LOCUS EU048204 2942 bp mRNA linear HUM 27-NOV-2007
DEFINITION Homo sapiens antisense fragile X mental retardation protein variant
E (ASFMR1) mRNA, complete cds, alternatively spliced.
ACCESSION EU048204
VERSION EU048204.1
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 2942)
AUTHORS Ladd,P.D., Smith,L.E., Rabaia,N.A., Moore,J.M., Georges,S.A.,
Hansen,R.S., Hagerman,R.J., Tassone,F., Tapscott,S.J. and
Filippova,G.N.
TITLE An antisense transcript spanning the CGG repeat region of FMR1 is
upregulated in premutation carriers but silenced in full mutation
individuals
JOURNAL Hum. Mol. Genet. 16 (24), 3174-3187 (2007)
PUBMED 17921506
REFERENCE 2 (bases 1 to 2942)
AUTHORS Ladd,P.D., Smith,L.E., Rabaia,N.A., Moore,J.M., Tapscott,S.J. and
Filippova,G.N.
TITLE Direct Submission
JOURNAL Submitted (19-JUL-2007) Human Biology, Fred Hutchinson Cancer
Research Center, 1100 Fairview Ave North, Seattle, WA 98109, USA
FEATURES Location/Qualifiers
source 1..2942
/db_xref="H-InvDB:HIT000484294"
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="X"
/map="Xq27.3"
/tissue_type="premutation lymphocytes"
/note="premutation sized CGG repeat expansion"
gene 1..2942
/gene="ASFMR1"
CDS 122..424
/gene="ASFMR1"
/note="ASFMRP; antisense transcript overlaps the fragile X
mental retardation gene 1; alternatively spliced"
/codon_start=1
/product="antisense fragile X mental retardation protein
variant E"
/protein_id="ABV80257.1"
/translation="MNILYKCLVESAIGAPHFHHQLLHLLFSPASAGSPPPRGGLRAL
EAQPPPPPPPPPPPPPPPPPPPPRCRTPPGSGASVTAAARARRRPAARSEAALHRK"
BASE COUNT 694 a 752 c 716 g 780 t
ORIGIN
1 cagtcattcc attagtttaa tactgagttg ttcagaaact tctcagtcag taacatgaag
61 atccattcct gaaaagcact caaactggat tgttttcaaa tgcaactgtt attgaatctt
121 catgaacatc ctttacaaat gccttgtaga aagcgccatt ggagccccgc acttccacca
181 ccagctcctc catcttctct tcagccctgc tagcgccggg agcccgcccc cgagaggtgg
241 gctgcgggcg ctcgaggccc agccgccgcc gccgccgccg ccgccgccgc ctccgccgcc
301 gccgccgccg ccgccgccgc cgcgctgccg cacgccccct ggcagcggcg cctccgtcac
361 cgccgccgcc cgcgctcgcc gtcggcccgc cgcccgctca gaggcggccc tccaccggaa
421 gtgaaaccga aacggagctg agcgcctgac tgaggccgaa cccccggccc gctgcgggtg
481 taaacactga aaccacgtca cgtgatcaac gctgttccct ccccccgcgg gctcagcccc
541 tcggccccgc cctctctctt caagtggcct gggagcgcgc gcatgcgcgc tgctgggaac
601 cggccggggt gccgggtcga aagacagacg cgcgggccgg gcgtgcgcgg gcttggtgga
661 gggcgggaag gctgaagggc ggtgacaggt cgcactgcct cgcgagggcc agaacgccca
721 tttctgcaga ggtgcactca gtggcgtggg aaatcaaatg catccggtta tcccagttcg
781 gcctctctgg gattccgcgg gagggggtgt ctggtctggt ttggtttggt ttggtttggt
841 ttggtttggt ccggttcaaa gtagcgcagt ctgactgagc gggaggtgga gtggaaggcg
901 agaatagggg tgaaggatta gacagaagaa gactttgaac taggaacagt ggcaaccagg
961 gtgacccagg cttttgtgac ccgtagaggc agaaggtgag gcgtctacgc cctctctcac
1021 cagattttgg gcggccctgt ggagacaccc tgtgcccttt aagggacatg gattgagtcg
1081 ggatctcaaa atgtgagcct ttcctcagac ccagctttga cccacgtact cgcctttcct
1141 caactcattt tcatactttc acttgactat atatttttta aaaattgtgt taagcacttg
1201 aggttcattt ctgcccctac tgtatgtgca ccctgtgcca gagggtgggg tgaacacgtg
1261 tgtagcagtc atgcgtcctg tccacagggg ccgatgcacc tccttgcaac cctttacatt
1321 ccactgtgaa acaaacctca actttttctt attcctgttt ttacaccgtg cttatagctg
1381 ccttaatcca tgttcccttc gggatgctgg tatccaactg agaagttgac ggagcatcta
1441 tcgtgtgcca gacactgtgc taagtgctaa cgagaaatcg gtgagcaaaa cagaaaagaa
1501 aaaaaaagaa gaaacgactg ccagcattga acttagtacc tagcaaagta ggtggacata
1561 aatcaaattg tcagacaagt aaatgagtag ttgcagctgt gataaggggt atgaagaata
1621 ggcgcttcca tgatggcgga acatgaccta gtctggggtg gagaagggga gatgattcca
1681 gctggaatat ggcaggtgag agttaactaa tagcactgag ttggcagagg caggatgacc
1741 tgccccaggc aggtgcccca gaatgagagg atgttgctgc tggtggaact ccagctttaa
1801 agcggtggat ctagggccac attcctcaag gccatagcaa acaggaaaga ccttttggac
1861 tagggtcttt ggagtagtca catgaggcca agaacccaat agggctgaaa gagaatctca
1921 tcataggctg aatgggagca gagcattagc tgcaactcca atgtattata gtaaaagggg
1981 acacattgat tagaatgatt atacccctcc aagtgtaagc tgttgttcaa tttacccagg
2041 gcttaaaaat atgtcaactc ttcacaacca tttttactac aagccacact caacctgtgt
2101 tgttccctga acctgtgatg cactttcatc cgttcatgtc tctacacatc cttcctgggc
2161 cccatagagg ccctgcacct taaggttttc agctggattc ctattagcta gttattttat
2221 ctcaggtaca gagagttaac tttgctcctc aattttcagc acattgtcat atcagtccct
2281 acagggtcct tgtttacatt attttatagt gtttatatta ttttttcctc atctttctcg
2341 atccccactc tcattcttct agacacaagc tgcaatatgt tcgatagaga tccttgataa
2401 tttaacacag ataatgtttt gtttatgcct cttgcattta cagagatggt attggactgt
2461 aaatctctat ttcccactgt tttactcaac agtctgtttt tgagctatac ccacattgct
2521 gtgtgtacac ctagtttgct accgagtatg ccagaaattt tattcataca tatccctact
2581 gatcgggcat ctaggttact gccaactccc tgaagtcata ctgtggtgaa aacccttgtg
2641 aatgtcttta caaacctttg ccagaactta ttttgtgctc ttgtagaact ttgtgcatac
2701 cctctgcttc ctcattacac tgcttggcat atagcagaga ctcaacaaat gttgaatacc
2761 tctactatga tggttagtgt actagaataa tttatttata tttctgtttt ccttattgga
2821 ttattagtac cttccagaca gggcaaatgt cttttctatc tttgtgtccc tggcacatta
2881 aaagtggttg atttcaaggt atgttcaatg aatgaataaa tacttatctt cactgccagt
2941 ac
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