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2024-04-19 00:54:00, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001166698 3477 bp mRNA linear PRI 15-JUN-2013
DEFINITION Homo sapiens family with sequence similarity 13, member C (FAM13C),
transcript variant 4, mRNA.
ACCESSION NM_001166698
VERSION NM_001166698.1 GI:262359941
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 3477)
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 3477)
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 3477)
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
DA188937.1, AK316542.1, BM714192.1, BP394664.1 and BM677909.1.
Transcript Variant: This variant (4) differs in its 5' UTR, uses a
downstream start codon, and uses an alternate in-frame splice site
in the central coding region, compared to variant 1. The encoded
isoform (4) has a shorter N-terminus, compared to isoform 1.
##Evidence-Data-START##
Transcript exon combination :: AK316542.1 [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
1-4 DA188937.1 1-4
5-2281 AK316542.1 1-2277
2282-2645 BM714192.1 1-364 c
2646-3453 AK316542.1 2642-3449
3454-3456 BP394664.1 491-493
3457-3477 BM677909.1 1-21 c
FEATURES Location/Qualifiers
source 1..3477
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="10"
/map="10q21.1"
gene 1..3477
/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"
exon 197..281
/gene="FAM13C"
/gene_synonym="FAM13C1"
/inference="alignment:Splign:1.39.8"
misc_feature 250..252
/gene="FAM13C"
/gene_synonym="FAM13C1"
/note="upstream in-frame stop codon"
exon 282..338
/gene="FAM13C"
/gene_synonym="FAM13C1"
/inference="alignment:Splign:1.39.8"
exon 339..543
/gene="FAM13C"
/gene_synonym="FAM13C1"
/inference="alignment:Splign:1.39.8"
CDS 469..1974
/gene="FAM13C"
/gene_synonym="FAM13C1"
/note="isoform 4 is encoded by transcript variant 4;
family with sequence similarity 13, member C1; protein
FAM13C"
/codon_start=1
/product="protein FAM13C isoform 4"
/protein_id="NP_001160170.1"
/db_xref="GI:262359942"
/db_xref="CCDS:CCDS53538.1"
/db_xref="GeneID:220965"
/db_xref="HGNC:19371"
/translation="
MGNFKSRKPKSIFKAESGRSHGESQETEHVVSSQSECQVRAGTPAHESPQNNAFKCQETVRLQPRIDQRTAISPKDAFETRQDLNEEEAAQVHGVKDPAPASTQSVLADGTDSADPSPVHKDGQNEADSAPEDLHSVGTSRLLYHITDGDNPLLSPRCSIFSQSQRFNLDPESAPSPPSTQQFMMPRSSSRCSCGDGKEPQTITQLTKHIQSLKRKIRKFEEKFEQEKKYRPSHGDKTSNPEVLKWMNDLAKGRKQLKELKLKLSEEQGSAPKGPPRNLLCEQPTVPRENGKPEAAGPEPSSSGEETPDAALTCLKERREQLPPQEDSKVTKQDKNLIKPLYDRYRIIKQILSTPSLIPTIEEEDSDEDRPQGSQQPSLADPASHLPVGDHLTYSNETEPVRALLPDEKKEVKPPALSMSNLHEATMPVLLDHLRETRADKKRLRKALREFEEQFFKQTGRSPQKEDRIPMADEYYEYKHIKAKLRLLEVLISKQDVAKTI
"
exon 544..662
/gene="FAM13C"
/gene_synonym="FAM13C1"
/inference="alignment:Splign:1.39.8"
exon 663..726
/gene="FAM13C"
/gene_synonym="FAM13C1"
/inference="alignment:Splign:1.39.8"
exon 727..811
/gene="FAM13C"
/gene_synonym="FAM13C1"
/inference="alignment:Splign:1.39.8"
exon 812..1022
/gene="FAM13C"
/gene_synonym="FAM13C1"
/inference="alignment:Splign:1.39.8"
exon 1023..1161
/gene="FAM13C"
/gene_synonym="FAM13C1"
/inference="alignment:Splign:1.39.8"
exon 1162..1243
/gene="FAM13C"
/gene_synonym="FAM13C1"
/inference="alignment:Splign:1.39.8"
exon 1244..1455
/gene="FAM13C"
/gene_synonym="FAM13C1"
/inference="alignment:Splign:1.39.8"
exon 1456..1551
/gene="FAM13C"
/gene_synonym="FAM13C1"
/inference="alignment:Splign:1.39.8"
exon 1552..1748
/gene="FAM13C"
/gene_synonym="FAM13C1"
/inference="alignment:Splign:1.39.8"
exon 1749..1850
/gene="FAM13C"
/gene_synonym="FAM13C1"
/inference="alignment:Splign:1.39.8"
exon 1851..3460
/gene="FAM13C"
/gene_synonym="FAM13C1"
/inference="alignment:Splign:1.39.8"
STS 2028..2219
/gene="FAM13C"
/gene_synonym="FAM13C1"
/standard_name="G65661"
/db_xref="UniSTS:225452"
STS 2135..2234
/gene="FAM13C"
/gene_synonym="FAM13C1"
/standard_name="SHGC-30631"
/db_xref="UniSTS:51822"
