• Gene id: 472

Gene Summary

• Gene Symbol: ATM   Gene   UCSC   Ensembl
• Aliases: AT1, ATA, ATC, ATD, ATDC, ATE, TEL1, TELO1
• Gene name: ATM serine/threonine kinase
• Alternate names: serine-protein kinase ATM, A-T mutated, AT mutated, TEL1, telomere maintenance 1, homolog, ataxia telangiectasia mutated,
• Gene location: 11q22.3 (108222483: 108369098)     Exons: 69     NC_000011.10
• Gene summary(Entrez): The protein encoded by this gene belongs to the PI3/PI4-kinase family. This protein is an important cell cycle checkpoint kinase that phosphorylates; thus, it functions as a regulator of a wide variety of downstream proteins, including tumor suppressor pr
• OMIM: 607585

SNPs

rs189037

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000011.10   g.108223106G>A
NC_000011.9   g.108093833G>A
NG_009830.1   g.5275G>A
NM_000051.4   c.-111G>A
NM_000051.3   c.-111G>A
NM_001351834.2   c.-199G>A
NM_001351834.1   c.-199G>A
NM_001351835.1   c.-111G>A
XM_011542844.3   c.-1133G>A
XM_011542842.3   c.-111G>A
XM_  

Protein Summary

• Protein general information: Q13315  
  • Name: Serine protein kinase ATM (EC 2.7.11.1) (Ataxia telangiectasia mutated) (A T mutated)
  • Length: 3056  
  • Mass: 350,687
• Sequence:

  MSLVLNDLLICCRQLEHDRATERKKEVEKFKRLIRDPETIKHLDRHSDSKQGKYLNWDAVFRFLQKYIQKETECL
  RIAKPNVSASTQASRQKKMQEISSLVKYFIKCANRRAPRLKCQELLNYIMDTVKDSSNGAIYGADCSNILLKDIL
  SVRKYWCEISQQQWLELFSVYFRLYLKPSQDVHRVLVARIIHAVTKGCCSQTDGLNSKFLDFFSKAIQCARQEKS
  SSGLNHILAALTIFLKTLAVNFRIRVCELGDEILPTLLYIWTQHRLNDSLKEVIIELFQLQIYIHHPKGAKTQEK
  GAYESTKWRSILYNLYDLLVNEISHIGSRGKYSSGFRNIAVKENLIELMADICHQVFNEDTRSLEISQSYTTTQR
  ESSDYSVPCKRKKIELGWEVIKDHLQKSQNDFDLVPWLQIATQLISKYPASLPNCELSPLLMILSQLLPQQRHGE
  RTPYVLRCLTEVALCQDKRSNLESSQKSDLLKLWNKIWCITFRGISSEQIQAENFGLLGAIIQGSLVEVDREFWK
  LFTGSACRPSCPAVCCLTLALTTSIVPGTVKMGIEQNMCEVNRSFSLKESIMKWLLFYQLEGDLENSTEVPPILH
  SNFPHLVLEKILVSLTMKNCKAAMNFFQSVPECEHHQKDKEELSFSEVEELFLQTTFDKMDFLTIVRECGIEKHQ
  SSIGFSVHQNLKESLDRCLLGLSEQLLNNYSSEITNSETLVRCSRLLVGVLGCYCYMGVIAEEEAYKSELFQKAK
  SLMQCAGESITLFKNKTNEEFRIGSLRNMMQLCTRCLSNCTKKSPNKIASGFFLRLLTSKLMNDIADICKSLASF
  IKKPFDRGEVESMEDDTNGNLMEVEDQSSMNLFNDYPDSSVSDANEPGESQSTIGAINPLAEEYLSKQDLLFLDM
  LKFLCLCVTTAQTNTVSFRAADIRRKLLMLIDSSTLEPTKSLHLHMYLMLLKELPGEEYPLPMEDVLELLKPLSN
  VCSLYRRDQDVCKTILNHVLHVVKNLGQSNMDSENTRDAQGQFLTVIGAFWHLTKERKYIFSVRMALVNCLKTLL
  EADPYSKWAILNVMGKDFPVNEVFTQFLADNHHQVRMLAAESINRLFQDTKGDSSRLLKALPLKLQQTAFENAYL
  KAQEGMREMSHSAENPETLDEIYNRKSVLLTLIAVVLSCSPICEKQALFALCKSVKENGLEPHLVKKVLEKVSET
  FGYRRLEDFMASHLDYLVLEWLNLQDTEYNLSSFPFILLNYTNIEDFYRSCYKVLIPHLVIRSHFDEVKSIANQI
  QEDWKSLLTDCFPKILVNILPYFAYEGTRDSGMAQQRETATKVYDMLKSENLLGKQIDHLFISNLPEIVVELLMT
  LHEPANSSASQSTDLCDFSGDLDPAPNPPHFPSHVIKATFAYISNCHKTKLKSILEILSKSPDSYQKILLAICEQ
  AAETNNVYKKHRILKIYHLFVSLLLKDIKSGLGGAWAFVLRDVIYTLIHYINQRPSCIMDVSLRSFSLCCDLLSQ
  VCQTAVTYCKDALENHLHVIVGTLIPLVYEQVEVQKQVLDLLKYLVIDNKDNENLYITIKLLDPFPDHVVFKDLR
  ITQQKIKYSRGPFSLLEEINHFLSVSVYDALPLTRLEGLKDLRRQLELHKDQMVDIMRASQDNPQDGIMVKLVVN
  LLQLSKMAINHTGEKEVLEAVGSCLGEVGPIDFSTIAIQHSKDASYTKALKLFEDKELQWTFIMLTYLNNTLVED
  CVKVRSAAVTCLKNILATKTGHSFWEIYKMTTDPMLAYLQPFRTSRKKFLEVPRFDKENPFEGLDDINLWIPLSE
  NHDIWIKTLTCAFLDSGGTKCEILQLLKPMCEVKTDFCQTVLPYLIHDILLQDTNESWRNLLSTHVQGFFTSCLR
  HFSQTSRSTTPANLDSESEHFFRCCLDKKSQRTMLAVVDYMRRQKRPSSGTIFNDAFWLDLNYLEVAKVAQSCAA
  HFTALLYAEIYADKKSMDDQEKRSLAFEEGSQSTTISSLSEKSKEETGISLQDLLLEIYRSIGEPDSLYGCGGGK
  MLQPITRLRTYEHEAMWGKALVTYDLETAIPSSTRQAGIIQALQNLGLCHILSVYLKGLDYENKDWCPELEELHY
  QAAWRNMQWDHCTSVSKEVEGTSYHESLYNALQSLRDREFSTFYESLKYARVKEVEEMCKRSLESVYSLYPTLSR
  LQAIGELESIGELFSRSVTHRQLSEVYIKWQKHSQLLKDSDFSFQEPIMALRTVILEILMEKEMDNSQRECIKDI
  LTKHLVELSILARTFKNTQLPERAIFQIKQYNSVSCGVSEWQLEEAQVFWAKKEQSLALSILKQMIKKLDASCAA
