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Center for Computational Systems Medicine
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Gene summary

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Gene structures and expression levels

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Exon skipping events with PSIs in RPSMAP, MSBB, and Mayo

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Open reading frame (ORF) annotation in the exon skipping event

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Exon skipping events in the canonical protein sequence

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3'-UTR located exon skipping events lost miRNA binding sites

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SNVs in the skipped exons with depth of coverage

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AD stage-associated exon skipping events

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Splicing Quantitative Trait Loci (sQTLs) in the skipped exons

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Correlation with RNA binding proteins (RBPs)

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Related drugs with this gene

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Related diseases with this gene

Gene summary for ATM

check button Gene summary
Gene informationGene symbol

ATM

Gene ID

472

Gene nameATM serine/threonine kinase
SynonymsAT1|ATA|ATC|ATD|ATDC|ATE|TEL1|TELO1
Cytomap

11q22.3

Type of geneprotein-coding
Descriptionserine-protein kinase ATMA-T mutatedAT mutatedTEL1, telomere maintenance 1, homologataxia telangiectasia mutated
Modification date20200322
UniProtAcc

A0A024R3C7,

A0A087X0E9,

A8WFP7,

E2I6F3,

E9PIN0,

E9PIQ5,

E9PRG7,

H0YDU7,

H0YEC6,

M0QXY8,

Q13315,

Q6P7P1,

Q8TDS0,

Q8TDS1,

Q8TDS2,

Q96QM9,

Context

check button Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez
GeneGO IDGO termPubMed ID
ATM

GO:0006468

protein phosphorylation

15916964

ATM

GO:0006974

cellular response to DNA damage stimulus

9733515|16213212

ATM

GO:0010212

response to ionizing radiation

9733515|11375976

ATM

GO:0018105

peptidyl-serine phosphorylation

9733515|26323318

ATM

GO:0046777

protein autophosphorylation

9733515|15790808

ATM

GO:0071044

histone mRNA catabolic process

16086026

ATM

GO:0071480

cellular response to gamma radiation

9925639|16213212

ATM

GO:0071481

cellular response to X-ray

26323318

ATM

GO:0071500

cellular response to nitrosative stress

23878245


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Gene structures and expression levels for ATM

check buttonSkipped exons in the ROSMAP, MSBB, and Mayo based on Ensembl gene isoform structure.
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

ENSG00000149311
check button Differentially expressed gene analysis across multiple brain tissues between AD and control.
Tissue typeDEG directionBase mean exp.log2FC(AD/control)P-valueAdj. p-value

check button Differentially expressed isoform analysis across multiple brain tissues between AD and control.
gencode gene structure
Tissue typeDEG directionENSTTranscript info.Base mean exp.log2FC(AD/control)P-valueAdjc. p-value
PGUPENST00000558916.1GATM-209:retained_intron:GATM2.771778e+011.138035e+001.520006e-056.860928e-04
CBUPENST00000531957.1ATM-217:retained_intron:ATM2.151285e+019.043687e-013.490200e-101.834079e-08
CBUPENST00000527891.5ATM-213:protein_coding:ATM4.037232e+001.088285e+005.285165e-066.141313e-05
CBUPENST00000533690.5ATM-221:retained_intron:ATM1.111415e+028.667419e-011.907118e-051.817213e-04
CBUPENST00000529588.5ATM-214:nonsense_mediated_decay:ATM1.177039e+001.813979e+002.582586e-052.348684e-04

check button Landscape of isoform expressions across multiple brain tissues between AD and control.
gencode gene structure

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Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for ATM

