LOCUS AF084479 6043 bp mRNA linear HUM 21-JAN-1999 DEFINITION Homo sapiens Williams-Beuren syndrome deletion transcript 9 (WBSCR9) mRNA, complete cds. ACCESSION AF084479 VERSION AF084479.1 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 6043) AUTHORS Peoples,R.J., Cisco,M.J., Kaplan,P. and Francke,U. TITLE Identification of the WBSCR9 gene, encoding a novel transcriptional regulator, in the Williams-Beuren syndrome deletion at 7q11.23 JOURNAL Cytogenet. Cell Genet. 82 (3-4), 238-246 (1998) PUBMED 9858827 REFERENCE 2 (bases 1 to 6043) AUTHORS Peoples,R.J., Cisco,M.J., Kaplan,P. and Francke,U. TITLE Direct Submission JOURNAL Submitted (17-AUG-1998) HHMI, Stanford University School of Medicine, 300 Pasteur Drive, Stanford, CA 94305-5323, USA FEATURES Location/Qualifiers source 1..6043 /db_xref="H-InvDB:HIT000066626" /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="7" /map="7q11.23; between FZD3 and ELN" gene 1..6043 /gene="WBSCR9" CDS 285..4736 /gene="WBSCR9" /note="presumptive transcriptional regulator; contains a bromodomain and a PHD finger motif" /codon_start=1 /product="Williams-Beuren syndrome deletion transcript 9" /protein_id="AAD08675.1" /translation="MAPLLGRKPFPLVKPLPGEEPLFTIPHTQEAFRTREEYEARLER YSERIWTCKSTGSSQLTHKEAWEEEQEVAELLKEEFPAWYEKLVLEMVHHNTASLEKL VDTAWLEIMTKYAVGEECDFEVGKEKMLKVKIVEIHPLEKVDEEATEKKSDGACDSPS SDKENSSQIAQDHQKKETVVKEDEGRRESINDRARRSPRKLPTSLKKGERKWAPPKFL PHKYDVKLQNEDKIISNVPADSLIRTERPPNKEIVRYFIRHNALRAGTGENAPWVVED ELVKKYSLPSKFSDFLLDPYKYMTLNPSTKRKNTGSPDRKPSKKSKTDNSSLSSPLNP KLWCHVHLKKSLSGSPLKVKNSKNSKSPEEHLEEMMKMMSPNKLHTNFHIPKKGPPAK KPGKHSDKPLKAKGRSKGILNGQKSTGNSKSPKKGLKTPKTKMKQMTLLDMAKGTQKM TRAPRNSGGTPRTSSKPHKHLPPAALHLIAYYKENKDREDKRSALSCVISKTARLLSS EDRARLPEELRSLVQKRYELLEHKKRWASMSEEQRKEYLKKKREELKKKLKEKAKERR EKEMLERLEKQKRYEDQELTGKNLPAFRLVDTPEGLPNTLFGDVAMVVEFLSCYSGLL LPDAQYPITAVSLMEALSADKGGFLYLNRVLVILLQTLLQDEIAEDYGELGMKLSEIP LTLHSVSELVRLCLRRSDVQEESEGSDTDDNKDSAAFEDNEVQDEFLEKLETSEFFEL TSEEKLQILTALCHRILMTYSVQDHMETRQQMSAELWKERLAVLKEENDKKRAEKQKR KEMEAKNKENGKVENGLGKTDRKKEIVKFEPQVDTEAEDMISAVKSRRLLAIQAKKER EIQEREMKVKLERQAEEERIRKHKAAAEKAFQEGIAKAKLVMRRTPIGTDRNHNRYWL FSDEVPGLFIEKGWVHDSIDYRFNHHCKDHTVSGDEDYCPRSKKANLGKNASMNTQHG TATEVAVETTTPKQGQNLWFLCDSQKELDELLNCLHPQGIRESQLKERLEKRYQDIIH SIHLARKPNLGLKSCDGNQELLNFLRSDLIEVATRLQKGGLGYVEETSEFEARVISLE KLKDFGECVIALQASVIKKFLQGFMAPKQKRRKLQSEDSAKTEEVDEEKKMVEEAKVA SALEKWKTAIREAQTFSRMHVLLGMLDACIKWDMSAENARCKVCRKKGEDDKLILCDE CNKAFHLFCLRPALYEVPDGEWQCPACQPATARRNSRGRNYTEESASEDSEDDESDEE