2025-05-09 19:05:22, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_198215 3395 bp mRNA linear PRI 15-JUN-2013 DEFINITION Homo sapiens family with sequence similarity 13, member C (FAM13C), transcript variant 1, mRNA. ACCESSION NM_198215 XM_166142 VERSION NM_198215.3 GI:219555744 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 3395) 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 3395) 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 3395) 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:50897855. Transcript Variant: This variant (1) encodes the longest isoform (1). ##Evidence-Data-START## Transcript exon combination :: BC036453.1, AK289796.1 [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 1-238 BC064431.1 1-238 239-2293 AK289796.1 165-2219 2294-3321 BC064431.1 1998-3025 3322-3374 AI453702.1 6-58 c 3375-3395 BM677909.1 1-21 c FEATURES Location/Qualifiers source 1..3395 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="10" /map="10q21.1" gene 1..3395 /gene="FAM13C" /gene_synonym="FAM13C1" /note="family with sequence similarity 13, member C" /db_xref="GeneID:220965" /db_xref="HGNC:19371" /db_xref="HPRD:16875" 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..1892 /gene="FAM13C" /gene_synonym="FAM13C1" /note="isoform 1 is encoded by transcript variant 1; family with sequence similarity 13, member C1; protein FAM13C" /codon_start=1 /product="protein FAM13C isoform 1" /protein_id="NP_937858.2" /db_xref="GI:50897856" /db_xref="CCDS:CCDS7255.1" /db_xref="GeneID:220965" /db_xref="HGNC:19371" /db_xref="HPRD:16875" /translation="
MFSCFCFSLQDNSFSSTTVTECDEDPVSLHEDQTDCSSLRDENNKENYPDAGALVEEHAPPSWEPQQQNVEATVLVDSVLRPSMGNFKSRKPKSIFKAESGRSHGESQETEHVVSSQSECQVRAGTPAHESPQNNAFKCQETVRLQPRIDQRTAISPKDAFETRQDLNEEEAAQVHGVKDPAPASTQSVLADGTDSADPSPVHKDGQNEADSAPEDLHSVGTSRLLYHITDGDNPLLSPRCSIFSQSQRFNLDPESAPSPPSTQQFMMPRSSSRCSCGDGKEPQTITQLTKHIQSLKRKIRKFEEKFEQEKKYRPSHGDKTSNPEVLKWMNDLAKGRKQLKELKLKLSEEQGSAPKGPPRNLLCEQPTVPRENGKPEAAGPEPSSSGEETPDAALTCLKERREQLPPQEDSKVTKQDKNLIKPLYDRYRIIKQILSTPSLIPTIQEEEDSDEDRPQGSQQPSLADPASHLPVGDHLTYSNETEPVRALLPDEKKEVKPPALSMSNLHEATMPVLLDHLRETRADKKRLRKALREFEEQFFKQTGRSPQKEDRIPMADEYYEYKHIKAKLRLLEVLISKQDVAKTI
" 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..1158 /gene="FAM13C" /gene_synonym="FAM13C1" /inference="alignment:Splign:1.39.8" exon 1159..1370 /gene="FAM13C" /gene_synonym="FAM13C1" /inference="alignment:Splign:1.39.8" exon 1371..1466 /gene="FAM13C" /gene_synonym="FAM13C1" /inference="alignment:Splign:1.39.8" exon 1467..1666 /gene="FAM13C" /gene_synonym="FAM13C1" /inference="alignment:Splign:1.39.8" exon 1667..1768 /gene="FAM13C" /gene_synonym="FAM13C1" /inference="alignment:Splign:1.39.8" exon 1769..3378 /gene="FAM13C" /gene_synonym="FAM13C1" /inference="alignment:Splign:1.39.8" STS 1946..2137 /gene="FAM13C" /gene_synonym="FAM13C1" /standard_name="G65661" /db_xref="UniSTS:225452" STS 2053..2152 /gene="FAM13C" /gene_synonym="FAM13C1" /standard_name="SHGC-30631" /db_xref="UniSTS:51822" variation 2437 /gene="FAM13C" /gene_synonym="FAM13C1" /replace="a" /replace="t" /db_xref="dbSNP:11540126" STS 3200..3301 /gene="FAM13C" /gene_synonym="FAM13C1" /standard_name="D10S1860" /db_xref="UniSTS:65450" ORIGIN