check button Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap).
boxplot

check button All exon skipping events in AD cohorts.
Exon skip IDchrExons involved in exon skippingSkipped exon
exon_skip_102513chr11108304675:108304852:108307897:108307984:108310160:108310315108307897:108307984
exon_skip_105764chr11108268410:108268609:108271064:108271146:108271251:108271352108271064:108271146
exon_skip_115100chr11108268528:108268609:108271064:108271146:108271251:108271352108271064:108271146
exon_skip_116371chr11108280995:108281168:108282710:108282879:108284227:108284473108282710:108282879
exon_skip_122435chr11108281003:108281168:108282710:108282879:108284227:108284473108282710:108282879
exon_skip_125469chr11108223174:108223186:108224784:108224871:108225501:108225574108224784:108224871
exon_skip_128067chr11108246964:108247127:108248933:108249102:108250701:108251072108248933:108249102
exon_skip_142318chr11108227776:108227888:108229178:108229323:108235670:108235743108229178:108229323
exon_skip_14693chr11108281087:108281168:108282710:108282879:108284227:108284473108282710:108282879
exon_skip_149431chr11108299714:108299885:108301648:108301789:108302853:108303029108301648:108301789
exon_skip_153510chr11108332777:108332900:108333886:108333968:108334969:108335109108333886:108333968
exon_skip_171572chr11108335845:108335961:108343222:108343371:108345743:108345908108343222:108343371
exon_skip_177057chr11108317373:108317521:108319954:108320058:108321301:108321420108319954:108320058
exon_skip_186121chr11108257481:108257606:108258986:108259075:108267171:108267342108258986:108259075
exon_skip_190424chr11108223529:108223686:108227595:108227696:108227776:108227888108227595:108227696
exon_skip_197587chr11108229178:108229323:108235670:108235834:108243953:108244084108235670:108235834
exon_skip_225560chr11108224784:108224871:108226164:108226247:108227595:108227696108226164:108226247
exon_skip_230239chr11108331506:108331557:108331879:108332037:108332762:108332900108331879:108332037
exon_skip_230916chr11108315823:108315911:108316011:108316113:108317373:108317467108316011:108316113
exon_skip_237788chr11108293418:108293477:108294927:108295059:108297287:108297382108294927:108295059
exon_skip_243240chr11108223090:108223186:108225501:108225574:108227595:108227696108225501:108225574
exon_skip_245858chr11108223090:108223186:108224784:108224871:108225501:108225574108224784:108224871
exon_skip_252519chr11108223174:108223186:108227595:108227696:108227776:108227888108227595:108227696
exon_skip_260559chr11108223174:108223186:108224784:108224871:108227595:108227696108224784:108224871
exon_skip_262575chr11108331444:108331557:108331879:108332037:108332762:108332900108331879:108332037
exon_skip_266261chr11108224078:108224136:108224784:108224871:108227595:108227696108224784:108224871
exon_skip_266705chr11108223174:108223186:108225501:108225574:108227595:108227696108225501:108225574
exon_skip_273357chr11108253814:108254039:108256215:108256340:108257481:108257606108256215:108256340
exon_skip_280260chr11108312411:108312498:108315823:108315911:108316011:108316113108315823:108315911
exon_skip_288343chr11108345743:108345908:108347279:108347365:108353766:108353880108347279:108347365
exon_skip_290119chr11108279491:108279608:108280995:108281168:108282710:108282879108280995:108281168
exon_skip_30153chr11108224784:108224871:108225501:108225574:108227595:108227696108225501:108225574
exon_skip_60903chr11108293385:108293477:108294927:108295059:108297287:108297382108294927:108295059
exon_skip_64833chr11108331446:108331557:108331879:108332037:108332762:108332900108331879:108332037
exon_skip_71327chr11108299716:108299885:108301648:108301789:108302853:108303029108301648:108301789
exon_skip_76864chr11108243953:108244118:108244788:108245026:108246964:108247127108244788:108245026
exon_skip_78972chr11108267171:108267342:108268410:108268609:108271064:108271146108268410:108268609
exon_skip_79791chr11108331879:108332037:108332762:108332900:108333886:108333908108332762:108332900
exon_skip_82910chr11108292619:108292793:108293313:108293477:108294927:108295059108293313:108293477
exon_skip_85428chr11108347279:108347365:108353766:108353880:108354811:108354874108353766:108353880
exon_skip_91370chr11108310160:108310315:108312411:108312498:108315823:108315894108312411:108312498

check button Differentially expressed PSI values of individual exon skipping events in multiple brain tissues between AD and control.
psi tcga
Exon skipping informationTissue typeAvg(PSIs) in ADAvg(PSIs) in controlDifference (PSI)Adj. p-value
exon_skip_289440Mayo_CB7.243210e-018.912500e-01-1.669290e-011.722196e-09


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Open reading frame (ORF) annotation in the exon skipping event for ATM

check button Open reading frame (ORF) of individual exon skipping events in ROSMAP based on the Ensembl gene structure combined from isoforms.
ENSTStart of skipped exonEnd of skipped exonORF
ENST000004525081082247841082248715UTR-5UTR
ENST00000278616108248933108249102Frame-shift
ENST00000452508108248933108249102Frame-shift
ENST00000278616108268410108268609Frame-shift
ENST00000452508108268410108268609Frame-shift
ENST00000278616108271064108271146Frame-shift
ENST00000452508108271064108271146Frame-shift
ENST00000278616108294927108295059Frame-shift
ENST00000452508108294927108295059Frame-shift
ENST00000278616108307897108307984Frame-shift
ENST00000452508108307897108307984Frame-shift
ENST00000278616108315823108315911Frame-shift
ENST00000452508108315823108315911Frame-shift
ENST00000278616108316011108316113Frame-shift
ENST00000452508108316011108316113Frame-shift
ENST00000278616108332762108332900Frame-shift
ENST00000452508108332762108332900Frame-shift
ENST00000278616108333886108333968Frame-shift
ENST00000452508108333886108333968Frame-shift
ENST00000278616108235670108235834In-frame
ENST00000452508108235670108235834In-frame
ENST00000278616108256215108256340In-frame
ENST00000452508108256215108256340In-frame
ENST00000278616108258986108259075In-frame
ENST00000452508108258986108259075In-frame
ENST00000278616108293313108293477In-frame
ENST00000452508108293313108293477In-frame
ENST00000278616108331879108332037In-frame
ENST00000452508108331879108332037In-frame

