The AP4B1 gene homepage

General information
Gene symbol AP4B1
Gene name adaptor-related protein complex 4, beta 1 subunit
Chromosome 1
Chromosomal band p13.2
Imprinted Unknown
Genomic reference NG_031901.1
Transcript reference NM_001253852.1, NM_001253853.1, NM_006594.3
Associated with diseases CPSQ-5, ID
Citation reference(s) -
Curators (1) Johan T. den Dunnen
Total number of public variants reported 108
Unique public DNA variants reported 9
Individuals with public variants 35
Hidden variants 12
Date created October 28, 2013
Date last updated September 28, 2016
Version AP4B1:160928

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
External URL List of LSDBs for this gene
The reference LOVD for this gene, if available
HGNC HGNC:572
Entrez Gene 10717
PubMed articles AP4B1
OMIM - Gene 607245
OMIM - Diseases CPSQ-5 (palsy, cerebral, spastic quadriplegic, type 5 (CPSQ-5))
HGMD AP4B1
GeneCards AP4B1
GeneTests AP4B1


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00000459 1 transcript variant 3 NM_001253853.1 NP_001240782.1 108
00015677 1 Manually created transcript. NM_001253852.1 - 108
00015678 1 Manually created transcript. (removed from reference sequence) NM_006594.3 - 108


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