  NNPSLKLTYTECLRVCGNWLAETCLENPAVIMQTYLEKAVEVAGNYDGESSDELRNGKMKAFLSLARFSDTQYQR
  IENYMKSSEFENKQALLKRAKEEVGLLREHKIQTNRYTVKVQRELELDELALRALKEDRKRFLCKAVENYINCLL
  SGEEHDMWVFRLCSLWLENSGVSEVNGMMKRDGMKIPTYKFLPLMYQLAARMGTKMMGGLGFHEVLNNLISRISM
  DHPHHTLFIILALANANRDEFLTKPEVARRSRITKNVPKQSSQLDEDRTEAANRIICTIRSRRPQMVRSVEALCD
  AYIILANLDATQWKTQRKGINIPADQPITKLKNLEDVVVPTMEIKVDHTGEYGNLVTIQSFKAEFRLAGGVNLPK
  IIDCVGSDGKERRQLVKGRDDLRQDAVMQQVFQMCNTLLQRNTETRKRKLTICTYKVVPLSQRSGVLEWCTGTVP
  IGEFLVNNEDGAHKRYRPNDFSAFQCQKKMMEVQKKSFEEKYEVFMDVCQNFQPVFRYFCMEKFLDPAIWFEKRL
  AYTRSVATSSIVGYILGLGDRHVQNILINEQSAELVHIDLGVAFEQGKILPTPETVPFRLTRDIVDGMGITGVEG
  VFRRCCEKTMEVMRNSQETLLTIVEVLLYDPLFDWTMNPLKALYLQQRPEDETELHPTLNADDQECKRNLSDIDQ
  SFNKVAERVLMRLQEKLKGVEEGTVLSVGGQVNLLIQQAIDPKNLSRLFPGWKAWV

• Structural information:
  • Protein Domains: FAT. (1960-2566)
    PI3K/PI4K. (2712-2962)
    FATC. (3024-3056)
  • Interpro: IPR016024  IPR015519  IPR003152  IPR011009  IPR000403   IPR036940  IPR018936  IPR003151  IPR014009  IPR021668  
  • Prosite: PS51189 PS51190 PS00915 PS00916 PS50290
  • PDB: 5NP0 5NP1
  • PDBsum: 5NP0 5NP1
  • DIP: 182
  • STRING: ENSP00000278616
• Other Databases: GeneCards:  ATM  Malacards:  ATM

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000724	double-strand break repair via homologous recombination	IEA	biological process
GO:0000729	DNA double-strand break processing	TAS	biological process
GO:0000731	DNA synthesis involved in DNA repair	TAS	biological process
GO:0000732	strand displacement	TAS	biological process
GO:0001666	response to hypoxia	IEA	biological process
GO:0001756	somitogenesis	IEA	biological process
GO:0002331	pre-B cell allelic exclusion	ISS	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0004674	protein serine/threonine kinase activity	IDA	molecular function
GO:0004674	protein serine/threonine kinase activity	IDA	molecular function
GO:0004674	protein serine/threonine kinase activity	IDA	molecular function
GO:0004674	protein serine/threonine kinase activity	TAS	molecular function
GO:0004674	protein serine/threonine kinase activity	TAS	molecular function
GO:0004674	protein serine/threonine kinase activity	TAS	molecular function
GO:0004674	protein serine/threonine kinase activity	TAS	molecular function
GO:0004674	protein serine/threonine kinase activity	TAS	molecular function
GO:0004674	protein serine/threonine kinase activity	TAS	molecular function
GO:0004674	protein serine/threonine kinase activity	TAS	molecular function
GO:0004674	protein serine/threonine kinase activity	TAS	molecular function
GO:0004674	protein serine/threonine kinase activity	TAS	molecular function
GO:0004674	protein serine/threonine kinase activity	TAS	molecular function
GO:0004674	protein serine/threonine kinase activity	TAS	molecular function
GO:0004674	protein serine/threonine kinase activity	TAS	molecular function
GO:0004674	protein serine/threonine kinase activity	TAS	molecular function
GO:0004674	protein serine/threonine kinase activity	TAS	molecular function
GO:0004674	protein serine/threonine kinase activity	TAS	molecular function
GO:0004674	protein serine/threonine kinase activity	TAS	molecular function
GO:0004674	protein serine/threonine kinase activity	TAS	molecular function
GO:0004674	protein serine/threonine kinase activity	TAS	molecular function
GO:0004674	protein serine/threonine kinase activity	TAS	molecular function
GO:0004674	protein serine/threonine kinase activity	TAS	molecular function
GO:0004674	protein serine/threonine kinase activity	TAS	molecular function
GO:0004674	protein serine/threonine kinase activity	TAS	molecular function
GO:0004674	protein serine/threonine kinase activity	TAS	molecular function
