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2026-01-09 06:00:10, 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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@meso_cacase at
DBCLS
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