check button Open reading frame (ORF) of individual exon skipping events in MSBB based on the Ensembl gene structure combined from isoforms.
ENSTStart of skipped exonEnd of skipped exonORF
ENST000004525081082247841082248715UTR-5UTR
ENST00000278616108229178108229323Frame-shift
ENST00000452508108229178108229323Frame-shift
ENST00000278616108248933108249102Frame-shift
ENST00000452508108248933108249102Frame-shift
ENST00000278616108268410108268609Frame-shift
ENST00000452508108268410108268609Frame-shift
ENST00000278616108271064108271146Frame-shift
ENST00000452508108271064108271146Frame-shift
ENST00000278616108282710108282879Frame-shift
ENST00000452508108282710108282879Frame-shift
ENST00000278616108294927108295059Frame-shift
ENST00000452508108294927108295059Frame-shift
ENST00000278616108301648108301789Frame-shift
ENST00000452508108301648108301789Frame-shift
ENST00000278616108316011108316113Frame-shift
ENST00000452508108316011108316113Frame-shift
ENST00000278616108332762108332900Frame-shift
ENST00000452508108332762108332900Frame-shift
ENST00000278616108235670108235834In-frame
ENST00000452508108235670108235834In-frame
ENST00000278616108258986108259075In-frame
ENST00000452508108258986108259075In-frame
ENST00000278616108331879108332037In-frame
ENST00000452508108331879108332037In-frame

check button Open reading frame (ORF) of individual exon skipping events in Mayo based on the Ensembl gene structure combined from isoforms.
ENSTStart of skipped exonEnd of skipped exonORF
ENST000002786161082275951082276965CDS-5UTR
ENST000004525081082247841082248715UTR-5UTR
ENST00000278616108244788108245026Frame-shift
ENST00000452508108244788108245026Frame-shift
ENST00000278616108248933108249102Frame-shift
ENST00000452508108248933108249102Frame-shift
ENST00000278616108268410108268609Frame-shift
ENST00000452508108268410108268609Frame-shift
ENST00000278616108271064108271146Frame-shift
ENST00000452508108271064108271146Frame-shift
ENST00000278616108282710108282879Frame-shift
ENST00000452508108282710108282879Frame-shift
ENST00000278616108294927108295059Frame-shift
ENST00000452508108294927108295059Frame-shift
ENST00000278616108301648108301789Frame-shift
ENST00000452508108301648108301789Frame-shift
ENST00000278616108307897108307984Frame-shift
ENST00000452508108307897108307984Frame-shift
ENST00000278616108312411108312498Frame-shift
ENST00000452508108312411108312498Frame-shift
ENST00000278616108316011108316113Frame-shift
ENST00000452508108316011108316113Frame-shift
ENST00000278616108332762108332900Frame-shift
ENST00000452508108332762108332900Frame-shift
ENST00000278616108353766108353880Frame-shift
ENST00000452508108353766108353880Frame-shift
ENST00000278616108235670108235834In-frame
ENST00000452508108235670108235834In-frame
ENST00000278616108258986108259075In-frame
ENST00000452508108258986108259075In-frame
ENST00000278616108280995108281168In-frame
ENST00000452508108280995108281168In-frame
ENST00000278616108293313108293477In-frame
ENST00000452508108293313108293477In-frame
ENST00000278616108319954108320058In-frame
ENST00000452508108319954108320058In-frame
ENST00000278616108331879108332037In-frame
ENST00000452508108331879108332037In-frame
ENST00000278616108343222108343371In-frame
ENST00000452508108343222108343371In-frame
ENST00000278616108347279108347365In-frame
ENST00000452508108347279108347365In-frame