GO:0004677	DNA-dependent protein kinase activity	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0005634	nucleus	IBA	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005819	spindle	IEA	cellular component
GO:0006260	DNA replication	TAS	biological process
GO:0006260	DNA replication	TAS	biological process
GO:0006281	DNA repair	IBA	biological process
GO:0006303	double-strand break repair via nonhomologous end joining	TAS	biological process
GO:0006468	protein phosphorylation	IDA	biological process
GO:0006468	protein phosphorylation	IMP	biological process
GO:0006974	cellular response to DNA damage stimulus	IMP	biological process
GO:0006974	cellular response to DNA damage stimulus	IMP	biological process
GO:0006974	cellular response to DNA damage stimulus	IMP	biological process
GO:0006975	DNA damage induced protein phosphorylation	IDA	biological process
GO:0006977	DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest	TAS	biological process
GO:0007004	telomere maintenance via telomerase	IGI	biological process
GO:0007050	cell cycle arrest	IMP	biological process
GO:0007094	mitotic spindle assembly checkpoint	IMP	biological process
GO:0007131	reciprocal meiotic recombination	TAS	biological process
GO:0007165	signal transduction	TAS	biological process
GO:0007420	brain development	IEA	biological process
GO:0007507	heart development	IEA	biological process
GO:0008340	determination of adult lifespan	IEA	biological process
GO:0008630	intrinsic apoptotic signaling pathway in response to DNA damage	IEA	biological process
GO:0010212	response to ionizing radiation	IDA	biological process
GO:0010212	response to ionizing radiation	IDA	biological process
GO:0010506	regulation of autophagy	IMP	biological process
GO:0016303	1-phosphatidylinositol-3-kinase activity	IMP	molecular function
GO:0016572	histone phosphorylation	IEA	biological process
GO:0018105	peptidyl-serine phosphorylation	IDA	biological process
GO:0030889	negative regulation of B cell proliferation	IMP	biological process
GO:0032212	positive regulation of telomere maintenance via telomerase	ISS	biological process
GO:0032403	protein complex binding	IDA	molecular function
GO:0033129	positive regulation of histone phosphorylation	IEA	biological process
GO:0033151	V(D)J recombination	IEA	biological process
GO:0036092	phosphatidylinositol-3-phosphate biosynthetic process	IEA	biological process
GO:0036289	peptidyl-serine autophosphorylation	IMP	biological process
GO:0042159	lipoprotein catabolic process	IEA	biological process
GO:0042981	regulation of apoptotic process	TAS	biological process
GO:0043065	positive regulation of apoptotic process	IMP	biological process
GO:0043517	positive regulation of DNA damage response, signal transduction by p53 class mediator	IMP	biological process
GO:0043525	positive regulation of neuron apoptotic process	IEA	biological process
GO:0045141	meiotic telomere clustering	IEA	biological process
GO:0046777	protein autophosphorylation	IDA	biological process
GO:0046777	protein autophosphorylation	IDA	biological process
GO:0046983	protein dimerization activity	IDA	molecular function
GO:0047485	protein N-terminus binding	IDA	molecular function
GO:0048599	oocyte development	IEA	biological process
GO:0051402	neuron apoptotic process	IEA	biological process
GO:0071044	histone mRNA catabolic process	IDA	biological process
GO:0071480	cellular response to gamma radiation	IDA	biological process
GO:0071500	cellular response to nitrosative stress	IDA	biological process
GO:0072434	signal transduction involved in mitotic G2 DNA damage checkpoint	IMP	biological process
GO:0090399	replicative senescence	IMP	biological process
