LOCUS       NM_001382740            4218 bp    mRNA    linear   PRI 09-JUL-2024
DEFINITION  Homo sapiens fibrosin like 1 (FBRSL1), transcript variant 4, mRNA.
ACCESSION   NM_001382740
VERSION     NM_001382740.1
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 4218)
  AUTHORS   Berger,H., Gerstner,S., Horstmann,M.F., Pauli,S. and Borchers,A.
  TITLE     Fbrsl1 is required for heart development in Xenopus laevis and de
            novo variants in FBRSL1 can cause human heart defects
  JOURNAL   Dis Model Mech 17 (6) (2024)
   PUBMED   38501224
  REMARK    GeneRIF: Fbrsl1 is required for heart development in Xenopus laevis
            and de novo variants in FBRSL1 can cause human heart defects.
REFERENCE   2  (bases 1 to 4218)
  AUTHORS   Zheng,R., Qiao,S., Chen,Y., Jin,C., Fang,Y., Lin,Z., Xue,N.,
            Yan,Y., Gu,L., Gao,T., Tian,J., Yan,Y., Yin,X., Pu,J. and Zhang,B.
  TITLE     Association analysis and polygenic risk score evaluation of 38
            GWAS-identified Loci in a Chinese population with Parkinson's
            disease
  JOURNAL   Neurosci Lett 762, 136150 (2021)
   PUBMED   34352340
  REMARK    GeneRIF: Association analysis and polygenic risk score evaluation
            of 38 GWAS-identified Loci in a Chinese population with Parkinson's
            disease.
REFERENCE   3  (bases 1 to 4218)
  AUTHORS   Barcellos,L.F., May,S.L., Ramsay,P.P., Quach,H.L., Lane,J.A.,
            Nititham,J., Noble,J.A., Taylor,K.E., Quach,D.L., Chung,S.A.,
            Kelly,J.A., Moser,K.L., Behrens,T.W., Seldin,M.F., Thomson,G.,
            Harley,J.B., Gaffney,P.M. and Criswell,L.A.
  TITLE     High-density SNP screening of the major histocompatibility complex
            in systemic lupus erythematosus demonstrates strong evidence for
            independent susceptibility regions
  JOURNAL   PLoS Genet 5 (10), e1000696 (2009)
   PUBMED   19851445
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC079031.39 and AC131212.6.
            
            ##Evidence-Data-START##
            RNAseq introns :: partial sample support SAMEA1968540, SAMEA1968832
                              [ECO:0000350]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            coronavirus related :: locus in the vicinity of disease-associated
                                   variant(s)
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-711               AC079031.39        61210-61920
            712-909             AC079031.39        79212-79409
            910-999             AC131212.6         9735-9824
            1000-1035           AC131212.6         11954-11989
            1036-1065           AC131212.6         32004-32033
            1066-1111           AC131212.6         51482-51527
            1112-1427           AC131212.6         53927-54242
            1428-1633           AC131212.6         54336-54541
            1634-1711           AC131212.6         65440-65517
            1712-1795           AC131212.6         65742-65825
            1796-2000           AC131212.6         66063-66267
            2001-4218           AC131212.6         66972-69189
FEATURES             Location/Qualifiers
