LOCUS HMGB1 9962 bp DNA linear PRI 24-MAY-2007 DEFINITION Homo sapiens HMGB1 high-mobility group box 1 (HMGB1) gene, complete cds. ACCESSION HMGB1 VERSION tmp KEYWORDS . SOURCE Homo sapiens (human) ORGANISM Homo sapiens Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo. REFERENCE 1 (bases 1 to 9962) AUTHORS Rieder,M.J., Johanson,E.J., da Ponte,S.H., Hastings,N.C., Ahearn,M.O., Bertucci,C.B., Wong,M.W., Yi,Q. and Nickerson,D.A. TITLE Direct Submission JOURNAL Submitted (24-MAY-2007) Genome Sciences, University of Washington, 1705 NE Pacific, Seattle, WA 98195, USA COMMENT To cite this work please use: SeattleSNPs. NHLBI HL66682 Program for Genomic Applications, UW-FHCRC, Seattle, WA (URL: http://pga.gs.washington.edu). FEATURES Location/Qualifiers source 1..9962 /organism="Homo sapiens" /mol_type="genomic DNA" /db_xref="taxon:9606" variation 359 /frequency="0.39" /replace="A" variation 427 /frequency="0.01" /replace="C" variation 597 /frequency="0.01" /replace="" variation 675 /frequency="0.15" /replace="C" variation 1011 /frequency="0.16" /replace="G" variation 1472 /frequency="0.14" /replace="C" variation 1521 /frequency="0.01" /replace="" gene 1874..9083 /gene="HMGB1" mRNA join(1874..2022,4124..4287,4466..4611,5106..5280, 6285..9083) /gene="HMGB1" /product="HMGB1" variation 1929 /gene="HMGB1" /frequency="0.01" /replace="T" variation 1969 /gene="HMGB1" /frequency="0.04" /replace="A" variation 2173 /gene="HMGB1" /frequency="0.07" /replace="A" misc_feature 2283..3985 /gene="HMGB1" /note="Region not scanned for variation" variation 4052 /gene="HMGB1" /frequency="0.22" /replace="G" CDS join(4138..4287,4466..4611,5106..5280,6285..6461) /gene="HMGB1" /codon_start=1 /product="HMGB1 high-mobility group box 1" /translation="MGKGDPKKPRGKMSSYAFFVQTCREEHKKKHPDASVNFSEFSKK CSERWKTMSAKEKGKFEDMAKADKARYEREMKTYIPPKGETKKKFKDPNAPKRPPSAF FLFCSEYRPKIKGEHPGLSIGDVAKKLGEMWNNTAADDKQPYEKKAAKLKEKYEKDIA AYRAKGKPDAAKKGVVKAEKSKKKKEEEEDEEDEEDEEEEEDEEDEDEEEDDDDE" variation 4510 /gene="HMGB1" /frequency="0.16" /replace="G" variation 4717 /gene="HMGB1" /frequency="0.01" /replace="A" variation 4742 /gene="HMGB1" /frequency="0.14" /replace="C" variation 5118 /gene="HMGB1" /frequency="0.14" /replace="T" variation 5274 /gene="HMGB1" /frequency="0.09" /replace="T" variation 5275 /gene="HMGB1" /frequency="0.01" /replace="C" variation 5313 /gene="HMGB1" /frequency="0.21" /replace="C" variation 5398 /gene="HMGB1" /frequency="0.01" /replace="G" variation 5411 /gene="HMGB1" /frequency="0.01" /replace="T" variation 5590 /gene="HMGB1" /frequency="0.16" /replace="G" variation 6099..6101 /gene="HMGB1" /frequency="0.01" /replace="" variation 