GO:0097694	establishment of RNA localization to telomere	IMP	biological process
GO:0097695	establishment of macromolecular complex localization to telomere	IC	biological process
GO:1900034	regulation of cellular response to heat	TAS	biological process
GO:1901796	regulation of signal transduction by p53 class mediator	TAS	biological process
GO:1904262	negative regulation of TORC1 signaling	IMP	biological process
GO:1904354	negative regulation of telomere capping	IMP	biological process
GO:1904358	positive regulation of telomere maintenance via telomere lengthening	IMP	biological process
GO:1904358	positive regulation of telomere maintenance via telomere lengthening	IMP	biological process
GO:1904884	positive regulation of telomerase catalytic core complex assembly	IMP	biological process
GO:1990391	DNA repair complex	IDA	cellular component
GO:0051972	regulation of telomerase activity	IMP	biological process
GO:0000781	chromosome, telomeric region	IDA	cellular component
GO:0000784	nuclear chromosome, telomeric region	IC	cellular component
GO:0000077	DNA damage checkpoint	IEA	biological process
GO:0000077	DNA damage checkpoint	IEA	biological process
GO:0000166	nucleotide binding	IEA	molecular function
GO:0000723	telomere maintenance	IEA	biological process
GO:0000724	double-strand break repair via homologous recombination	IEA	biological process
GO:0000729	DNA double-strand break processing	TAS	biological process
GO:0000731	DNA synthesis involved in DNA repair	TAS	biological process
GO:0000732	strand displacement	TAS	biological process
GO:0001666	response to hypoxia	IEA	biological process
GO:0001756	somitogenesis	IEA	biological process
GO:0002331	pre-B cell allelic exclusion	IEA	biological process
GO:0002331	pre-B cell allelic exclusion	ISS	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0004672	protein kinase activity	IEA	molecular function
GO:0004674	protein serine/threonine kinase activity	IEA	molecular function
GO:0004674	protein serine/threonine kinase activity	IEA	molecular function
GO:0004674	protein serine/threonine kinase activity	IDA	molecular function
GO:0004674	protein serine/threonine kinase activity	IDA	molecular function
GO:0004674	protein serine/threonine kinase activity	IDA	molecular function
GO:0004674	protein serine/threonine kinase activity	TAS	molecular function
GO:0004674	protein serine/threonine kinase activity	TAS	molecular function
GO:0004674	protein serine/threonine kinase activity	TAS	molecular function
GO:0004674	protein serine/threonine kinase activity	TAS	molecular function
GO:0004674	protein serine/threonine kinase activity	TAS	molecular function
GO:0004674	protein serine/threonine kinase activity	TAS	molecular function
GO:0004674	protein serine/threonine kinase activity	TAS	molecular function
GO:0004674	protein serine/threonine kinase activity	TAS	molecular function
GO:0004674	protein serine/threonine kinase activity	TAS	molecular function
GO:0004674	protein serine/threonine kinase activity	TAS	molecular function
GO:0004674	protein serine/threonine kinase activity	TAS	molecular function
GO:0004674	protein serine/threonine kinase activity	TAS	molecular function
GO:0004674	protein serine/threonine kinase activity	TAS	molecular function
GO:0004674	protein serine/threonine kinase activity	TAS	molecular function
GO:0004674	protein serine/threonine kinase activity	TAS	molecular function
GO:0004674	protein serine/threonine kinase activity	TAS	molecular function
GO:0004674	protein serine/threonine kinase activity	TAS	molecular function
GO:0004674	protein serine/threonine kinase activity	TAS	molecular function
GO:0004674	protein serine/threonine kinase activity	TAS	molecular function
