LOCUS       NM_001242939            3039 bp    mRNA    linear   PRI 02-APR-2024
DEFINITION  Homo sapiens FAM47E-STBD1 readthrough (FAM47E-STBD1), mRNA.
ACCESSION   NM_001242939
VERSION     NM_001242939.2
KEYWORDS    RefSeq.
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 3039)
  AUTHORS   Nalls,M.A., Pankratz,N., Lill,C.M., Do,C.B., Hernandez,D.G.,
            Saad,M., DeStefano,A.L., Kara,E., Bras,J., Sharma,M., Schulte,C.,
            Keller,M.F., Arepalli,S., Letson,C., Edsall,C., Stefansson,H.,
            Liu,X., Pliner,H., Lee,J.H., Cheng,R., Ikram,M.A., Ioannidis,J.P.,
            Hadjigeorgiou,G.M., Bis,J.C., Martinez,M., Perlmutter,J.S.,
            Goate,A., Marder,K., Fiske,B., Sutherland,M., Xiromerisiou,G.,
            Myers,R.H., Clark,L.N., Stefansson,K., Hardy,J.A., Heutink,P.,
            Chen,H., Wood,N.W., Houlden,H., Payami,H., Brice,A., Scott,W.K.,
            Gasser,T., Bertram,L., Eriksson,N., Foroud,T. and Singleton,A.B.
  CONSRTM   International Parkinson's Disease Genomics Consortium (IPDGC);
            Parkinson's Study Group (PSG) Parkinson's Research: The Organized
            GENetics Initiative (PROGENI); 23andMe; GenePD; NeuroGenetics
            Research Consortium (NGRC); Hussman Institute of Human Genomics
            (HIHG); Ashkenazi Jewish Dataset Investigator; Cohorts for Health
            and Aging Research in Genetic Epidemiology (CHARGE); North American
            Brain Expression Consortium (NABEC); United Kingdom Brain
            Expression Consortium (UKBEC); Greek Parkinson's Disease
            Consortium; Alzheimer Genetic Analysis Group
  TITLE     Large-scale meta-analysis of genome-wide association data
            identifies six new risk loci for Parkinson's disease
  JOURNAL   Nat Genet 46 (9), 989-993 (2014)
   PUBMED   25064009
REFERENCE   2  (bases 1 to 3039)
  AUTHORS   Do,C.B., Tung,J.Y., Dorfman,E., Kiefer,A.K., Drabant,E.M.,
            Francke,U., Mountain,J.L., Goldman,S.M., Tanner,C.M.,
            Langston,J.W., Wojcicki,A. and Eriksson,N.
  TITLE     Web-based genome-wide association study identifies two novel loci
            and a substantial genetic component for Parkinson's disease
  JOURNAL   PLoS Genet 7 (6), e1002141 (2011)
   PUBMED   21738487
REFERENCE   3  (bases 1 to 3039)
  AUTHORS   Prakash,T., Sharma,V.K., Adati,N., Ozawa,R., Kumar,N., Nishida,Y.,
            Fujikake,T., Takeda,T. and Taylor,T.D.
  TITLE     Expression of conjoined genes: another mechanism for gene
            regulation in eukaryotes
  JOURNAL   PLoS One 5 (10), e13284 (2010)
   PUBMED   20967262
  REMARK    Publication Status: Online-Only
REFERENCE   4  (bases 1 to 3039)
  AUTHORS   Simon-Sanchez,J., Schulte,C., Bras,J.M., Sharma,M., Gibbs,J.R.,
            Berg,D., Paisan-Ruiz,C., Lichtner,P., Scholz,S.W., Hernandez,D.G.,
            Kruger,R., Federoff,M., Klein,C., Goate,A., Perlmutter,J.,
            Bonin,M., Nalls,M.A., Illig,T., Gieger,C., Houlden,H., Steffens,M.,
            Okun,M.S., Racette,B.A., Cookson,M.R., Foote,K.D., Fernandez,H.H.,
            Traynor,B.J., Schreiber,S., Arepalli,S., Zonozi,R., Gwinn,K., van
            der Brug,M., Lopez,G., Chanock,S.J., Schatzkin,A., Park,Y.,
            Hollenbeck,A., Gao,J., Huang,X., Wood,N.W., Lorenz,D., Deuschl,G.,
            Chen,H., Riess,O., Hardy,J.A., Singleton,A.B. and Gasser,T.
  TITLE     Genome-wide association study reveals genetic risk underlying
            Parkinson's disease
  JOURNAL   Nat Genet 41 (12), 1308-1312 (2009)
   PUBMED   19915575
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AK092277.1 and AC034139.7.
            
            On Aug 13, 2020 this sequence version replaced NM_001242939.1.
