Summary ?
GeneID472
SymbolATM
SynonymsAT1|ATA|ATC|ATD|ATDC|ATE|TEL1|TELO1
DescriptionATM serine/threonine kinase
ReferenceMIM:607585|HGNC:HGNC:795|Ensembl:ENSG00000149311|HPRD:06347|Vega:OTTHUMG00000166480
Gene typeprotein-coding
Map location11q22-q23
Pascal p-value0.768
Sherlock p-value0.543
Fetal beta1.15
SupportINTRACELLULAR SIGNAL TRANSDUCTION
Ascano FMRP targets

Gene in Data Sources
Gene set name Method of gene setDescriptionInfo
CV:PGCnpGenome-wide Association StudyGWAS
PMID:cooccurHigh-throughput literature-searchSystematic search in PubMed for genes co-occurring with SCZ keywords. A total of 3027 genes were included.
GSMA_IGenome scan meta-analysisPsr: 0.006 
LiteratureHigh-throughput literature-searchCo-occurance with Schizophrenia keywords: schizophrenia,schizophrenic,schizophrenics,schizophreniasClick to show details
GO_AnnotationMapping neuro-related keywords to Gene Ontology annotationsHits with neuro-related keywords: 2 
NetworkShortest path distance of core genes in the Human protein-protein interaction networkContribution to shortest path in PPI network: 0.0817 

Section I. Genetics and epigenetics annotation


Section II. Transcriptome annotation

General gene expression (GTEx)

Not available

Gene expression during devlopment (BrainCloud)

Footnote:
A total of 269 time points ploted, with n=38 fetal samples (x=1:38). Each triangle represents one time point.

Gene expression of temporal and spatial changes (BrainSpan)

Footnote:
SC: sub-cortical regions; SM: sensory-motor regions; FC: frontal cortex; and TP: temporal-parietal cortex
ST1: fetal (13 - 26 postconception weeks), ST2: early infancy to late childhood (4 months to 11 years), and ST3: adolescence to adulthood (13 - 23 years)
The bar shown representes the lower 25% and upper 25% of the expression distribution.

Top co-expressed genes in brain regions

Top 10 positively co-expressed genes
GenePearson's Correlation Spearman's Correlation
ROBLD30.880.85
CCDC560.850.81
MRPL360.850.78
PRELID10.830.77
PSMB30.820.80
RNF1810.820.83
MRPL200.810.73
GABARAP0.810.77
PSMB60.810.84
RNF70.810.77
Top 10 negatively co-expressed genes
GenePearson's Correlation Spearman's Correlation
MT-ATP8-0.42-0.46
AF347015.18-0.40-0.44
COBLL1-0.40-0.40
PTRF-0.40-0.42
MYH9-0.39-0.37
AF347015.26-0.39-0.43
EPAS1-0.39-0.41
GIMAP8-0.38-0.40
AF347015.2-0.38-0.40
FLT1-0.37-0.42

Section III. Gene Ontology annotation

Molecular functionGO termEvidenceNeuro keywordsPubMed ID
GO:0003677DNA bindingIEA-
GO:0004674protein serine/threonine kinase activityIDA11375976 
GO:0016740transferase activityIEA-
GO:00163031-phosphatidylinositol-3-kinase activityIMP11375976 
GO:0047485protein N-terminus bindingIDA11375976 
Biological processGO termEvidenceNeuro keywordsPubMed ID
GO:0007420brain developmentIEABrain (GO term level: 7)-
GO:0051402neuron apoptosisIEAneuron, axon, dendrite (GO term level: 7)-
GO:0000077DNA damage checkpointIEA-
GO:0001756somitogenesisIEA-
GO:0007131reciprocal meiotic recombinationTAS7792600 
GO:0006468protein amino acid phosphorylationIEA-
GO:0008219cell deathIEA-
GO:0007292female gamete generationIEA-
GO:0006281DNA repairIEA-
GO:0006281DNA repairTAS9733515 
GO:0007165signal transductionTAS7792600 
GO:0008630DNA damage response, signal transduction resulting in induction of apoptosisIEA-
GO:0007094mitotic cell cycle spindle assembly checkpointIMP11943150 
GO:0007507heart developmentIEA-
GO:0010212response to ionizing radiationIDA11375976 
GO:0045786negative regulation of cell cycleIEA-
Cellular componentGO termEvidenceNeuro keywordsPubMed ID
GO:0005819spindleIEA-
GO:0005634nucleusIEA-
GO:0005654nucleoplasmEXP10550055 |10959836 |11331603 
|12556884 |12607003 
GO:0031410cytoplasmic vesicleIEA-

