LOCUS       NM_198521               1324 bp    mRNA    linear   PRI 10-JUN-2024
DEFINITION  Homo sapiens chromosome 12 open reading frame 42 (C12orf42),
            transcript variant 1, mRNA.
ACCESSION   NM_198521 XM_350886
VERSION     NM_198521.5
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 1324)
  CONSRTM   Schizophrenia Working Group of the Psychiatric Genomics Consortium
  TITLE     Biological insights from 108 schizophrenia-associated genetic loci
  JOURNAL   Nature 511 (7510), 421-427 (2014)
   PUBMED   25056061
REFERENCE   2  (bases 1 to 1324)
  AUTHORS   Sampietro,M.L., Trompet,S., Verschuren,J.J., Talens,R.P.,
            Deelen,J., Heijmans,B.T., de Winter,R.J., Tio,R.A.,
            Doevendans,P.A., Ganesh,S.K., Nabel,E.G., Westra,H.J., Franke,L.,
            van den Akker,E.B., Westendorp,R.G., Zwinderman,A.H., Kastrati,A.,
            Koch,W., Slagboom,P.E., de Knijff,P. and Jukema,J.W.
  TITLE     A genome-wide association study identifies a region at chromosome
            12 as a potential susceptibility locus for restenosis after
            percutaneous coronary intervention
  JOURNAL   Hum Mol Genet 20 (23), 4748-4757 (2011)
   PUBMED   21878436
REFERENCE   3  (bases 1 to 1324)
  AUTHORS   Przybylski,G.K., Dittmann,K., Grabarczyk,P., Dolken,G., Gesk,S.,
            Harder,L., Landmann,E., Siebert,R. and Schmidt,C.A.
  TITLE     Molecular characterization of a novel chromosomal translocation
            t(12;14)(q23;q11.2) in T-lymphoblastic lymphoma between the T-cell
            receptor delta-deleting elements (TRDREC and TRAJ61) and the
            hypothetical gene C12orf42
  JOURNAL   Eur J Haematol 85 (5), 452-456 (2010)
   PUBMED   20659153
  REMARK    GeneRIF: deletional rearrangement of the TCR delta gene disrupted
            the hypothetical gene C12orf42 and brought the Achaete-scute
            complex homolog 1 gene into proximity of the TRA enhancer, which is
            overexpressed in thyroid and lung cancers
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            HY015666.1 and AK058052.1.
            
            On Aug 13, 2020 this sequence version replaced NM_198521.4.
            
            Transcript Variant: This variant (1) has an alternate splice site
            in the 5' UTR, compared to variant 2. Variants 1 and 2 encode the
            same isoform 1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK058052.1, BC117394.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2158188 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000548883.6/ ENSP00000447908.1
            RefSeq Select criteria :: based on manual assertion
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-121               HY015666.1         43-163
            122-1324            AK058052.1         122-1324
FEATURES             Location/Qualifiers
     source          1..1324
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q23.2-q23.3"
     gene            1..1324
                     /gene="C12orf42"
                     /note="chromosome 12 open reading frame 42"
                     /db_xref="GeneID:374470"
                     /db_xref="HGNC:HGNC:24729"
     exon            1..67
                     /gene="C12orf42"
                     /inference="alignment:Splign:2.1.0"
     exon            68..166
                     /gene="C12orf42"
                     /inference="alignment:Splign:2.1.0"
     CDS             89..1171