            
            Summary: This locus represents naturally occurring read-through
            transcription between the neighboring FAM47E (family with sequence
            similarity 47, member E) and STBD1 (starch binding domain 1) genes
            on chromosome 4. The read-through transcript encodes a protein that
            shares sequence identity with the upstream gene product but its
            C-terminal region is distinct due to frameshifts relative to the
            downstream gene. [provided by RefSeq, Jul 2011].
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK092277.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2144120 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            readthrough transcript :: includes exons from GeneID 8987,
                                      100129583
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-2049              AK092277.1         1-2049
            2050-3039           AC034139.7         97321-98310
FEATURES             Location/Qualifiers
     source          1..3039
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q21.1"
     gene            1..3039
                     /gene="FAM47E-STBD1"
                     /gene_synonym="FAM47E"
                     /note="FAM47E-STBD1 readthrough"
                     /db_xref="GeneID:100631383"
                     /db_xref="HGNC:HGNC:44667"
     exon            1..100
                     /gene="FAM47E-STBD1"
                     /gene_synonym="FAM47E"
                     /inference="alignment:Splign:2.1.0"
     CDS             27..1082
                     /gene="FAM47E-STBD1"
                     /gene_synonym="FAM47E"
                     /note="Protein FAM47E"
                     /codon_start=1
                     /product="uncharacterized protein LOC100631383"
                     /protein_id="NP_001229868.1"
                     /db_xref="GeneID:100631383"
                     /db_xref="HGNC:HGNC:44667"
                     /translation="MADRRRRLRPGTLAPVREGVNCRSRCFTKHKNGLKFPTSLHSRQ
                     LVFPRKGLDDFRKGCPPCTGLVTQVPVEGFLPQIYHRAPQLAPKKRQIKLLKEADVLS
                     KLSPAQQARKAFLEDVEAHLTPHPLALYLNLEEAMPIELLSKVLEVLDPDRKLEDTWA
                     YCQDTRKGMKEPTKLLKKHSTQVYLGPSKKTSVSNAGQWLYEEKPHKMDLLHENGPRP
                     GLHENGISDIDEEFILKQFDIDYETKPSHDALHTMKLNQVPLELKRSVGLSKLQETEF
                     FQKLGYERKLQKPQNPYKPKWVKMRYGAWYLNPKLWKKQRVDEPLVDPEVSHKAQEEN
                     FKKELQEQSIFKKAMDI"
     exon            101..446
                     /gene="FAM47E-STBD1"
                     /gene_synonym="FAM47E"
                     /inference="alignment:Splign:2.1.0"
     exon            447..586
                     /gene="FAM47E-STBD1"
                     /gene_synonym="FAM47E"
                     /inference="alignment:Splign:2.1.0"
     exon            587..695
                     /gene="FAM47E-STBD1"
                     /gene_synonym="FAM47E"
                     /inference="alignment:Splign:2.1.0"
     exon            696..896
                     /gene="FAM47E-STBD1"
                     /gene_synonym="FAM47E"
                     /inference="alignment:Splign:2.1.0"
     exon            897..1052
                     /gene="FAM47E-STBD1"
                     /gene_synonym="FAM47E"
                     /inference="alignment:Splign:2.1.0"
     exon            1053..3039
                     /gene="FAM47E-STBD1"
                     /gene_synonym="FAM47E"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3013..3018
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FAM47E-STBD1"
                     /gene_synonym="FAM47E"
                     /note="hexamer: AATAAA"
     polyA_site      3039
                     /gene="FAM47E-STBD1"
                     /gene_synonym="FAM47E"
                     /note="major polyA site"
