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Noonan, Ph.D - Yale School of Medicine, New Haven, CT, USA","Funding Source - R01 GM094780 - National Institutes of Health, Bethesda, MD, USA"],"repository":["dbGaP"],"description_synonyms":["type 2, 11alpha, PP14, Disorders, Materials, l(3)05592, Activity, methionine aminopeptidase activity, autism (disease), TalANAc, Kanner's Syndrome, DEIH-BOX RNA/DNA HELICASE, mKIAA1564, Ras guanyl-nucleotide exchange factor activity, extremity, ter, dmTAF[[II]]230, Relative, DmelCG1007, childhood autism, 2, synganglion, infantile autism, OpT1, Chromatins, peptidase M activity, adenomas, Extremitaet, Autisms, rabGAPLP, L-methionine aminopeptidase activity, Sar guanyl-nucleotide exchange factor activity, Gene Expressions, TFIID TAF250, cel, Early Infantile Autism, extremities, RabGAP-5, suprasegmental levels of nervous system, Epigenomic, 13E, Ach, RUSC3, Bsg75C, chromosome scaffold, GOV, l(3)61Da, Autism, RhoGEF, PAEG, associated, limb sensu Vertebrata, nuclear chromatin, dTAF[[II]]230, suprasegmental structures, neocortex development, D2-2, PubMed, gov, MYH-associated polyposis, autosomal recessive familial adenomatous polyposis, TAF200, Maps, 5830451P18Rik, Infantile, TAFII-250, Emc, TAF250/230, 2-(acetylamino)-2-deoxy-, girdle plus limb or fin, CG1007, Fsrg1, Binding, Rho guanyl-nucleotide exchange factor activity, TAFII250, Autistic Disorder, RING3, Term, Relative Risks, FSRG1, opt, Genetic Materials, Early, cortex of organ, Genetic Material, autosomal recessive, 0977/09, MUTYH-associated polyposis, MUTYH-related AFAP, RUTBC3, Risk, Epigenetic, Encephalon, INSDC_feature:gene, 15S)-, CG17603, AUTS18, TAF[[II]], Ran guanyl-nucleotide exchange factor activity, human, GD, RABGAP5, GdA, 0587/01, GdF, Taf250, Material, SR3-5, (5Z, multiple colorectal, Autistic disorder of childhood onset (disorder), MUTYH-related attenuated familial polyposis coli, Cistron, disease characteristic, GdS, Epigenetics, PEP, Fsrg-1, Duplin, TAF230, guanyl-nucleotide releasing factor, the brain, NAT, Nat, AU015341, cytoplasmic chromatin, d230, human being, F12K11.4, D17H6S113E, alpha-L-Talopyranuronic acid, Gene, dTAFII250, alpha-L-N-acetyltalosaminuronic acid, GDS, FSH, EfW1, ARF guanyl-nucleotide exchange factor activity, Infantile autism (disorder), GEF, dmTAF1, Taf230, INSDC_qualifier:promoter, nuclear DEIH-boxhelicase, Sites, Infantile Autism, F12K11_4, Early Infantile, qualifier, susceptiblity to, INSDC_qualifier:enhancer, familial adenomatous polyposis, MAP, cAMP-dependent guanyl-nucleotide exchange factor activity, Yin, TAF250, Site, Kanner Syndrome, l(3)04322, study, Taf200, GNRP, dTAF[[II]]250, Genetic, cell, familial adenomatous polyposis 2, pentadactyl limb, Taf1p, Sciences, Ring3, CG2913, l(3)j4E11, man, Expressions, autosomal recessive multiple colorectal adenomas, HELSNF1, dTAF250, corticogenesis, Ral guanyl-nucleotide exchange factor activity, Combining Site, DmelCG4216, Kanner's, appendage complex, Disorder, guanyl-nucleotide release factor activity, Syndrome, Expression, TAF, Combining Sites, promoter sequence, PubMed., MUTYH-related attenuated familial adenomatous polyposis, RAD3D, TAF[[II]]250, modifier, MUTYH-Associated Polyposis, EG:EG0002.1, Dm0688, flipper, l(3)84Ab, bHLHb28, BG:DS00004.13, Binding Site, Rab guanyl-nucleotide exchange factor activity, Qualifier, Cistrons, encephalon, autism spectrum disorder, Cell, cortex, dTAF230, appendage/girdle complex, free limb, p230, MUTYH-related attenuated FAP, AW228947, Kanners Syndrome, TAF[[II]]250/230, sequence, TFIID, Infantile psychosis (disorder), mKIAA4005, Rap guanyl-nucleotide exchange factor activity, Rho guanine nucleotide exchange factor, GDP-dissociation stimulator activity, INSDC_feature:regulatory, Relative Risk, disease qualifier, Embryonic, Taf[[II]]250, D6S113E, autistic disorder, TAF[[II]]230, Rnf3, RNF3, 0203/10, Kanner's syndrome, Risks, Frg-1, ms(3)61CD, Autistic, CG4216, Combining, TAF[II]250, MYH-Associated Polyposis, OPT1, Modifier, primary structure of sequence macromolecule, limb, Rac guanyl-nucleotide exchange factor activity, DmelCG17603, appendage-girdle complex, autistic disorder of childhood onset, opt1, DmelCG2913, autism, MAP syndrome, tetrapod limb, 0094/26, RAB16, General activity, alpha-L-2-N-acetylamino-2-desoxytaluronic acid, FAP2, colorectal adenomatous polyposis, TAF1"],"additional_accession":[]},"is_claimable":false,"name":"Regulatory Genomics of Human Embryonic Development","description":"
We used epigenetic profiling to map active enhancers in the developing human limb and cortex as described in two published studies:
We also used ChIP-seq to map binding sites for the chromatin modifier CHD8 in the developing human brain, as described in one published study:
We are also depositing primary human sequence reads related to processed datasets in the Gene Expression Omnibus under the following accession numbers: GSE42413 (Cotney et al. 2013); GSE63649 (Reilly et al. 2015); GSE57369 (Cotney et al. 2015).
","dates":{"last_modification":"2016-10-12","creation":"2016-10-12"},"accession":"phs001226","cross_references":{"MESH":["Extremities"],"PMID":["25752243","23827682","25745175"]}}