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, NM_001254726.1, NM_001254727.1, NM_001254728.1, NM_001254729.1, NM_007077.4, XM_005267293.2
Associated with diseases CPSQ-6, ID
Citation reference(s) -
Curators (1) Johan T. den Dunnen
Total number of public variants reported 45
Unique public DNA variants reported 7
Individuals with public variants 35
Hidden variants 66
Date created November 30, -0001
Date last updated September 28, 2016
Version AP4S1:160928

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:575
Entrez Gene 11154
PubMed articles AP4S1
OMIM - Gene 607243
OMIM - Diseases CPSQ-6 (palsy, cerebral, spastic quadriplegic, type 6 (CPSQ-6))


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00010030 14 transcript variant 6 NM_001254729.1 NP_001241658.1 45
00010031 14 transcript variant 2 NM_001128126.2 NP_001121598.1 45
00010035 14 transcript variant 5 NM_001254728.1 NP_001241657.1 45
00010032 14 transcript variant 4 NM_001254727.1 NP_001241656.1 38
00010033 14 transcript variant 1 NM_007077.4 NP_009008.2 38
00010034 14 transcript variant 3 NM_001254726.1 NP_001241655.1 7
00036283 14 transcript variant X1 XM_005267293.2 XP_005267350.1 -