LOCUS       sequence-442951-        5397 bp    DNA     circular SYN 15-DEC-2025
DEFINITION  Luciferase vector containing the hs737 enhancer sequence (sequence 
            containing variant 2). Variant 2 is chr10:128569418-T-C where the 
            information is chromosome:positionInB38-RefAllele-AltAllele..
ACCESSION   .
VERSION     .
KEYWORDS    .
SOURCE      synthetic DNA construct
  ORGANISM  synthetic DNA construct
REFERENCE   1  (bases 1 to 5397)
  AUTHORS   Padhi EM, Hayeck TJ, Cheng Z, Chatterjee S, Mannion BJ, 
            Byrska-Bishop M, Willems M, Pinson L, Redon S, Benech C, Uguen K, 
            Audebert-Bellanger S, Le Marechal C, Ferec C, Efthymiou S, Rahman F,
            Maqbool S, Maroofian R, Houlden H, Musunuri R, Narzisi G, Abhyankar 
            A, Hunter RD, Akiyama J, Fries LE, Ng JK, Mehinovic E, Stong N, 
            Allen AS, Dickel DE, Bernier RA, Gorkin DU, Pennacchio LA, Zody MC, 
            Turner TN
  TITLE     Coding and noncoding variants in EBF3 are involved in HADDS and 
            simplex autism.
  JOURNAL   Hum Genomics. 2021 Jul 13;15(1):44. doi: 10.1186/s40246-021-00342-3.
  PUBMED    34256850
REFERENCE   2  (bases 1 to 5397)
  AUTHORS   .
  TITLE     Direct Submission
  JOURNAL   Exported Dec 15, 2025 from SnapGene Server 8.0.1
            https://www.snapgene.com
COMMENT     SGRef: number: 1; type: "Journal Article"; journalName: "Hum 
            Genomics."; date: "2021-07-13"; volume: "15(1):44. doi"; pages: " 
            10.1186/s40246-021-00342-3"
COMMENT     Sequence Label: pGL4.23-hs737.2
FEATURES             Location/Qualifiers
     source          1..5397
                     /mol_type="other DNA"
                     /organism="synthetic DNA construct"
     promoter        1191..1222
                     /label=minP
                     /note="minimal TATA-box promoter with low basal activity"
     regulatory      1249..1258
                     /label=Kozak sequence
                     /note="vertebrate consensus sequence for strong initiation 
                     of translation (Kozak, 1987)"
                     /regulatory_class="other"
     CDS             1255..2907
                     /codon_start=1
                     /product="firefly luciferase"
                     /label=luciferase
                     /note="synthetic luc2 version of the luciferase gene"
                     /translation="MEDAKNIKKGPAPFYPLEDGTAGEQLHKAMKRYALVPGTIAFTDA
                     HIEVDITYAEYFEMSVRLAEAMKRYGLNTNHRIVVCSENSLQFFMPVLGALFIGVAVAP
                     ANDIYNERELLNSMGISQPTVVFVSKKGLQKILNVQKKLPIIQKIIIMDSKTDYQGFQS
                     MYTFVTSHLPPGFNEYDFVPESFDRDKTIALIMNSSGSTGLPKGVALPHRTACVRFSHA
                     RDPIFGNQIIPDTAILSVVPFHHGFGMFTTLGYLICGFRVVLMYRFEEELFLRSLQDYK
                     IQSALLVPTLFSFFAKSTLIDKYDLSNLHEIASGGAPLSKEVGEAVAKRFHLPGIRQGY
                     GLTETTSAILITPEGDDKPGAVGKVVPFFEAKVVDLDTGKTLGVNQRGELCVRGPMIMS
                     GYVNNPEATNALIDKDGWLHSGDIAYWDEDEHFFIVDRLKSLIKYKGYQVAPAELESIL
