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2024-03-29 06:56:14, GGRNA : RefSeq release 60 (20130726)

LOCUS       NM_001143773            3566 bp    mRNA    linear   PRI 15-JUN-2013
DEFINITION  Homo sapiens family with sequence similarity 13, member C (FAM13C),
            transcript variant 3, mRNA.
ACCESSION   NM_001143773
VERSION     NM_001143773.1  GI:219555641
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 3566)
  AUTHORS   Wu,J.H., Lemaitre,R.N., Manichaikul,A., Guan,W., Tanaka,T., Foy,M.,
            Kabagambe,E.K., Djousse,L., Siscovick,D., Fretts,A.M., Johnson,C.,
            King,I.B., Psaty,B.M., McKnight,B., Rich,S.S., Chen,Y.D.,
            Nettleton,J.A., Tang,W., Bandinelli,S., Jacobs,D.R. Jr.,
            Browning,B.L., Laurie,C.C., Gu,X., Tsai,M.Y., Steffen,L.M.,
            Ferrucci,L., Fornage,M. and Mozaffarian,D.
  TITLE     Genome-wide association study identifies novel loci associated with
            concentrations of four plasma phospholipid fatty acids in the de
            novo lipogenesis pathway: results from the Cohorts for Heart and
            Aging Research in Genomic Epidemiology (CHARGE) consortium
  JOURNAL   Circ Cardiovasc Genet 6 (2), 171-183 (2013)
   PUBMED   23362303
REFERENCE   2  (bases 1 to 3566)
  AUTHORS   Karasik,D., Hsu,Y.H., Zhou,Y., Cupples,L.A., Kiel,D.P. and
            Demissie,S.
  TITLE     Genome-wide pleiotropy of osteoporosis-related phenotypes: the
            Framingham Study
  JOURNAL   J. Bone Miner. Res. 25 (7), 1555-1563 (2010)
   PUBMED   20200953
  REMARK    GeneRIF: Observational study and genome-wide association study of
            gene-disease association. (HuGE Navigator)
REFERENCE   3  (bases 1 to 3566)
  AUTHORS   Grupe,A., Li,Y., Rowland,C., Nowotny,P., Hinrichs,A.L., Smemo,S.,
            Kauwe,J.S., Maxwell,T.J., Cherny,S., Doil,L., Tacey,K., van
            Luchene,R., Myers,A., Wavrant-De Vrieze,F., Kaleem,M.,
            Hollingworth,P., Jehu,L., Foy,C., Archer,N., Hamilton,G.,
            Holmans,P., Morris,C.M., Catanese,J., Sninsky,J., White,T.J.,
            Powell,J., Hardy,J., O'Donovan,M., Lovestone,S., Jones,L.,
            Morris,J.C., Thal,L., Owen,M., Williams,J. and Goate,A.
  TITLE     A scan of chromosome 10 identifies a novel locus showing strong
            association with late-onset Alzheimer disease
  JOURNAL   Am. J. Hum. Genet. 78 (1), 78-88 (2006)
   PUBMED   16385451
  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
            AK299924.1, AK289796.1, BC064431.1, AI453702.1 and BM677909.1.
            
            Transcript Variant: This variant (3) differs in the 5' UTR, lacks a
            portion of the 5' coding region, and uses a downstream start codon,
            compared to variant 1. The resulting isoform (3) has a shorter
            N-terminus, compared to isoform 1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK299924.1 [ECO:0000332]
            RNAseq introns              :: mixed/partial sample support
                                           ERS025081, ERS025082 [ECO:0000350]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-424               AK299924.1         1-424
            425-2464            AK289796.1         180-2219
            2465-3492           BC064431.1         1998-3025
            3493-3545           AI453702.1         6-58                c
            3546-3566           BM677909.1         1-21                c
FEATURES             Location/Qualifiers
     source          1..3566
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q21.1"
     gene            1..3566
                     /gene="FAM13C"
                     /gene_synonym="FAM13C1"
                     /note="family with sequence similarity 13, member C"
                     /db_xref="GeneID:220965"
                     /db_xref="HGNC:19371"
     exon            1..328
                     /gene="FAM13C"
                     /gene_synonym="FAM13C1"
                     /inference="alignment:Splign:1.39.8"
     misc_feature    162..164
                     /gene="FAM13C"
