LOCUS LIG4 8590 bp DNA PRI 30-JAN-2002 DEFINITION Homo sapiens ligase IV, DNA, ATP-dependent (LIG4) gene, complete cds. ACCESSION LIG4 VERSION KEYWORDS . SOURCE Homo sapiens. ORGANISM Homo sapiens Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo. REFERENCE 1 (bases 1 to 8590) AUTHORS Rieder,M.J., Braun,A.C., Montoya,M.A., Chung,M.-W., Nguyen,C.P., Nguyen,D.A., Livingston,R.J., Poel,C.L., Robertson,P.D., Schackwitz,W.S., Sherwood,J.K., Witrak,L.A. and Nickerson,D.A. TITLE Direct Submission JOURNAL Submitted (30-JAN-2002) Genome Sciences, University of Washington, 1705 NE Pacific, Seattle, WA 98195, USA COMMENT To cite this work please use: NIEHS-SNPs, Environmental Genome Project, NIEHS ES15478, Department of Genome Sciences, Seattle, WA (URL: http://egp.gs.washington.edu). FEATURES Location/Qualifiers source 1..8590 /organism="Homo sapiens" /db_xref="taxon:9606" variation 168 /replace="G" /frequency="0.11" variation 183 /replace="T" /frequency="0.10" variation 250 /replace="C" /frequency="0.13" variation 521 /gene="LIG4" /replace="T" /frequency="0.02" mRNA join(521..765,4009..7088) /gene="LIG4" /product="LIG4" gene 521..7088 /gene="LIG4" variation 598 /gene="LIG4" /replace="A" /frequency="0.01" repeat_region 629..795 /rpt_family="MIR" /rpt_type=dispersed variation 838 /gene="LIG4" /replace="C" /frequency="0.06" variation 903 /gene="LIG4" /replace="A" /frequency="0.02" variation 1042 /gene="LIG4" /replace="A" /frequency="0.02" variation 1091 /gene="LIG4" /replace="A" /frequency="0.02" variation 1113 /gene="LIG4" /replace="A" /frequency="0.02" repeat_region 1489..1625 /rpt_family="MIR" /rpt_type=dispersed variation 1979..1982 /gene="LIG4" /replace="-" /frequency="0.07" variation 2045 /gene="LIG4" /replace="-" /frequency="0.98" variation 2064 /gene="LIG4" /replace="C" /frequency="0.02" variation 2190 /gene="LIG4" /replace="T" /frequency="0.06" variation 2202 /gene="LIG4" /replace="-" /frequency="0.99" variation 2282 /gene="LIG4" /replace="G" /frequency="0.01" variation 2653 /gene="LIG4" /replace="G" /frequency="0.01" variation 2667 /gene="LIG4" /replace="G" /frequency="0.01" variation 2840 /gene="LIG4" /replace="T" /frequency="0.01" variation 2873..2875 /gene="LIG4" /replace="-" /frequency="0.01" variation 3044 /gene="LIG4" /replace="G" /frequency="0.01" misc_feature 3085..3160 /gene="LIG4" /note="Region not scanned for variation" variation 3225 /gene="LIG4" /replace="T" /frequency="0.02" variation 3266 /gene="LIG4" /replace="G" /frequency="0.02" variation 3366 /gene="LIG4" /replace="G" /frequency="0.02" variation 