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2019-03-25 09:07:30, GGRNA : RefSeq release 60 (20130726)

LOCUS       NM_001001971            3101 bp    mRNA    linear   PRI 15-JUN-2013
DEFINITION  Homo sapiens family with sequence similarity 13, member C (FAM13C),
            transcript variant 2, mRNA.
ACCESSION   NM_001001971
VERSION     NM_001001971.2  GI:219555640
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 3101)
  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 3101)
  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 3101)
  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
            BC064431.1, AK289796.1, AI453702.1 and BM677909.1.
            On Jan 6, 2009 this sequence version replaced gi:50897853.
            
            Transcript Variant: This variant (2) lacks two alternate in-frame
            exons in the central coding region, compared to variant 1. The
            resulting isoform (2) lacks an internal segment, compared to
            isoform 1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC064431.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           ERS025084 [ECO:0000348]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1684              BC064431.1         1-1684
            1685-1999           AK289796.1         1905-2219
            2000-3027           BC064431.1         1998-3025
            3028-3080           AI453702.1         6-58                c
            3081-3101           BM677909.1         1-21                c
FEATURES             Location/Qualifiers
     source          1..3101
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q21.1"
     gene            1..3101
                     /gene="FAM13C"
                     /gene_synonym="FAM13C1"
                     /note="family with sequence similarity 13, member C"
                     /db_xref="GeneID:220965"
                     /db_xref="HGNC:19371"
     exon            1..196
                     /gene="FAM13C"
                     /gene_synonym="FAM13C1"
                     /inference="alignment:Splign:1.39.8"
     misc_feature    21..23
                     /gene="FAM13C"
                     /gene_synonym="FAM13C1"
                     /note="upstream in-frame stop codon"
     CDS             135..1598
                     /gene="FAM13C"
                     /gene_synonym="FAM13C1"
                     /note="isoform 2 is encoded by transcript variant 2;
                     family with sequence similarity 13, member C1; protein
                     FAM13C"
                     /codon_start=1
                     /product="protein FAM13C isoform 2"
                     /protein_id="NP_001001971.1"
                     /db_xref="GI:50897854"
                     /db_xref="CCDS:CCDS31207.1"
                     /db_xref="GeneID:220965"
                     /db_xref="HGNC:19371"
                     /translation="
MFSCFCFSLQDNSFSSTTVTECDEDPVSLHEDQTDCSSLRDENNKENYPDAGALVEEHAPPSWEPQQQNVEATVLVDSVLRPSMGNFKSRKPKSIFKAESGRSHGESQETEHVVSSQSECQVRAGTPAHESPQNNAFKCQETVRLQPRIDQRTAISPKDAFETRQDLNEEEAAQVHGVKDPAPASTQSVLADGTDSADPSPVHKDGQNEADSAPEDLHSVGTSRLLYHITDGDNPLLSPRCSIFSQSQRFNLDPESAPSPPSTQQFMMPRSSSRCSCGDGKEPQTITQLTKHIQSLKRKIRKFEEKFEQEKKYRVTKQDKNLIKPLYDRYRIIKQILSTPSLIPTIQEEEDSDEDRPQGSQQPSLADPASHLPVGDHLTYSNETEPVRALLPDEKKEVKPPALSMSNLHEATMPVLLDHLRETRADKKRLRKALREFEEQFFKQTGRSPQKEDRIPMADEYYEYKHIKAKLRLLEVLISKQDVAKTI
"
     exon            197..253
                     /gene="FAM13C"
                     /gene_synonym="FAM13C1"
                     /inference="alignment:Splign:1.39.8"
     exon            254..458
                     /gene="FAM13C"
                     /gene_synonym="FAM13C1"
                     /inference="alignment:Splign:1.39.8"
     exon            459..577
                     /gene="FAM13C"
                     /gene_synonym="FAM13C1"
                     /inference="alignment:Splign:1.39.8"
     exon            578..641
                     /gene="FAM13C"
                     /gene_synonym="FAM13C1"
                     /inference="alignment:Splign:1.39.8"
     exon            642..726
                     /gene="FAM13C"
                     /gene_synonym="FAM13C1"
                     /inference="alignment:Splign:1.39.8"
     exon            727..937
                     /gene="FAM13C"
                     /gene_synonym="FAM13C1"
                     /inference="alignment:Splign:1.39.8"
     exon            938..1076
                     /gene="FAM13C"
                     /gene_synonym="FAM13C1"
                     /inference="alignment:Splign:1.39.8"
     exon            1077..1172
                     /gene="FAM13C"