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Infer the effects of exon skipping event on protein functional features for ATM

p-ENSG00000149311_img4.png
boxplot

check button Loci of skipped exons in ROSMAP across genomic, transcript, and protein sequence levels of In-frame cases.
ENSTLength of mRNALength of AA seq.Genomic startGenomic endmRNA startmRNA endAA startAA end
ENST00000278616131643056108235670108235834718881111165
ENST00000452508129713056108235670108235834522685111165
ENST0000027861613164305610825621510825634025112635708750
ENST0000045250812971305610825621510825634023152439708750
ENST0000027861613164305610825898610825907527632851792822
ENST0000045250812971305610825898610825907525672655792822
ENST000002786161316430561082933131082934774998516115371592
ENST000004525081297130561082933131082934774802496515371592
ENST000002786161316430561083318791083320378016817325432596
ENST000004525081297130561083318791083320377820797725432596

check button Loci of skipped exons in MSBB across genomic, transcript, and protein sequence levels of In-frame cases.
ENSTLength of mRNALength of AA seq.Genomic startGenomic endmRNA startmRNA endAA startAA end
ENST00000278616131643056108235670108235834718881111165
ENST00000452508129713056108235670108235834522685111165
ENST0000027861613164305610825898610825907527632851792822
ENST0000045250812971305610825898610825907525672655792822
ENST000002786161316430561083318791083320378016817325432596
ENST000004525081297130561083318791083320377820797725432596

check button Loci of skipped exons in Mayo across genomic, transcript, and protein sequence levels of In-frame cases.
ENSTLength of mRNALength of AA seq.Genomic startGenomic endmRNA startmRNA endAA startAA end
ENST00000278616131643056108235670108235834718881111165
ENST00000452508129713056108235670108235834522685111165
ENST0000027861613164305610825898610825907527632851792822
ENST0000045250812971305610825898610825907525672655792822
ENST000002786161316430561082809951082811683789396111341192
ENST000004525081297130561082809951082811683593376511341192
ENST000002786161316430561082933131082934774998516115371592
ENST000004525081297130561082933131082934774802496515371592
ENST000002786161316430561083199541083200586734683721162150
ENST000004525081297130561083199541083200586538664121162150
ENST000002786161316430561083318791083320378016817325432596
ENST000004525081297130561083318791083320377820797725432596
ENST000002786161316430561083432221083433718655880327562806
ENST000004525081297130561083432221083433718459860727562806
ENST000002786161316430561083472791083473658971905628622890
ENST000004525081297130561083472791083473658775886028622890

check button Lost protein functional features of individual exon skipping events in ROSMAP.
UniProt acc.Start of exon skipping (AA)End of exon skipping (AA)Protein feature start (AA)Protein feature end (AA)Category of protein featureDescription of feature
Q1331511116523056ChainID=PRO_0000088840;Note=Serine-protein kinase ATM
Q1331511116523056ChainID=PRO_0000088840;Note=Serine-protein kinase ATM
Q13315111165126126Natural variantID=VAR_010799;Note=D->E;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:17344846,ECO:0000269|PubMed:9711876;Dbxref=dbSNP:rs2234997,PMID:17344846,PMID:9711876
Q13315111165126126Natural variantID=VAR_010799;Note=D->E;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:17344846,ECO:0000269|PubMed:9711876;Dbxref=dbSNP:rs2234997,PMID:17344846,PMID:9711876
Q13315111165140140Natural variantID=VAR_041546;Note=D->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17344846;Dbxref=dbSNP:rs55633650,PMID:17344846
Q13315111165140140Natural variantID=VAR_041546;Note=D->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17344846;Dbxref=dbSNP:rs55633650,PMID:17344846
Q1331570875023056ChainID=PRO_0000088840;Note=Serine-protein kinase ATM
Q1331570875023056ChainID=PRO_0000088840;Note=Serine-protein kinase ATM
Q13315708750750750Sequence conflictNote=K->N;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q13315708750750750Sequence conflictNote=K->N;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q1331579282223056ChainID=PRO_0000088840;Note=Serine-protein kinase ATM
Q1331579282223056ChainID=PRO_0000088840;Note=Serine-protein kinase ATM
Q13315792822814814Natural variantID=VAR_056681;Note=D->E;Dbxref=dbSNP:rs3218695
Q13315792822814814Natural variantID=VAR_056681;Note=D->E;Dbxref=dbSNP:rs3218695
Q133151537159223056ChainID=PRO_0000088840;Note=Serine-protein kinase ATM
Q133151537159223056ChainID=PRO_0000088840;Note=Serine-protein kinase ATM
Q133151537159215411541Natural variantID=VAR_056686;Note=L->F;Dbxref=dbSNP:rs3092849
Q133151537159215411541Natural variantID=VAR_056686;Note=L->F;Dbxref=dbSNP:rs3092849
Q133151537159215661566Natural variantID=VAR_010827;Note=In AT. P->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9792409;Dbxref=PMID:9792409
Q133151537159215661566Natural variantID=VAR_010827;Note=In AT. P->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9792409;Dbxref=PMID:9792409
Q133151537159215701570Natural variantID=VAR_010828;Note=V->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10534763;Dbxref=dbSNP:rs140856217,PMID:10534763
Q133151537159215701570Natural variantID=VAR_010828;Note=V->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10534763;Dbxref=dbSNP:rs140856217,PMID:10534763
Q133152543259623056ChainID=PRO_0000088840;Note=Serine-protein kinase ATM
Q133152543259623056ChainID=PRO_0000088840;Note=Serine-protein kinase ATM
Q133152543259619602566DomainNote=FAT;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00534
Q133152543259619602566DomainNote=FAT;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00534
Q133152543259625462548Natural variantID=VAR_010861;Note=In AT%3B also found in T-prolymphocytic leukemia and T-cell acute lymphoblastic leukemia%3B lack of phosphorylation of target proteins. Missing;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:00
Q133152543259625462548Natural variantID=VAR_010861;Note=In AT%3B also found in T-prolymphocytic leukemia and T-cell acute lymphoblastic leukemia%3B lack of phosphorylation of target proteins. Missing;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:00
Q133152543259625542554Natural variantID=VAR_010862;Note=In AT%3B lack of phosphorylation of target proteins. H->D;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:19431188,ECO:0000269|PubMed:9463314;Dbxref=PMID:19431188,PMID:9463314
Q133152543259625542554Natural variantID=VAR_010862;Note=In AT%3B lack of phosphorylation of target proteins. H->D;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:19431188,ECO:0000269|PubMed:9463314;Dbxref=PMID:19431188,PMID:9463314
Q133152543259625702570Natural variantID=VAR_056690;Note=E->G;Dbxref=dbSNP:rs28904920
Q133152543259625702570Natural variantID=VAR_056690;Note=E->G;Dbxref=dbSNP:rs28904920