GO:0004674	protein serine/threonine kinase activity	TAS	molecular function
GO:0004674	protein serine/threonine kinase activity	TAS	molecular function
GO:0004674	protein serine/threonine kinase activity	TAS	molecular function
GO:0004674	protein serine/threonine kinase activity	TAS	molecular function
GO:0004677	DNA-dependent protein kinase activity	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IBA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005819	spindle	IEA	cellular component
GO:0006260	DNA replication	TAS	biological process
GO:0006260	DNA replication	TAS	biological process
GO:0006281	DNA repair	IEA	biological process
GO:0006281	DNA repair	IEA	biological process
GO:0006281	DNA repair	IBA	biological process
GO:0006303	double-strand break repair via nonhomologous end joining	TAS	biological process
GO:0006468	protein phosphorylation	IEA	biological process
GO:0006468	protein phosphorylation	IDA	biological process
GO:0006468	protein phosphorylation	IMP	biological process
GO:0006915	apoptotic process	IEA	biological process
GO:0006974	cellular response to DNA damage stimulus	IEA	biological process
GO:0006974	cellular response to DNA damage stimulus	IEA	biological process
GO:0006974	cellular response to DNA damage stimulus	IEA	biological process
GO:0006974	cellular response to DNA damage stimulus	IMP	biological process
GO:0006974	cellular response to DNA damage stimulus	IMP	biological process
GO:0006974	cellular response to DNA damage stimulus	IMP	biological process
GO:0006975	DNA damage induced protein phosphorylation	IDA	biological process
GO:0006977	DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest	TAS	biological process
GO:0007004	telomere maintenance via telomerase	IGI	biological process
GO:0007049	cell cycle	IEA	biological process
GO:0007050	cell cycle arrest	IMP	biological process
GO:0007094	mitotic spindle assembly checkpoint	IMP	biological process
GO:0007131	reciprocal meiotic recombination	TAS	biological process
GO:0007165	signal transduction	TAS	biological process
GO:0007292	female gamete generation	IEA	biological process
GO:0007420	brain development	IEA	biological process
GO:0007507	heart development	IEA	biological process
GO:0008340	determination of adult lifespan	IEA	biological process
GO:0008630	intrinsic apoptotic signaling pathway in response to DNA damage	IEA	biological process
GO:0010212	response to ionizing radiation	IEA	biological process
GO:0010212	response to ionizing radiation	IEA	biological process
GO:0010212	response to ionizing radiation	IDA	biological process
GO:0010212	response to ionizing radiation	IDA	biological process
GO:0010506	regulation of autophagy	IMP	biological process
GO:0016301	kinase activity	IEA	molecular function
GO:0016301	kinase activity	IEA	molecular function
GO:0016303	1-phosphatidylinositol-3-kinase activity	IMP	molecular function
GO:0016310	phosphorylation	IEA	biological process
GO:0016572	histone phosphorylation	IEA	biological process
GO:0016740	transferase activity	IEA	molecular function
GO:0018105	peptidyl-serine phosphorylation	IDA	biological process
GO:0030889	negative regulation of B cell proliferation	IMP	biological process
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0032212	positive regulation of telomere maintenance via telomerase	IEA	biological process
GO:0032212	positive regulation of telomere maintenance via telomerase	ISS	biological process
GO:0032403	protein complex binding	IDA	molecular function
GO:0033129	positive regulation of histone phosphorylation	IEA	biological process
GO:0033151	V(D)J recombination	IEA	biological process
GO:0036092	phosphatidylinositol-3-phosphate biosynthetic process	IEA	biological process