                     /gene_synonym="FAM13C1"
                     /note="upstream in-frame stop codon"
     exon            329..367
                     /gene="FAM13C"
                     /gene_synonym="FAM13C1"
                     /inference="alignment:Splign:1.39.8"
     exon            368..424
                     /gene="FAM13C"
                     /gene_synonym="FAM13C1"
                     /inference="alignment:Splign:1.39.8"
     exon            425..629
                     /gene="FAM13C"
                     /gene_synonym="FAM13C1"
                     /inference="alignment:Splign:1.39.8"
     CDS             555..2063
                     /gene="FAM13C"
                     /gene_synonym="FAM13C1"
                     /note="isoform 3 is encoded by transcript variant 3;
                     family with sequence similarity 13, member C1; protein
                     FAM13C"
                     /codon_start=1
                     /product="protein FAM13C isoform 3"
                     /protein_id="NP_001137245.1"
                     /db_xref="GI:219555642"
                     /db_xref="CCDS:CCDS44406.1"
                     /db_xref="GeneID:220965"
                     /db_xref="HGNC:19371"
                     /translation="
MGNFKSRKPKSIFKAESGRSHGESQETEHVVSSQSECQVRAGTPAHESPQNNAFKCQETVRLQPRIDQRTAISPKDAFETRQDLNEEEAAQVHGVKDPAPASTQSVLADGTDSADPSPVHKDGQNEADSAPEDLHSVGTSRLLYHITDGDNPLLSPRCSIFSQSQRFNLDPESAPSPPSTQQFMMPRSSSRCSCGDGKEPQTITQLTKHIQSLKRKIRKFEEKFEQEKKYRPSHGDKTSNPEVLKWMNDLAKGRKQLKELKLKLSEEQGSAPKGPPRNLLCEQPTVPRENGKPEAAGPEPSSSGEETPDAALTCLKERREQLPPQEDSKVTKQDKNLIKPLYDRYRIIKQILSTPSLIPTIQEEEDSDEDRPQGSQQPSLADPASHLPVGDHLTYSNETEPVRALLPDEKKEVKPPALSMSNLHEATMPVLLDHLRETRADKKRLRKALREFEEQFFKQTGRSPQKEDRIPMADEYYEYKHIKAKLRLLEVLISKQDVAKTI
"
     exon            630..748
                     /gene="FAM13C"
                     /gene_synonym="FAM13C1"
                     /inference="alignment:Splign:1.39.8"
     exon            749..812
                     /gene="FAM13C"
                     /gene_synonym="FAM13C1"
                     /inference="alignment:Splign:1.39.8"
     exon            813..897
                     /gene="FAM13C"
                     /gene_synonym="FAM13C1"
                     /inference="alignment:Splign:1.39.8"
     exon            898..1108
                     /gene="FAM13C"
                     /gene_synonym="FAM13C1"
                     /inference="alignment:Splign:1.39.8"
     exon            1109..1247
                     /gene="FAM13C"
                     /gene_synonym="FAM13C1"
                     /inference="alignment:Splign:1.39.8"
     exon            1248..1329
                     /gene="FAM13C"
                     /gene_synonym="FAM13C1"
                     /inference="alignment:Splign:1.39.8"
     exon            1330..1541
                     /gene="FAM13C"
                     /gene_synonym="FAM13C1"
                     /inference="alignment:Splign:1.39.8"
     exon            1542..1637
                     /gene="FAM13C"
                     /gene_synonym="FAM13C1"
                     /inference="alignment:Splign:1.39.8"
     exon            1638..1837
                     /gene="FAM13C"
                     /gene_synonym="FAM13C1"
                     /inference="alignment:Splign:1.39.8"
     exon            1838..1939
                     /gene="FAM13C"
                     /gene_synonym="FAM13C1"
                     /inference="alignment:Splign:1.39.8"
     exon            1940..3549
                     /gene="FAM13C"
                     /gene_synonym="FAM13C1"
                     /inference="alignment:Splign:1.39.8"
     STS             2117..2308
                     /gene="FAM13C"
                     /gene_synonym="FAM13C1"
                     /standard_name="G65661"
                     /db_xref="UniSTS:225452"
     STS             2224..2323
                     /gene="FAM13C"
                     /gene_synonym="FAM13C1"
                     /standard_name="SHGC-30631"
                     /db_xref="UniSTS:51822"