EEEEEEEEEEEDYEVAGLRLRPRKTIRGKHSVIPPAARSGRRPGKKPHSTRRSQPKAP PVDDAEVDELVLQTKRSSRRQSLELQKCEEILHKIVKYRFSWPFREPVTRDEAEDYYD VITHPMDFQTVQNKCSCGSYRSVQEFLTDMKQVFTNAEVYNCRGSHVLSCMVKTEQCL VALLHKHLPGHPYVRRKRKKFPDRLAEDEGDSEPEAVGQSRGRRQKK" BASE COUNT 1803 a 1319 c 1559 g 1353 t ORIGIN 1 tgangagrag tcgtgactgc cggccgccgg gaccgaagcg gnngtcggcg gggggctgct 61 gggangcgcg gcggtgtgcg cgggaactct gcgccgtggc gttccgctcc atgactgtcg 121 cgcggccgcg ccggcggtga gggagccgga gttcgcgccg ccctctcacc cctcccttcc 181 cccaccccac ccccgggcgc ctggcgctcg ctccgggccg cggggcctan tgctgcgccg 241 cggggccggc cccagcagcc gccagtccca ccgccgccgc cgcgatggcg ccgctcctgg 301 gccgcaagcc cttcccgctg gtgaagccgt tgcccggaga ggagccgctc ttcaccatcc 361 cgcacactca ggaggccttc cgcacccggg aagagtatga agcccgcttg gaaaggtaca 421 gtgagcgcat ttggacgtgc aagagtactg gaagcagtca gctaacacac aaggaagcct 481 gggaggaaga acaggaagtt gctgagcttt tgaaggagga gtttcctgcc tggtatgaga 541 agcttgttct ggaaatggtt caccataaca cagcctcctt agagaagtta gtagatactg 601 cttggttgga gatcatgacc aaatatgctg tgggagaaga gtgtgacttc gaggttggga 661 aggagaaaat gctcaaggtg aagattgtgg agattcatcc tttggagaaa gtggatgaag 721 aggccactga gaagaaatct gatggtgcct gtgattctcc atcaagtgac aaagagaact 781 ccagtcagat tgctcaggac catcagaaga aggagacagt tgtgaaagag gatgaaggaa 841 ggagagagag tattaatgac agagcacgta gatcgccacg aaaacttcct acttcattaa 901 aaaaaggaga aaggaaatgg gctcctccaa aatttctgcc tcacaaatat gatgtgaaac 961 tacaaaatga agataagatc atcagtaacg tgccagcaga cagcttgatt cgtacagagc 1021 gcccaccaaa taaggagata gttcgatact ttatacggca taatgcatta cgagctggta 1081 ctggtgaaaa tgcaccttgg gtcgtagaag atgaattggt gaagaaatac tctctgccca 1141 gcaagttcag tgacttttta cttgatccat acaagtatat gactctcaac ccttctacta 1201 agaggaagaa tactggatcc ccagacagga agccctcaaa gaaatccaag acagacaact 1261 cttctcttag ttcaccacta aatcctaagt tatggtgtca cgtacacttg aagaagtcat 1321 tgagtggctc gccactcaaa gtgaagaact caaagaattc caaatctcct gaagaacatc 1381 tagaagaaat gatgaagatg atgtcgccca ataagctgca cactaacttt cacattccta 1441 aaaaaggccc acctgccaag aaaccaggga agcacagtga caagcctttg aaggcaaagg 1501 gcagaagcaa aggcatcctg aatggacaga aatccacagg gaattccaaa tctcccaaaa 1561 aaggactgaa gactcctaaa accaaaatga agcagatgac tttgttggat atggccaaag 1621 gcacgcagaa gatgacacga gccccacgga attctggggg tacacctagg acctctagta 1681 aacctcataa acatctgcct cctgcagccc tacacctcat tgcatactac aaagaaaaca 1741 aagacaggga ggacaagagg agcgccctgt cctgtgttat ctccaaaaca gctcgtcttc 1801 tctctagtga agatagagct cgtctcccag aagaattgcg aagtcttgtt caaaaacgct 1861 atgaacttct