AKAP1 A-kinase anchoring protein 1

Information
Symbol
AKAP1
Type
protein-coding
Description
A-kinase anchoring protein 1
Entrez Gene ID
8165
Genome
hg19
Position
chr17:55,162,607-55,198,705
Genome
hg38
Position
chr17:57,085,246-57,121,344
MIM
602449 OMIM
HGNC
HGNC:367 HGNC
Ensembl
ENSG00000121057 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 26
Likely benign 0 24
Uncertain significance 0 88
Ranking
ClinVar
0
0
0
136
2
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 :
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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 :
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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 AKAP
SYNONYM AKAP121
SYNONYM AKAP149
SYNONYM AKAP84
SYNONYM D-AKAP1
SYNONYM PPP1R43
SYNONYM PRKA1
SYNONYM SAKAP84
SYNONYM TDRD17
MIM 602449 OMIM
HGNC HGNC:367 HGNC
Ensembl ENSG00000121057 Ensembl
AllianceGenome HGNC:367
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000572557.5 hg38 chr17 57,095,844 57,120,570 24,727
ENST00000314126.4 hg38 chr17 57,096,726 57,114,570 17,845
ENST00000571629.5 hg38 chr17 57,085,714 57,120,375 34,662
ENST00000337714.8 hg38 chr17 57,085,246 57,121,344 36,099
ENST00000539273.5 hg38 chr17 57,096,578 57,120,555 23,978
ENST00000621116.4 hg38 chr17 57,085,717 57,121,342 35,626
ENST00000337714.8 hg19 chr17 55,162,607 55,198,705 36,099
ENST00000571629.5 hg19 chr17 55,163,075 55,197,736 34,662
ENST00000572557.5 hg19 chr17 55,173,205 55,197,931 24,727
ENST00000314126.4 hg19 chr17 55,174,087 55,191,931 17,845
ENST00000539273.5 hg19 chr17 55,173,939 55,197,916 23,978
ENST00000621116.4 hg19 chr17 55,163,078 55,198,703 35,626
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