GO:0036289	peptidyl-serine autophosphorylation	IMP	biological process
GO:0042159	lipoprotein catabolic process	IEA	biological process
GO:0042981	regulation of apoptotic process	TAS	biological process
GO:0043065	positive regulation of apoptotic process	IMP	biological process
GO:0043517	positive regulation of DNA damage response, signal transduction by p53 class mediator	IMP	biological process
GO:0043525	positive regulation of neuron apoptotic process	IEA	biological process
GO:0045141	meiotic telomere clustering	IEA	biological process
GO:0046777	protein autophosphorylation	IDA	biological process
GO:0046777	protein autophosphorylation	IDA	biological process
GO:0046983	protein dimerization activity	IDA	molecular function
GO:0047485	protein N-terminus binding	IDA	molecular function
GO:0048599	oocyte development	IEA	biological process
GO:0051402	neuron apoptotic process	IEA	biological process
GO:0051726	regulation of cell cycle	IEA	biological process
GO:0071044	histone mRNA catabolic process	IDA	biological process
GO:0071480	cellular response to gamma radiation	IDA	biological process
GO:0071500	cellular response to nitrosative stress	IDA	biological process
GO:0072434	signal transduction involved in mitotic G2 DNA damage checkpoint	IMP	biological process
GO:0090399	replicative senescence	IEA	biological process
GO:0090399	replicative senescence	IMP	biological process
GO:0097694	establishment of RNA localization to telomere	IMP	biological process
GO:0097695	establishment of macromolecular complex localization to telomere	IC	biological process
GO:1900034	regulation of cellular response to heat	TAS	biological process
GO:1901216	positive regulation of neuron death	IEA	biological process
GO:1901796	regulation of signal transduction by p53 class mediator	TAS	biological process
GO:1904262	negative regulation of TORC1 signaling	IMP	biological process
GO:1904354	negative regulation of telomere capping	IMP	biological process
GO:1904358	positive regulation of telomere maintenance via telomere lengthening	IMP	biological process
GO:1904358	positive regulation of telomere maintenance via telomere lengthening	IMP	biological process
GO:1904884	positive regulation of telomerase catalytic core complex assembly	IMP	biological process
GO:1990391	DNA repair complex	IDA	cellular component
GO:0051972	regulation of telomerase activity	IMP	biological process
GO:0000781	chromosome, telomeric region	IDA	cellular component
GO:0000784	nuclear chromosome, telomeric region	IC	cellular component
GO:0000729	DNA double-strand break processing	TAS	biological process
GO:0000731	DNA synthesis involved in DNA repair	TAS	biological process
GO:0000732	strand displacement	TAS	biological process
GO:0002331	pre-B cell allelic exclusion	ISS	biological process
GO:0004674	protein serine/threonine kinase activity	IDA	molecular function
GO:0004674	protein serine/threonine kinase activity	IDA	molecular function
GO:0004674	protein serine/threonine kinase activity	IDA	molecular function
GO:0004674	protein serine/threonine kinase activity	TAS	molecular function
GO:0004674	protein serine/threonine kinase activity	TAS	molecular function
GO:0004674	protein serine/threonine kinase activity	TAS	molecular function
GO:0004674	protein serine/threonine kinase activity	TAS	molecular function
GO:0004674	protein serine/threonine kinase activity	TAS	molecular function
GO:0004674	protein serine/threonine kinase activity	TAS	molecular function
GO:0004674	protein serine/threonine kinase activity	TAS	molecular function
GO:0004674	protein serine/threonine kinase activity	TAS	molecular function
