AP4E1 gene homepage

General information
Gene symbol AP4E1
Gene name adaptor-related protein complex 4, epsilon 1 subunit
Chromosome 15
Chromosomal band q21.2
Imprinted Unknown
Genomic reference NG_031875.1
Transcript reference NM_001252127.1
Associated with diseases CPSQ-4, ID
Citation reference(s) -
Curators (1) LOVD-team, but with Curator vacancy
Total number of public variants reported 40
Unique public DNA variants reported 33
Individuals with public variants 167
Hidden variants 0
Download all this gene's data Download all data
Notes Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland.
Date created May 03, 2013
Date last updated January 13, 2018
Version AP4E1:180113

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/AP4E1
HGNC 573
Entrez Gene 23431
PubMed articles AP4E1
OMIM - Gene 607244
OMIM - Diseases CPSQ-4 (palsy, cerebral, spastic quadriplegic, type 4 (CPSQ-4))
HGMD AP4E1
GeneCards AP4E1
GeneTests AP4E1


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00002646 15 transcript variant 2 NM_001252127.1 NP_001239056.1 40


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