variation 2519
/gene="FAM13C"
/gene_synonym="FAM13C1"
/replace="a"
/replace="t"
/db_xref="dbSNP:11540126"
STS 3282..3383
/gene="FAM13C"
/gene_synonym="FAM13C1"
/standard_name="D10S1860"
/db_xref="UniSTS:65450"
ORIGIN
gtgcagacagcagcccaaggtagagcgagcgtgccgggcgagcccggagacttgccttgcaatgccatgtttgtgtatgtgctctaactcccggagagcaatcagggagacggctccccggccagacttggctgatgttttcttgtttctgtttcagccttcaggataattccttcagcagcaccactgtaacagagcctgagagaaggggagagaggtgtgccaaagtgtgcatctgcaggccgaagatgaggcctggacttcctgctccaggtgcacaggtgtgacgaagatccagtctctctacatgaagaccagactgattgctccagtctcagagatgaaaacaataaagagaactaccccgacgcaggggctctggtagaagagcacgcgccgccctcttgggagccgcagcagcagaatgtagaggcgaccgtgctggtggacagcgtattgcgacccagcatgggcaacttcaagtccaggaagcccaagtccatcttcaaagcggagagcgggaggagccacggagaaagtcaggagacagagcatgtggtatccagccagtcagagtgtcaggtgagagcaggaacaccagctcatgagagtccacaaaacaatgccttcaagtgccaagaaacagtgcgacttcaaccaagaatagaccagaggactgccatttcgccaaaggatgcttttgaaactcggcaggacttaaatgaggaagaagctgctcaggtgcatggagtcaaggacccggcgccagcatcaacccagagcgtgcttgccgatgggacagattctgcagacccctcaccagtccacaaagatgggcagaatgaggccgacagtgcaccagaagacctccactctgtggggaccagcaggctgctctatcacatcactgatggtgataacccactgctgtcgccacgatgctccatcttcagccaaagccagagattcaacttagaccccgagtcagccccatctccacccagcactcagcagtttatgatgccgcggagttcttcacgctgcagctgtggagatggcaaggagccacagaccatcacccagctcaccaagcacatccagagcctcaagcggaaaattcggaaatttgaagaaaaatttgaacaagaaaagaaataccggccttcacatggtgacaagacttctaatcctgaagtcctgaaatggatgaatgatttggctaaaggtcgtaaacagctcaaagaactaaagctaaagctgtcagaagaacaagggagtgctcccaaaggtccacctagaaacctgttgtgtgagcaacccacagtccccagagaaaatgggaaaccggaagctgcgggcccggagccaagctcctctggagaagagactccagatgctgccttgacatgcctgaaggagagaagagagcaacttcctccccaggaggattctaaggtaactaagcaagacaagaacctcataaagccgctttatgaccgatacagaattatcaagcaaatcttgtcaacaccttcccttattccaacaattgaggaagaggactctgatgaagaccgtccacagggaagccaacaaccttctttggcagatccagcatctcaccttcctgttggtgaccacctcacctactctaatgagactgagcctgttagggcccttttaccagatgaaaagaaagaagtaaaaccaccagctctctccatgtctaatttacatgaggctaccatgcctgtacttcttgaccatctccgagaaactagggctgacaagaagagactgcggaaagccttaagagaatttgaagaacagttttttaaacaaacaggaagaagtccacaaaaggaagataggataccaatggcagatgagtattatgaatataagcacataaaagccaaactgagactattagaggtcctcatcagcaagcaagatgtggccaaaactatttgaggttcaggaaatgttatgatcactttcacccatgatataaagtaaagtttattttcctctgccatccttgctaagtagttttgacacaatgaaaatggaagcactttagtggtagtattagctgtttttaagaaggaatagcaagtttaattatatacaaggagaagggatttaaacggggggaagaatacaacaggtagccatataattgggaaaaaattcagtgtcctccatgccaagcagaaaactcatagtcaatacaagtatttttaaaaatgtctaatattttatcaaatctaaataacatagctaggacacttgttagggaaagtttatttagtatccaaagactgtttatgttgatgtatggaaaagagcatgattttaaaaaatcaatcataggaggaaaagaaattcgcttttcaagtaggaaggaatacagctagcaagaaagcaatttatttgaaacttctaatggatttttgagtgataaaacatttactaccttgtcctttaagtctgctaggctctcagtaccctaaaataaactagattgtgttgctattttttttctttctctataaaaataacacattattttatccgttatttgaaattttacatttctggttaccaaagttcattctgatagcatgtactttgtgaattattatctttgtctataactgacagatgtttatattaaaataaaatattgtattaaaaatttaaaataggtattttggatagatatgtgtctgtagtatataatctaatgtgtccatagtattattgctaatcttttggtttactataagatgatataactattttttcattgggaatatacatttttcttaatgttccaacatctatactttgtaaagtcaaaacatttcccatgagctgtagttattcatccttctgtacaaaatgaaaagtttggaaattgtttgccctgataccttgaaaaagaagccagaatatttatttgcttcatcaacttcagtgtatatcattttgtgttattttatacgaaaacatgtttattattttcatttttgtaaaaggaagtaaaaggtcaacattttctctcatgtaccaaccttgtttgtatttctattttctgtaatgtttaagtatgatgttgaagaaattcacattctcttatagtttggatgggaagactattgactatttcagaaacagacttatttcagaggcttattgttttctctgtatttacctaatattttataacttttatgaatcagaataatgtccttcataaatttgtttaattgaagtcatctacttctaacaggacagatacacaactatttgaggtttacaaattacatctttgataagggaaatggtttcgtgacatgtacacagttgctattaaaatgtaactctatatattctatatgattgtaaatattttatacaacaatacaaataaaatatttttctattatatttaaaaaaaaaaaaaaaaaa
//
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@meso_cacase at
DBCLS
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