ORIGIN      
        1 acggtggccg cgaagctagg gccaccatgg cggaccgcag gcggcggctc cggccgggga
       61 cgttggcccc ggtgcgcgag ggcgtgaact gcaggtccag atgtttcaca aagcacaaga
      121 acgggctgaa gttccccacc tctctgcaca gccggcagtt ggtatttcca agaaaggggc
      181 tggacgactt caggaagggc tgcccgcctt gcactggtct ggtgactcag gtccctgtgg
      241 agggctttct gccccagatt tatcacagag ctccccaact ggccccaaag aagaggcaga
      301 tcaagctgct caaggaagca gacgtgcttt ccaagctctc gccagcccag caggctcgga
      361 aggcattcct ggaggacgtg gaggcccacc tgaccccaca tcccttagcg ctctacctga
      421 atctggaaga agctatgccc atagagctct tatcaaaggt gctggaagtg cttgatcctg
      481 accggaagct ggaggacaca tgggcttatt gtcaggacac caggaaagga atgaaggaac
      541 ccacgaagct tttaaaaaaa cattctaccc aagtctacct gggaccttcc aagaagacgt
      601 ctgtgtcaaa cgcaggccaa tggctttatg aagaaaagcc acataaaatg gatttgctcc
      661 atgaaaatgg tcctcgtcct ggtcttcatg aaaatggaat ttcggacatc gatgaagagt
      721 tcatcttgaa acagtttgac attgactatg agaccaaacc aagccatgat gcgctccaca
      781 cgatgaagct aaatcaggtt cctctggagc taaagcgtag tgtggggctc agtaaactgc
      841 aggagacaga gttcttccag aaactaggct atgagaggaa actccagaaa ccacagaatc
      901 cttataagcc aaagtgggtg aagatgaggt atggagcatg gtatttgaac cccaagttgt
      961 ggaaaaagca aagagtagac gagcctctgg ttgaccctga ggtctcacat aaggctcaag
     1021 aggagaattt taaaaaggag ctgcaggaac agagcatctt caagaaagca atggacattt
     1081 gatttctaag accaaagacc ttggtaaact gcaagcagca tcatggagat tgcagaatcc
     1141 ttccagggaa gtctgtgaca attcaagaga acatgttcct tctggacagt ttccagacac
     1201 agaagctcca gctacctctg agaccagtaa ctctaggagt tactctgaag tttcaagaaa
     1261 tgaaagcctt gaatctccta tgggagaatg gggattccaa aaaggacaag agatatctgc
     1321 taaagcagct acatgttttg cagagaagtt gccttctagc aacctgctca agaacagagc
     1381 taaagaagaa atgagcctct ctgatttgaa cagtcaggac cgggttgacc acgaggagtg
     1441 ggaaatggtg cctaggcact catcttgggg ggatgttggt gtgggtggca gtcttaaggc
     1501 tccagtgtta aacctaaacc agggaatgga caatggaaga agcactttgg tggaagcaag
     1561 aggtcagcaa gtgcatggga aaatggaaag ggtagcagtg atgcctgcag ggtctcagca
     1621 agttagtgtc aggttccagg tccattatgt cacaagcact gatgtgcaat tcattgcagt
     1681 aactggagac catgagtgtc ttgggagatg gaacacttac atcccactcc actataacaa
     1741 ggatgggttc tggtctcatt ccattttcct gcctgcagat acagtggtgg agtggaagtt
     1801 tgtgttggta gagaatgggg gagttacccg ctgggaagaa tgcagcaata gattcctaga
     1861 aactggccat gaggataaag tggttcacgc atggtggggg attcactgat tcagtttgca
     1921 aagtaatgga gaagctgtag aacaatgtgg aagaggctga ggttgtggaa cacactgaat
     1981 aaaataaagg cagtgtgact ccaaattcag ccatctgaat tgtttaaatt tgctagtgga
     2041 ttttgtctaa tgtgcagaaa tatatatgtc taatgtgcag aaatatatat gtgtgtatgt
     2101 gtgtatatat atgcacacac acacagataa tgcttccagt gaatgtgaac ttcttttccc
     2161 tgtggcactg attgacagac ttgtgctgat ccattattac tttagggctt gattctcttg
     2221 gggagtgact tggctaagct tcaggtgtaa actgtggtca cggagcaaaa acattaacca
     2281 gctgcccagg gttcaagctt gagcctttag gtgatcttta aactatggta gtaaaataag
     2341 cctcactcaa acatagctga cttcctattg gtacagcttg aaaagcactt tttactacat
     2401 acacatttta tgcttaaaaa gttaacatga tacgaaactg tgattagaaa atatctggtc
     2461 tggatgtgat tagtaaggat acaagataat gttctaagac tgcctaatgc tttttgtttg
     2521 attttcatct gccaggcgtt gttatgtgct atgagggtag caagtacgtc tttgtcttaa
     2581 tgatctaagg ctggtgtaga aacaaagggc ctaatgagaa ccaatcatca tggaagtcag
     2641 ttgcgggggc agcccataag gaaagggaaa gtgagtgggg ttgggcatag gctgagtgag
     2701 gtggcctgaa tgacacctct tagaggactg tgaagtacag gcacagcccg actgcaggga
     2761 gggatgcacc catcatttac ccatgggagc atctgtagga ccatctctct cccacttctt
     2821 ctcccctccc ccaccgcatc tggccagatg gactgtccta cagcaatcgt ttccatctgt
     2881 caccctcttc cctctccttt cataccagtc actatcttgg gtaacaaatt tatacaggac
     2941 agtggtacag aaatacatct ttgctctgag aatacagcaa atattaactt aaattattat
     3001 aactgaacaa ataataaaac ctgaatttta atatcttca
//