7512 /gene="HMGB1" /frequency="0.22" /replace="" variation 7531 /gene="HMGB1" /frequency="0.16" /replace="" variation 7551 /gene="HMGB1" /frequency="0.05" /replace="G" variation 7556 /gene="HMGB1" /frequency="0.91" /replace="" variation 7627..7630 /gene="HMGB1" /frequency="0.12" /replace="" variation 8237..8238 /gene="HMGB1" /frequency="0.01" /replace="" variation 8307..8309 /gene="HMGB1" /frequency="0.01" /replace="" variation 8544 /gene="HMGB1" /frequency="0.01" /replace="C" variation 8644..8647 /gene="HMGB1" /frequency="0.61" /replace="" variation 8728 /gene="HMGB1" /frequency="0.23" /replace="A" variation 8745 /gene="HMGB1" /frequency="0.15" /replace="G" variation 8779 /gene="HMGB1" /frequency="0.01" /replace="G" variation 8887 /gene="HMGB1" /frequency="0.01" /replace="A" variation 8918 /gene="HMGB1" /frequency="0.01" /replace="A" repeat_region 9195..9491 /rpt_family="Alu" /rpt_type=dispersed variation 9199 /frequency="0.02" /replace="A" variation 9205 /frequency="0.02" /replace="G" variation 9211 /frequency="0.01" /replace="C" variation 9243 /frequency="0.07" /replace="G" variation 9263 /frequency="0.16" /replace="C" variation 9291 /frequency="0.03" /replace="A" variation 9326 /frequency="0.01" /replace="G" variation 9503 /frequency="0.15" /replace="T" BASE COUNT 2786 a 1959 c 2353 g 2864 t ORIGIN 1 tcctggaaaa tattgatagt gccatattca actaatcgtc aaattttaat atcatcgatg 61 ccactgaaag tatcttaatc attctcatga atattttgta atatgagaca ttgagaagat 121 aagacagtat tgaaataaat atctagattt aaaaaatata aaatttgaat gattagtaga 181 gggaagcaga ggatagtaaa tatgtgtgaa aataataaca taaaagttaa ctttagatat 241 attatcttta aacactgcat gtgcagtata ccaatttata tcctctttaa tattatagtc 301 tttttcatgt gcatgtgtga tatattgtcc attcaccaag actataatcc ctgagtccga 361 tagtgtattt tcttttaaaa agaaatcaac attaaaacag gaaagattat ctaagcttac 421 tctcaagtag tttaatacat ttgaggaaat aaattaggtt atggatgctt ataagcgata 481 taaaaaatca aattaacacg atgtaggtga tttattccaa atttgatctg ttacatttgg 541 aggaattggt tgttggattt agaagtgtac aaaataccat tagagagtga aaaaaaaggg 601 aagtctgtta taactgaata ggggcgtggt ctgctcaggc taaaaggaat agatagtagt 661 ttcataaagg actgatataa ctgtagagtc ttcagaactg gccactacag ccagcacatt 721 ttctctacag acgtaagtat gtctattaat accagccagc ttggtgagtt agagaaacca 781 cagcctgtgg atttgggcac atgcactctc tgcctgcatc taatccttcg ggtaaccata 841 tacctacaac tcctgtaatc ctagagcagt tacatggatg cactaagtgg tgtgatggga 901 gggaaagata gcatcacaag gattcgtttg attgtaacag taatccacac caagtcaaat 961 aaaatagcca aacagtttag aatgtggtct ctaatgaatt tgctaattct accagggcct 1021 cacaaacatt tcctgctaga gtaccccata tcaaaccaag tggctgttct ttaattacat 1081 ggaataatta