LOCUS AH009222 4765 bp DNA linear HUM 10-JUN-2016 DEFINITION Homo sapiens chromosome 19 DLL3 protein precursor (DLL3) gene, complete cds. ACCESSION AH009222 AF241367 AF241368 AF241369 AF241370 AF241371 AF241372 AF241373 VERSION AH009222.2 KEYWORDS . SOURCE Homo sapiens (human) ORGANISM Homo sapiens Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo. REFERENCE 1 (bases 1 to 4765) AUTHORS Bulman,M.P., Kusumi,K., Frayling,T.M., McKeown,C., Garrett,C., Lander,E.S., Krumlauf,R., Hattersley,A.T., Ellard,S. and Turnpenny,P.D. TITLE Mutations in the human delta homologue, DLL3, cause axial skeletal defects in spondylocostal dysostosis JOURNAL Nat. Genet. 24 (4), 438-441 (2000) PUBMED 10742114 REFERENCE 2 (bases 1 to 4765) AUTHORS Kusumi,K. TITLE Direct Submission JOURNAL Submitted (02-MAR-2000) Division of Developmental Neurobiology, National Institute for Medical Research, The Ridgeway, Mill Hill, London NW7 1AA, United Kingdom COMMENT On or before Jun 10, 2016 this sequence version replaced AF241367.1, AF241368.1, AF241369.1, AF241370.1, AF241371.1, AF241372.1, AF241373.1, AH009222.1. FEATURES Location/Qualifiers source 1..4765 /organism="Homo sapiens" /mol_type="genomic DNA" /db_xref="taxon:9606" /chromosome="19" /map="19q13" gene <1..4422 /gene="DLL3" variation 200 /gene="DLL3" /note="polymorphism" /replace="g" mRNA join(<307..382,531..812,1318..1375,1703..1945,2193..2410, 2725..2947,3266..3845,4132..4422) /gene="DLL3" /product="DLL3 protein precursor" exon <307..382 /gene="DLL3" /number=2 5'UTR <307..313 /gene="DLL3" CDS join(314..382,531..812,1318..1375,1703..1945,2193..2410, 2725..2947,3266..3845,4132..4315) /gene="DLL3" /note="delta-like 3 protein precursor" /codon_start=1 /product="DLL3 protein precursor" /protein_id="AAF62542.1" /translation="MVSPRMSGLLSQTVILALIFLPQTRPAGVFELQIHSFGPGPGPG APRSPCSARLPCRLFFRVCLKPGLSEEAAESPCALGAALSARGPVYTEQPGAPAPDLP LPDGLLQVPFRDAWPGTFSFIIETWREELGDQIGGPAWSLLARVAGRRRLAAGGPWAR DIQRAGAWELRFSYRARCEPPAVGTACTRLCRPRSAPSRCGPGLRPCAPLEDECEAPL VCRAGCSPEHGFCEQPGECRCLEGWTGPLCTVPVSTSSCLSPRGPSSATTGCLVPGPG PCDGNPCANGGSCSETPRSFECTCPRGFYGLRCEVSGVTCADGPCFNGGLCVGGADPD SAYICHCPPGFQGSNCEKRVDRCSLQPCRNGGLCLDLGHALRCRCRAGFAGPRCEHDL DDCAGRACANGGTCVEGGGAHRCSCALGFGGRDCRERADPCAARPCAHGGRCYAHFSG LVCACAPGYMGARCEFPVHPDGASALPAAPPGLRPGDPQRYLLPPALGLLVAAGVAGA ALLLVHVRRRGHSQDAGSRLLAGTPEPSVHALPDALNNLRTQEGSGDGPSSSVDWNRP EDVDPQGIYVISAPSIYAREVATPLFPPLHTGRAGQRQHLLFPYPSSILSVK" sig_peptide join(314..382,531..770) /gene="DLL3" misc_feature 1819..1938 /gene="DLL3" /note="Region: DSL domain" misc_feature join(1939..1945,2193..2293) /gene="DLL3" /note="Region: EGF repeat 1" misc_feature 2294..2371 /gene="DLL3" /note="Region: EGF repeat 2" misc_feature join(2372..2410,2725..2799) /gene="DLL3" /note="Region: EGF repeat 3" misc_feature 2800..2922 /gene="DLL3" /note="Region: EGF repeat 4" misc_feature join(2923..2947,3266..3354) /gene="DLL3" /note="Region: EGF repeat 5" misc_feature 3355..3483 /gene="DLL3" /note="Region: EGF repeat 6" misc_feature 3484..3582 /gene="DLL3" /note="Region: EGF repeat 7" misc_feature 3643..3735 /gene="DLL3" /note="Region: transmembrane domain" exon 531..812 /gene="DLL3" /number=3 gap 1190..1289 /estimated_length=unknown exon 1318..1375 /gene="DLL3" /number=4 gap 1496..1595 /estimated_length=unknown exon 1703..1945 /gene="DLL3" /number=5 variation 1838 /gene="DLL3" /note="synonymous substitution" /replace="g" variation 