LOCUS GU128157 4863 bp mRNA linear HUM 17-NOV-2009 DEFINITION Homo sapiens F1245I mutant anaplastic lymphoma receptor tyrosine kinase (ALK) mRNA, complete cds. ACCESSION GU128157 VERSION GU128157.1 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 4863) AUTHORS Wood,A., Laudenslager,M., Haglund,L., Courtright,J., Plegaria,J., Diskin,S., Attiyeh,E.F., Cole,K., Pawel,B., Zhao,H., Zhang,J., McGrady,P., London,W., McTigue,M.A., Marrone,T.J., Christensen,J.G., Maris,J.M. and Mosse,Y.P. TITLE Targeted ALK inhibition therapy for neuroblastoma JOURNAL Unpublished REFERENCE 2 (bases 1 to 4863) AUTHORS Wood,A., Laudenslager,M., Haglund,L., Courtright,J., Plegaria,J., Diskin,S., Attiyeh,E.F., Cole,K., Pawel,B., Zhao,H., Zhang,J., McGrady,P., London,W., McTigue,M.A., Marrone,T.J., Christensen,J.G., Maris,J.M. and Mosse,Y.P. TITLE Direct Submission JOURNAL Submitted (22-OCT-2009) Oncology, The Children's Hospital of Philadelphia, 3501 Civic Center Boulevard CTRB 3300, Philadelphia, PA 19104, USA FEATURES Location/Qualifiers source 1..4863 /db_xref="H-InvDB:HIT000648486" /organism="Homo sapiens" /mol_type="mRNA" /isolate="F1245I" /db_xref="taxon:9606" /tissue_type="neuroblastoma" /collection_date="2008" gene 1..4863 /gene="ALK" CDS 1..4863 /gene="ALK" /codon_start=1 /product="mutant anaplastic lymphoma receptor tyrosine kinase" /protein_id="ACY79565.1" /translation="MGAIGLLWLLPLLLSTAAVGSGMGTGQRAGSPAAGPPLQPREPL SYSRLQRKSLAVDFVVPSLFRVYARDLLLPPSSSELKAGRPEARGSLALDCAPLLRLL GPAPGVSWTAGSPAPAEARTLSRVLKGGSVRKLRRAKQLVLELGEEAILEGCVGPPGE AAVGLLQFNLSELFSWWIRQGEGRLRIRLMPEKKASEVGREGRLSAAIRASQPRLLFQ IFGTGHSSLESPTNMPSPSPDYFTWNLTWIMKDSFPFLSHRSRYGLECSFDFPCELEY SPPLHDLRNQSWSWRRIPSEEASQMDLLDGPGAERSKEMPRGSFLLLNTSADSKHTIL SPWMRSSSEHCTLAVSVHRHLQPSGRYIAQLLPHNEAAREILLMPTPGKHGWTVLQGR IGRPDNPFRVALEYISSGNRSLSAVDFFALKNCSEGTSPGSKMALQSSFTCWNGTVLQ LGQACDFHQDCAQGEDESQMCRKLPVGFYCNFEDGFCGWTQGTLSPHTPQWQVRTLKD ARFQDHQDHALLLSTTDVPASESATVTSATFPAPIKSSPCELRMSWLIRGVLRGNVSL VLVENKTGKEQGRMVWHVAAYEGLSLWQWMVLPLLDVSDRFWLQMVAWWGQGSRAIVA FDNISISLDCYLTISGEDKILQNTAPKSRNLFERNPNKELKPGENSPRQTPIFDPTVH WLFTTCGASGPHGPTQAQCNNAYQNSNLSVEVGSEGPLKGIQIWKVPATDTYSISGYG AAGGKGGKNTMMRSHGVSVLGIFNLEKDDMLYILVGQQGEDACPSTNQLIQKVCIGEN NVIEEEIRVNRSVHEWAGGGGGGGGATYVFKMKDGVPVPLIIAAGGGGRAYGAKTDTF HPERLENNSSVLGLNGNSGAAGGGGGWNDNTSLLWAGKSLQEGATGGHSCPQAMKKWG WETRGGFGGGGGGCSSGGGGGGYIGGNAASNNDPEMDGEDGVSFISPLGILYTPALKV MEGHGEVNIKHYLNCSHCEVDECHMDPESHKVICFCDHGTVLAEDGVSCIVSPTPEPH LPLSLILSVVTSALVAALVLAFSGIMIVYRRKHQELQAMQMELQSPEYKLSKLRTSTI MTDYNPNYCFAGKTSSISDLKEVPRKNITLIRGLGHGAFGEVYEGQVSGMPNDPSPLQ VAVKTLPEVCSEQDELDFLMEALIISKFNHQNIVRCIGVSLQSLPRFILLELMAGGDL KSFLRETRPRPSQPSSLAMLDLLHVARDIACGCQYLEENHIIHRDIAARNCLLTCPGP GRVAKIGDFGMARDIYRASYYRKGGCAMLPVKWMPPEAFMEGIFTSKTDTWSFGVLLW EIFSLGYMPYPSKSNQEVLEFVTSGGRMDPPKNCPGPVYRIMTQCWQHQPEDRPNFAI ILERIEYCTQDPDVINTALPIEYGPLVEEEEKVPVRPKDPEGVPPLLVSQQAKREEER SPAAPPPLPTTSSGKAAKKPTAAEISVRVPRGPAVEGGHVNMAFSQSNPPSELHKVHG SRNKPTSLWNPTYGSWFTEKPTKKNNPIAKKEPHDRGNLGLEGSCTVPPNVATGRLPG