CENPJ gene homepage

General information
Gene symbol CENPJ
Gene name centromere protein J
Chromosome 13
Chromosomal band q12.12
Imprinted Unknown
Genomic reference NG_009165.2
Transcript reference NM_018451.3
Exon/intron information NM_018451.3 exon/intron table
Associated with diseases ID, MCPH-6, SCKL, SCKL-4
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) LOVD-team, but with Curator vacancy
Total number of public variants reported 80
Unique public DNA variants reported 70
Individuals with public variants 2
Hidden variants 22
Download all this gene's data Download all data
Notes Establishment of this gene variant database (LSDB) was supported by the European Community's Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project.
Date created May 01, 2012
Date last updated June 28, 2019
Version CENPJ:190628

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_018451.3.
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/CENPJ
HGNC 17272
Entrez Gene 55835
PubMed articles CENPJ
OMIM - Gene 609279
OMIM - Diseases MCPH-6 (microcephaly, type 6, primary, autosomal recessive (MCPH-6))
SCKL (Seckel syndrome (SCKL))
SCKL-4 (Seckel syndrome, type 4 (SCKL-4))
GeneCards CENPJ
GeneTests CENPJ

Active transcripts




NCBI ID     

NCBI Protein ID     

00000108 13 centromere protein J NM_018451.3 NP_060921.3 80

Copyright & disclaimer
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