agagcacaaa aagaggtggg cttctatgtc tgaagaacaa cggaaagaat 1921 atttgaaaaa gaaacgggag gagctgaaaa agaagttgaa ggaaaaagcc aaagaacgaa 1981 gagagaaaga aatgcttgag agattagaaa aacagaagcg gtatgaggac caagagttaa 2041 ctggcaaaaa ccttccagca ttcagattgg tggatacccc tgaagggctg cccaacacgc 2101 tgtttgggga tgtggccatg gtggtggaat tcttgagctg ttattctggg ctacttttac 2161 cagatgctca gtatcctatt actgctgtgt cccttatgga agccttgagt gcagataagg 2221 gtggcttttt ataccttaac agggtgttgg tcatcctctt acagaccctc ctacaagatg 2281 agatagcaga agactatggt gaattgggaa tgaagctgtc ggaaatcccc ttgactctgc 2341 attctgtttc agagctggtg cggctctgct tgcgcagatc tgatgttcag gaggaaagcg 2401 agggctcaga cacagatgac aataaagatt cagctgcatt tgaggataat gaggtacaag 2461 atgagttcct agaaaagctg gagacctctg aattttttga gctgacgtca gaggagaagc 2521 tacagatctt gacagcactg tgccaccgga tcctcatgac atactcagtg caagaccaca 2581 tggagaccag acagcagatg tctgcagagt tgtggaagga acggcttgct gtgttgaagg 2641 aagaaaatga taagaagaga gcagagaaac agaaacggaa agaaatggaa gccaaaaata 2701 aagaaaatgg aaaagttgag aatgggttag gcaaaactga taggaaaaaa gaaattgtga 2761 agtttgagcc ccaagtagat acagaagctg aagacatgat tagtgctgtg aagagcagaa 2821 ggttgcttgc cattcaagct aagaaggaac gggaaatcca ggaaagagaa atgaaagtga 2881 aactggaacg ccaagctgaa gaagaacgaa tacggaagca caaagcagct gctgagaaag 2941 ctttccagga agggattgcc aaggccaaac tagtcatgcg caggactcct attggcacag 3001 atcgaaacca taatagatac tggctcttct cagatgaagt tccaggatta ttcattgaaa 3061 aaggctgggt acatgacagc attgactacc gattcaacca tcactgcaaa gaccacacag 3121 tctctggtga tgaggattac tgtcctcgca gtaagaaagc aaacttaggt aaaaatgcaa 3181 gcatgaacac acaacatgga acagcaacag aagttgctgt agagacaacc acacccaaac 3241 aaggacagaa cctatggttt ttatgtgata gtcaaaagga gctggatgag ttgctaaact 3301 gtcttcaccc tcagggaata agagaaagtc aacttaaaga gagactagag aagaggtacc 3361 aggacattat tcactctatt catctagcac ggaagccaaa tttgggtcta aaatcttgtg 3421 atggcaacca ggagctttta aacttccttc gtagtgatct cattgaagtt gcaacaaggt 3481 tacaaaaagg aggacttgga tatgtggaag aaacatcaga atttgaagcc cgggtcattt 3541 cattagagaa attgaaggat tttggtgagt gtgtgattgc ccttcaggcc agtgtcataa 3601 agaaatttct ccaaggcttc atggctccca agcaaaagag aagaaaactc caaagtgaag 3661 attcagcaaa aactgaggaa gtggatgaag agaagaaaat ggtagaggaa gcaaaggttg 3721 catctgcact ggagaaatgg aagacagcaa tccgggaagc tcagactttc tccaggatgc 3781 acgtgctgct tgggatgctt gatgcctgta tcaagtggga tatgtccgca gaaaatgcta 3841 ggtgcaaagt ttgtcgaaag aaaggtgagg atgacaaatt gatcttatgt gatgagtgta 3901 ataaagcctt ccacctgttt tgtctgaggc cggccctcta tgaagtacca gatggtgagt 