GO:0004674	protein serine/threonine kinase activity	TAS	molecular function
GO:0004674	protein serine/threonine kinase activity	TAS	molecular function
GO:0004674	protein serine/threonine kinase activity	TAS	molecular function
GO:0004674	protein serine/threonine kinase activity	TAS	molecular function
GO:0004674	protein serine/threonine kinase activity	TAS	molecular function
GO:0004674	protein serine/threonine kinase activity	TAS	molecular function
GO:0004674	protein serine/threonine kinase activity	TAS	molecular function
GO:0004674	protein serine/threonine kinase activity	TAS	molecular function
GO:0004674	protein serine/threonine kinase activity	TAS	molecular function
GO:0004674	protein serine/threonine kinase activity	TAS	molecular function
GO:0004674	protein serine/threonine kinase activity	TAS	molecular function
GO:0004674	protein serine/threonine kinase activity	TAS	molecular function
GO:0004674	protein serine/threonine kinase activity	TAS	molecular function
GO:0004674	protein serine/threonine kinase activity	TAS	molecular function
GO:0004674	protein serine/threonine kinase activity	TAS	molecular function
GO:0004677	DNA-dependent protein kinase activity	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IBA	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0006260	DNA replication	TAS	biological process
GO:0006260	DNA replication	TAS	biological process
GO:0006281	DNA repair	IBA	biological process
GO:0006303	double-strand break repair via nonhomologous end joining	TAS	biological process
GO:0006468	protein phosphorylation	IDA	biological process
GO:0006468	protein phosphorylation	IMP	biological process
GO:0006974	cellular response to DNA damage stimulus	IMP	biological process
GO:0006974	cellular response to DNA damage stimulus	IMP	biological process
GO:0006974	cellular response to DNA damage stimulus	IMP	biological process
GO:0006975	DNA damage induced protein phosphorylation	IDA	biological process
GO:0006977	DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest	TAS	biological process
GO:0007004	telomere maintenance via telomerase	IGI	biological process
GO:0007050	cell cycle arrest	IMP	biological process
GO:0007094	mitotic spindle assembly checkpoint	IMP	biological process
GO:0007131	reciprocal meiotic recombination	TAS	biological process
GO:0007165	signal transduction	TAS	biological process
GO:0010212	response to ionizing radiation	IDA	biological process
GO:0010212	response to ionizing radiation	IDA	biological process
GO:0010506	regulation of autophagy	IMP	biological process
GO:0016303	1-phosphatidylinositol-3-kinase activity	IMP	molecular function
GO:0018105	peptidyl-serine phosphorylation	IDA	biological process
GO:0030889	negative regulation of B cell proliferation	IMP	biological process
GO:0032212	positive regulation of telomere maintenance via telomerase	ISS	biological process
GO:0032403	protein complex binding	IDA	molecular function
GO:0036289	peptidyl-serine autophosphorylation	IMP	biological process
GO:0042981	regulation of apoptotic process	TAS	biological process
GO:0043065	positive regulation of apoptotic process	IMP	biological process
GO:0043517	positive regulation of DNA damage response, signal transduction by p53 class mediator	IMP	biological process
GO:0046777	protein autophosphorylation	IDA	biological process
GO:0046777	protein autophosphorylation	IDA	biological process
GO:0046983	protein dimerization activity	IDA	molecular function
GO:0047485	protein N-terminus binding	IDA	molecular function
GO:0071044	histone mRNA catabolic process	IDA	biological process
GO:0071480	cellular response to gamma radiation	IDA	biological process
GO:0071500	cellular response to nitrosative stress	IDA	biological process
