The 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 ID, SPG52
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 30
Unique public DNA variants reported 20
Individuals with public variants 15
Hidden variants 5
Date created May 03, 2013
Date last updated February 24, 2022
Version AP4S1:220224

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 SPG52 (Spastic paraplegia 52, autosomal recessive)
HGMD AP4S1
GeneCards AP4S1
GeneTests AP4S1
Orphanet AP4S1


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00002648 14 transcript variant 2 NM_001128126.2 NP_001121598.1 30


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