                     LQHPNIFDAGVAGLPDDDAGELPAAVVVLEHGKTMTEKEIVDYVASQVTTAKKLRGGVV
                     FVDEVPKGLTGKLDARKIREILIKAKKGGKIAV"
     polyA_signal    2951..3072
                     /label=SV40 poly(A) signal
                     /note="SV40 polyadenylation signal"
     primer_bind     complement(2962..2981)
                     /label=EBV-rev
                     /note="SV40 polyA terminator, reverse primer"
     primer_bind     3016..3035
                     /label=SV40pA-R
                     /note="SV40 polyA, reverse primer"
     primer_bind     complement(3320..3337)
                     /label=L4440
                     /note="L4440 vector, forward primer"
     rep_origin      complement(3491..4079)
                     /direction=LEFT
                     /label=ori
                     /note="high-copy-number ColE1/pMB1/pBR322/pUC origin of 
                     replication"
     primer_bind     complement(3571..3590)
                     /label=pBR322ori-F
                     /note="pBR322 origin, forward primer"
     CDS             complement(join(4279..5070,5071..5139))
                     /codon_start=1
                     /product="beta-lactamase"
                     /label=AmpR
                     /note="confers resistance to ampicillin, carbenicillin, and
                     related antibiotics"
                     /translation="MSIQHFRVALIPFFAAFCLPVFAHPETLVKVKDAEDQLGARVGYI
                     ELDLNSGKILESFRPEERFPMMSTFKVLLCGAVLSRIDAGQEQLGRRIHYSQNDLVEYS
                     PVTEKHLTDGMTVRELCSAAITMSDNTAANLLLTTIGGPKELTAFLHNMGDHVTRLDRW
                     EPELNEAIPNDERDTTMPVAMATTLRKLLTGELLTLASRQQLIDWMEADKVAGPLLRSA
                     LPAGWFIADKSGAGERGSRGIIAALGPDGKPSRIVVIYTTGSQATMDERNRQIAEIGAS
                     LIKHW"
     polyA_signal    5244..5292
                     /note="synthetic polyadenylation signal"
     misc_feature    5306..5397
                     /label=pause site
                     /note="RNA polymerase II transcriptional pause signal from 
                     the human alpha-2 globin gene"
     primer_bind     5346..5365
                     /label=RVprimer3
                     /note="pGL3 vector, forward primer"
ORIGIN
        1 ggcctaactg gccggtacct gagctcgcta gcctcgagga tatcgacaat gcgctggaaa
       61 atctccgcgg atgtggaggc cgtgtttggt tttctctgtg tgtgtgtttt ctctaaagcc
      121 ataagtgcgc aacaatgaaa tcttacttgc agagatcccc attatgcatc ggtcccctga
      181 agctgctgag atgacaccac ctcttacagg tggcagagag aatgcggcaa acccctgaag
      241 tctcaagtca cagcaatcat cttcaactcc caaattgtcc tggaaggaga gtggcatcgg
      301 atttgtctta ggctgtttgg ccaaactggg gcacagatgg gataatgact tttacaaaca
      361 gcattttgat gagaggaggg gagaaggaat catatgtaaa atgcacaaag gctgcataaa
      421 cacactgatg cctgcagctg gaacaaacta aaaagatgtt taataattta gaaccaagca
      481 ggcagggcct gtgcagctgt tgtgtgcagg ggaccatgaa agtcttccat ttgacagctg
      541 gccccatctt tccccagttg ctacgtgaag aagagaatgc agatctggga ttagccaatc
      601 cctgttaccc ttgcccatct gccaccaaga cccccagctc tgcctccctc gcagaaaggc