3714 /gene="LIG4" /replace="T" /frequency="0.08" variation 3797 /gene="LIG4" /replace="G" /frequency="0.01" variation 3885 /gene="LIG4" /replace="-" /frequency="0.02" variation 3910 /gene="LIG4" /replace="T" /frequency="0.01" variation 3972 /gene="LIG4" /replace="C" /frequency="0.03" variation 4044 /gene="LIG4" /replace="T" /frequency="0.04" variation 4062 /gene="LIG4" /replace="T" /frequency="0.19" variation 4220 /gene="LIG4" /replace="C" /frequency="0.01" CDS 4238..6772 /gene="LIG4" /codon_start=1 /product="ligase IV, DNA, ATP-dependent" /translation="MRLILPQLERERMAYGIKETMLAKLYIELLNLPRDGKDALKLLN YRTPTGTHGDAGDFAMIAYFVLKPRCLQKGSLTIQQVNDLLDSIASNNSAKRKDLIKK SLLQLITQSSALEQKWLIRMIIKDLKLGVSQQTIFSVFHNDAAELHNVTTDLEKVCRQ LHDPSVGLSDISITLFSAFKPMLAAIADIEHIEKDMKHQSFYIETKLDGERMQMHKDG DVYKYFSRNGYNYTDQFGASPTEGSLTPFIHNAFKADIQICILDGEMMAYNPNTQTFM QKGTKFDIKRMVEDSDLQTCYCVFDVLMVNNKKLGHETLRKRYEILSSIFTPIPGRIE IVQKTQAHTKNEVIDALNEAIDKREEGIMVKQPLSIYKPDKRGEGWLKIKPEYVSGLM DELDILIVGGYWGKGSRGGMMSHFLCAVAEKPPPGEKPSVFHTLSRVGSGCTMKELYD LGLKLAKYWKPFHRKAPPSSILCGTEKPEVYIEPCNSVIVQIKAAEIVPSDMYKTGCT LRFPRIEKIRDDKEWHECMTLDDLEQLRGKASGKLASKHLYIGGDDEPQEKKRKAAPK MKKVIGIIEHLKAPNLTNVNKISNIFEDVEFCVMSGTDSQPKPDLENRIAEFGGYIVQ NPGPDTYCVIAGSENIRVKNIILSNKHDVVKPAWLLECFKTKSFVPWQPRFMIHMCPS TKEHFAREYDCYGDSYFIDTDLNQLKEVFSGIKNSNEQTPEEMASLIADLEYRYSWDC SPLSMFRRHTVYLDSYAVINDLSTKNEGTRLAIKALELRFHGAKVVSCLAEGVSHVII GEDHSRVADFKAFRRTFKRKFKILKESWVTDSIDKCELQEENQYLI" variation 4549 /gene="LIG4" /replace="C" /frequency="0.01" variation 4727 /gene="LIG4" /replace="T" /frequency="0.01" variation 4843 /gene="LIG4" /replace="T" /frequency="0.02" variation 5740 /gene="LIG4" /replace="C" /frequency="0.07" variation 6016 /gene="LIG4" /replace="G" /frequency="0.01" variation 6605 /gene="LIG4" /replace="A" /frequency="0.02" variation 6826 /gene="LIG4" /replace="A" /frequency="0.02" variation 6901 /gene="LIG4" /replace="G" /frequency="0.01" variation 6903 /gene="LIG4" /replace="T" /frequency="0.02" variation 6976 /gene="LIG4" /replace="G" /frequency="0.02" variation 7371..7374 /replace="-" /frequency="0.07" variation 7386 /replace="C" /frequency="0.01" variation 7449 /replace="G" /frequency="0.07" variation 7807 /replace="A" /frequency="0.13" repeat_region 7940..8105 /rpt_family="Alu" /rpt_type=dispersed misc_feature 7950..8285 /note="Region not scanned for variation" repeat_region 8106..8402 /rpt_family="Alu" /rpt_type=dispersed variation 8326 /replace="G" /frequency="0.13" variation 8395 /replace="A" /frequency="0.07" repeat_region 8403..8547 /rpt_family="Alu" /rpt_type=dispersed variation 