gtgcagacagcagcccaaggtagagcgagcgtgccgggcgagcccggagacttgccttgcaatgccatgtttgtgtatgtgctctaactcccggagagcaatcagggagacggctccccggccagacttggctgatgttttcttgtttctgtttcagccttcaggataattccttcagcagcaccactgtaacagagtgtgacgaagatccagtctctctacatgaagaccagactgattgctccagtctcagagatgaaaacaataaagagaactaccccgacgcaggggctctggtagaagagcacgcgccgccctcttgggagccgcagcagcagaatgtagaggcgaccgtgctggtggacagcgtattgcgacccagcatgggcaacttcaagtccaggaagcccaagtccatcttcaaagcggagagcgggaggagccacggagaaagtcaggagacagagcatgtggtatccagccagtcagagtgtcaggtgagagcaggaacaccagctcatgagagtccacaaaacaatgccttcaagtgccaagaaacagtgcgacttcaaccaagaatagaccagaggactgccatttcgccaaaggatgcttttgaaactcggcaggacttaaatgaggaagaagctgctcaggtgcatggagtcaaggacccggcgccagcatcaacccagagcgtgcttgccgatgggacagattctgcagacccctcaccagtccacaaagatgggcagaatgaggccgacagtgcaccagaagacctccactctgtggggaccagcaggctgctctatcacatcactgatggtgataacccactgctgtcgccacgatgctccatcttcagccaaagccagagattcaacttagaccccgagtcagccccatctccacccagcactcagcagtttatgatgccgcggagttcttcacgctgcagctgtggagatggcaaggagccacagaccatcacccagctcaccaagcacatccagagcctcaagcggaaaattcggaaatttgaagaaaaatttgaacaagaaaagaaataccggccttcacatggtgacaagacttctaatcctgaagtcctgaaatggatgaatgatttggctaaaggtcgtaaacagctcaaagaactaaagctaaagctgtcagaagaacaagggagtgctcccaaaggtccacctagaaacctgttgtgtgagcaacccacagtccccagagaaaatgggaaaccggaagctgcgggcccggagccaagctcctctggagaagagactccagatgctgccttgacatgcctgaaggagagaagagagcaacttcctccccaggaggattctaaggtaactaagcaagacaagaacctcataaagccgctttatgaccgatacagaattatcaagcaaatcttgtcaacaccttcccttattccaacaattcaggaggaagaggactctgatgaagaccgtccacagggaagccaacaaccttctttggcagatccagcatctcaccttcctgttggtgaccacctcacctactctaatgagactgagcctgttagggcccttttaccagatgaaaagaaagaagtaaaaccaccagctctctccatgtctaatttacatgaggctaccatgcctgtacttcttgaccatctccgagaaactagggctgacaagaagagactgcggaaagccttaagagaatttgaagaacagttttttaaacaaacaggaagaagtccacaaaaggaagataggataccaatggcagatgagtattatgaatataagcacataaaagccaaactgagactattagaggtcctcatcagcaagcaagatgtggccaaaactatttgaggttcaggaaatgttatgatcactttcacccatgatataaagtaaagtttattttcctctgccatccttgctaagtagttttgacacaatgaaaatggaagcactttagtggtagtattagctgtttttaagaaggaatagcaagtttaattatatacaaggagaagggatttaaacggggggaagaatacaacaggtagccatataattgggaaaaaattcagtgtcctccatgccaagcagaaaactcatagtcaatacaagtatttttaaaaatgtctaatattttatcaaatctaaataacatagctaggacacttgttagggaaagtttatttagtatccaaagactgtttatgttgatgtatggaaaagagcatgattttaaaaaatcaatcataggaggaaaagaaattcgcttttcaagtaggaaggaatacagctagcaagaaagcaatttatttgaaacttctaatggatttttgagtgataaaacatttactaccttgtcctttaagtctgctaggctctcagtaccctaaaataaactagattgtgttgctattttttttctttctctataaaaataacacattattttatccgttatttgaaattttacatttctggttaccaaagttcattctgatagcatgtactttgtgaattattatctttgtctataactgacagatgtttatattaaaataaaatattgtattaaaaatttaaaataggtattttggatagatatgtgtctgtagtatataatctaatgtgtccatagtattattgctaatcttttggtttactataagatgatataactattttttcattgggaatatacatttttcttaatgttccaacatctatactttgtaaagtcaaaacatttcccatgagctgtagttattcatccttctgtacaaaatgaaaagtttggaaattgtttgccctgataccttgaaaaagaagccagaatatttatttgcttcatcaacttcagtgtatatcattttgtgttattttatacgaaaacatgtttattattttcatttttgtaaaaggaagtaaaaggtcaacattttctctcatgtaccaaccttgtttgtatttctattttctgtaatgtttaagtatgatgttgaagaaattcacattctcttatagtttggatgggaagactattgactatttcagaaacagacttatttcagaggcttattgttttctctgtatttacctaatattttataacttttatgaatcagaataatgtccttcataaatttgtttaattgaagtcatctacttctaacaggacagatacacaactatttgaggtttacaaattacatctttgataagggaaatggtttcgtgacatgtacacagttgctattaaaatgtaactctatatattctatatgattgtaaatattttatacaacaatacaaataaaatatttttctattatatttaaaaaaaaaaaaaaaaaa
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