIL LQDTNESWRN LLSTHVQGFF TSCLRHFSQT SRSTTPANLD SESEHFFRCC LDKKSQRTML AVVDYMRRQK RPSSGTIFND AFWLDLNYLE VAKVAQSCAA HFTALLYAEI YADKKSMDDQ EKRSLAFEEG SQSTTISSLS EKSKEETGIS LQDLLLEIYR SIGEPDSLYG CGGGKMLQPI TRLRTYEHEA MWGKALVTYD LETAIPSSTR QAGIIQALQN LGLCHILSVY LKGLDYENKD WCPELEELHY QAAWRNMQWD HCTSVSKEVE GTSYHESLYN ALQSLRDREF STFYESLKYA RVKEVEEMCK RSLESVYSLY PTLSRLQAIG ELESIGELFS RSVTHRQLSE VYIKWQKHSQ LLKDSDFSFQ EPIMALRTVI LEILMEKEMD NSQRECIKDI LTKHLVELSI LARTFKNTQL PERAIFQIKQ YNSVSCGVSE WQLEEAQVFW AKKEQSLALS ILKQMIKKLD ASCAANNPSL KLTYTECLRV CGNWLAETCL ENPAVIMQTY LEKAVEVAGN YDGESSDELR NGKMKAFLSL ARFSDTQYQR IENYMKSSEF ENKQALLKRA KEEVGLLREH KIQTNRYTVK VQRELELDEL ALRALKEDRK RFLCKAVENY INCLLSGEEH DMWVFRLCSL WLENSGVSEV NGMMKRDGMK IPTYKFLPLM YQLAARMGTK MMGGLGFHEV LNNLISRISM DHPHHTLFII LALANANRDE FLTKPEVARR SRITKNVPKQ SSQLDEDRTE AANRIICTIR SRRPQMVRSV EALCDAYIIL ANLDATQWKT QRKGINIPAD QPITKLKNLE DVVVPTMEIK VDHTGEYGNL VTIQSFKAEF RLAGGVNLPK IIDCVGSDGK ERRQLVKGRD DLRQDAVMQQ VFQMCNTLLQ RNTETRKRKL TICTYKVVPL SQRSGVLEWC TGTVPIGEFL VNNEDGAHKR YRPNDFSAFQ CQKKMMEVQK KSFEEKYEVF MDVCQNFQPV FRYFCMEKFL DPAIWFEKRL AYTRSVATSS IVGYILGLGD RHVQNILINE QSAELVHIDL GVAFEQGKIL PTPETVPFRL TRDIVDGMGI TGVEGVFRRC CEKTMEVMRN SQETLLTIVE VLLYDPLFDW TMNPLKALYL QQRPEDETEL HPTLNADDQE CKRNLSDIDQ SFNKVAERVL MRLQEKLKGV EEGTVLSVGG QVNLLIQQAI DPKNLSRLFP GWKAWV
Database document:
This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. For the full schema, download it here.