8461 /replace="C" /frequency="0.07" BASE COUNT 2551 a 1479 c 1841 g 2719 t ORIGIN 1 gtatctgtgg gacgtcaggt tctatagtag ctgcgtcacg atgtcatagc tgtttcctga 61 cagagggggg aatctgtggg gcggcaggtg gggggtgttc ggggcggggt ttggggtgtg 121 tgtggcggca ggaggcgggg gaggtctgtg gggcgtcagg ttagggtctg tgaggtgtca 181 ggcggggttt acgtggggtg gcaggtgtgg ggtgtgtgga gagtcaagtg gggggtgtgg 241 ggcgtcagat tgggggtctg ggggatcaga tgggtggtgt ctgggacgtc aggcgggggt 301 cggggggtcg tcaggcgggg gatgtgtggg gagtcaagta ggggaagtgg ggcgtcagat 361 tgggggtctg ggggatccgg tcgtgggggt gtctgggacg tcaggcgggg ggcctgaggg 421 gcgtcaggtg ggggggtctg ggaggcgtca ggcgggggtc ggtctatggg ggcagcaagc 481 agggtgtttg tgcagcggca ggtgatggga gttgccgagt ccacagcgct gtagactgcg 541 ccgcattaga agcctggcct cctgatgctg tgctcttcat ctagacccaa gccccaggtc 601 gtgggacgat ttctcccgtt tttgactccc tggaactgta ttgcctgctt tacctgcgta 661 catgttgatt ctttctcatg gcaaccccgc aggaaaccat caagatctca ttttacagct 721 gggattctct ggttcacaga ggtaacggag cttgcccgag gccaggtatt cactgggaat 781 ccgtgaaggg ttgggggaga gtagggggaa cgggcagagg aatgatgtag actccttagg 841 gattttccat tttccgagag ggtacagggg gcattggagc gggagagact ttaggcttgg 901 agggaattac tttatttctc ttcttacact tggtctttca ttaacttttg ggatcccaaa 961 gcccttctag cgtctttgtc tgctcatttc tttttgctga gattgtccca aattgtcact 1021 aagtgctgtg gaagataggc agctgtaaac cctttgtttc ctagggaaac acagcttgtc 1081 aagggttgca tgaaggatac ttcagttgca ttcgtcactt actccttttt ttcctctctc 1141 ttttttaagt gcaatagcat agcacttaat caccttccat agtcactgaa taaaacctgc 1201 cggtttattt tcatgtgtca cttcaggaca atttagtcag aactgaatga atgatgaatc 1261 gttattgtgt actaattgct tgcattcatt ctcctgaaag ctttgcttat tgttaaagag 1321 tgaagcttct tcccaccttt ttatctcgtt aatattttgc aatatttata ttttaaatgt 1381 tgcttggatc agcaagcatt atagtattaa aattatcaag acttactact ttttaaagca 1441 cattttgtag attatctgat ttttatcttc attctaattt ctacatagtt tttaacccca 1501 ttttatactt taggaaactg aagcttagag aaattaagta attgcccagt atcacacagc 1561 tgttaaatgt taccatccac atttgaactc agatttatta gagtctaaaa cctgagccct 1621 aaccaggaac ctcctcattt gtcttactgc aaatggaatg aatcagctaa aatcctcaga 1681 atccaaaaaa taaaattagc atgtaaaaat gaatggaagt cctaatcttt gactttttat 1741 gccgttgtaa tgagcaaaaa tacttacgac tagtttatgg caattttgga atccttgtta 1801 taggcgtagc cattttagga tacatgtgta tccacaccat tacctacatt ttgtcattat 1861 aaagtaattt aagtccttgc ctgggatttg ttgagcgaaa ctttaacttt gagaccatgt 1921 agaatctata gatatatctg tagaaactat ataccaatat ttgaatatta aagaaatatt 1981 agttaaccta ctttatttta catagtttat atagaaattg tagatatagc attgtgtacc 2041 ctgtttactc ccttgaggga gcaaattttg ggagataggg cagtgaacat acataaccag 2101 