check button Lost protein functional features of individual exon skipping events in MSBB.
UniProt acc.Start of exon skipping (AA)End of exon skipping (AA)Protein feature start (AA)Protein feature end (AA)Category of protein featureDescription of feature
Q1331511116523056ChainID=PRO_0000088840;Note=Serine-protein kinase ATM
Q1331511116523056ChainID=PRO_0000088840;Note=Serine-protein kinase ATM
Q13315111165126126Natural variantID=VAR_010799;Note=D->E;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:17344846,ECO:0000269|PubMed:9711876;Dbxref=dbSNP:rs2234997,PMID:17344846,PMID:9711876
Q13315111165126126Natural variantID=VAR_010799;Note=D->E;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:17344846,ECO:0000269|PubMed:9711876;Dbxref=dbSNP:rs2234997,PMID:17344846,PMID:9711876
Q13315111165140140Natural variantID=VAR_041546;Note=D->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17344846;Dbxref=dbSNP:rs55633650,PMID:17344846
Q13315111165140140Natural variantID=VAR_041546;Note=D->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17344846;Dbxref=dbSNP:rs55633650,PMID:17344846
Q1331579282223056ChainID=PRO_0000088840;Note=Serine-protein kinase ATM
Q1331579282223056ChainID=PRO_0000088840;Note=Serine-protein kinase ATM
Q13315792822814814Natural variantID=VAR_056681;Note=D->E;Dbxref=dbSNP:rs3218695
Q13315792822814814Natural variantID=VAR_056681;Note=D->E;Dbxref=dbSNP:rs3218695
Q133152543259623056ChainID=PRO_0000088840;Note=Serine-protein kinase ATM
Q133152543259623056ChainID=PRO_0000088840;Note=Serine-protein kinase ATM
Q133152543259619602566DomainNote=FAT;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00534
Q133152543259619602566DomainNote=FAT;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00534
Q133152543259625462548Natural variantID=VAR_010861;Note=In AT%3B also found in T-prolymphocytic leukemia and T-cell acute lymphoblastic leukemia%3B lack of phosphorylation of target proteins. Missing;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:00
Q133152543259625462548Natural variantID=VAR_010861;Note=In AT%3B also found in T-prolymphocytic leukemia and T-cell acute lymphoblastic leukemia%3B lack of phosphorylation of target proteins. Missing;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:00
Q133152543259625542554Natural variantID=VAR_010862;Note=In AT%3B lack of phosphorylation of target proteins. H->D;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:19431188,ECO:0000269|PubMed:9463314;Dbxref=PMID:19431188,PMID:9463314
Q133152543259625542554Natural variantID=VAR_010862;Note=In AT%3B lack of phosphorylation of target proteins. H->D;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:19431188,ECO:0000269|PubMed:9463314;Dbxref=PMID:19431188,PMID:9463314
Q133152543259625702570Natural variantID=VAR_056690;Note=E->G;Dbxref=dbSNP:rs28904920
Q133152543259625702570Natural variantID=VAR_056690;Note=E->G;Dbxref=dbSNP:rs28904920

