LOCUS       NM_001395235            3730 bp    mRNA    linear   PRI 24-SEP-2024
DEFINITION  Homo sapiens coiled-coil domain containing 201 (CCDC201), mRNA.
ACCESSION   NM_001395235
VERSION     NM_001395235.1
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 3730)
  AUTHORS   Oddsson,A., Steinthorsdottir,V., Oskarsson,G.R., Styrkarsdottir,U.,
            Moore,K.H.S., Isberg,S., Halldorsson,G.H., Sveinbjornsson,G.,
            Westergaard,D., Nielsen,H.S., Fridriksdottir,R., Jensson,B.O.,
            Arnadottir,G.A., Jonsson,H., Sturluson,A., Snaebjarnarson,A.S.,
            Andreassen,O.A., Walters,G.B., Nyegaard,M., Erikstrup,C.,
            Steingrimsdottir,T., Lie,R.T., Melsted,P., Jonsdottir,I.,
            Halldorsson,B.V., Thorleifsson,G., Saemundsdottir,J.,
            Magnusson,O.T., Banasik,K., Sorensen,E., Masson,G., Pedersen,O.B.,
            Tryggvadottir,L., Haavik,J., Ostrowski,S.R., Stefansson,H.,
            Holm,H., Rafnar,T., Gudbjartsson,D.F., Sulem,P. and Stefansson,K.
  CONSRTM   DBDS Genomic Consortium
  TITLE     Homozygosity for a stop-gain variant in CCDC201 causes primary
            ovarian insufficiency
  JOURNAL   Nat Genet 56 (9), 1804-1810 (2024)
   PUBMED   39192094
  REMARK    GeneRIF: Homozygosity for a stop-gain variant in CCDC201 causes
            primary ovarian insufficiency.
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC096582.1.
            
            ##Evidence-Data-START##
            RNAseq introns :: partial sample support SAMEA2142853, SAMEA2153307
                              [ECO:0000350]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000636578.2/ ENSP00000489712.1
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-93                AC096582.1         122069-122161       c
            94-552              AC096582.1         115115-115573       c
            553-3730            AC096582.1         109073-112250       c
FEATURES             Location/Qualifiers
     source          1..3730
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7p12.3"
     gene            1..3730
                     /gene="CCDC201"
                     /note="coiled-coil domain containing 201"
                     /db_xref="GeneID:114515518"
                     /db_xref="HGNC:HGNC:54081"
     exon            1..93
                     /gene="CCDC201"
                     /inference="alignment:Splign:2.1.0"
     CDS             76..639
                     /gene="CCDC201"
                     /codon_start=1
                     /product="coiled-coil domain-containing protein 201"
                     /protein_id="NP_001382164.1"
                     /db_xref="CCDS:CCDS94096.1"
                     /db_xref="GeneID:114515518"
                     /db_xref="HGNC:HGNC:54081"
                     /translation="MEPGVQDLGLSSSEDESPSLAIRSPTLRKPLKHSTPEEAALGWS
                     PRPSGGASYLSGSPMPAHFSQDLASHPAGVSPPATVRKRRLSTLWASKESSLDLSAPG
                     EEPPTSASLTQRQRQRQQQQQQQESLRAKSWAQNPGLPGILNTTGRKRRDPKKRAAAM
                     ERVRQWEIYVLQNIEEATQHELTIEDD"
     exon            94..552
                     /gene="CCDC201"
                     /inference="alignment:Splign:2.1.0"
     exon            553..3730
                     /gene="CCDC201"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3707..3712
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CCDC201"
                     /note="hexamer: AATAAA"
     polyA_site      3729
                     /gene="CCDC201"
                     /note="major polyA site"
ORIGIN      
        1 atttcttggt gctgagggcc acagggtggg cgctgcaact gcccacttgg aagccagccc
       61 cagaggcaaa gcaggatgga gcctggggtg caggatctag gattgagctc ctctgaggat
      121 gagagcccct ctctagcaat caggagcccc accttgagaa agcccctgaa acacagcacc
      181 cctgaggagg cagccctggg ttggagccca aggccatcgg gaggtgcctc ctatctcagt
      241 gggtccccaa tgcctgcaca cttctctcag gaccttgcat cccacccagc aggggtcagc
      301 cctccagcca ctgttaggaa aaggaggctt tctactctct gggcctccaa ggagtccagc
      361 ttggatctct cagctcctgg ggaggagccg cccacatcag cctccttaac ccagcggcag
      421 cggcagcggc agcagcagca gcagcagcaa gagtccctcc gggcaaagag ctgggcacaa