tttgatttcc aggaagttaa gacagtgctt tgtatttaaa taaaaagttc 1141 tagacatgct gtgaaactcg atcaaaccaa gaaaaagggt gaaactgaat gcctgctcac 1201 tgactcaaga tttcagctgc tcagcgagcc tgacgtgacg gcttatgagc ccagaaaagg 1261 ggtattttaa acccggctgg ctggatcatg tcactttctt atagaagccc tgcctttcca 1321 gagacctaaa gtgtaacgca atcagagacc tttgaggggc tcgaggctcg gcggcttccg 1381 cccctcagca ccagcagaga ccccagtttt caggggacat gatcccatag tgtcgccctc 1441 acttttgaag ggccattaaa agcctggggc ctcttatctc aacggctttg ggcgtgaatg 1501 tggggcaaga aggggggggg gagacctgtg ggtgtctctt ttgcctgagg agttggagac 1561 acttgtggaa aagtcaggcc cttttcgctc cggcggccgc tccggtgtgg ggctggcttg 1621 ggttagacac atgcacacat acaccataga gctctgcttt cccgtagcag ctgctgcctc 1681 tgcctctgcc tctcccgcct cagcctcttt gcccggcata cacacacatt cagatttgcg 1741 cgctgtttca atccttgatg acgtgtcccc ggagacagcc aatagcaaac gggctctggt 1801 caggacaatg ggaggtatcg ggccaatgag cgagccccgt gagttggcgg tagccaatag 1861 gagccgcgct ggctggagag taatgttaca gagcggagag agtgaggagg ctgcgtctgg 1921 ctcccgctct cacagccatt gcagtacatt gagctccata gagacagcgc cggggcaagt 1981 gagagccgga cgggcactgg gcgactctgt gcctcgctga gggtgagtct ggggcagcgc 2041 cgcggcgggg agagcgcctc cggcagctcc ccagcccgcg cggcggccgg atccccgcgg 2101 ccgggagccg gcgggtcagg atccacacaa aggcaaatga ggggggaccg tggggggaac 2161 tgcgcacgga gcgagcctct gcccgggcgc cgggaacgct gccccgcgcc ggtgccccgg 2221 ccctcaggca gcctgaggcg ccgggagccc cgcgccccgc gagtttccac ccccggcggc 2281 gtccgcgctg actggcgcaa aaaaaaaaat ttttttttta attaaaaaaa ttttgaacgt 2341 gttttgggcc ctcgggccgg gcgttcgggc gggcggcgtg cgcggagcgc ggccggggcg 2401 gcggggccgg cgcggctcgg cggcggcggc gggagggcag cggcggcgct tccccgggct 2461 gcattggccg ccgccgcagc gagccgggcg ctggcgggga gcgcggccag ccgggcgggc 2521 ggcggggcgg gcggggcgcc gcggcgggcg agggcggcgc gggggcctgg gggcggcagt 2581 gcgggcccgg ccggcctcgg cccggtcgcg gcggcggcgg cggccgggcg gcggggggag 2641 cggcgccgct gcgctcgctg gaacatggct gactcgggcc cggcgctgct ggctggagag 2701 aaaacaaggc gggcgggcgg gggagctggg cgcagcagtt ccgaggcaac tttttttttc 2761 ctctctcttt tcacagcccc gcgttctccg tgcgggggcg gcggggcgcg cggcccgcgc 2821 ggagggagac ggggagtggc gggcgggtgg gccctcgggc ggcccccacc gcggcggggg 2881 gaggggagcg gcgcggaggg gagggcccgg ccgcgcgccc cccgcccctc ccccggccgt 2941 aatggccgag tgtgtgcgcc agagcgcggc tcgcaccccg cccgccgccg ccgccgcgcc 3001 cgcaccctcg cactcacaca ctctctcata cacacacaca cacacacaca cacacaaagg 3061 gaaggagcca tattctcgct cgcgctcgcc ctcgcggcgg cggcggcgca ggcggagaag 3121 acgcgcagcg gccattccgt gcgcgccggc cccggcggcc gcgggcggag ccagccccca 3181 tttcgagcgg ggcttctccc tgcgccgagc ctgacaaaat gggggcggcg gcggcgcggg 3241 cctgcagggc ctgccgggcg cacgtggcgg cctcgggcct gggagccggg ccgcgtcctc 3301 tctcctcggc