The 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, NM_007347.4, XM_005254264.2
Associated with diseases CPSQ-4, ID
Citation reference(s) -
Curators (1) Johan T. den Dunnen
Total number of public variants reported 141
Unique public DNA variants reported 14
Individuals with public variants 35
Hidden variants 22
Date created November 30, -0001
Date last updated September 28, 2016
Version AP4E1:160928

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:573
Entrez Gene 23431
PubMed articles AP4E1
OMIM - Gene 607244
OMIM - Diseases CPSQ-4 (palsy, cerebral, spastic quadriplegic, type 4 (CPSQ-4))


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00010028 15 transcript variant 2 NM_001252127.1 NP_001239056.1 141
00010029 15 transcript variant 1 NM_007347.4 NP_031373.2 141
00037011 15 transcript variant X1 XM_005254264.2 XP_005254321.1 -