                     /gene="C12orf42"
                     /note="isoform 1 is encoded by transcript variant 1;
                     uncharacterized protein C12orf42"
                     /codon_start=1
                     /product="uncharacterized protein C12orf42 isoform 1"
                     /protein_id="NP_940923.2"
                     /db_xref="CCDS:CCDS44963.1"
                     /db_xref="GeneID:374470"
                     /db_xref="HGNC:HGNC:24729"
                     /translation="MSTVICMKQREEEFLLTIRPFANRMQKSPCYIPIVSSATLWDRS
                     TPSAKHIPCYERTSVPCSRFINHMKNFSESPKFRSLHFLNFPVFPERTQNSMACKRLL
                     HTCQYIVPRCSVSTVSFDEESYEEFRSSPAPSSETDEAPLIFTARGETEERARGAPKQ
                     AWNSSFLEQLVKKPNWAHSVNPVHLEAQGIHISRHTRPKGQPLSSPKKNSGSAARPST
                     AIGLCRRSQTPGALQSTGPSNTELEPEERMAVPAGAQAHPDDIQSRLLGASGNPVGKG
                     AVAMAPEMLPKHPHTPRDRRPQADTSLHGNLAGAPLPLLAGASTHFPSKRLIKVCSSA
                     PPRPTRRFHTVCSQALSRPVVNAHLH"
     exon            167..235
                     /gene="C12orf42"
                     /inference="alignment:Splign:2.1.0"
     exon            236..347
                     /gene="C12orf42"
                     /inference="alignment:Splign:2.1.0"
     exon            348..719
                     /gene="C12orf42"
                     /inference="alignment:Splign:2.1.0"
     exon            720..1324
                     /gene="C12orf42"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1305..1310
                     /regulatory_class="polyA_signal_sequence"
                     /gene="C12orf42"
                     /note="hexamer: AATAAA"
     polyA_site      1324
                     /gene="C12orf42"
                     /note="major polyA site"
ORIGIN      
        1 agagtgctcc agctcccgcg gaggaggctg cgggcggcgc cccgggatag ggaccctgca
       61 gctccaggga gttgaacttg tcaaattaat gtctacagtg atatgtatga aacaaaggga
      121 agaagaattc ttgctaacca tcagaccttt tgcaaacagg atgcagaaat ccccttgcta
      181 tattcccatt gtgagcagtg ccaccctgtg ggatagaagc acacccagtg caaagcacat
      241 cccttgttat gaaagaactt cagtaccctg ctccagattc attaatcaca tgaagaattt
      301 ctctgaatct cctaaatttc gtagtctaca ctttctgaat tttccagtat ttccagaaag
      361 gactcaaaat tcaatggcgt gtaaaagact acttcatact tgccagtaca tagtccccag
      421 gtgttctgta agcacagttt cttttgatga agaaagctat gaagaattcc gttcctctcc
      481 agcaccatcc agtgaaactg atgaggcccc attgattttt actgccagag gagaaactga
      541 ggagagagcc agaggagcac ccaagcaggc ttggaacagt tcatttttgg aacaactggt
      601 taaaaagcct aactgggcac actcagtaaa tcctgttcac ctggaggctc agggcataca
      661 catcagtaga cacacaagac ctaagggcca gcccttgagc agtcccaaga aaaattctgg
      721 ttctgccgcc agaccttcca ctgccatcgg cctctgcagg aggagccaga cgcccggcgc
      781 tctgcagagc accggcccga gtaacacaga gctcgagccg gaggagagga tggcagtccc
      841 agcaggcgct caggcacacc ccgacgacat ccaaagcaga ctcctgggcg cgtccggaaa
      901 tcccgtcgga aaaggcgcgg ttgccatggc gccggagatg ctccccaagc atcctcatac
      961 cccgcgggac aggaggcctc aggcggacac ctccctccat ggcaatctgg caggagcgcc
     1021 ccttcctctg ctggccggtg cttccaccca tttcccctcc aagaggttaa taaaggtttg
     1081 ctcctcagca cccccccgcc caacccggcg tttccatacg gtttgttcac aggccctttc
     1141 taggccggtg gtgaatgctc acttacattg accgctgcga gggaattgtt cggcgagtgc
     1201 tgcccatctt caaatcaatg cctgctcaga acaacagaaa gggcctcaga tgtactggtt
     1261 tccacagaac cattgttagg cttttgtgaa gcatttttga acctaataaa taatgtcaaa
     1321 agtc
//