cgcgcggcca ccggcgaagt tctaggggcg gggggctcgc cccgcgcagg 3361 agtcacccca actttcacgg ctccaaaaaa tacttcccga gttgggggag ggggccaccg 3421 agccacgagc aggagtggct tttgtccctc atccttgttt actcggagaa acttcagacc 3481 ggacgtgttt agtcagaaca gaaatacatc tcagggccaa accgatagga aacgaggctg 3541 cctcgcggtg gcaccgccac cccccaaccg ggttccgagc accggagctg gctgctgctc 3601 cctctttgga gcaaagtttt atgcaaagag ggtgtttttt gaaactttcg gtgcacggtg 3661 attttttttt tttaaggtcc cataattagg aagagtcgac tcgcttaggc ccttgtttat 3721 tccctatcta gtgcaaagcc acgaattggc agcatgtttt ctgacctttg gtttggttgg 3781 tttaaaatgg tgttctagat tttaaaatcg tttaagtgac cagttagata ctcattcaga 3841 gcagactcgg gcggatagat agggaatact gtatgggtat atctttgtgt ctagactttt 3901 tgagatcgcc ctgaaggact gtttttgttt tgttttgttt gcttggcata gccccttcaa 3961 ggaatttaat ctctcggcca tattcttgtc tgattttacg gaggttgatg tcgctactgt 4021 gttaaataac cagtactttg gttttcattc ccttactaag tactttaagg tcttatatgt 4081 cataatttta ttgctaacat caaatattta ttttattttt tagaaaaata actaaacatg 4141 ggcaaaggag atcctaagaa gccgagaggc aaaatgtcat catatgcatt ttttgtgcaa 4201 acttgtcggg aggagcataa gaagaagcac ccagatgctt cagtcaactt ctcagagttt 4261 tctaagaagt gctcagagag gtggaaggta agagggctta aaacatgcta acaaggtaat 4321 taaaagacag tttccaattg aggatgcaaa aaaaagccta gttggcattc tcgtagtggg 4381 acgctattac atagcaaaag acattggttt tgaggataat ttacttaaat gttacaactt 4441 aaacttacaa ataattattt tgtagaccat gtctgctaaa gagaaaggaa aatttgaaga 4501 tatggcaaaa gcggacaagg cccgttatga aagagaaatg aaaacctata tccctcccaa 4561 aggggagaca aaaaagaagt tcaaggatcc caatgcaccc aagaggcctc cgtgagtatc 4621 ttgcctgttt ttacttccca gacacgtttt acagtagaat ctgagagaaa tttagcaagc 4681 tactttgtca gtttagagtg taaatgtaca atcaaagttt cttagctaat acttgttcat 4741 attggttata tttaaatagt ataaaattcc tgttgggtgg gagtgttccc agagcatttg 4801 aattagacat ttggtctcct ttgcccagtg tatctccttt tgatcttttt atttcttgaa 4861 aaatactatc cctttgaaat agtgtaattg tagaatgttc atctagggtt ctagctagta 4921 taaattaaat agttgtaaat taagctttgg ttgtgaagga tatttagtat attatagtat 4981 ttgcaccctg tccaatgcat cacagaaatt cacaggcagc tttaaatagc aatgcagtgt 5041 acacttgata gtatttgttt ttgtgatctg ttaacttaaa atcctaaaat taattttttt 5101 tttagttcgg ccttcttcct cttctgctct gagtatcgcc caaaaatcaa aggagaacat 5161 cctggcctgt ccattggtga tgttgcgaag aaactgggag agatgtggaa taacactgct 5221 gcagatgaca agcagcctta tgaaaagaag gctgcgaagc tgaaggaaaa atacgaaaag 5281 gtaagaagtg tgggtttgct tggtaaaatg atgacaagta cgccagatgt atgattgtac 5341 ttagtttgag gtgtaataag tttttagggt aacagctaca ttaagtatgg tgttgatata 5401 agtcctcatc cttcaaagaa tgcagaggac caaataaatt agggtttttt tgactaaaat 5461 gtaatcagac tcagacaaag gctgtgtaca tttatgttgg ttttgttatt ccccagtatc 5521 ttgaagttca