3961 ggcagtgccc agcttgccag cccgctactg ccaggcgcaa ctcccgtggc aggaactata 4021 ctgaagagtc tgcttctgag gacagtgaag atgatgagag tgatgaagag gaggaggagg 4081 aagaagagga ggaggaggaa gaagattatg aggtggctgg tttgcgattg agacctcgaa 4141 agaccatccg gggcaagcac agcgtcatcc cccctgcagc aaggtcaggc cggcgcccgg 4201 gtaagaagcc acactctacc aggaggtctc agcccaaggc accacctgtg gatgatgctg 4261 aggtggatga gctggtgctt cagaccaagc ggagctcccg gaggcaaagc ctggagctgc 4321 agaagtgtga agagatcctc cacaagatcg tgaagtaccg cttcagctgg cccttcaggg 4381 agcctgtgac cagagatgag gccgaggact actatgatgt gatcacgcac cccatggact 4441 ttcagacagt gcagaacaaa tgttcctgtg ggagctaccg ctctgtgcag gagtttctta 4501 ctgacatgaa gcaagtgttt accaatgctg aggtttacaa ctgccgtggc agccatgtgc 4561 taagctgcat ggtgaagaca gaacagtgtc tagtggctct gttgcataaa caccttcctg 4621 gccacccata tgtccgcagg aagcgcaaga agtttcctga taggcttgct gaagatgaag 4681 gggacagtga gccagaggcc gttggacagt ccaggggacg aagacagaag aagtagagag 4741 gcagggccgt ggtgacagta tcagtgagtg ccatacagaa ttgtgtattc accagcatca 4801 taaaacagtt gtggtctttt gagttgatct tggcagagta aagggacgtg tcctggagcc 4861 attcctgaat ctccccttct ttgtgacagc tcctcccacc cccccaaaaa ataaaaaaac 4921 cacaaaaaac aaaaaaacaa aactaaggca cttcacttag agactggagt cctgcttata 4981 atcatgcata taacctttac tttgatggat ctggccagag gggtgttgga gcccagccca 5041 cccacatacc agtcaagctc ttaggggagc agaagaaaag caggaagaat ttaaatgttt 5101 aatttttttt ttaaattgac ttttctagtt attaaaagtt gcttgtttca gcagtgatat 5161 tgtataaaga acatcttgta agatactcct gacatcttgc tttagcacat gtacagtaca 5221 gtttctatga taatgtgttt gctctaactt ccctggcttc tccttcagcc catccactct 5281 cctctagagc agttgggttg gangctcatt gangcaagca gcaacattgg anggggagca 5341 gggcagtgct gtgtctgctg cctcccatgc ccgttctgac ctcagccttg gaactcctca 5401 agaacctgaa gattccagtg gtcagtgtcg gtggggggtg ggaggagaga gcggcagaga 5461 agctctgaga gccccttccc ccacaacaaa tctagctcta gttgttatat ttaggcaaaa 5521 ctttgtagtc ttctttccct tttatgatgg attttgataa aagtacaaaa cagggttttt 5581 cttttttatc acctttgaat ttggaaattt tgagcaccca agctcttctg tacctattta 5641 aagtccacca aggggactgc agctcctaga acatgagaat caagcctctt aattttaaac 5701 tgcggaatgt ggcctctgct tcctccgtcc tcctgcccaa ggacgacgag gattgctcca 5761 gggctgctgg gtagtttacc gtcccttcta taggcatgga gttggcactg acatcacagc 5821 ttcataaccc caccaccgcc agcttcccct gcctcctaca tccagtctgt tcttgttcat 5881 agtgagaatc ctgtgttccc acttcagtga cacctgaatt gtttgttgtt gttttttttt 5941 tttattgtct tcaaagagga agggccccat taaagggtga acttgtaata aattggaatt 6001 tcaaataaac ctcatgtact tgtgtttata aagaagaaac caa //