check button Lost protein functional features of individual exon skipping events in Mayo.
UniProt acc.Start of exon skipping (AA)End of exon skipping (AA)Protein feature start (AA)Protein feature end (AA)Category of protein featureDescription of feature
Q1331511116523056ChainID=PRO_0000088840;Note=Serine-protein kinase ATM
Q1331511116523056ChainID=PRO_0000088840;Note=Serine-protein kinase ATM
Q13315111165126126Natural variantID=VAR_010799;Note=D->E;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:17344846,ECO:0000269|PubMed:9711876;Dbxref=dbSNP:rs2234997,PMID:17344846,PMID:9711876
Q13315111165126126Natural variantID=VAR_010799;Note=D->E;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:17344846,ECO:0000269|PubMed:9711876;Dbxref=dbSNP:rs2234997,PMID:17344846,PMID:9711876
Q13315111165140140Natural variantID=VAR_041546;Note=D->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17344846;Dbxref=dbSNP:rs55633650,PMID:17344846
Q13315111165140140Natural variantID=VAR_041546;Note=D->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17344846;Dbxref=dbSNP:rs55633650,PMID:17344846
Q1331579282223056ChainID=PRO_0000088840;Note=Serine-protein kinase ATM
Q1331579282223056ChainID=PRO_0000088840;Note=Serine-protein kinase ATM
Q13315792822814814Natural variantID=VAR_056681;Note=D->E;Dbxref=dbSNP:rs3218695
Q13315792822814814Natural variantID=VAR_056681;Note=D->E;Dbxref=dbSNP:rs3218695
Q133151134119223056ChainID=PRO_0000088840;Note=Serine-protein kinase ATM
Q133151134119223056ChainID=PRO_0000088840;Note=Serine-protein kinase ATM
Q133151134119211791179Natural variantID=VAR_041560;Note=In a gastric adenocarcinoma sample%3B somatic mutation. S->F;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17344846;Dbxref=PMID:17344846
Q133151134119211791179Natural variantID=VAR_041560;Note=In a gastric adenocarcinoma sample%3B somatic mutation. S->F;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17344846;Dbxref=PMID:17344846
Q133151537159223056ChainID=PRO_0000088840;Note=Serine-protein kinase ATM
Q133151537159223056ChainID=PRO_0000088840;Note=Serine-protein kinase ATM
Q133151537159215411541Natural variantID=VAR_056686;Note=L->F;Dbxref=dbSNP:rs3092849
Q133151537159215411541Natural variantID=VAR_056686;Note=L->F;Dbxref=dbSNP:rs3092849
Q133151537159215661566Natural variantID=VAR_010827;Note=In AT. P->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9792409;Dbxref=PMID:9792409
Q133151537159215661566Natural variantID=VAR_010827;Note=In AT. P->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9792409;Dbxref=PMID:9792409
Q133151537159215701570Natural variantID=VAR_010828;Note=V->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10534763;Dbxref=dbSNP:rs140856217,PMID:10534763
Q133151537159215701570Natural variantID=VAR_010828;Note=V->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10534763;Dbxref=dbSNP:rs140856217,PMID:10534763
Q133152116215023056ChainID=PRO_0000088840;Note=Serine-protein kinase ATM
Q133152116215023056ChainID=PRO_0000088840;Note=Serine-protein kinase ATM
Q133152116215019602566DomainNote=FAT;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00534
Q133152116215019602566DomainNote=FAT;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00534
Q133152116215021392139Natural variantID=VAR_010842;Note=In T-prolymphocytic leukemia%3B somatic mutation. E->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9488043;Dbxref=PMID:9488043
Q133152116215021392139Natural variantID=VAR_010842;Note=In T-prolymphocytic leukemia%3B somatic mutation. E->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9488043;Dbxref=PMID:9488043
Q133152543259623056ChainID=PRO_0000088840;Note=Serine-protein kinase ATM
Q133152543259623056ChainID=PRO_0000088840;Note=Serine-protein kinase ATM
Q133152543259619602566DomainNote=FAT;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00534
Q133152543259619602566DomainNote=FAT;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00534
Q133152543259625462548Natural variantID=VAR_010861;Note=In AT%3B also found in T-prolymphocytic leukemia and T-cell acute lymphoblastic leukemia%3B lack of phosphorylation of target proteins. Missing;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:00