                     /gene_synonym="FAM13C1"
                     /inference="alignment:Splign:1.39.8"
     exon            1173..1372
                     /gene="FAM13C"
                     /gene_synonym="FAM13C1"
                     /inference="alignment:Splign:1.39.8"
     exon            1373..1474
                     /gene="FAM13C"
                     /gene_synonym="FAM13C1"
                     /inference="alignment:Splign:1.39.8"
     exon            1475..3084
                     /gene="FAM13C"
                     /gene_synonym="FAM13C1"
                     /inference="alignment:Splign:1.39.8"
     STS             1652..1843
                     /gene="FAM13C"
                     /gene_synonym="FAM13C1"
                     /standard_name="G65661"
                     /db_xref="UniSTS:225452"
     STS             1759..1858
                     /gene="FAM13C"
                     /gene_synonym="FAM13C1"
                     /standard_name="SHGC-30631"
                     /db_xref="UniSTS:51822"
     variation       2143
                     /gene="FAM13C"
                     /gene_synonym="FAM13C1"
                     /replace="a"
                     /replace="t"
                     /db_xref="dbSNP:11540126"
     STS             2906..3007
                     /gene="FAM13C"
                     /gene_synonym="FAM13C1"
                     /standard_name="D10S1860"
                     /db_xref="UniSTS:65450"
ORIGIN      
gtgcagacagcagcccaaggtagagcgagcgtgccgggcgagcccggagacttgccttgcaatgccatgtttgtgtatgtgctctaactcccggagagcaatcagggagacggctccccggccagacttggctgatgttttcttgtttctgtttcagccttcaggataattccttcagcagcaccactgtaacagagtgtgacgaagatccagtctctctacatgaagaccagactgattgctccagtctcagagatgaaaacaataaagagaactaccccgacgcaggggctctggtagaagagcacgcgccgccctcttgggagccgcagcagcagaatgtagaggcgaccgtgctggtggacagcgtattgcgacccagcatgggcaacttcaagtccaggaagcccaagtccatcttcaaagcggagagcgggaggagccacggagaaagtcaggagacagagcatgtggtatccagccagtcagagtgtcaggtgagagcaggaacaccagctcatgagagtccacaaaacaatgccttcaagtgccaagaaacagtgcgacttcaaccaagaatagaccagaggactgccatttcgccaaaggatgcttttgaaactcggcaggacttaaatgaggaagaagctgctcaggtgcatggagtcaaggacccggcgccagcatcaacccagagcgtgcttgccgatgggacagattctgcagacccctcaccagtccacaaagatgggcagaatgaggccgacagtgcaccagaagacctccactctgtggggaccagcaggctgctctatcacatcactgatggtgataacccactgctgtcgccacgatgctccatcttcagccaaagccagagattcaacttagaccccgagtcagccccatctccacccagcactcagcagtttatgatgccgcggagttcttcacgctgcagctgtggagatggcaaggagccacagaccatcacccagctcaccaagcacatccagagcctcaagcggaaaattcggaaatttgaagaaaaatttgaacaagaaaagaaataccgggtaactaagcaagacaagaacctcataaagccgctttatgaccgatacagaattatcaagcaaatcttgtcaacaccttcccttattccaacaattcaggaggaagaggactctgatgaagaccgtccacagggaagccaacaaccttctttggcagatccagcatctcaccttcctgttggtgaccacctcacctactctaatgagactgagcctgttagggcccttttaccagatgaaaagaaagaagtaaaaccaccagctctctccatgtctaatttacatgaggctaccatgcctgtacttcttgaccatctccgagaaactagggctgacaagaagagactgcggaaagccttaagagaatttgaagaacagttttttaaacaaacaggaagaagtccacaaaaggaagataggataccaatggcagatgagtattatgaatataagcacataaaagccaaactgagactattagaggtcctcatcagcaagcaagatgtggccaaaactatttgaggttcaggaaatgttatgatcactttcacccatgatataaagtaaagtttattttcctctgccatccttgctaagtagttttgacacaatgaaaatggaagcactttagtggtagtattagctgtttttaagaaggaatagcaagtttaattatatacaaggagaagggatttaaacggggggaagaatacaacaggtagccatataattgggaaaaaattcagtgtcctccatgccaagcagaaaactcatagtcaatacaagtatttttaaaaatgtctaatattttatcaaatctaaataacatagctaggacacttgttagggaaagtttatttagtatccaaagactgtttatgttgatgtatggaaaagagcatgattttaaaaaatcaatcataggaggaaaagaaattcgcttttcaagtaggaaggaatacagctagcaagaaagcaatttatttgaaacttctaatggatttttgagtgataaaacatttactaccttgtcctttaagtctgctaggctctcagtaccctaaaataaactagattgtgttgctattttttttctttctctataaaaataacacattattttatccgttatttgaaattttacatttctggttaccaaagttcattctgatagcatgtactttgtgaattattatctttgtctataactgacagatgtttatattaaaataaaatattgtattaaaaatttaaaataggtattttggatagatatgtgtctgtagtatataatctaatgtgtccatagtattattgctaatcttttggtttactataagatgatataactattttttcattgggaatatacatttttcttaatgttccaacatctatactttgtaaagtcaaaacatttcccatgagctgtagttattcatccttctgtacaaaatgaaaagtttggaaattgtttgccctgataccttgaaaaagaagccagaatatttatttgcttcatcaacttcagtgtatatcattttgtgttattttatacgaaaacatgtttattattttcatttttgtaaaaggaagtaaaaggtcaacattttctctcatgtaccaaccttgtttgtatttctattttctgtaatgtttaagtatgatgttgaagaaattcacattctcttatagtttggatgggaagactattgactatttcagaaacagacttatttcagaggcttattgttttctctgtatttacctaatattttataacttttatgaatcagaataatgtccttcataaatttgtttaattgaagtcatctacttctaacaggacagatacacaactatttgaggtttacaaattacatctttgataagggaaatggtttcgtgacatgtacacagttgctattaaaatgtaactctatatattctatatgattgtaaatattttatacaacaatacaaataaaatatttttctattatatttaaaaaaaaaaaaaaaaaa
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