APAF1 apoptotic peptidase activating factor 1

Information
Symbol
APAF1
Type
protein-coding
Description
apoptotic peptidase activating factor 1
Entrez Gene ID
317
Genome
hg19
Position
chr12:99,038,927-99,129,138
Genome
hg38
Position
chr12:98,645,149-98,735,360
MIM
602233 OMIM
HGNC
HGNC:576 HGNC
Ensembl
ENSG00000120868 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 24
Likely benign 0 36
Uncertain significance 0 90
Ranking
ClinVar
0
0
16
128
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 :
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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 APAF-1
SYNONYM CED4
MIM 602233 OMIM
HGNC HGNC:576 HGNC
Ensembl ENSG00000120868 Ensembl
AllianceGenome HGNC:576
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000550527.5 hg38 chr12 98,648,353 98,735,426 87,074
ENST00000359972.6 hg38 chr12 98,645,300 98,735,433 90,134
ENST00000552268.5 hg38 chr12 98,648,316 98,732,563 84,248
ENST00000547743.1 hg38 chr12 98,645,671 98,648,932 3,262
ENST00000549007.1 hg38 chr12 98,648,360 98,732,566 84,207
ENST00000547045.5 hg38 chr12 98,648,355 98,732,687 84,333
ENST00000551964.6 hg38 chr12 98,645,290 98,735,433 90,144
ENST00000333991.5 hg38 chr12 98,645,300 98,735,426 90,127
ENST00000715693.1 hg38 chr12 98,645,149 98,735,360 90,212
ENST00000357310.5 hg38 chr12 98,645,300 98,735,426 90,127
ENST00000715693.1 hg19 chr12 99,038,927 99,129,138 90,212
ENST00000551964.6 hg19 chr12 99,039,068 99,129,211 90,144
ENST00000333991.5 hg19 chr12 99,039,078 99,129,204 90,127
ENST00000357310.5 hg19 chr12 99,039,078 99,129,204 90,127
ENST00000359972.6 hg19 chr12 99,039,078 99,129,211 90,134
ENST00000547743.1 hg19 chr12 99,039,449 99,042,710 3,262
ENST00000552268.5 hg19 chr12 99,042,094 99,126,341 84,248
ENST00000550527.5 hg19 chr12 99,042,131 99,129,204 87,074
ENST00000547045.5 hg19 chr12 99,042,133 99,126,465 84,333
ENST00000549007.1 hg19 chr12 99,042,138 99,126,344 84,207
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