Section IV. Protein-protein interaction annotation

InteractorsAliases BOfficial full name BExperimentalSourcePubMed ID
ABL1ABL | JTK7 | bcr/abl | c-ABL | p150 | v-ablc-abl oncogene 1, receptor tyrosine kinase-HPRD,BioGRID9168117 
AP1B1ADTB1 | AP105A | BAM22 | CLAPB2adaptor-related protein complex 1, beta 1 subunitProtein-peptideBioGRID10608806 
AP2A2ADTAB | CLAPA2 | HIP9 | HYPJadaptor-related protein complex 2, alpha 2 subunitProtein-peptideBioGRID10608806 
AP2B1ADTB2 | AP105B | AP2-BETA | CLAPB1 | DKFZp781K0743adaptor-related protein complex 2, beta 1 subunit-HPRD9707615 
AP3B2DKFZp686D17136 | NAPTBadaptor-related protein complex 3, beta 2 subunit-HPRD9707615 
ATF2CRE-BP1 | CREB2 | HB16 | MGC111558 | TREB7activating transcription factor 2An unspecified isoform of ATM interacts with and phosphorylates ATF2.BIND15916964 
ATMAT1 | ATA | ATC | ATD | ATDC | ATE | DKFZp781A0353 | MGC74674 | TEL1 | TELO1ataxia telangiectasia mutatedProtein-peptideBioGRID10608806 
ATMAT1 | ATA | ATC | ATD | ATDC | ATE | DKFZp781A0353 | MGC74674 | TEL1 | TELO1ataxia telangiectasia mutatedATM interacts with itself to form a dimer.BIND15790808 
ATRFRP1 | MEC1 | SCKL | SCKL1ataxia telangiectasia and Rad3 relatedProtein-peptideBioGRID10608806 
BLMBS | MGC126616 | MGC131618 | MGC131620 | RECQ2 | RECQL2 | RECQL3Bloom syndromeAffinity Capture-Western
Co-purification
Reconstituted Complex
BioGRID10783165 |12034743 
BRCA1BRCAI | BRCC1 | IRIS | PSCP | RNF53breast cancer 1, early onsetAffinity Capture-Western
Co-purification
Protein-peptide
Reconstituted Complex
BioGRID10550055 |10608806 
|10783165 |10866324 
|11016625 |11114888 
|11278964 
BRCA1BRCAI | BRCC1 | IRIS | PSCP | RNF53breast cancer 1, early onset-HPRD2001833 
BRCA2BRCC2 | FACD | FAD | FAD1 | FANCB | FANCD | FANCD1breast cancer 2, early onsetReconstituted ComplexBioGRID15199141 
CATMGC138422 | MGC138424catalase-HPRD10567403 
CHEK1CHK1CHK1 checkpoint homolog (S. pombe)Protein-peptideBioGRID10608806 
CHEK2CDS1 | CHK2 | HuCds1 | LFS2 | PP1425 | RAD53CHK2 checkpoint homolog (S. pombe)ATM phosphorylates Chk2 at threonine 68.BIND15790808 
CHEK2CDS1 | CHK2 | HuCds1 | LFS2 | PP1425 | RAD53CHK2 checkpoint homolog (S. pombe)ATM phosphorylates Chk2 at threonine 68.BIND15064416 
CREB1CREB | MGC9284cAMP responsive element binding protein 1Affinity Capture-WesternBioGRID15073328 
E4F1E4F | MGC99614E4F transcription factor 1Protein-peptideBioGRID10608806 