Q133152543259625462548Natural variantID=VAR_010861;Note=In AT%3B also found in T-prolymphocytic leukemia and T-cell acute lymphoblastic leukemia%3B lack of phosphorylation of target proteins. Missing;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:00
Q133152543259625542554Natural variantID=VAR_010862;Note=In AT%3B lack of phosphorylation of target proteins. H->D;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:19431188,ECO:0000269|PubMed:9463314;Dbxref=PMID:19431188,PMID:9463314
Q133152543259625542554Natural variantID=VAR_010862;Note=In AT%3B lack of phosphorylation of target proteins. H->D;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:19431188,ECO:0000269|PubMed:9463314;Dbxref=PMID:19431188,PMID:9463314
Q133152543259625702570Natural variantID=VAR_056690;Note=E->G;Dbxref=dbSNP:rs28904920
Q133152543259625702570Natural variantID=VAR_056690;Note=E->G;Dbxref=dbSNP:rs28904920
Q133152756280623056ChainID=PRO_0000088840;Note=Serine-protein kinase ATM
Q133152756280623056ChainID=PRO_0000088840;Note=Serine-protein kinase ATM
Q133152756280627122962DomainNote=PI3K/PI4K;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00269
Q133152756280627122962DomainNote=PI3K/PI4K;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00269
Q133152756280627652765Natural variantID=VAR_010876;Note=May contribute to breast cancer%3B lack of phosphorylation of target proteins. G->S;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10534763,ECO:0000269|PubMed:19431188;Dbxref=dbSNP:rs748634900,PMID:10534763,PMID:19431
Q133152756280627652765Natural variantID=VAR_010876;Note=May contribute to breast cancer%3B lack of phosphorylation of target proteins. G->S;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10534763,ECO:0000269|PubMed:19431188;Dbxref=dbSNP:rs748634900,PMID:10534763,PMID:19431
Q133152862289023056ChainID=PRO_0000088840;Note=Serine-protein kinase ATM
Q133152862289023056ChainID=PRO_0000088840;Note=Serine-protein kinase ATM
Q133152862289027122962DomainNote=PI3K/PI4K;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00269
Q133152862289027122962DomainNote=PI3K/PI4K;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00269
Q133152862289028702870MutagenesisNote=Loss of kinase activity. D->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9733515;Dbxref=PMID:9733515
Q133152862289028702870MutagenesisNote=Loss of kinase activity. D->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9733515;Dbxref=PMID:9733515
Q133152862289028752875MutagenesisNote=Loss of kinase activity. N->K;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9733515;Dbxref=PMID:9733515
Q133152862289028752875MutagenesisNote=Loss of kinase activity. N->K;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9733515;Dbxref=PMID:9733515
Q133152862289028672867Natural variantID=VAR_010886;Note=In AT. G->R;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:8698354,ECO:0000269|PubMed:9887333;Dbxref=PMID:8698354,PMID:9887333
Q133152862289028672867Natural variantID=VAR_010886;Note=In AT. G->R;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:8698354,ECO:0000269|PubMed:9887333;Dbxref=PMID:8698354,PMID:9887333
Q133152862289028702870Natural variantID=VAR_041583;Note=D->N;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17344846;Dbxref=dbSNP:rs55798854,PMID:17344846
Q133152862289028702870Natural variantID=VAR_041583;Note=D->N;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17344846;Dbxref=dbSNP:rs55798854,PMID:17344846
Q133152862289028712872Natural variantID=VAR_010887;Note=In T-prolymphocytic leukemia. RH->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9288106;Dbxref=PMID:9288106
Q133152862289028712872Natural variantID=VAR_010887;Note=In T-prolymphocytic leukemia. RH->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9288106;Dbxref=PMID:9288106
Q133152862289028902890Natural variantID=VAR_010888;Note=In T-prolymphocytic leukemia. L->V;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:9288106,ECO:0000269|PubMed:9488043;Dbxref=dbSNP:rs587779874,PMID:9288106,PMID:9488043
Q133152862289028902890Natural variantID=VAR_010888;Note=In T-prolymphocytic leukemia. L->V;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:9288106,ECO:0000269|PubMed:9488043;Dbxref=dbSNP:rs587779874,PMID:9288106,PMID:9488043