     source          1..4218
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q24.33"
     gene            1..4218
                     /gene="FBRSL1"
                     /note="fibrosin like 1"
                     /db_xref="GeneID:57666"
                     /db_xref="HGNC:HGNC:29308"
                     /db_xref="MIM:620123"
     exon            1..711
                     /gene="FBRSL1"
                     /inference="alignment:Splign:2.1.0"
     CDS             421..2808
                     /gene="FBRSL1"
                     /note="isoform 4 is encoded by transcript variant 4;
                     fibrosin-1-like protein; HBV X-transactivated gene 9
                     protein; AUTS2-like protein; HBV XAg-transactivated
                     protein 9"
                     /codon_start=1
                     /product="fibrosin-1-like protein isoform 4"
                     /protein_id="NP_001369669.1"
                     /db_xref="GeneID:57666"
                     /db_xref="HGNC:HGNC:29308"
                     /db_xref="MIM:620123"
                     /translation="MEAKVRPSRRSRAQRDRGRRREAARDARAQSPSSGDEPEPSPGK
                     ENAGLRGAPPRGAAPAPRTARPPRRRRRESSSQEEEVIDGFAIASFSTLEALEKDMAL
                     KPHERKEKWERRLIKKPRESETCPPAEPSENRRPLEAGSPGQDLEPACDGARKVPLQP
                     SKQMKVTVSKGGDRDSDDDSVLEATSSRDPLSDSSAHAVSGRGYSCDSESGPDDKASV
                     GSEKLFAPGTDKGPALEKSEAKAGPVPKVSGLERSRELSAESFLPTASPAPHAAPCPG
                     PPPGSRANPLVKKEPPAPHRHTPQPPPPQPRGLLPTHVPASLGAFAGHSQAAANGLHG
                     LSRSSSAPLGLGKHVSLSPHGPGPHLSTSHLALRSQAQHQLHAAMFAAPPTLPPPPAL
                     PASSLVLPGHPAGAAHPASNPFGPSAHPGSFLPTGPLTDPFSRPSTFGGLGSLSSHAF
                     GGLGSHALAPGGSIFAPKEGSSVHGLPSPHEAWNRLHRAPPSFPAPPPWPKSVDAERV
                     SALTNHDREPDNGKEEQERDLLEKTRLLSRASPATPAGHPVSGLLLRAQSELGRSGAP
                     AEREAEPRVKESRSPAKEEAAKMPARASPPHSKAAPGDVKVKEERGEDEASEPPAGGL
                     HPAPLQLGLGRERLGAPGFAWEPFRGLELPRRAFPAAAPAPGSAALLEPPERPYRDRE
                     PHGYSPERLRGELERARAPHLPPAAPALDGALLPSLGALHFPRLSPAALHNGLLARTP
                     PAAAALGAPPPLVTAAGPPTPPGPPRSRTTPLGGLGPGEARDYSPSRNPPEVEAR"
     exon            712..909
                     /gene="FBRSL1"
                     /inference="alignment:Splign:2.1.0"
     exon            910..999
                     /gene="FBRSL1"
                     /inference="alignment:Splign:2.1.0"
     exon            1000..1035
                     /gene="FBRSL1"
                     /inference="alignment:Splign:2.1.0"
     exon            1036..1065
                     /gene="FBRSL1"
                     /inference="alignment:Splign:2.1.0"
     exon            1066..1111
                     /gene="FBRSL1"
                     /inference="alignment:Splign:2.1.0"
     exon            1112..1427
                     /gene="FBRSL1"
                     /inference="alignment:Splign:2.1.0"
     exon            1428..1633
                     /gene="FBRSL1"
                     /inference="alignment:Splign:2.1.0"
     exon            1634..1711
                     /gene="FBRSL1"
                     /inference="alignment:Splign:2.1.0"