EEF1E1AIMP3 | P18eukaryotic translation elongation factor 1 epsilon 1p18 interacts with ATM.BIND15680327 
EIF4EBP14E-BP1 | 4EBP1 | BP-1 | MGC4316 | PHAS-Ieukaryotic translation initiation factor 4E binding protein 1Protein-peptideBioGRID10608806 
FANCD2DKFZp762A223 | FA-D2 | FA4 | FACD | FAD | FAD2 | FANCD | FLJ23826Fanconi anemia, complementation group D2Affinity Capture-Western
Reconstituted Complex
Two-hybrid
BioGRID12086603 |14499622 
H2AFXH2A.X | H2A/X | H2AXH2A histone family, member XATM phosphorylates the carboxy terminus of H2AX.BIND15064416 
HINT1FLJ30414 | FLJ32340 | HINT | PKCI-1 | PRKCNH1histidine triad nucleotide binding protein 1-HPRD7644499 
LIG4-ligase IV, DNA, ATP-dependentProtein-peptideBioGRID10608806 
MCM2BM28 | CCNL1 | CDCL1 | D3S3194 | KIAA0030 | MGC10606 | MITOTIN | cdc19minichromosome maintenance complex component 2Biochemical ActivityBioGRID15210935 
MDC1DKFZp781A0122 | KIAA0170 | MGC166888 | NFBD1mediator of DNA damage checkpoint 1-HPRD12607005 
MDC1DKFZp781A0122 | KIAA0170 | MGC166888 | NFBD1mediator of DNA damage checkpoint 1Affinity Capture-WesternBioGRID14519663 
MLH1COCA2 | FCC2 | HNPCC | HNPCC2 | MGC5172 | hMLH1mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli)Co-purificationBioGRID10783165 
MRE11AATLD | HNGS1 | MRE11 | MRE11BMRE11 meiotic recombination 11 homolog A (S. cerevisiae)ATM interacts with MRE11A (Mre11).BIND15758953 
MRE11AATLD | HNGS1 | MRE11 | MRE11BMRE11 meiotic recombination 11 homolog A (S. cerevisiae)Co-purification
Protein-peptide
BioGRID10608806 |10783165 
MSH2COCA1 | FCC1 | HNPCC | HNPCC1 | LCFS2mutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli)Co-purificationBioGRID10783165 
MSH6GTBP | HNPCC5 | HSAPmutS homolog 6 (E. coli)Co-purificationBioGRID10783165 
NBNAT-V1 | AT-V2 | ATV | FLJ10155 | MGC87362 | NBS | NBS1 | P95nibrinCo-purification
Protein-peptide
BioGRID10608806 |10783165 
NBNAT-V1 | AT-V2 | ATV | FLJ10155 | MGC87362 | NBS | NBS1 | P95nibrinNBS1 interacts with ATM.BIND15758953 
PEX5FLJ50634 | FLJ50721 | FLJ51948 | PTS1-BP | PTS1R | PXR1peroxisomal biogenesis factor 5-HPRD,BioGRID10567403 
PRKDCDNA-PKcs | DNAPK | DNPK1 | HYRC | HYRC1 | XRCC7 | p350protein kinase, DNA-activated, catalytic polypeptide-HPRD,BioGRID10464290 
PTSFLJ97081 | PTPS6-pyruvoyltetrahydropterin synthaseProtein-peptideBioGRID10608806 
RAD17CCYC | FLJ41520 | HRAD17 | R24L | RAD17SP | RAD24RAD17 homolog (S. pombe)-HPRD,BioGRID11418864 