      481 aaccctggat tgcctgggat cctgaacaca acagggagga agagacgaga cccgaagaag
      541 cgggcagctg cgatggagcg agtgcgacag tgggagatct acgtgcttca gaacattgag
      601 gaagccaccc agcatgagct caccatcgaa gatgactgag tgcttggtgc caggacagga
      661 aggcagggtg ctctagagct gcctgccttg ggctggcttc atcgtccaca tggtgccctc
      721 cttgggctgg cccccaatgc tgttgccctt ctccatgggg tgggaaaaac aggtttgaga
      781 agatcctgtt gcttagactg taaatgtgtt tctgggaggc attgacattg atgagggtca
      841 gcagaggtgg caggttaaag aagacaaggc tctgcatggt gtgtaacttg agccctgggt
      901 tttccactgc ccagctctgg ccttggagac agctctctgc ttgtctgagc ctcaggttcc
      961 ttacctgaca catgaggaaa ccccatccca gactgatgaa atgactgtgg agctgatgtc
     1021 taggcgaggg cggccgtagc cactcagcct tctcaggaaa gagttgggcc aatgccccat
     1081 gagcatattt gagacagcag gattgaaggc ctgaagcagg aactggaaag aaaatctctg
     1141 cactggatgg tgggtttcca accctatggt tatggtggtc tcattggagc accaatggtg
     1201 agggatgtat gttcccttcc cttatgtgga gaggaaccag gttttgagag gaggggagtg
     1261 cccatagtcc cacccctaga gggtacctac ctccttcctc aataggctgt aggagaaacc
     1321 agactgtggg atcccaggat gtttgcagat aaaggcaagg aagcttagag gaactcagag
     1381 gccagtccac ccacactgca tggctgagaa gtctccagga gtcaccacac ctggtatcag
     1441 gggcagggta ggtatcctag tgagcctgaa atgccactct aggaaagccc caaaaccgtg
     1501 attctcacct ggaaggcatt ctggaaatct gagagtgctg gctgtgtttg ttgagtgtgt
     1561 agggctagag gaacttaacc tttaacagtt acatgggcca accccctaca ctctccaacg
     1621 ctgtgctccc tgcttaacat cagggtccca cccaggtgat caataatacg aaggtaatac
     1681 atattgtaag gaagaagaaa gagatgtcca ggtagcttca gtttaaccca aagtcagcat
     1741 caattctccc aagtacaggc atctcagcaa gacctgtttg tgtggacatg ttatggttac
     1801 taaatacaga gctagagttt attcatataa atgtttgcat catccactct aaaaagcttg
     1861 ctttctactt cctaaaaaga atgcacacat ttccagccta gtcctacact gcctcccttc
     1921 aagtgtgcgg acaggtgggc tggcatctgg agtcagtgag aagggcaacc cctagatgaa
     1981 atctgagact ggcttaaaac ataggctcag actggcttaa aagataggac ataatagatt
     2041 ctaagggcat gtgaggtcta ggatgttcag ttttaagaga caggtgaaaa gtttagatct
     2101 gcagggtggg tggaaaatat tcctgatcaa taattgggtt cttcctggaa acacccacat
     2161 ttctttggag gtttccaaca gagaatgaga ttcttcacag gagggattag atatagcggc
     2221 tgcagttaga cagtaacttc atatttcatt ggatgttcta tatgagtgat aaaaatttat
     2281 ttactgtgta gtgtgtttaa acatttatag gttttatgaa ctagttcctc ctgtataagc
     2341 tattaaaaag tttacttttt tcttttttta taacttatat attattgggt tacaaaatta
     2401 tcagatttaa aaaatgttta ttttacaaat tagagtacaa agaagcagaa aaaaactgcc
     2461 tatattgcac accatagaga taaatacatc agagtaattc tttccagtct ttactattaa
     2521 aaataaactg ttttcatgag aactattccc gtggtctgtg tttgatgcaa agtgattcag
     2581 gcatgtagtt atgtttctat ctcgtttttc aaagaatgaa attcaaattc aaaatgagtc
     2641 cctggaggaa gaaaaataat gtgagtgact ctggggaagt gtgtccttga aagattggga
     2701 attatcagca ctcagaagaa tgttttcaca tataagatga tttcctagat attcatattg
     2761 catcttctac atattagcac aatgtactta ctatgttttt acatatttgg agtatatgca
     2821 gttatccata ggcactctag ttaaagtgtt caaaatgcaa tctcttggat ttcacaaatg
     2881 gtgcacatca catgttccat ccatgggaag atacctacag gaagcagcta aagacagaac
     2941 aagtcttgct gccccagcgc ctagacatgc ctatggaact gagtctctgt ttggctgcta
     3001 caaagctttc caaattcttg gggacaggag acgatgagaa acttagaaag ggagacaggg
     3061 cattctcaga ctgagggaca cggagaaatg agtgctgccc gcttatgtta gacatagggc
     3121 aagatttcta aatgatcatc tttgaggaaa ataataaaca gctaaacaat agccctggta
     3181 ataacaccaa caatgctcac ttagaggtaa gcataatgta acttgcagca attatttggg
     3241 ataaaataga tcttaactct cactgtgtat gcgaacccat gtattttgca gaaaatgcag
     3301 ttttgaaacc tgtcaggccc ctgagcccaa gctaagccat catatcccgt gacatgcaca
     3361 tacacatcag atagcctgaa gcaactgaag atccacaaaa gaagtgaaaa tagccttaac
     3421 tgatgacatt ctaccattgt gatttgtttc tgccccaccc taactgatca atgtattttg
     3481 taatctcccc tacccttaag aaggttcttt ttaatctccc ccacgcttaa gaaggttctt
     3541 tgtaattctc ctcacccttg agaatgtact ttgtgagatc cccccgctgc ccacaaaaca
     3601 ttgctcctaa ctctaccgcc tatcccaaaa cctgtaagaa ctaatgataa tcccaccacc
     3661 atttgctgat tctcttttca aactcagact gcctgcaccc aggtgaaata aacagccatg
     3721 ttgctcacac
//