tgaaaatgtt ggtagtcact tcaagtcaaa aatgagcatt ttcaaatggc 5581 ttggcataca gtacaaaaac aggctagaca aagtaatata ggctatattt ttcttagtca 5641 tatcctgaaa catttatgtt cttttccttt agatactcaa aaaaccacag catcactaag 5701 ttaaattaca agtctgctgc tctgtccagt aaattaataa gattaaggaa atctataact 5761 cttatagttc agtaaattga aatattaaat acttaatttt cagctttagt cattctgaaa 5821 agtgtttatt tctagatgtt tcttaaccta attgcatgtt tattgacaaa ttaccttttt 5881 tttttaagac cacatttcct actaaggatt aaggtctgac agtgtaaacc tgtagagtgc 5941 ttttttgcat tcagaaggtg gcagtgtcta ccctttaatc aaagtctcta cattctggtt 6001 ttaatagagt taggatgtgg tacataattg cacctcaatg aggcataact ttgcaaatat 6061 tagactatgc catttcatga gttatagatt gttataatga tcttgtattt ttatgttcat 6121 ttattgaagt tctagttatt tctggagttg ctgtggatct acagatacgt gatattttgg 6181 tataactaga atcttgattt ctttcataaa gttctgccat gttctatttc tttccttaat 6241 gtttttttct tccctactgt tttatcctcc ctttgctttg gaaggatatt gctgcatatc 6301 gagctaaagg aaagcctgat gcagcaaaaa agggagttgt caaggctgaa aaaagcaaga 6361 aaaagaagga agaggaggaa gatgaggaag atgaagagga tgaggaggag gaggaagatg 6421 aagaagatga agatgaagaa gaagatgatg atgatgaata agttggttct agcgcagttt 6481 tttttttctt gtctataaag catttaaccc ccctgtacac aactcactcc ttttaaagaa 6541 aaaaattgaa atgtaaggct gtgtaagatt tgtttttaaa ctgtacagtg tctttttttg 6601 tatagttaac acactaccga atgtgtcttt agatagccct gtcctggtgg tattttcaat 6661 agccactaac cttgcctggt acagtatggg ggttgtaaat tggcatggaa atttaaagca 6721 ggttcttgtt ggtgcacagc acaaattagt tatatatggg gatggtagtt ttttcatctt 6781 cagttgtctc tgatgcagct tatacgaaat aattgttgtt ctgttaactg aataccactc 6841 tgtaattgca aaaaaaaaaa aaaagttgca gctgttttgt tgacattctg aatgcttcta 6901 agtaaataca atttttttta ttagtattgt tgtccttttc ataggtctga aatttttctt 6961 cttgagggga agctagtctt ttgcttttgc ccattttgaa tcacatgaat tattacagtg 7021 tttatccttt catatagtta gctaataaaa agcttttgtc tacacaccct gcatatcata 7081 atgggggtaa agttaagttg agatagtttt catccataac tgaacatcca aaatcttgat 7141 cagttaagaa atttcacata gcccacttac atttacaaac tgaagagtaa tcaatctact 7201 caaagcatgg gattattaga atcaaacatt ttgaaagtct gtccttgaag gactaataga 7261 aaagtatgtt ctaaccttta catgaggact ctattcttta actcccatta ccatgtaatg 7321 gcagttatat tttgcagttc ccacattaaa gaagacctga gaatgtatcc ccaaaagcgt 7381 gagcttaaaa tacaagactg ccatattaaa ttttttgttg acattagtct cagtgaagac 7441 tatgaaaatg ctggctatag atgtcttttc ccatttatct aaatatggac tgctcaggaa 7501 acgagacttt ccattacaag tatttttaat taattgggcc agcttttcaa acaaaagatg 7561 ccacattcaa aatagggtat attttcctat attacggttt gcccctttat aaatccaagt 7621 agataggaag aaagaagaca aactttgcat ctcagtatga attattcaat ttatttgaat 7681 gatttttctt tacaaaacaa actcattcat tagtcatgtt tatctgctta ggagtttagg 7741 gaacaatttg