Property Summary

NCBI Gene PubMed Count 9
Grant Count 17
R01 Count 17
Funding $3,452,954.5
PubMed Score 143.62
PubTator Score 149.50

Knowledge Summary

Patent

No data available

Expression

Gene RIF (3)

PMID Text
24798461 Exome sequencing identifies compound heterozygous mutations in C12orf57 in two siblings with severe intellectual disability, hypoplasia of the corpus callosum, chorioretinal coloboma, and intractable seizures.
23453665 The findings strongly support the candidacy of C12orf57 as a gene that is mutated in a distinct syndromic form of colobomatous microphthalmia in humans.
19204726 Observational study of gene-disease association. (HuGE Navigator)

AA Sequence

MASASTQPAALSAEQAKVVLAEVIQAFSAPENAVRMDEARDNACNDMGKMLQFVLPVATQIQQEVIKAYG      1 - 70
FSCDGEGVLKFARLVKSYEAQDPEIASLSGKLKALFLPPMTLPPHGPAAGGSVAAS                   71 - 126
//

Text Mined References (13)

PMID Year Title
24798461 2014 Exome sequencing identifies compound heterozygous mutations in C12orf57 in two siblings with severe intellectual disability, hypoplasia of the corpus callosum, chorioretinal coloboma, and intractable seizures.
23633300 2013 A newly recognized autosomal recessive syndrome affecting neurologic function and vision.
23453666 2013 Whole-exome sequencing identifies mutated c12orf57 in recessive corpus callosum hypoplasia.
23453665 2013 Mutations in c12orf57 cause a syndromic form of colobomatous microphthalmia.
22223895 2012 Comparative large scale characterization of plant versus mammal proteins reveals similar and idiosyncratic N-?-acetylation features.
21269460 2011 Initial characterization of the human central proteome.
19413330 2009 Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.
19204726 2009 Transcriptomic and genetic studies identify IL-33 as a candidate gene for Alzheimer's disease.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
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