AP5S1 adaptor related protein complex 5 subunit sigma 1

Information
Symbol
AP5S1
Type
protein-coding
Description
adaptor related protein complex 5 subunit sigma 1
Entrez Gene ID
55317
Genome
hg19
Position
chr20:3,801,194-3,809,485
Genome
hg38
Position
chr20:3,820,547-3,828,838
MIM
614824 OMIM
HGNC
HGNC:15875 HGNC
Ensembl
ENSG00000125843 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely benign 0 2
Uncertain significance 0 40
Ranking
ClinVar
0
0
2
40
0
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
[No Data.]
Locus Zoom
Variants
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Variant name Gene AA change CDS Japanese
frequency		 TogoVar MGeND Genome ClinVar CIViC evidence DisGeNET entry COSMIC
occurrence		 Prediction
Entry Origin Type Annotation Entry Origin Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Name MGeND Type Genome Size Chromosome Start Stop Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Name MGeND Type Genome Gene symbol Chromosome Genomic start Genomic stop Strand Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
TypeID
SYNONYM C20orf29
MIM 614824 OMIM
HGNC HGNC:15875 HGNC
Ensembl ENSG00000125843 Ensembl
AllianceGenome HGNC:15875
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000379573.6 hg38 chr20 3,820,531 3,825,302 4,772
ENST00000379567.6 hg38 chr20 3,820,536 3,825,302 4,767
ENST00000615891.2 hg38 chr20 3,820,547 3,828,838 8,292
ENST00000246041.6 hg38 chr20 3,820,524 3,825,307 4,784
ENST00000246041.6 hg19 chr20 3,801,171 3,805,954 4,784
ENST00000379573.6 hg19 chr20 3,801,178 3,805,949 4,772
ENST00000379567.6 hg19 chr20 3,801,183 3,805,949 4,767
ENST00000615891.2 hg19 chr20 3,801,194 3,809,485 8,292
Genome browser