      661 gcacacataa agaaggctgg ccttcccaag catatgcatg cgtcgctatt agccgtcagg
      721 gccgcccgct cccaggatct gttgacacgc cgccagtaca tggctgctgt cgtttttgct
      781 ggagggcaca ttttgcattt cacacatttg cagaaataca aaatgctgtt ggatgcaaac
      841 aattcagggc ctaactggct gaattacttc aatgttacct tgtgtccccc acctgattaa
      901 catagctcag ctgggagggc tggggaagga ggaggagaga gggatttgga gggcaggtga
      961 agctgtgttt gcccaggaaa gcgagatcct tagcgaagtc ccagctgagt gtggcctgtg
     1021 ccaagcagat agctgagtgc gggaggggcc gtgcaggctg cattcttcca caggacgccc
     1081 ggaggagggg gctctgtgga ggaacaataa aatttcaggg cacagaggag gcaggctgtc
     1141 ggggaggagc ggggggcagt gccccttttg tgagatgtaa gcttagacac tagagggtat
     1201 ataatggaag ctcgacttcc agcttggcaa tccggtactg ttggtaaagc caccatggaa
     1261 gatgccaaaa acattaagaa gggcccagcg ccattctacc cactcgaaga cgggaccgcc
     1321 ggcgagcagc tgcacaaagc catgaagcgc tacgccctgg tgcccggcac catcgccttt
     1381 accgacgcac atatcgaggt ggacattacc tacgccgagt acttcgagat gagcgttcgg
     1441 ctggcagaag ctatgaagcg ctatgggctg aatacaaacc atcggatcgt ggtgtgcagc
     1501 gagaatagct tgcagttctt catgcccgtg ttgggtgccc tgttcatcgg tgtggctgtg
     1561 gccccagcta acgacatcta caacgagcgc gagctgctga acagcatggg catcagccag
     1621 cccaccgtcg tattcgtgag caagaaaggg ctgcaaaaga tcctcaacgt gcaaaagaag
     1681 ctaccgatca tacaaaagat catcatcatg gatagcaaga ccgactacca gggcttccaa
     1741 agcatgtaca ccttcgtgac ttcccatttg ccacccggct tcaacgagta cgacttcgtg
     1801 cccgagagct tcgaccggga caaaaccatc gccctgatca tgaacagtag tggcagtacc
     1861 ggattgccca agggcgtagc cctaccgcac cgcaccgctt gtgtccgatt cagtcatgcc
     1921 cgcgacccca tcttcggcaa ccagatcatc cccgacaccg ctatcctcag cgtggtgcca
     1981 tttcaccacg gcttcggcat gttcaccacg ctgggctact tgatctgcgg ctttcgggtc
     2041 gtgctcatgt accgcttcga ggaggagcta ttcttgcgca gcttgcaaga ctataagatt
     2101 caatctgccc tgctggtgcc cacactattt agcttcttcg ctaagagcac tctcatcgac
     2161 aagtacgacc taagcaactt gcacgagatc gccagcggcg gggcgccgct cagcaaggag
     2221 gtaggtgagg ccgtggccaa acgcttccac ctaccaggca tccgccaggg ctacggcctg
     2281 acagaaacaa ccagcgccat tctgatcacc cccgaagggg acgacaagcc tggcgcagta
     2341 ggcaaggtgg tgcccttctt cgaggctaag gtggtggact tggacaccgg taagacactg
     2401 ggtgtgaacc agcgcggcga gctgtgcgtc cgtggcccca tgatcatgag cggctacgtt
     2461 aacaaccccg aggctacaaa cgctctcatc gacaaggacg gctggctgca cagcggcgac
     2521 atcgcctact gggacgagga cgagcacttc ttcatcgtgg accggctgaa gagcctgatc
     2581 aaatacaagg gctaccaggt agccccagcc gaactggaga gcatcctgct gcaacacccc
     2641 aacatcttcg acgccggggt cgccggcctg cccgacgacg atgccggcga gctgcccgcc
     2701 gcagtcgtcg tgctggaaca cggtaaaacc atgaccgaga aggagatcgt ggactatgtg
     2761 gccagccagg ttacaaccgc caagaagctg cgcggtggtg ttgtgttcgt ggacgaggtg
     2821 cctaaaggac tgaccggcaa gttggacgcc cgcaagatcc gcgagattct cattaaggcc
     2881 aagaagggcg gcaagatcgc cgtgtaataa ttctagagtc ggggcggccg gccgcttcga
     2941 gcagacatga taagatacat tgatgagttt ggacaaacca caactagaat gcagtgaaaa