GO:0072434	signal transduction involved in mitotic G2 DNA damage checkpoint	IMP	biological process
GO:0090399	replicative senescence	IMP	biological process
GO:0097694	establishment of RNA localization to telomere	IMP	biological process
GO:0097695	establishment of macromolecular complex localization to telomere	IC	biological process
GO:1900034	regulation of cellular response to heat	TAS	biological process
GO:1901796	regulation of signal transduction by p53 class mediator	TAS	biological process
GO:1904262	negative regulation of TORC1 signaling	IMP	biological process
GO:1904354	negative regulation of telomere capping	IMP	biological process
GO:1904358	positive regulation of telomere maintenance via telomere lengthening	IMP	biological process
GO:1904358	positive regulation of telomere maintenance via telomere lengthening	IMP	biological process
GO:1904884	positive regulation of telomerase catalytic core complex assembly	IMP	biological process
GO:1990391	DNA repair complex	IDA	cellular component
GO:0051972	regulation of telomerase activity	IMP	biological process
GO:0000781	chromosome, telomeric region	IDA	cellular component
GO:0000784	nuclear chromosome, telomeric region	IC	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04068	FoxO signaling pathway
hsa04110	Cell cycle
hsa04210	Apoptosis
hsa04115	p53 signaling pathway
hsa04218	Cellular senescence
hsa05202	Transcriptional misregulation in cancer
hsa05206	MicroRNAs in cancer
hsa05166	Human T-cell leukemia virus 1 infection
hsa05170	Human immunodeficiency virus 1 infection
hsa05165	Human papillomavirus infection
hsa01524	Platinum drug resistance

Diseases

Associated diseases	References
Cancer	GAD: 12149228
Cancer (brain)	GAD: 20610542
Cancer (colorectal)	GAD: 16049814
Cancer (endometrial)	GAD: 17164260
Cancer (epithelial ovarian)	GAD: 19064572
Cancer (esophageal)	GAD: 20453000
Cancer (gastric)	GAD: 14706517
Cancer (lung)	GAD: 18451257
Cancer (lymphoma)	GAD: 19594747
Cancer (melanoma)	GAD: 21983787
Cancer (mouth)	GAD: 21108427
Leukemia	GAD: 14695997
Cancer (breast)	GAD: 12473176
Cancer (Breast)	OMIM: 607585
Lymphoma	OMIM: 607585
Cancer (Adenocarcinoma)	GAD: 19690177
Cancer (bladder)	GAD: 19692168
Cancer (large B-cell lymphoma)	GAD: 12149228
Cancer (leukemia)	GAD: 16167060
Cancer (ovarian)	GAD: 19584272
Cancer (Pancreatic ductal)	GAD: 18381943
Cancer (pancreatic)	GAD: 16520463
Cancer (Papilary)	GAD: 19286843
Cancer (prostate)	GAD: 15280931
Cancer (rectal)	GAD: 12827413
Chronic lymphocytic leukemia	KEGG: H00005
Hypertension	GAD: 11165203
Hodgkin disease	GAD: 14735203
Ataxia	GAD: 15164409
Schizophrenia	GAD: 19115993
Chronic renal failure	GAD: 21085059
Polycystic ovary syndrome (PCOS)	INFBASE: 24169251
Endometriosis	INFBASE: 25912412
Female infertility	INFBASE: 25912412
Non obstructive azoospermia	MIK: 23993922
Male factor infertility	MIK: 23993922
Endometriosis	INFBASE: 24571615
Female infertility	INFBASE: 24571615
Chronic obstructive pulmonary disease (COPD)	GAD: 19625176
Subcutaneous fibrosis	GAD: 16966185
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Associated with spermatogenesis and epigenetic regulation	MIK: 21674046
Idiopathic nonobstructiveazoospermia	MIK: 23993922
Idiopathic nonobstructive azoospermia (INOA)	MIK: 23993922
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
23993922	Idiopathic nonobstructive azoospermia (INOA)	rs189037(G>A)		465 (229 INOA patients, 236 fertile male controls)	Male infertility	ATM gene promoter E2F1
23993922	Idiopathic nonobstructiveazoospermia	rs189037(G>A) in ATM	Chinese	465 (229 INOA, 236 fertile male controls)	Male infertility
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray