LOCUS       NM_182633               4358 bp    mRNA    linear   PRI 04-APR-2024
DEFINITION  Homo sapiens zinc finger protein 713 (ZNF713), transcript variant
            1, mRNA.
ACCESSION   NM_182633 XM_351707
VERSION     NM_182633.3
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 4358)
  AUTHORS   Yin,Y., Morgunova,E., Jolma,A., Kaasinen,E., Sahu,B.,
            Khund-Sayeed,S., Das,P.K., Kivioja,T., Dave,K., Zhong,F.,
            Nitta,K.R., Taipale,M., Popov,A., Ginno,P.A., Domcke,S., Yan,J.,
            Schubeler,D., Vinson,C. and Taipale,J.
  TITLE     Impact of cytosine methylation on DNA binding specificities of
            human transcription factors
  JOURNAL   Science 356 (6337) (2017)
   PUBMED   28473536
REFERENCE   2  (bases 1 to 4358)
  AUTHORS   Zhao,X.N. and Usdin,K.
  TITLE     The Repeat Expansion Diseases: The dark side of DNA repair
  JOURNAL   DNA Repair (Amst) 32, 96-105 (2015)
   PUBMED   26002199
  REMARK    Review article
REFERENCE   3  (bases 1 to 4358)
  AUTHORS   Metsu,S., Rainger,J.K., Debacker,K., Bernhard,B., Rooms,L.,
            Grafodatskaya,D., Weksberg,R., Fombonne,E., Taylor,M.S.,
            Scherer,S.W., Kooy,R.F. and FitzPatrick,D.R.
  TITLE     A CGG-repeat expansion mutation in ZNF713 causes FRA7A: association
            with autistic spectrum disorder in two families
  JOURNAL   Hum Mutat 35 (11), 1295-1300 (2014)
   PUBMED   25196122
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC094796.1, DA690512.1,
            AL539604.3, AI274573.1, AC092647.2, AC092579.3, DA743742.1 and
            BM991493.1.
            
            On Nov 22, 2018 this sequence version replaced NM_182633.2.
            
            Summary: The protein encoded by this gene contains C2H2 zinc finger
            domains. In some individuals, a CGG-repeat expansion from 5-22
            repeats to 68-450 repeats has been identified in the first intron
            of this gene. This mutation is thought to effect the expression of
            this gene and it has been proposed that it may be associated with
            Autistic Spectrum Disorder. [provided by RefSeq, Jul 2016].
            
            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 :: BC094796.1, SRR1660807.165422.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA1968968
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000429591.4/ ENSP00000416662.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-172               BC094796.1         1-172
            173-173             DA690512.1         174-174
            174-461             BC094796.1         174-461
            462-511             BC094796.1         463-512
            512-512             AL539604.3         486-486
            513-1961            BC094796.1         514-1962
            1962-2109           AI274573.1         2-149               c
            2110-2754           AC092647.2         161247-161891
            2755-3586           AC092579.3         1-832
            3587-3807           BC094796.1         2288-2508
            3808-4014           DA743742.1         1-207
            4015-4015           AC092579.3         1261-1261
            4016-4327           DA743742.1         209-520
            4328-4358           BM991493.1         17-47               c
FEATURES             Location/Qualifiers
     source          1..4358
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7p11.2"
     gene            1..4358
                     /gene="ZNF713"
                     /note="zinc finger protein 713"
                     /db_xref="GeneID:349075"
                     /db_xref="HGNC:HGNC:22043"
                     /db_xref="MIM:616181"
     exon            1..225
                     /gene="ZNF713"
                     /inference="alignment:Splign:2.1.0"
     exon            226..352
                     /gene="ZNF713"
                     /inference="alignment:Splign:2.1.0"
     exon            353..805
                     /gene="ZNF713"
                     /inference="alignment:Splign:2.1.0"
     exon            806..894
                     /gene="ZNF713"
                     /inference="alignment:Splign:2.1.0"
     CDS             808..2139
                     /gene="ZNF713"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /codon_start=1
                     /product="zinc finger protein 713 isoform 1"
                     /protein_id="NP_872439.2"
                     /db_xref="CCDS:CCDS34639.2"
                     /db_xref="GeneID:349075"
                     /db_xref="HGNC:HGNC:22043"
                     /db_xref="MIM:616181"
                     /translation="MPSQNAVFSQEGNMEEEEMNDGSQMVRSQESLTFQDVAVDFTRE
                     EWDQLYPAQKNLYRDVMLENYRNLVALGYQLCKPEVIAQLELEEEWVIERDSLLDTHP
                     DGENRPEIKKSTTSQNISDENQTHEMIMERLAGDSFWYSILGGLWDFDYHPEFNQENH
                     KRYLGQVTLTHKKITQERSLECNKFAENCNLNSNLMQQRIPSIKIPLNSDTQGNSIKH
                     NSDLIYYQGNYVRETPYEYSECGKIFNQHILLTDHIHTAEKPSECGKAFSHTSSLSQP
                     QMLLTGEKPYKCDECGKRFSQRIHLIQHQRIHTGEKPFICNGCGKAFRQHSSFTQHLR
                     IHTGEKPYKCNQCGKAFSRITSLTEHHRLHTGEKPYECGFCGKAFSQRTHLNQHERTH
                     TGEKPYKCNECGKAFSQSAHLNQHRKIHTREKLCEYKCEQTVRHSPSFSST"
     exon            895..1021
                     /gene="ZNF713"
                     /inference="alignment:Splign:2.1.0"
     exon            1022..1114
                     /gene="ZNF713"
                     /inference="alignment:Splign:2.1.0"
     exon            1115..4358
                     /gene="ZNF713"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3879..3884
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ZNF713"
                     /note="hexamer: ATTAAA"
     polyA_site      3910
                     /gene="ZNF713"
                     /note="major polyA site"
     regulatory      4333..4338
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ZNF713"
                     /note="hexamer: TATAAA"
     polyA_site      4358
                     /gene="ZNF713"
                     /note="major polyA site"
ORIGIN      
        1 agcgtcttgc gccgccattg cggggaggct gtcctcagag caggtctggc gcgccggtgg
       61 ctggaccggc cccaggagcc cagtcaccgg gcgtcattgg ctcaggctgc ggggccctcg
      121 gcaccttctc cctcccgggt ccaccgcggc ggcggcggcg gcggcggcgg cggcggcggc
      181 ggcgtcaggg ggcggagcct gccgaagcgc cctttgtctg cggaggtcaa catacctggc
      241 ctaaggaggc aggattgagt gactctcact caccactggt gttgctcttt gaaagtggcg
      301 cttggcacca gcatgaactc cccatcctca gcaatcccat caggtgtttt gggtcttcaa
      361 cctaaaattc tatcttacaa gatccttgcc aggatgcaga tttgaatact atagtgaagt
      421 ctgtacatga agaaatgatg cttttaggga ggaaaaaaaa aggtaataac aaccttcaag
      481 agccccttca tctcaactcg gcataaacaa ggcaagattc tgagagtggc cgcccctgga
      541 agcagaaatt attcttgtgg ctatccattg gctcctgagg ctctaatcag agatggggca
      601 cctttagtac caggggagtg actgttgccc ataaggtact ggacatcaac tttcaagagc
      661 agccccagct ccttaagctg ctggtcctgg tgcatctgct gactttcatg tagaagatag
      721 cagagctttg gcgacattac aacataagaa ctgcagagag gtgtaatccc agtggaagac
      781 tgaatcgaga gactcaaaaa ggaagttatg ccttctcaga atgctgtttt ttctcaggag
      841 gggaacatgg aggaggaaga aatgaatgat ggctcacaga tggtgagatc tcaggaatca
      901 ctgacgtttc aggatgtggc cgtggacttc accagagagg agtgggacca gctgtaccct
      961 gcccaaaaga acctctatcg agacgtgatg ctggagaact acaggaatct agttgcactg
     1021 gggtatcagc tttgtaagcc agaggtaatc gcgcagttgg agctagagga agaatgggtg
     1081 atagaaagag acagcctgct ggatactcat ccagatggag aaaacagacc cgaaatcaaa
     1141 aagtcaacca caagccagaa tatttctgat gaaaatcaaa cccatgagat gataatggag
     1201 agactcgcag gagacagctt ctggtactcc atcctaggag gactctggga ttttgattac
     1261 catccagagt ttaaccaaga aaaccacaag agatatttag gacaagtaac tttgacccac