gcaattttgt ggttttcgag attatcgttt tcttaaagtg ccagtatttt 7801 aaaatagcgt tcttgtaatt ttacacgctt ttgtgatgga gtgctgtttt gttatataat 7861 ttagacttgg attctttcca tttgcatttg tttatgtaat ttcaggagga atactgaaca 7921 tctgagtcct ggatgatact aataaactaa taattgcaga ggttttaaat actagttaaa 7981 tggctttcac ttaagaactt aagattttgt tacatatttt taaatcttgt ttctaataat 8041 acctcttagc agtacctttt aaataagtat aagggatggc aaagtttttc cctttaaaaa 8101 tactcacttt atgcttataa ataggttaat gggctgataa aaggttttgt caaacattgc 8161 aagtattcgg tgctatatat aaaggaggaa aaactagttt tactttcaga atgatttaaa 8221 caagattttt aaaaacaaga tacatgcaag cgaacagcag ggttagtgat aggctgcaat 8281 tgtgtcgaac atcagatttt ttgttaagag gagcaaatga ctcaatctga tttagatgga 8341 agtttctact gtatagaaat caccattaat caccaacatt aataattctg atccatttaa 8401 aatgaattct ggctcaagga gaatttgtaa ctttagtagg tacgtcatga caactaccat 8461 ttttttaaga tgttgagaat gggaacagtt tttttagggt ttattcttga ccacagatct 8521 taagaaaatg gacaaaaccc ctcttcaatc tgaagattag tatggtttgg tgttctaaca 8581 gtatccccta gaagttggat gtctaaaact caagtaaatg gaagtgggag gcaatttaga 8641 taattaagtg taaagccttg taactgaaga tgattttttt tagaaagtgt atagaaacta 8701 ttttaatgcc aagatagtta cagtgctgtg gggtttaaag actttgttga catcaagaaa 8761 agactaaatc tataattaat tgggccaact tttaaaatga agatgctttt taaaactaat 8821 gaactaagat gtataaatct tagttttttt gtattttaaa gataggcata tggcatattg 8881 attaacgagt caaatttcct aactttgctg tgcaaaggtt gagagctatt gctgattagt 8941 taccacagtt ctgatgatcg tcccatcaca gtgttgttaa tgtttgctgt atttattaat 9001 tttcttaaag tgaaatctga aaaatgaaat ttgtgtgtcc tgtgtacccg aggggtaatg 9061 attaaatgat aaagataaga aaagcgccca tgtaacacaa actgccattc aacaggtatt 9121 tcccttacta cctaaggaat tgtaaccatt gctcagacat tgtaggattt aactatgttg 9181 aaaactacag gagaggccgg gcgcagtggc tcacgcctgt aatcccagca ctttgggagg 9241 ccaaggcggg cagatcacga ggtcaggaga ttgagaccat cctggctaac gtggtgaaac 9301 cccgcctcta ctaaaaatac aaaaaattag ccaagcgtgg tgctgggcgc ctgtagtccc 9361 agtaactcag gaggctgagg caggagaatg gcgtgaaccc gggaggcgga ggttgcagtg 9421 agccgagatt gtgccactgc actccagcct gggtgacaga gcaagactcc atctcaaaaa 9481 aaaaaaaaaa acacaggaga gacaactggt ttttgaatga aatacatggg tactgccttg 9541 cttgacatca catagtcctt gatgaaagtt cacatttagg tctgcttggt acaatacgcc 9601 tcctaaaaag gtccttgatg aaagttcaca tttaggtctg cttggtacaa cacgcctcct 9661 gaaagggtct gatagctttc agtagcagta agacacttgc atgtgatggt aaggtatctg 9721 caaatttgca cacaccgtac acagcttaag tcttagaatt aacttgctaa aatgtgagcc 9781 tttggtaatt aggctgtttt attagggagt gtgataatat ttgaatttct tttcatattt 9841 gtgctttgtg tcattttcaa atgacccttg aaatgtattt taaaactaga taaaagccag 9901 aaagtgattt gattgtctat ccagcaaaag atggtggttc attttcttgt cctcttaata 9961 cc //