LOCUS       NM_001100159            2102 bp    mRNA    linear   PRI 04-APR-2024
DEFINITION  Homo sapiens chromosome 7 open reading frame 57 (C7orf57),
            transcript variant 1, mRNA.
ACCESSION   NM_001100159 XM_059832 XM_374435 XM_937047
VERSION     NM_001100159.3
KEYWORDS    RefSeq; MANE Select.
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 2102)
  AUTHORS   Chio,A., Schymick,J.C., Restagno,G., Scholz,S.W., Lombardo,F.,
            Lai,S.L., Mora,G., Fung,H.C., Britton,A., Arepalli,S., Gibbs,J.R.,
            Nalls,M., Berger,S., Kwee,L.C., Oddone,E.Z., Ding,J., Crews,C.,
            Rafferty,I., Washecka,N., Hernandez,D., Ferrucci,L., Bandinelli,S.,
            Guralnik,J., Macciardi,F., Torri,F., Lupoli,S., Chanock,S.J.,
            Thomas,G., Hunter,D.J., Gieger,C., Wichmann,H.E., Calvo,A.,
            Mutani,R., Battistini,S., Giannini,F., Caponnetto,C.,
            Mancardi,G.L., La Bella,V., Valentino,F., Monsurro,M.R.,
            Tedeschi,G., Marinou,K., Sabatelli,M., Conte,A., Mandrioli,J.,
            Sola,P., Salvi,F., Bartolomei,I., Siciliano,G., Carlesi,C.,
            Orrell,R.W., Talbot,K., Simmons,Z., Connor,J., Pioro,E.P.,
            Dunkley,T., Stephan,D.A., Kasperaviciute,D., Fisher,E.M.,
            Jabonka,S., Sendtner,M., Beck,M., Bruijn,L., Rothstein,J.,
            Schmidt,S., Singleton,A., Hardy,J. and Traynor,B.J.
  TITLE     A two-stage genome-wide association study of sporadic amyotrophic
            lateral sclerosis
  JOURNAL   Hum Mol Genet 18 (8), 1524-1532 (2009)
   PUBMED   19193627
  REMARK    GeneRIF: Observational study and genome-wide association study of
            gene-disease association. (HuGE Navigator)
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BC031107.1, AC069279.6 and BC045737.1.
            
            On Nov 22, 2018 this sequence version replaced NM_001100159.2.
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (1).
            
            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 :: BC031107.1, SRR1660805.230580.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2148093
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000348904.4/ ENSP00000335500.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-559               BC031107.1         24-582
            560-644             AC069279.6         59629-59713
            645-761             BC031107.1         668-784
            762-791             AC069279.6         63094-63123
            792-983             BC031107.1         815-1006
            984-984             AC069279.6         66038-66038
            985-1164            BC031107.1         1008-1187
            1165-2102           BC045737.1         981-1918
FEATURES             Location/Qualifiers
     source          1..2102
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7p12.3"
     gene            1..2102
                     /gene="C7orf57"
                     /note="chromosome 7 open reading frame 57"
                     /db_xref="GeneID:136288"
                     /db_xref="HGNC:HGNC:22247"
     exon            1..88
                     /gene="C7orf57"
                     /inference="alignment:Splign:2.1.0"
     exon            89..244
                     /gene="C7orf57"
                     /inference="alignment:Splign:2.1.0"
     CDS             190..1077
                     /gene="C7orf57"
                     /note="isoform 1 is encoded by transcript variant 1;
                     uncharacterized protein C7orf57"
                     /codon_start=1
                     /product="uncharacterized protein C7orf57 isoform 1"
                     /protein_id="NP_001093629.1"
                     /db_xref="CCDS:CCDS47583.1"
                     /db_xref="GeneID:136288"
                     /db_xref="HGNC:HGNC:22247"
                     /translation="MRNTSKELQGATHRYAPCDWYYHVPVKRSEKAVDAPPASQIPGL
                     SNLGDSHSENLPGTRRYWIKETDSEYVKLAKQGGRPDLLKHFAPGTRKGSPVAYSLPD
                     WYIHHSKPPTASQQEVRAVSMPDYMVHEEFNPDQANGSYASRRGPFDFDMKTVWQREA