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3'-UTR located exon skipping events that lost miRNA binding sites in ATM

check button 3'-UTR exon skipping evnets lost miRNA binding.
Tissue typeENSTExon skip startExon skip endmicroRNABinding site by TargetScanBinding type by TargetScanBdinding site by miRandaScore of miRandaEnergy by miRanda

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SNVs in the skipped exons for ATM

check button - Differential PSIs between mutated versus non-mutated samples.

check button - Depth of Coverage in the skipped exon of the mutated samples.

check button - Sashimi plot in the skipped exon of the mutated samples.

check button - Non-synonymous mutations located in the skipped exons.
Cancer typeSampleESIDSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange

check button - Non-synonymous mutations located in the skipped exons in CCLE.
SampleSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange

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AD stage-associated exon skippint events for ATM

check button Associated exon skipping events with Braak staging or Clinical Dementia Rating (CDR).
AD stage infoCohortTissueSE idCoefficient P-valueChromosomeStrandE1 startE1 endSkipped startSkipped endE2 startE2 end
ADstageMSBBIFGexon_skip_1975874.917934e-017.859577e-03chr11+108229178108229323108235670108235834108243953108244084

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ATM

check button sQTL information located at the skipped exons.
Tissue typeExon skip IDSNP idLocationP-valueFDR

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Correlation with RNA binding proteins (RBPs) for ATM

check button Correlated RBP and related information.
Tissue typeRBP nameExon skip IDCorrelation coeifficientP-value
CBDAZAP1exon_skip_128067-4.770467e-014.722978e-08
CBRBM6exon_skip_128067-6.069729e-013.195267e-13
CBCNOT4exon_skip_128067-4.331353e-019.636255e-07
CBTIA1exon_skip_1280674.808798e-013.555817e-08
CBRBM3exon_skip_1280674.502800e-013.120796e-07
CBTRA2Aexon_skip_128067-5.029069e-016.493250e-09
CBHNRNPDLexon_skip_1280674.732244e-016.246638e-08
CBRBM45exon_skip_1280676.853037e-011.132080e-17
CBNUP42exon_skip_1280675.032020e-016.341776e-09
CBPABPC1exon_skip_1280674.736620e-016.050915e-08
CBRBM6exon_skip_27235-4.074493e-016.202086e-06
CBCNOT4exon_skip_27235-4.011970e-018.850463e-06
CBTIA1exon_skip_272355.405624e-014.493197e-10
CBPCBP1exon_skip_27235-4.184914e-013.251669e-06
CBTRA2Aexon_skip_27235-5.457294e-012.839787e-10
CBNUP42exon_skip_272355.888667e-014.456910e-12
CBDAZAP1exon_skip_289440-4.930377e-012.975600e-10
CBPABPN1exon_skip_289440-4.285660e-017.542427e-08
CBELAVL1exon_skip_289440-4.689669e-012.690764e-09
CBRBM6exon_skip_289440-5.666017e-011.099224e-13
CBCNOT4exon_skip_289440-5.926126e-014.090607e-15
CBPCBP1exon_skip_289440-4.242234e-011.052425e-07
CBTRA2Aexon_skip_289440-6.679301e-014.454183e-20
CBFUBP1exon_skip_289440-5.125270e-014.395379e-11
CBKHSRPexon_skip_289440-4.329652e-015.356265e-08
CBNUP42exon_skip_2894405.438063e-011.565891e-12
CBDAZAP1exon_skip_79791-4.343481e-014.313865e-08
CBFUBP1exon_skip_79791-4.289121e-016.611799e-08
HCCSFPQexon_skip_128067-4.056965e-014.391917e-11
HCCRBM6exon_skip_128067-4.339077e-011.268366e-12
HCCRBM5exon_skip_128067-4.203913e-017.222520e-12
HCCRBM3exon_skip_1280674.136269e-011.676132e-11
IFGRBMS3exon_skip_2605594.931843e-011.968517e-02
IFGTIA1exon_skip_2605595.239371e-011.232129e-02
IFGRC3H1exon_skip_2605595.114082e-011.498791e-02
IFGFUBP1exon_skip_2605594.299701e-014.579556e-02
IFGKHSRPexon_skip_2605594.584450e-013.188535e-02
IFGHNRNPDLexon_skip_1975874.166792e-012.740108e-02
IFGFUBP1exon_skip_797914.205343e-014.073648e-02
IFGHNRNPDLexon_skip_797914.629474e-012.272049e-02
IFGSRSF9exon_skip_797914.811909e-011.728770e-02

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RelatedDrugs for ATM

check button Approved drugs targeting this gene.
(DrugBank Version 5.1.0 2018-04-02)
UniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
Q13315approvedDB00201Caffeinesmall moleculeQ13315

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RelatedDiseases for ATM

check button Diseases associated with this gene.
(DisGeNet 4.0)
GeneDisease IDDisease name# pubmedsSource