1888^1889 /gene="DLL3" /note="DLL3 593insGCGGT, S198ins5, pedigree SD1; results in frameshift with 39 new amino acids then premature truncation" /phenotype="spondylocostal dysostosis" /replace="gcggt" gap 2006..2105 /estimated_length=unknown exon 2193..2410 /gene="DLL3" /number=6 gap 2516..2615 /estimated_length=unknown exon 2725..2947 /gene="DLL3" /number=7 variation 2799..2800 /gene="DLL3" /note="945delAT, T315C316del2, pedigree SD2; results in frameshift with 16 novel amino acids then premature truncation" /phenotype="spondylocostal dysostosis" /replace="" variation 2883 /gene="DLL3" /note="synonymous substitution" /replace="c" gap 3106..3205 /estimated_length=unknown exon 3266..3845 /gene="DLL3" /number=8 variation 3326 /gene="DLL3" /note="missense mutation, G385D, pedigree SD3; results in substitution of glycine with asparatic acid in EGF repeat 5" /phenotype="spondylocostal dysostosis" /replace="a" gap 3945..4044 /estimated_length=unknown exon 4132..4422 /gene="DLL3" /note="exon 9+10; homologous to mouse Dll3 exon 9, intervening intron, and exon 10" /number=9 3'UTR 4316..4422 /gene="DLL3" BASE COUNT 663 a 1398 c 1214 g 890 t ORIGIN 1 tggttcatac cacacacaca aaatcttaaa atcatgtaca acctcacaca caggcttagc 61 cccctaaccc caccccaccc tagccacaca aaaagtcgcg ggatcaccca cgcatgacct 121 cgctcgtgcc cacgaccaca gacggaatct cgctgttgct cctgcacgct ccccctcccc 181 tgtgaccgcc ccccccgccc cgcccttggt cccttggggc cgggtagctg cctgaagggg 241 cggggccatt ctctcagata taaggcttgg aagccagcag ctgcgactcc cgagaccccc 301 ccaccagaag gccatggtct ccccacggat gtccgggctc ctctcccaga ctgtgatcct 361 agcgctcatt ttcctccccc aggtcagagc caggtgggag gtggcgtgga aagggatgaa 421 tgcggagggg aggggtgagt gcgacctgaa ggtcctgggg aaggagcgtg gggcggacgg 481 gaagcctggg tcctcccggc cgcctcaccc tgcgcccgtc tccgtcccag acacggcccg 541 ctggcgtctt cgagctgcag atccactctt tcgggccggg tccaggccct ggggccccgc 601 ggtccccctg cagcgcccgg ctcccctgcc gcctcttctt cagagtctgc ctgaagcctg 661 ggctctcaga ggaggccgcc gagtccccgt gcgccctggg cgcggcgctg agtgcgcgcg 721 gaccggtcta caccgagcag cccggagcgc ccgcgcctga tctcccactg cccgacgggc 781 tcttgcaggt gcccttccgg gacgcctggc ctgtaagtgc tgcccccggg ggactcccgg 841 tgctggaggc ctaaccctgc cagcgaaacc tccacctcct ctcccctcca gcttccaaga 901 ccctaatcct gcctcccagg gggtggacga aattcccaga ccactaactc taccgtctgg 961 aaccccacat tcacagacct ctaaactcta cacactgggg attctaaatg ttctgattcc 1021 ccaaccctgg atgctgggac cccaaattcc cagaatttca aacccaagct ctgaaatcct 1081 aaactcaagg aaccctacct ctgctccttg gggatcccta aaaactgtgg tcctcatctt 1141 tatccccaaa cctctcacac cttgtcttgg ggaccactaa tatcttctcn nnnnnnnnnn 1201 nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn 1261 nnnnnnnnnn nnnnnnnnnn nnnnnnnnnt tcatctcccc ttccttcacc caaccagggc 1321 accttctctt tcatcatcga aacctggaga gaggagttag gagaccagat tggaggtgag 1381 tgtcttcagt cttgggactg gtggggagct ggggcccacg tgagacacgg ggttggtggt 1441 gttatctata ggtcttatga tgtcatcaca gctcctggga tgtggtgctg agtgtnnnnn 1501 nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn 1561 nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnntgttt ggcctcgctg ggaggggcgg 1621 ggagaatgcg gccggggcgc tccgtatgca tccatgttcg gccgggccca ccccagcacc 1681 cctcctttgc ctgtcctcgc agggcccgcc tggagcctgc tggcgcgcgt ggctggcagg 1741 cggcgcttgg cagccggagg cccgtgggcc cgggacattc agcgcgcagg cgcctgggag 1801 ctgcgcttct cgtaccgcgc gcgctgcgag ccgcctgccg tcgggaccgc gtgcacgcgc 1861 ctctgccgtc cgcgcagcgc cccctcgcgg tgcggtccgg