RAD50RAD50-2 | hRad50RAD50 homolog (S. cerevisiae)Co-purificationBioGRID10783165 
RAD51BRCC5 | HRAD51 | HsRad51 | HsT16930 | RAD51A | RECARAD51 homolog (RecA homolog, E. coli) (S. cerevisiae)Affinity Capture-WesternBioGRID10212258 
RBBP8CTIP | RIMretinoblastoma binding protein 8Affinity Capture-Western
Protein-peptide
Reconstituted Complex
BioGRID10608806 |10910365 
RFC1A1 | MGC51786 | MHCBFB | PO-GA | RECC1 | RFC | RFC140replication factor C (activator 1) 1, 145kDaCo-purificationBioGRID10783165 
RHEBMGC111559 | RHEB2Ras homolog enriched in brainAffinity Capture-Western
Reconstituted Complex
BioGRID15854902 
RHEBMGC111559 | RHEB2Ras homolog enriched in brainATM interacts with Rheb.BIND15854902 
SMC1ACDLS2 | DKFZp686L19178 | DXS423E | KIAA0178 | MGC138332 | SB1.8 | SMC1 | SMC1L1 | SMC1alpha | SMCBstructural maintenance of chromosomes 1AAffinity Capture-Western
Reconstituted Complex
BioGRID11877376 
TERF1FLJ41416 | PIN2 | TRBF1 | TRF | TRF1 | hTRF1-AS | t-TRF1telomeric repeat binding factor (NIMA-interacting) 1-HPRD,BioGRID11375976 
TIPARPDDF1 | DKFZp434J214 | DKFZp686N0351 | DKFZp686P1838 | FLJ40466 | PARP-1 | PARP-7 | PARP7TCDD-inducible poly(ADP-ribose) polymerase-HPRD11238919 
TP53FLJ92943 | LFS1 | TRP53 | p53tumor protein p53-HPRD,BioGRID9843217 
TP53FLJ92943 | LFS1 | TRP53 | p53tumor protein p53ATM phosphorylates p53 at serine 15.BIND15064416 
TP53FLJ92943 | LFS1 | TRP53 | p53tumor protein p53An unspecified isoform of ATM interacts with and phosphorylates p53. This interaction was modeled on a demonstrated interaction between human ATM and p53 from an unspecified species.BIND15916964 
TP53FLJ92943 | LFS1 | TRP53 | p53tumor protein p53ATM phosphorylates p53 at Ser15.BIND15175154 
TP53FLJ92943 | LFS1 | TRP53 | p53tumor protein p53ATM phosphorylates p53 at serine 15.BIND15790808 
TP53BP153BP1 | FLJ41424 | MGC138366 | p202tumor protein p53 binding protein 1Biochemical Activity
Reconstituted Complex
BioGRID12447390 |12697768 
UPF1FLJ43809 | FLJ46894 | HUPF1 | KIAA0221 | NORF1 | RENT1 | pNORF1UPF1 regulator of nonsense transcripts homolog (yeast)ATM phosphorylates hUpf1.BIND15175154 
WRNDKFZp686C2056 | RECQ3 | RECQL2 | RECQL3Werner syndromeProtein-peptideBioGRID10608806 
XRCC5FLJ39089 | KARP-1 | KARP1 | KU80 | KUB2 | Ku86 | NFIVX-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining)XRCC5 (Ku80) interacts with ATM.BIND15758953 