gtgttacagt cagttatgca aaccagattc agagagagga aacaacagta tattcaaaga 2161 taaaagtttc aggaaagtgg tctgtcatgc gtttatccct cggatctaac ccactcagta 2221 gaagctgggt ttcctttgtc agaaattaga ctgagaagtg cacctttttt ctctataggc 2281 caccaaatgg ctgttgtaaa ccattgccag ggcagtcaga gctactgaat atttttaacc 2341 aaactgaatc tcacccactg tgtgtctgcg tgcgtgtgtg agtgtgtggt atgtaaccag 2401 accatagctt tccctagtgt gcttatccag gagtcaactc taggtgttca gtaattcatt 2461 cagcaaacct cctacatgtc tgccactaga gcacaaatta cagcacaatt cctggcctct 2521 agatactgac agtatagtaa atgtagtatt gtaattagcc atttgattta ttttactgga 2581 tactagataa tgtagccttg tgcatgtgtg tgttgctcat ttgtttgcga attggaagat 2641 ggggagtcac atattttctg cactgtaata gatctcccca ctcccagcaa aacttctcca 2701 actccactgc ctgggataca tggtggtgtg ccaggagggg tctgaaacca caggataaaa 2761 catagtttct attcatggac catacatttt acttgaaatc tttttttgga aaagttattt 2821 aacattacat agtttaaacc atattaaaat tactctaata tatttatctt ccagtagaac 2881 ttgtatgaat atttaaaact aaagaaattt acacttgtga aattttagga aatattcttg 2941 ccctagctta gcaaggtacc cattatttct tctctgactt tagcagatac tttagggaaa 3001 agctctcccc tcaggacatt ttacgtttgt tttattttgt taaagcactt ggcattttat 3061 tatactcagt ttccactaca ctccccccct ttttttcttt tctttttttt cttttttttt 3121 ttttacagaa tatattttct tttaaagcag aaacatgcag tattttcccc tagcacagtg 3181 tatgtagcac atctcatatg tagtcattaa atactcaggg aataactggc atggaaatat 3241 gaaaaaagca gcatactaat aaatttatac ttataagaca gtaagtaact atggtaaaat 3301 agataaagtg aggattttat gggtagggca ttttgagttg gaatcgaatg ctggtgtgat 3361 ttggcatagc tagcagtgaa gaagtgaaag gaaacataga cgtaggcttt gtttggctgg 3421 aagaagaggg tacctgtttt ttcctttgtt ttgttttttg gtcaagggcc ctgcctatga 3481 ttaggatttc taggaagtca aatttcagtt cagcaaatga gtgatttgtt aaaaatatct 3541 gttcgaagat caagttcatt tctggtgcta tgtggtagtc tgacagggaa agaagagaca 3601 tacatgaaag gccttccctc agaagctcag aagtgaagtg aattaagcct gatgagtttt 3661 tttgtcacca ttattagcaa tatttgtttg tattatgtgc taaataatta atacatagaa 3721 taactggaat ttaaagagaa aattaaaatg atttctgtat tataaataca ggaaatacag 3781 ctatatagct gatgatactt ttcataataa cttcaaatta gggttggagc aaaacagtta 3841 ttaaatgtag aggttgaaaa gatacatcat ttagagcatt gatctttttt tttagtaaac 3901 attaataaac atttattatg atctcagtga tctttgtaag atctttacat taaatattta 3961 gttgaatctt atcttttact taaagttatt ctctttttgc tttactagtt aaacgagaag 4021 attcatcacc gctttgatgg ctgcctcaca aacttcacaa actgttgcat ctcacgttcc 4081 ttttgcagat ttgtgttcaa ctttagaacg aatacagaaa agtaaaggac gtgcagaaaa 4141 aatcagacac ttcagggaat ttttagattc ttggagaaaa tttcatgatg ctcttcataa 4201 gaaccacaaa gatgtcacag actcttttta tccagcaatg agactaattc ttcctcagct 4261 agaaagagag