     exon            1712..1795
                     /gene="FBRSL1"
                     /inference="alignment:Splign:2.1.0"
     exon            1796..2000
                     /gene="FBRSL1"
                     /inference="alignment:Splign:2.1.0"
     exon            2001..4218
                     /gene="FBRSL1"
                     /inference="alignment:Splign:2.1.0"
     polyA_site      3115
                     /gene="FBRSL1"
                     /note="major polyA site"
     regulatory      3313..3318
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FBRSL1"
                     /note="hexamer: AATAAT"
     polyA_site      3326
                     /gene="FBRSL1"
                     /note="major polyA site"
     regulatory      4195..4200
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FBRSL1"
                     /note="hexamer: AATACA"
     polyA_site      4218
                     /gene="FBRSL1"
ORIGIN      
        1 gtcagttgtt atctgttcgg ggcgccgccg ccgcctcacg agcccggtgc ccaggagccc
       61 ggccgcctcc cgcctgccgc ctgccgcgcc cgcccggccc cgcccgctcg gcccgatcgc
      121 cgcgccgcgc gcatggggcg cgcccccggg ggggcggccg agggccgctg agcgccgggc
      181 ccgcccccgc cgatgcgccc agccgcccgc gccgggggtc ccaggccgcg ccgggcccgg
      241 ggctgagccg ccccccgcgc ccggcatgcc cggcccggcc cgccgcccgc cgccgcccag
      301 ggcccgagcc cgcgcggcgc acactcagcc cggcggcgcc gcgtagccga gggagcccgc
      361 ctgctgcgag ccaggcgcgg ggcgtcaagg tcaccggccc gacggggcgc acgcgcggcc
      421 atggaggcca aggtccgccc gagccggcgc tcgcgcgcgc agcgggaccg tggccggcgc
      481 cgggaggccg cccgcgacgc ccgcgcccag agtccgtcgt cgggcgacga gcccgagccc
      541 agccccggca aggagaacgc gggcctccgc ggcgcgcccc cccgaggcgc cgcccccgcg
      601 ccccgcaccg cgcgtccccc gcgccgccgc cgccgcgagt ccagctcgca ggaggaggag
      661 gtcatcgacg gcttcgccat cgccagcttc agcaccctgg aggccctgga gaaggatatg
      721 gccctgaagc cacatgagcg gaaggagaag tgggagcgtc gtctcatcaa gaagccccgg
      781 gagtcggaaa cctgcccccc tgcggagccc agtgagaaca ggcggcccct ggaggcaggc
      841 agccccgggc aggacctcga acccgcctgc gatggggcga gaaaggtccc actgcagccc
      901 tccaagcaga tgaaggtcac cgtgtccaaa gggggcgacc gggacagtga cgacgacagc
      961 gtcctcgaag ccaccagctc ccgggacccg ctcagcgata gctctgcgca tgcggtctcg
     1021 gggagaggct actcttgtga cagcgagagc ggcccggacg acaaggcatc cgtgggctct
     1081 gagaagctct ttgcgccggg aaccgataaa ggcccagcgc ttgagaagtc ggaggccaag
     1141 gccgggccgg tgcccaaggt gtcaggcctg gagcgcagcc gcgagctcag cgccgagagc
     1201 ttcctgccca ctgccagccc cgcgccccat gccgcgccct gcccggggcc cccgcccggc
     1261 tcccgcgcca atcccttggt gaagaaggaa ccccccgccc cgcaccgcca caccccgcag
     1321 ccgccacccc cgcagccccg cggcctgctc ccgacacacg tgcctgcatc cctgggcgcc
     1381 ttcgcgggcc acagccaggc ggcagccaac ggcctgcacg gcctcagcag gagcagcagc
     1441 gcccccctgg gcctggggaa gcacgtgtcg ctgtcgccac acgggccggg cccccacctg
     1501 tctacctcac acctggcgct ccggtcccag gcgcagcacc agctccacgc ggccatgttt
     1561 gccgcacccc cgacactgcc cccgcccccg gcgctgccgg ccagcagcct ggtcctccca
     1621 ggacacccgg ccggtgccgc ccatcctgcc tccaacccat ttggaccctc agcccatcct
     1681 ggcagcttcc tgcccactgg ccccctgaca gaccctttca gcagaccgag cacctttggg