     3001 aaatgcttta tttgtgaaat ttgtgatgct attgctttat ttgtaaccat tataagctgc
     3061 aataaacaag ttaacaacaa caattgcatt cattttatgt ttcaggttca gggggaggtg
     3121 tgggaggttt tttaaagcaa gtaaaacctc tacaaatgtg gtaaaatcga taaggatccg
     3181 tcgaccgatg cccttgagag ccttcaaccc agtcagctcc ttccggtggg cgcggggcat
     3241 gactatcgtc gccgcactta tgactgtctt ctttatcatg caactcgtag gacaggtgcc
     3301 ggcagcgctc ttccgcttcc tcgctcactg actcgctgcg ctcggtcgtt cggctgcggc
     3361 gagcggtatc agctcactca aaggcggtaa tacggttatc cacagaatca ggggataacg
     3421 caggaaagaa catgtgagca aaaggccagc aaaaggccag gaaccgtaaa aaggccgcgt
     3481 tgctggcgtt tttccatagg ctccgccccc ctgacgagca tcacaaaaat cgacgctcaa
     3541 gtcagaggtg gcgaaacccg acaggactat aaagatacca ggcgtttccc cctggaagct
     3601 ccctcgtgcg ctctcctgtt ccgaccctgc cgcttaccgg atacctgtcc gcctttctcc
     3661 cttcgggaag cgtggcgctt tctcatagct cacgctgtag gtatctcagt tcggtgtagg
     3721 tcgttcgctc caagctgggc tgtgtgcacg aaccccccgt tcagcccgac cgctgcgcct
     3781 tatccggtaa ctatcgtctt gagtccaacc cggtaagaca cgacttatcg ccactggcag
     3841 cagccactgg taacaggatt agcagagcga ggtatgtagg cggtgctaca gagttcttga
     3901 agtggtggcc taactacggc tacactagaa gaacagtatt tggtatctgc gctctgctga
     3961 agccagttac cttcggaaaa agagttggta gctcttgatc cggcaaacaa accaccgctg
     4021 gtagcggtgg tttttttgtt tgcaagcagc agattacgcg cagaaaaaaa ggatctcaag
     4081 aagatccttt gatcttttct acggggtctg acgctcagtg gaacgaaaac tcacgttaag
     4141 ggattttggt catgagatta tcaaaaagga tcttcaccta gatcctttta aattaaaaat
     4201 gaagttttaa atcaatctaa agtatatatg agtaaacttg gtctgacagc ggccgcaaat
     4261 gctaaaccac tgcagtggtt accagtgctt gatcagtgag gcaccgatct cagcgatctg
     4321 cctatttcgt tcgtccatag tggcctgact ccccgtcgtg tagatcacta cgattcgtga
     4381 gggcttacca tcaggcccca gcgcagcaat gatgccgcga gagccgcgtt caccggcccc
     4441 cgatttgtca gcaatgaacc agccagcagg gagggccgag cgaagaagtg gtcctgctac
     4501 tttgtccgcc tccatccagt ctatgagctg ctgtcgtgat gctagagtaa gaagttcgcc
     4561 agtgagtagt ttccgaagag ttgtggccat tgctactggc atcgtggtat cacgctcgtc
     4621 gttcggtatg gcttcgttca actctggttc ccagcggtca agccgggtca catgatcacc
     4681 catattatga agaaatgcag tcagctcctt agggcctccg atcgttgtca gaagtaagtt
     4741 ggccgcggtg ttgtcgctca tggtaatggc agcactacac aattctctta ccgtcatgcc
     4801 atccgtaaga tgcttttccg tgaccggcga gtactcaacc aagtcgtttt gtgagtagtg
     4861 tatacggcga ccaagctgct cttgcccggc gtctatacgg gacaacaccg cgccacatag
     4921 cagtactttg aaagtgctca tcatcgggaa tcgttcttcg gggcggaaag actcaaggat
     4981 cttgccgcta ttgagatcca gttcgatata gcccactctt gcacccagtt gatcttcagc
     5041 atcttttact ttcaccagcg tttcggggtg tgcaaaaaca ggcaagcaaa atgccgcaaa
     5101 gaagggaatg agtgcgacac gaaaatgttg gatgctcata ctcgtccttt ttcaatatta
     5161 ttgaagcatt tatcagggtt actagtacgt ctctcaagga taagtaagta atattaaggt
     5221 acgggaggta ttggacaggc cgcaataaaa tatctttatt ttcattacat ctgtgtgttg
     5281 gttttttgtg tgaatcgata gtactaacat acgctctcca tcaaaacaaa acgaaacaaa
     5341 acaaactagc aaaataggct gtccccagtg caagtgcagg tgccagaaca tttctct
//