agaatggcct atggaattaa agaaactatg cttgctaagc tttatattga 4321 gttgcttaat ttacctagag atggaaaaga tgccctcaaa cttttaaact acagaacacc 4381 cactggaact catggagatg ctggagactt tgcaatgatt gcatattttg tgttgaagcc 4441 aagatgttta cagaaaggaa gtttaaccat acagcaagta aacgaccttt tagactcaat 4501 tgccagcaat aattctgcta aaagaaaaga cctaataaaa aagagccttc ttcaacttat 4561 aactcagagt tcagcacttg agcaaaagtg gcttatacgg atgatcataa aggatttaaa 4621 gcttggtgtt agtcagcaaa ctatcttttc tgtttttcat aatgatgctg ctgagttgca 4681 taatgtcact acagatctgg aaaaagtctg taggcaactg catgatcctt ctgtaggact 4741 cagtgatatt tctatcactt tattttctgc atttaaacca atgctagctg ctattgcaga 4801 tattgagcac attgagaagg atatgaaaca tcagagtttc tacatagaaa ccaagctaga 4861 tggtgaacgt atgcaaatgc acaaagatgg agatgtatat aaatacttct ctcgaaatgg 4921 atataactac actgatcagt ttggtgcttc tcctactgaa ggttctctta ccccattcat 4981 tcataatgca ttcaaagcag atatacaaat ctgtattctt gatggtgaga tgatggccta 5041 taatcctaat acacaaactt tcatgcaaaa gggaactaag tttgatatta aaagaatggt 5101 agaggattct gatctgcaaa cttgttattg tgtttttgat gtattgatgg ttaataataa 5161 aaagctaggg catgagactc tgagaaagag gtatgagatt cttagtagta tttttacacc 5221 aattccaggt agaatagaaa tagtgcagaa aacacaagct catactaaga atgaagtaat 5281 tgatgcattg aatgaagcaa tagataaaag agaagaggga attatggtaa aacaacctct 5341 atccatctac aagccagaca aaagaggtga agggtggtta aaaattaaac cagagtatgt 5401 cagtggacta atggatgaat tggacatttt aattgttgga ggatattggg gtaaaggatc 5461 acggggtgga atgatgtctc attttctgtg tgcagtagca gagaagcccc ctcctggtga 5521 gaagccatct gtgtttcata ctctctctcg tgttgggtct ggctgcacca tgaaagaact 5581 gtatgatctg ggtttgaaat tggccaagta ttggaagcct tttcatagaa aagctccacc 5641 aagcagcatt ttatgtggaa cagagaagcc agaagtatac attgaacctt gtaattctgt 5701 cattgttcag attaaagcag cagagatcgt acccagtgat atgtataaaa ctggctgcac 5761 cttgcgtttt ccacgaattg aaaagataag agatgacaag gagtggcatg agtgcatgac 5821 cctggacgac ctagaacaac ttagggggaa ggcatctggt aagctcgcat ctaaacacct 5881 ttatataggt ggtgatgatg aaccacaaga aaaaaagcgg aaagctgccc caaagatgaa 5941 gaaagttatt ggaattattg agcacttaaa agcacctaac cttactaacg ttaacaaaat 6001 ttctaatata tttgaagatg tagagttttg tgttatgagt ggaacagata gccagccaaa 6061 gcctgacctg gagaacagaa ttgcagaatt tggtggttat atagtacaaa atccaggccc 6121 agacacgtac tgtgtaattg cagggtctga gaacatcaga gtgaaaaaca taattttgtc 6181 aaataaacat gatgttgtca agcctgcatg gcttttagaa tgttttaaga ccaaaagctt 6241 tgtaccatgg cagcctcgct ttatgattca tatgtgccca tcaaccaaag aacattttgc 6301 ccgtgaatat gattgctatg gtgatagtta tttcattgat acagacttga accaactgaa 6361 ggaagtattc tcaggaatta aaaattctaa cgagcagact cctgaagaaa tggcttctct 6421 gattgctgat