2025-05-09 19:09:43, 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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