     1321 aaaaagatca cacaggagag aagccttgag tgtaataaat ttgcagaaaa ctgtaatctg
     1381 aactcaaacc ttatgcagca gagaattcct tccattaaaa tacccctgaa ttctgacaca
     1441 cagggaaaca gcatcaaaca taattcagac ttgatttact atcagggaaa ttatgtaaga
     1501 gagactccct atgaatatag tgagtgtgga aaaatcttca atcaacatat tcttcttact
     1561 gatcatattc atactgcaga gaaacccagt gagtgtggga aggccttcag ccacacctca
     1621 tctcttagcc agcctcagat gttgcttaca ggagagaagc cctataagtg tgatgaatgt
     1681 ggaaaaagat tcagccagag gatacatctc attcaacatc agagaattca cacaggagaa
     1741 aagcctttta tatgcaatgg atgtgggaaa gccttccgtc agcattcatc ctttactcaa
     1801 catctgagga ttcatactgg agaaaagccc tataaatgta atcaatgtgg taaagctttt
     1861 agccgcatca catcccttac tgaacatcat agacttcata ccggagagaa accttacgaa
     1921 tgtggtttct gtggcaaagc cttcagtcag aggacacatc tgaatcaaca tgaaagaact
     1981 catacaggag agaaacccta taaatgtaat gaatgcggga aagcctttag ccagagtgca
     2041 caccttaatc aacacaggaa aatccatact cgggagaaat tatgtgaata taaatgtgag
     2101 caaactgttc gccacagtcc ttcatttagc agcacataac ttatggtggg ggaaatcaga
     2161 taaatatata aatgtaggag attttttggt cagacctttt tatcccattc aatatcaaat
     2221 tattcatagt ggagagaaag cttatacata aatttttgtt ttgttttgtt tttgagactg
     2281 agtctcactc tgtcacccag gctgaagtgc agtggtacaa tcttggctca ctgcaacctc
     2341 tgccacctgg gttcaagcga ttctcctgcc tcagcctcct gagtagctgg gaccacaggt
     2401 atgcaccacc acgcccagct aattttttgt atttttagta gagacggggt ttcaccatgt
     2461 tggccaggct ggtctcgaac tcctaacctc aggtgatccg cccacctcgg cctcccaaag
     2521 tgctgggatt acaggcgtgg gccactgcgc ctggccataa actttcaatg cgtagaaacc
     2581 aaattaattt agaccttaaa ctagcagcat attacattcc caggaggggt tataaaaaga
     2641 aaaaataatt tattttacaa atgagattat atttggagtc atgttccaaa tctgatataa
     2701 aactttttaa aaaatcagaa gtccttatcc aggcatggtg gtgcacacct gcaatcccag
     2761 ctactctgga gactgaggca tgagaatgac ttgaacatgg gaggtggagg ttgctgtgag
     2821 ctgagatcat gccactgtac tccagcctgg gcaacagagc aagactctgt ctcaaaaaaa
     2881 aaaaagaaag aaagcctata ggcaacaact tgtaattact cacctgtaag ttttatggta
     2941 taaaactttt tttttttttt ttttttgagg cagagtctcg ctctgccacc caggctggag
     3001 tgcaatggcg cgatctcggc tcacagcaac ctccacctcc tgggttccag cgattcttct
     3061 gcttcagcct cccgagtagc tgggactaca ggtgcgtacc accacgcctg gctaactttt
     3121 tttttgtatt ttttagtaga gacacggttt caccatattg actaggctgg tctcgaactc
     3181 ctgaccttgt gatctgcccg cctcggcctc ccaaagtgct gggattatag gcgtgagcaa
     3241 ctgcacctgg caggttatgg tataaaactt ttaaatcaga aattttgatt aattaaagac
     3301 aatgctggct gggggcggtg gttcacgcct ataatcccag cactttggga ggccgaggtg
     3361 gggtgatcat ctgaggccag gagtttgaga ccagcctggc caacatggta aaaccccatc
     3421 tctactaaaa atacaaaaat tagctgggta tggtggtgca cgcctgtagt ctcagcagct
     3481 tgggaggctg aggcagaaga attgcttgaa cccggtaggt ggaggttgca gtgagccaag
     3541 atcacgccac tgtactccag cctgggcaac agagtgagac tgtctcaaaa aaaaaaaaaa
     3601 gtaaaattta aaaataaagg cgatgctgta gtgcagccag tcacattaac ttgaaataaa
     3661 cataaaagag gaatatttca cgaacgtcag ttatttgtat gctttcttta cagtttttac
     3721 catatctagt atttacttaa tattctttat aaagggatgc aagattttta gccttctcct
     3781 aggaaatact atttagcata taaaataagt tatatgctag ttttatatgc taattaaatt
     3841 tattctactc ttcatcaaaa tagatacata accttgaaat taaaaatatt cgttgatgtc
     3901 cccccaaaaa tcttgtgtgc cgttgtttga gaaacagtgt gatagtttgt ggcaatatcc
     3961 tgtgatgatt ctttttgcaa tcttgacatt attttcatca aatgaatcct aggatcactt
     4021 tgagaagagc cttgaagaag acttgagggt cctattgatg aactttgaaa tattgattca
     4081 gagaagtctg cttttctatt ttgttttagc tttaaatttc cctgtggcaa gtctagattt
     4141 tttttcagtt aaaattattt ctgctgtatt tgtagaacag aagttttggg attttgtaaa
     4201 ataatgacca gagactaaga attcccatgc caccccgtat cactgtggaa gatggagaag
     4261 tgaggaactg tacctgcggg tgagccctgg tgccatgttg agggtgggaa tcaggagagc
     4321 tgcagtggct tatataaaca cctgacgaag tagtctaa
//