ttagaatatc ggtattcctg ggattgctct cctctcagta tgtttcgacg 6481 ccacaccgtt tatttggact cgtatgctgt tattaatgac ctgagtacca aaaatgaggg 6541 gacaaggtta gctattaaag ccttggagct tcggtttcat ggagcaaaag tagtttcttg 6601 tttagctgag ggagtgtctc atgtaataat tggggaagat catagtcgtg ttgcagattt 6661 taaagctttt agaagaactt ttaagagaaa gtttaaaatc ctaaaagaaa gttgggtaac 6721 tgattcaata gacaagtgtg aattacaaga agaaaaccag tatttgattt aaagctaggt 6781 ttcctagtga ggaaagcctc tgatctggca gactcattgc agcaggtggt aatgataaaa 6841 tactaaacta cattttattt ttgtatctta aaaatctatg cctaaaaagt atcattacat 6901 ataggaaaac aataatttta acttttaagg ttgaaaagac aatagcccaa agccaagaaa 6961 gaaaaattat cttgaatgta gtattcaatg attttttatg atcaaggtga aataaacagt 7021 ctaaagaaga ggtgttttta taatatccat atagaaatct agaattttta cttagatact 7081 aataaaatac atttagaaac ttttaaagtc atgaaaaagc attaaccttc taaacagtat 7141 attctaaaaa gtcaaaacgt taacaatagt ttttatctaa taaaagcact gcaagaaaat 7201 agggtagaat tgttacagct ggacttgtaa aaatatgtct ttttactcag ggtttaaaat 7261 gtcccattta aatatgaaat gtaaacaaat ttgtttttta aggttaaggc caaatgtaac 7321 aataaaaccc tgtcgatggt tttagctaaa ttagaggaag ttgtatgaga cttaatgatc 7381 taaaaactta aaattgaatt ggtttgatta aaaataaagc ttgcaatttt aaaagtagct 7441 cacatttaat ttcttgtgtg aaatagaaca tgctttaaag gaagtatttt tatgtgaatt 7501 tgcattccag tataaatagt attcacaaaa aagattttcc tagattttat ctattgaata 7561 ggtgtcaata tggcatgcat attgtaactt tcattagaaa taagttgctt tgacttttaa 7621 aaatgacata gttagattat ttaaagtcaa tgtatatagt atatattatg tatggattta 7681 tataccaaat tttggaatac agcctatctc atgaccatat tgaaatgtac ggaatttgat 7741 ccatgcgata ctatgtgtgc attatttgaa agttattgga aattttattc aaaccgtgga 7801 acaaatgtat gtgattttgt tatacttctt aatttaaata aaatatttaa tgcactatta 7861 aaataatttc ttatgttcta ttctttttaa aacaattcat aatagttgta tcacatagat 7921 ttttttggtg tcagtaaaat tttttttttt ttttttgaga cagagcctcc ctctgttgcc 7981 caggctggag tgcagtggca caatctcagc tcactgcaac ttccgcctcc cgggttcaca 8041 ccactctcct ggctcagcct cccgaatagc tgggactaca ggtgcccgcc accatgtccg 8101 gctaattttt tttttttttt tttttttttg agacggagtc tcgctctgtc gcccaggctg 8161 gagtgcagtg gcgcgatctc ggctcactgc aagctccgcc tcccgggttc acgccattct 8221 cctgcctcag cctccggagt agctgggact acaggcgccc gccaccgtgc ccggctaatt 8281 tttttttttt gtatttttag tagagacggg gtttcaccgt ggtctcgatc tgctgaccgt 8341 gatccacccg cctcggcctc ccaaagtgct gggattacag gcgtgagcca ccacgcccag 8401 ccatgtccgg ctaatttttt gtatttttta gtacagacgg ggtttcacta tattagccag 8461 gatggtctcg atctcctgat ctcgtgttct gcccacctcg gcctcccaag gtactgggat 8521 tacaggcgtg agccaccgtg cccggccagg tgtcagtaaa atttttgact ggtgccaatc 8581 tacttcctct //