The CXorf59 gene homepage

NOTE: gene name changed from CXorf59 to CFAP47
General information
Gene symbol CXorf59
Gene name chromosome X open reading frame 59
Chromosome X
Chromosomal band p21.1
Imprinted Unknown
Genomic reference NC_000023.10
Transcript reference NM_001304548.1
Associated with diseases INFM
Citation reference(s) -
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 46
Unique public DNA variants reported 41
Individuals with public variants 9
Hidden variants 0
Download all this gene's data Download all data
Notes NOTE: gene name changed from CXorf59 to CFAP47
This gene sequence variant database has been initiated based on the data reported by Tarpey et al. (2009) A systematic, large-scale resequencing screen of the X-chromosome coding exons in mental retardation. Nat.Genet. 41: 535-543. Establishment of the database was supported by the European Community's Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project.
Date created March 06, 2009
Date last updated September 17, 2021
Version CXorf59:210917

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL https://www.LOVD.nl/CFAP47
HGNC 26708
Entrez Gene 286464
PubMed articles CXorf59
OMIM - Gene 301057
HGMD CXorf59
GeneCards CXorf59
GeneTests CXorf59
Orphanet CXorf59


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00025626 X transcript variant 1 NM_001304548.1 NP_001291477.1 46


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