ASLLLEPSSLTANMKEVPLFRLRHFPCGNVNYGYQQQGLPLEAATAPGAGHYEDTILK SKNSMNQPGP" variation 3733 /gene="ALK" /note="results in Phe to Ile substitution" /replace="t" BASE COUNT 1083 a 1394 c 1429 g 957 t ORIGIN 1 atgggagcca tcgggctcct gtggctcctg ccgctgctgc tttccacggc agctgtgggc 61 tccgggatgg ggaccggcca gcgcgcgggc tccccagctg cggggccgcc gctgcagccc 121 cgggagccac tcagctactc gcgcctgcag aggaagagtc tggcagttga cttcgtggtg 181 ccctcgctct tccgtgtcta cgcccgggac ctactgctgc caccatcctc ctcggagctg 241 aaggctggca ggcccgaggc ccgcggctcg ctagctctgg actgcgcccc gctgctcagg 301 ttgctggggc cggcgccggg ggtctcctgg accgccggtt caccagcccc ggcagaggcc 361 cggacgctgt ccagggtgct gaagggcggc tccgtgcgca agctccggcg tgccaagcag 421 ttggtgctgg agctgggcga ggaggcgatc ttggagggtt gcgtcgggcc ccccggggag 481 gcggctgtgg ggctgctcca gttcaatctc agcgagctgt tcagttggtg gattcgccaa 541 ggcgaagggc gactgaggat ccgcctgatg cccgagaaga aggcgtcgga agtgggcaga 601 gagggaaggc tgtccgcggc aattcgcgcc tcccagcccc gccttctctt ccagatcttc 661 gggactggtc atagctcctt ggaatcacca acaaacatgc cttctccttc tcctgattat 721 tttacatgga atctcacctg gataatgaaa gactccttcc ctttcctgtc tcatcgcagc 781 cgatatggtc tggagtgcag ctttgacttc ccctgtgagc tggagtattc ccctccactg 841 catgacctca ggaaccagag ctggtcctgg cgccgcatcc cctccgagga ggcctcccag 901 atggacttgc tggatgggcc tggggcagag cgttctaagg agatgcccag aggctccttt 961 ctccttctca acacctcagc tgactccaag cacaccatcc tgagtccgtg gatgaggagc 1021 agcagtgagc actgcacact ggccgtctcg gtgcacaggc acctgcagcc ctctggaagg 1081 tacattgccc agctgctgcc ccacaacgag gctgcaagag agatcctcct gatgcccact 1141 ccagggaagc atggttggac agtgctccag ggaagaatcg ggcgtccaga caacccattt 1201 cgagtggccc tggaatacat ctccagtgga aaccgcagct tgtctgcagt ggacttcttt 1261 gccctgaaga actgcagtga aggaacatcc ccaggctcca agatggccct gcagagctcc 1321 ttcacttgtt ggaatgggac agtcctccag cttgggcagg cctgtgactt ccaccaggac 1381 tgtgcccagg gagaagatga gagccagatg tgccggaaac tgcctgtggg tttttactgc 1441 aactttgaag atggcttctg tggctggacc caaggcacac tgtcacccca cactcctcaa 1501 tggcaggtca ggaccctaaa ggatgcccgg ttccaggacc accaagacca tgctctattg 1561 ctcagtacca ctgatgtccc cgcttctgaa agtgctacag tgaccagtgc tacgtttcct 1621 gcaccgatca agagctctcc atgtgagctc cgaatgtcct ggctcattcg tggagtcttg 1681 aggggaaacg tgtccttggt gctagtggag aacaaaaccg ggaaggagca aggcaggatg 1741 gtctggcatg tcgccgccta tgaaggcttg agcctgtggc agtggatggt gttgcctctc 1801 ctcgatgtgt ctgacaggtt ctggctgcag atggtcgcat ggtggggaca aggatccaga 1861 gccatcgtgg cttttgacaa tatctccatc agcctggact gctacctcac cattagcgga 1921 gaggacaaga tcctgcagaa tacagcaccc aaatcaagaa acctgtttga gagaaaccca 1981 aacaaggagc tgaaacccgg ggaaaattca ccaagacaga cccccatctt tgaccctaca 2041 gttcattggc tgttcaccac atgtggggcc agcgggcccc atggccccac ccaggcacag 2101 tgcaacaacg cctaccagaa ctccaacctg agcgtggagg tggggagcga gggccccctg 2161 aaaggcatcc agatctggaa ggtgccagcc accgacacct acagcatctc gggctacgga 2221 gctgctggcg ggaaaggcgg gaagaacacc atgatgcggt cccacggcgt gtctgtgctg 2281 ggcatcttca acctggagaa ggatgacatg ctgtacatcc tggttgggca gcagggagag 2341 gacgcctgcc ccagtacaaa