     1741 ggcctgggca gcctgagcag ccacgccttt gggggcctgg gcagccatgc actggctccc
     1801 ggtggcagca tctttgcccc caaggagggc tcctccgtgc acggcctgcc cagcccccat
     1861 gaggcctgga accgactgca ccgggcaccg ccctccttcc cggctccgcc cccgtggccc
     1921 aagtccgtgg acgcggagcg ggtgtcagcc ctgaccaacc atgaccgaga gccggacaat
     1981 ggcaaggagg agcaggaacg ggacctcctg gagaagacgc gcctgctgag ccgggcctcg
     2041 cccgccaccc ccgctggcca ccccgtcagc ggcctcctgc tccgggccca gagcgagctg
     2101 ggccggtccg gggcccccgc ggagcgcgag gccgaacctc gggtcaagga gagccgctcc
     2161 ccggccaagg aggaggccgc caagatgccc gcgcgcgcat ccccgcccca cagcaaggcg
     2221 gcccctggag acgtgaaggt caaggaggag cgcggggagg acgaggcctc cgagcccccg
     2281 gcgggcggcc tgcaccccgc gcccctgcag ctcggcctgg gccgcgagcg cctgggcgcg
     2341 ccgggcttcg cgtgggagcc tttccgcggc ctggagctgc cacgtcgcgc cttccccgct
     2401 gccgcccccg ccccgggctc cgccgccctc ttggagcccc cggagcgccc ctaccgcgac
     2461 cgcgagcccc acggctacag ccccgagcgc ctgcgcgggg agctggagcg cgcgcgggcc
     2521 ccgcacctgc cgcccgccgc ccccgccttg gacggcgcgc tgctgccctc gctgggagcc
     2581 ctgcacttcc cgcgcctctc gcccgccgcg ctgcacaatg ggctcctggc gcggaccccg
     2641 cccgccgccg ccgccctcgg cgcaccgccc cccctggtga cggcggccgg gccccccacg
     2701 ccccccgggc cgccgcggag ccggactact ccgctggggg gcctcgggcc gggcgaggcg
     2761 cgcgactact ccccgtcccg aaatcccccg gaggtggagg cgcggtagcc ccggggccgc
     2821 agacgcctct ccgagcggag cgcaccgctg tccgtctctc catcagttcc tagaactcaa
     2881 gcacagctcc cgccgatcct ggggcggcgc cgcctctcca cccgcagcct gcggaggcgg
     2941 ggacttgggt gtcggctttt ctgagggtga tcttttgttt tccgagtttg ggattcggct
     3001 gttgggaaaa aaaaatcgcg tttgtacctt ttccccccac agatgagaag tgtttgtaat
     3061 ggatttgtat ttttcttaat tttatgctct ttagacgttt aaaagaacca aaaaagaaac
     3121 ttttgcttct tcgttttcgg ttgggatttg cagtttaatg gcctcagatc cttctccaga
     3181 tccccagggt ttctttgtct tatttatgga gaaaaaccgg tcactttgtc cagcgcactg
     3241 tgaggccccc actcaggcca gccctggccc ccccttggta cttggaaccg aagttacaga
     3301 ttatattaaa ataataatgt acaaaacttt gtttttttgc cttattatgc agaagtgtaa
     3361 tttctttttt ggtttgtttt tttaaaagca aacgaaacgt gtaaatagtc tgttgatata
     3421 aatatatgac gttactaaat tcttaatcta gatagacttt ataaaaaccg tttccagaaa
     3481 cccctctggt tgtttgtcta acatggtcac aaaaacccag gcgctgctgg ctgtaaacat
     3541 tatcagaagt ttaatggcag caactttcct tcaactatgc aagcgcttcc cggcggctct
     3601 gctggttggg ggaggaaggt tccgccagcg acctcccagc ccctgggtcc gtggaggggt
     3661 tgggtccccc agcagagccc ctgggccagc agaacagcac tcctgggcgg ctcctgtggg
     3721 cttcaggact ggccggctcc agccgcaagg gcgatgctgt ggacgtttgt gtggatggtg
     3781 cagtgttctt ggaatctgta gaccagatcg gtggaggtat agaagtgcaa gagtctaaag
     3841 gctgatttta cacacacaca cacacacaca cacacacaca caaaatcact gctgtgtgtt
     3901 ttcttccgcc tgaggcatca gcgtcacctc ggtgtggtcg tcgcctccca ggcccttggc
     3961 ctggcctcct ctcagtttgg gttttgccct cacccacatg agccccccca tgccctgccc
     4021 cccttgcggc cttttgtgtt ccccgatgtc tgggctgtgt ccctgccggg attcccagcc
     4081 ttcggggtca gccgtcgagc cacttgcttt gctcagttct gtgtttcagc cacatttcca
     4141 cggtggaccc tgtttgtttt aaatattctg ttcccatgtc aatcagtgac gataaataca
     4201 gccttgattt ggatgaaa
//