Section V. Pathway annotation

Pathway namePathway size# SZGR 2.0 genes in pathwayInfo
KEGG CELL CYCLE 12884All SZGR 2.0 genes in this pathway
KEGG P53 SIGNALING PATHWAY 6945All SZGR 2.0 genes in this pathway
KEGG APOPTOSIS 8862All SZGR 2.0 genes in this pathway
BIOCARTA CHEMICAL PATHWAY 2215All SZGR 2.0 genes in this pathway
BIOCARTA ATM PATHWAY 2016All SZGR 2.0 genes in this pathway
BIOCARTA G1 PATHWAY 2821All SZGR 2.0 genes in this pathway
BIOCARTA G2 PATHWAY 2420All SZGR 2.0 genes in this pathway
BIOCARTA P53HYPOXIA PATHWAY 2321All SZGR 2.0 genes in this pathway
BIOCARTA P53 PATHWAY 1613All SZGR 2.0 genes in this pathway
BIOCARTA RB PATHWAY 1311All SZGR 2.0 genes in this pathway
BIOCARTA ATRBRCA PATHWAY 2112All SZGR 2.0 genes in this pathway
PID FANCONI PATHWAY 4728All SZGR 2.0 genes in this pathway
PID P38 MKK3 6PATHWAY 2621All SZGR 2.0 genes in this pathway
PID NFKAPPAB CANONICAL PATHWAY 2320All SZGR 2.0 genes in this pathway
PID E2F PATHWAY 7448All SZGR 2.0 genes in this pathway
PID ATM PATHWAY 3425All SZGR 2.0 genes in this pathway
PID TELOMERASE PATHWAY 6848All SZGR 2.0 genes in this pathway
PID DELTA NP63 PATHWAY 4734All SZGR 2.0 genes in this pathway
PID BARD1 PATHWAY 2919All SZGR 2.0 genes in this pathway
PID P53 REGULATION PATHWAY 5950All SZGR 2.0 genes in this pathway
REACTOME MEIOSIS 11681All SZGR 2.0 genes in this pathway
REACTOME CELL CYCLE 421253All SZGR 2.0 genes in this pathway
REACTOME P53 INDEPENDENT G1 S DNA DAMAGE CHECKPOINT 5131All SZGR 2.0 genes in this pathway
REACTOME CELL CYCLE CHECKPOINTS 12470All SZGR 2.0 genes in this pathway
REACTOME HOMOLOGOUS RECOMBINATION REPAIR OF REPLICATION INDEPENDENT DOUBLE STRAND BREAKS 1711All SZGR 2.0 genes in this pathway
REACTOME P53 DEPENDENT G1 DNA DAMAGE RESPONSE 5735All SZGR 2.0 genes in this pathway
REACTOME FANCONI ANEMIA PATHWAY 2511All SZGR 2.0 genes in this pathway
REACTOME DOUBLE STRAND BREAK REPAIR 2414All SZGR 2.0 genes in this pathway
REACTOME AUTODEGRADATION OF THE E3 UBIQUITIN LIGASE COP1 5130All SZGR 2.0 genes in this pathway
REACTOME DNA REPAIR 11259All SZGR 2.0 genes in this pathway
REACTOME MEIOTIC RECOMBINATION 8662All SZGR 2.0 genes in this pathway
REACTOME G2 M CHECKPOINTS 4523All SZGR 2.0 genes in this pathway
REACTOME G2 M DNA DAMAGE CHECKPOINT 128All SZGR 2.0 genes in this pathway
WINTER HYPOXIA DN 5230All SZGR 2.0 genes in this pathway
ONKEN UVEAL MELANOMA UP 783507All SZGR 2.0 genes in this pathway
ZHONG RESPONSE TO AZACITIDINE AND TSA DN 7038All SZGR 2.0 genes in this pathway
DEURIG T CELL PROLYMPHOCYTIC LEUKEMIA DN 320184All SZGR 2.0 genes in this pathway
CHARAFE BREAST CANCER LUMINAL VS MESENCHYMAL DN 460312All SZGR 2.0 genes in this pathway
BASAKI YBX1 TARGETS DN 384230All SZGR 2.0 genes in this pathway
WIKMAN ASBESTOS LUNG CANCER DN 2813All SZGR 2.0 genes in this pathway
MULLIGHAN NPM1 MUTATED SIGNATURE 1 UP 276165All SZGR 2.0 genes in this pathway
MULLIGHAN NPM1 SIGNATURE 3 UP 341197All SZGR 2.0 genes in this pathway
KOKKINAKIS METHIONINE DEPRIVATION 48HR DN 6439All SZGR 2.0 genes in this pathway
KOKKINAKIS METHIONINE DEPRIVATION 96HR DN 7550All SZGR 2.0 genes in this pathway
GRAESSMANN APOPTOSIS BY DOXORUBICIN DN 17811082All SZGR 2.0 genes in this pathway
HAMAI APOPTOSIS VIA TRAIL UP 584356All SZGR 2.0 genes in this pathway
