AP4S1 gene homepage

General information
Gene symbol AP4S1
Gene name adaptor-related protein complex 4, sigma 1 subunit
Chromosome 14
Chromosomal band q12
Imprinted Unknown
Genomic reference NG_031913.1
Transcript reference NM_001128126.2
Exon/intron information NM_001128126.2 exon/intron table
Associated with diseases CPSQ-6, ID
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) LOVD-team, but with Curator vacancy
Total number of public variants reported 25
Unique public DNA variants reported 19
Individuals with public variants 7
Hidden variants 4
Date created May 03, 2013
Date last updated March 23, 2020
Version AP4S1:200323

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_001128126.2.
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 http://www.LOVD.nl/AP4S1
HGNC 575
Entrez Gene 11154
PubMed articles AP4S1
OMIM - Gene 607243
OMIM - Diseases CPSQ-6 (palsy, cerebral, spastic quadriplegic, type 6 (CPSQ-6))
GeneCards AP4S1
GeneTests AP4S1

Active transcripts




NCBI ID     

NCBI Protein ID     

00002648 14 transcript variant 2 NM_001128126.2 NP_001121598.1 25

Copyright & disclaimer
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