gactgcgccc ctgcgcaccg 1921 ctcgaggacg aatgtgaggc gccgcgtgag tcctgcgttc gaccccaccc cgtcccagcc 1981 ggggaccccg gcccctcctg agcgtnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn 2041 nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn 2101 nnnnngctca gaaacctccc tgctttccat cttgtccctg gccctccccg acgttggtgt 2161 tccctttctc tctgcctctc tgtcccccat agtggtgtgc cgagcaggct gcagccctga 2221 gcatggcttc tgtgaacagc ccggtgaatg ccgatgccta gagggctgga ctggacccct 2281 ctgcacggtc cctgtctcca ccagcagctg cctcagcccc aggggcccgt cctctgctac 2341 caccggatgc cttgtccctg ggcctgggcc ctgtgacggg aacccgtgtg ccaatggagg 2401 cagctgtagt gtcagtgtca cccttcccac cttgtcctgc ttagtacttt accctgggag 2461 ccacagccct ctccctgggg ctccatgaga caccagcctg gggaggagat ctgggnnnnn 2521 nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn 2581 nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnntggga cttgagactg gacaaggagc 2641 agcccccagt ggttaggact gaggaggggg atgggatttt tctccaagga aacacccttc 2701 tcaagtactc ttgtccctgc ccaggagaca cccaggtcct ttgaatgcac ctgcccgcgt 2761 gggttctacg ggctgcggtg tgaggtgagc ggggtgacat gtgcagatgg accctgcttc 2821 aacggcggct tgtgtgtcgg gggtgcagac cctgactctg cctacatctg ccactgccca 2881 cctggtttcc aaggctccaa ctgtgagaag agggtggacc ggtgcagcct gcagccatgc 2941 cgcaatggtg aggcctggag gcctgaacgg cgagggatgg ggtgggggtc ctggatggct 3001 cagacagtcc agggttggaa tcctggcttt gactcttcta accctagggc ctggggacct 3061 gaccttccac ctgcaagcct gtaaaatggg caaggagaca ttcccnnnnn nnnnnnnnnn 3121 nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn 3181 nnnnnnnnnn nnnnnnnnnn nnnnnagcgc ggcaggtggg tccccggctc ccggactgcg 3241 ccctctgatg ctcccttccc cacaggcgga ctctgcctgg acctgggcca cgccctgcgc 3301 tgccgctgcc gcgccggctt cgcgggtcct cgctgcgagc acgacctgga cgactgcgcg 3361 ggccgcgcct gcgctaacgg cggcacgtgt gtggagggcg gcggcgcgca ccgctgctcc 3421 tgcgcgctgg gcttcggcgg ccgcgactgc cgcgagcgcg cggacccgtg cgccgcgcgc 3481 ccctgtgctc acggcggccg ctgctacgcc cacttctccg gcctcgtctg cgcttgcgct 3541 cccggctaca tgggagcgcg gtgtgagttc ccagtgcacc ccgacggcgc aagcgccttg 3601 cccgcggccc cgccgggcct caggcccggg gaccctcagc gctacctttt gcctccggct 3661 ctgggactgc tcgtggccgc gggcgtggcc ggcgctgcgc tcttgctggt ccacgtgcgc 3721 cgccgtggcc actcccagga tgctgggtct cgcttgctgg ctgggacccc ggagccgtca 3781 gtccacgcac tcccggatgc actcaacaac ctaaggacgc aggagggttc cggggatggt 3841 ccgaggtgag gggctgcgcc acagacgaac gccttgcgct gctggctgct tttacccatc 3901 tccgtggtgc agttggcccg attccttgat gcatttccct ggtcnnnnnn nnnnnnnnnn 3961 nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn 4021 nnnnnnnnnn nnnnnnnnnn nnnntttggg ttcccctttg tgatgggtag gggaaaacaa 4081 gatctgagaa tttaaagagt ctgagttttt cttctttctc tcctcccaca gctcgtccgt 4141 agattggaat cgccctgaag atgtagaccc tcaagggatt tatgtcatat ctgctccttc 4201 catctacgct cgggaggtag cgacgcccct tttccccccg ctacacactg ggcgcgctgg 4261 gcagaggcag cacctgcttt ttccctaccc ttcctcgatt ctgtccgtga aatgaattgg 4321 gtagagtctc tggaaggttt taagcccatt ttcagttcta acttactttc atcctatttt 4381 gcatccctct tatcgttttg agctacctgc catcttctct ttgaaaaacc tatgggcttg 4441 aggaggtcac gatgccgact ccgccagagc ttttccactg attgtactca gcggggaggc 4501 aggggaggca gaggggcagc ctctctaatg cttcctactc attttgtttc taggcctgac 4561 gcgtctcctc catccgcacc tggagtcaga gcgtggattt ttgtatttgc tcggtggtgc 4621 ccagtctctg ccccagaggc tttggagttc aatcttgaag gggtgtctgg gggaacttta 4681 ctgttgcaag ttgtaaataa tggttattta tatcctattt tttctcaccc catctctcta 4741 gaaacaccta taaaggctat tattg //