                     EELEKEKKKLRLPAIDSKYLSKAGTPLGPKNPAGSRLSFPPVPGQKNSSPTNFSKLIS
                     NGYKDEWLQQQQRADSDKRTPKTSRASVLSQSPRDLEGPQDAARLQDAEASEGPEDTP
                     ESSQSPEESVSASTPAELK"
     exon            245..430
                     /gene="C7orf57"
                     /inference="alignment:Splign:2.1.0"
     exon            431..539
                     /gene="C7orf57"
                     /inference="alignment:Splign:2.1.0"
     exon            540..696
                     /gene="C7orf57"
                     /inference="alignment:Splign:2.1.0"
     exon            697..794
                     /gene="C7orf57"
                     /inference="alignment:Splign:2.1.0"
     exon            795..1018
                     /gene="C7orf57"
                     /inference="alignment:Splign:2.1.0"
     exon            1019..1030
                     /gene="C7orf57"
                     /inference="alignment:Splign:2.1.0"
     exon            1031..2102
                     /gene="C7orf57"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2080..2085
                     /regulatory_class="polyA_signal_sequence"
                     /gene="C7orf57"
                     /note="hexamer: AATAAA"
     polyA_site      2102
                     /gene="C7orf57"
                     /note="major polyA site"
ORIGIN      
        1 gggtttggtt ggctgcagcc agccagccgt gtaaaaactc caacgccggg cgccgcgggc
       61 agcacccacg gagacccgcg gggagctgct gcagctcctg gcaactggtc aagcaggcag
      121 cgtccagcgc acccgcgaac accaggtccg gcagcatctg tcttttcccg cagcgtgcag
      181 cgcctgacca tgaggaacac aagcaaggaa cttcagggcg ccacgcaccg ctacgctccc
      241 tgcgattggt attaccacgt cccagtgaag cgctctgaga aggccgtgga tgccccacca
      301 gcgtcccaga tcccaggtct cagcaatttg ggagactcac acagcgagaa cctgcctggg
      361 actcggagat actggataaa agaaacagat tcggaatatg tgaagctcgc gaaacaaggt
      421 ggcaggcccg atttgttgaa gcactttgcc cctggaacca ggaaaggctc tccagtggcc
      481 tactccctgc cagactggta tatccaccac agcaagccac cgacagccag ccagcaagaa
      541 gtgcgggctg tctccatgcc ggattacatg gttcatgaag aatttaaccc cgatcaagcc
      601 aatggtagct atgcatccag aagagggccc ttcgacttcg acatgaaaac agtttggcaa
      661 agagaggctg aggaacttga aaaggagaaa aaaaagctga ggctaccggc cattgactca
      721 aagtatctga gcaaagcagg caccccactt ggccctaaga atcctgcagg aagtagactc
      781 tccttccccc ccgtgcctgg tcaaaaaaac agttcaccta ccaatttttc caaactcatt
      841 agcaatggtt ataaggatga gtggttgcag cagcagcagc gagctgactc agacaagagg
      901 accccgaaga cctccagggc atcagtgtta tctcagtccc cacgagacct ggaaggtccc
      961 caggatgcag ccaggctcca ggatgcagag gcttctgaag gtcctgagga caccccagag
     1021 tcttctcaaa gcccagaaga atctgtatct gcatcaacac cagcagagct caaataaatc
     1081 ctgatgcaat atgtatttag gataattttt aaatggctaa atatgacatg actgtattat
     1141 agctatattt ctgaggcttt ttttgtattt tattaatata gactctcatt gaataattta
     1201 ccttgcagca gatttgacat tgctgcatag aaggggcagg tgttggtttt tgtttcttgc
     1261 atttctctgg gatgtgaaac acttggctaa caaacacaac taaggcctct ggtaccctct
     1321 gccctgctgg cctggtgatg tcccagtgtc tcagaactga tcacttgctc ctcctattgt
     1381 gtgaaccact cttagcaggc attgctactg gattcttaac tagagaaaac ttacagaaca
     1441 ggtgttaagc cttttccaat atttagtatt gtagtcttca tagaaatcat ttctagttac
     1501 agaaaaattt aactccagaa tatggtgata cagtttatgt taagaaacat attttaattt
     1561 attatgccat gaatttataa acatttaata taaaacatta taacatttgc tgttttaaaa
     1621 tttttgctat tttttcacaa actgatattc aaaatattaa acatttgtta ttttgtataa
     1681 acctttaagt aaaaatatgc tgttttaata tttaatttag tagaattaac aaaaactttt
     1741 taatagtcaa actgaattac cttgttttat aaatgttaaa ttgtttatat ttaagtaatt
     1801 agcttaaaaa tatagtttta tgttttgtac attaattgat taataaaata ataattttat
     1861 gtgagaatgt tttcaaaaag ccaaataaag tcacagatat tttagcttct ttcccagaat
     1921 aaacttatca tgcatttgct tacctaaaat ttaagtttca aattagttct ctatatgaga
     1981 tacttaatcg agcatatata tttatattca ttgatcaaac tgatatgcta caggagaatg
     2041 tatgcaatgt gtaaaaaatg caaatggctg tatgcattga ataaaaataa tatacaatta
     2101 ga
//