ccagttaatc cagaaagtct gcattggaga gaacaatgtg 2401 atagaagaag aaatccgtgt gaacagaagc gtgcatgagt gggcaggagg cggaggagga 2461 gggggtggag ccacctacgt atttaagatg aaggatggag tgccggtgcc cctgatcatt 2521 gcagccggag gtggtggcag ggcctacggg gccaagacag acacgttcca cccagagaga 2581 ctggagaata actcctcggt tctagggcta aacggcaatt ccggagccgc aggtggtgga 2641 ggtggctgga atgataacac ttccttgctc tgggccggaa aatctttgca ggagggtgcc 2701 accggaggac attcctgccc ccaggccatg aagaagtggg ggtgggagac aagagggggt 2761 ttcggagggg gtggaggggg gtgctcctca ggtggaggag gcggaggata tataggcggc 2821 aatgcagcct caaacaatga ccccgaaatg gatggggaag atggggtttc cttcatcagt 2881 ccactgggca tcctgtacac cccagcttta aaagtgatgg aaggccacgg ggaagtgaat 2941 attaagcatt atctaaactg cagtcactgt gaggtagacg aatgtcacat ggaccctgaa 3001 agccacaagg tcatctgctt ctgtgaccac gggacggtgc tggctgagga tggcgtctcc 3061 tgcattgtgt cacccacccc ggagccacac ctgccactct cgctgatcct ctctgtggtg 3121 acctctgccc tcgtggccgc cctggtcctg gctttctccg gcatcatgat tgtgtaccgc 3181 cggaagcacc aggagctgca agccatgcag atggagctgc agagccctga gtacaagctg 3241 agcaagctcc gcacctcgac catcatgacc gactacaacc ccaactactg ctttgctggc 3301 aagacctcct ccatcagtga cctgaaggag gtgccgcgga aaaacatcac cctcattcgg 3361 ggtctgggcc atggcgcctt tggggaggtg tatgaaggcc aggtgtccgg aatgcccaac 3421 gacccaagcc ccctgcaagt ggctgtgaag acgctgcctg aagtgtgctc tgaacaggac 3481 gaactggatt tcctcatgga agccctgatc atcagcaaat tcaaccacca gaacattgtt 3541 cgctgcattg gggtgagcct gcaatccctg ccccggttca tcctgctgga gctcatggcg 3601 gggggagacc tcaagtcctt cctccgagag acccgccctc gcccgagcca gccctcctcc 3661 ctggccatgc tggaccttct gcacgtggct cgggacattg cctgtggctg tcagtatttg 3721 gaggaaaacc acatcatcca ccgagacatt gctgccagaa actgcctctt gacctgtcca 3781 ggccctggaa gagtggccaa gattggagac ttcgggatgg cccgagacat ctacagggcg 3841 agctactata gaaagggagg ctgtgccatg ctgccagtta agtggatgcc cccagaggcc 3901 ttcatggaag gaatattcac ttctaaaaca gacacatggt cctttggagt gctgctatgg 3961 gaaatctttt ctcttggata tatgccatac cccagcaaaa gcaaccagga agttctggag 4021 tttgtcacca gtggaggccg gatggaccca cccaagaact gccctgggcc tgtataccgg 4081 ataatgactc agtgctggca acatcagcct gaagacaggc ccaactttgc catcattttg 4141 gagaggattg aatactgcac ccaggacccg gatgtaatca acaccgcttt gccgatagaa 4201 tatggtccac ttgtggaaga ggaagagaaa gtgcctgtga ggcccaagga ccctgagggg 4261 gttcctcctc tcctggtctc tcaacaggca aaacgggagg aggagcgcag cccagctgcc 4321 ccaccacctc tgcctaccac ctcctctggc aaggctgcaa agaaacccac agctgcagag 4381 atctctgttc gagtccctag agggccggcc gtggaagggg gacacgtgaa tatggcattc 4441 tctcagtcca accctccttc ggagttgcac aaggtccacg gatccagaaa caagcccacc 4501 agcttgtgga acccaacgta cggctcctgg tttacagaga aacccaccaa aaagaataat 4561 cctatagcaa agaaggagcc acacgacagg ggtaacctgg ggctggaggg aagctgtact 4621 gtcccaccta acgttgcaac tgggagactt ccgggggcct cactgctcct agagccctct 4681 tcgctgactg ccaatatgaa ggaggtacct ctgttcaggc tacgtcactt cccttgtggg 4741 aatgtcaatt acggctacca gcaacagggc ttgcccttag aagccgctac tgcccctgga 4801 gctggtcatt acgaggatac cattctgaaa agcaagaata gcatgaacca gcctgggccc 4861 tga //