     variation       2608
                     /gene="FAM13C"
                     /gene_synonym="FAM13C1"
                     /replace="a"
                     /replace="t"
                     /db_xref="dbSNP:11540126"
     STS             3371..3472
                     /gene="FAM13C"
                     /gene_synonym="FAM13C1"
                     /standard_name="D10S1860"
                     /db_xref="UniSTS:65450"
ORIGIN      
aaaattggtaggagacatgtggaagaaagcaagtctcccgggtatttcagcacttcggcagaaacactggggcattctcattgccagcctcggggggtggctggcacaaagagcccaagattaaacgcggcgcctgggctggcgaggtcggggtcgtgtggtaactctccaggtgctcctcgctggatcccggggtcccagccccgccgccgcgccccgcccagctctgtccccgcagcctcgcgggctgccgggctttgtggttcgcccgtgccgctgggcccctgctgggggtgtcgttacgagcatgtgcagacagcagcccaagccttcaggataattccttcagcagcaccactgtaacagagtgtgacgaagatccagtctctctacatgaagaccagactgattgctccagtctcagagatgaaaacaataaagagaactaccccgacgcaggggctctggtagaagagcacgcgccgccctcttgggagccgcagcagcagaatgtagaggcgaccgtgctggtggacagcgtattgcgacccagcatgggcaacttcaagtccaggaagcccaagtccatcttcaaagcggagagcgggaggagccacggagaaagtcaggagacagagcatgtggtatccagccagtcagagtgtcaggtgagagcaggaacaccagctcatgagagtccacaaaacaatgccttcaagtgccaagaaacagtgcgacttcaaccaagaatagaccagaggactgccatttcgccaaaggatgcttttgaaactcggcaggacttaaatgaggaagaagctgctcaggtgcatggagtcaaggacccggcgccagcatcaacccagagcgtgcttgccgatgggacagattctgcagacccctcaccagtccacaaagatgggcagaatgaggccgacagtgcaccagaagacctccactctgtggggaccagcaggctgctctatcacatcactgatggtgataacccactgctgtcgccacgatgctccatcttcagccaaagccagagattcaacttagaccccgagtcagccccatctccacccagcactcagcagtttatgatgccgcggagttcttcacgctgcagctgtggagatggcaaggagccacagaccatcacccagctcaccaagcacatccagagcctcaagcggaaaattcggaaatttgaagaaaaatttgaacaagaaaagaaataccggccttcacatggtgacaagacttctaatcctgaagtcctgaaatggatgaatgatttggctaaaggtcgtaaacagctcaaagaactaaagctaaagctgtcagaagaacaagggagtgctcccaaaggtccacctagaaacctgttgtgtgagcaacccacagtccccagagaaaatgggaaaccggaagctgcgggcccggagccaagctcctctggagaagagactccagatgctgccttgacatgcctgaaggagagaagagagcaacttcctccccaggaggattctaaggtaactaagcaagacaagaacctcataaagccgctttatgaccgatacagaattatcaagcaaatcttgtcaacaccttcccttattccaacaattcaggaggaagaggactctgatgaagaccgtccacagggaagccaacaaccttctttggcagatccagcatctcaccttcctgttggtgaccacctcacctactctaatgagactgagcctgttagggcccttttaccagatgaaaagaaagaagtaaaaccaccagctctctccatgtctaatttacatgaggctaccatgcctgtacttcttgaccatctccgagaaactagggctgacaagaagagactgcggaaagccttaagagaatttgaagaacagttttttaaacaaacaggaagaagtccacaaaaggaagataggataccaatggcagatgagtattatgaatataagcacataaaagccaaactgagactattagaggtcctcatcagcaagcaagatgtggccaaaactatttgaggttcaggaaatgttatgatcactttcacccatgatataaagtaaagtttattttcctctgccatccttgctaagtagttttgacacaatgaaaatggaagcactttagtggtagtattagctgtttttaagaaggaatagcaagtttaattatatacaaggagaagggatttaaacggggggaagaatacaacaggtagccatataattgggaaaaaattcagtgtcctccatgccaagcagaaaactcatagtcaatacaagtatttttaaaaatgtctaatattttatcaaatctaaataacatagctaggacacttgttagggaaagtttatttagtatccaaagactgtttatgttgatgtatggaaaagagcatgattttaaaaaatcaatcataggaggaaaagaaattcgcttttcaagtaggaaggaatacagctagcaagaaagcaatttatttgaaacttctaatggatttttgagtgataaaacatttactaccttgtcctttaagtctgctaggctctcagtaccctaaaataaactagattgtgttgctattttttttctttctctataaaaataacacattattttatccgttatttgaaattttacatttctggttaccaaagttcattctgatagcatgtactttgtgaattattatctttgtctataactgacagatgtttatattaaaataaaatattgtattaaaaatttaaaataggtattttggatagatatgtgtctgtagtatataatctaatgtgtccatagtattattgctaatcttttggtttactataagatgatataactattttttcattgggaatatacatttttcttaatgttccaacatctatactttgtaaagtcaaaacatttcccatgagctgtagttattcatccttctgtacaaaatgaaaagtttggaaattgtttgccctgataccttgaaaaagaagccagaatatttatttgcttcatcaacttcagtgtatatcattttgtgttattttatacgaaaacatgtttattattttcatttttgtaaaaggaagtaaaaggtcaacattttctctcatgtaccaaccttgtttgtatttctattttctgtaatgtttaagtatgatgttgaagaaattcacattctcttatagtttggatgggaagactattgactatttcagaaacagacttatttcagaggcttattgttttctctgtatttacctaatattttataacttttatgaatcagaataatgtccttcataaatttgtttaattgaagtcatctacttctaacaggacagatacacaactatttgaggtttacaaattacatctttgataagggaaatggtttcgtgacatgtacacagttgctattaaaatgtaactctatatattctatatgattgtaaatattttatacaacaatacaaataaaatatttttctattatatttaaaaaaaaaaaaaaaaaa
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