OUELLET CULTURED OVARIAN CANCER INVASIVE VS LMP DN 3520All SZGR 2.0 genes in this pathway
RAMJAUN APOPTOSIS BY TGFB1 VIA SMAD4 DN 86All SZGR 2.0 genes in this pathway
LASTOWSKA NEUROBLASTOMA COPY NUMBER DN 800473All SZGR 2.0 genes in this pathway
MYLLYKANGAS AMPLIFICATION HOT SPOT 23 2413All SZGR 2.0 genes in this pathway
SCHEIDEREIT IKK INTERACTING PROTEINS 5845All SZGR 2.0 genes in this pathway
SCHRAMM INHBA TARGETS DN 2412All SZGR 2.0 genes in this pathway
CALVET IRINOTECAN SENSITIVE VS RESISTANT UP 55All SZGR 2.0 genes in this pathway
PUJANA BREAST CANCER LIT INT NETWORK 10173All SZGR 2.0 genes in this pathway
PUJANA XPRSS INT NETWORK 168103All SZGR 2.0 genes in this pathway
PUJANA BRCA1 PCC NETWORK 16521023All SZGR 2.0 genes in this pathway
PUJANA ATM PCC NETWORK 1442892All SZGR 2.0 genes in this pathway
PUJANA CHEK2 PCC NETWORK 779480All SZGR 2.0 genes in this pathway
PUJANA BRCA CENTERED NETWORK 11772All SZGR 2.0 genes in this pathway
BENPORATH MYC MAX TARGETS 775494All SZGR 2.0 genes in this pathway
KAUFFMANN DNA REPAIR GENES 230137All SZGR 2.0 genes in this pathway
DING LUNG CANCER MUTATED SIGNIFICANTLY 2622All SZGR 2.0 genes in this pathway
ASTON MAJOR DEPRESSIVE DISORDER DN 160110All SZGR 2.0 genes in this pathway
CHEOK RESPONSE TO HD MTX UP 2313All SZGR 2.0 genes in this pathway
HASLINGER B CLL WITH 11Q23 DELETION 2318All SZGR 2.0 genes in this pathway
HADDAD B LYMPHOCYTE PROGENITOR 293193All SZGR 2.0 genes in this pathway
KUMAR TARGETS OF MLL AF9 FUSION 405264All SZGR 2.0 genes in this pathway
KAAB HEART ATRIUM VS VENTRICLE UP 249170All SZGR 2.0 genes in this pathway
MARSON BOUND BY FOXP3 STIMULATED 1022619All SZGR 2.0 genes in this pathway
MARSON BOUND BY FOXP3 UNSTIMULATED 1229713All SZGR 2.0 genes in this pathway
MARTINEZ RB1 TARGETS UP 673430All SZGR 2.0 genes in this pathway
MARTINEZ TP53 TARGETS DN 593372All SZGR 2.0 genes in this pathway
MARTINEZ RB1 AND TP53 TARGETS DN 591366All SZGR 2.0 genes in this pathway
MARZEC IL2 SIGNALING DN 3624All SZGR 2.0 genes in this pathway
MCCABE BOUND BY HOXC6 469239All SZGR 2.0 genes in this pathway
GALI TP53 TARGETS APOPTOTIC UP 87All SZGR 2.0 genes in this pathway
MATZUK MEIOTIC AND DNA REPAIR 3926All SZGR 2.0 genes in this pathway
MATZUK SPERMATOCYTE 7255All SZGR 2.0 genes in this pathway
GRESHOCK CANCER COPY NUMBER UP 323240All SZGR 2.0 genes in this pathway
LEE EARLY T LYMPHOCYTE DN 5736All SZGR 2.0 genes in this pathway
ZHANG TLX TARGETS 36HR DN 185116All SZGR 2.0 genes in this pathway
ZHANG TLX TARGETS 60HR DN 277166All SZGR 2.0 genes in this pathway
ZHANG TLX TARGETS DN 8950All SZGR 2.0 genes in this pathway
HAN SATB1 TARGETS DN 442275All SZGR 2.0 genes in this pathway
COLINA TARGETS OF 4EBP1 AND 4EBP2 356214All SZGR 2.0 genes in this pathway
JISON SICKLE CELL DISEASE DN 18197All SZGR 2.0 genes in this pathway
YAGI AML WITH 11Q23 REARRANGED 351238All SZGR 2.0 genes in this pathway
HOSHIDA LIVER CANCER SUBCLASS S2 11574All SZGR 2.0 genes in this pathway
DANG BOUND BY MYC 1103714All SZGR 2.0 genes in this pathway
JOHNSTONE PARVB TARGETS 3 UP 430288All SZGR 2.0 genes in this pathway
KRIEG KDM3A TARGETS NOT HYPOXIA 208107All SZGR 2.0 genes in this pathway

Section VI. microRNA annotation

miRNA familyTarget positionmiRNA IDmiRNA seq
UTR startUTR endMatch method
miR-203.1229723031Ahsa-miR-203UGAAAUGUUUAGGACCACUAG